This document summarizes the key points from a debate on whether all patients undergoing invasive prenatal testing should have chromosomal microarray analysis (CMA). One speaker argued in favor, stating that CMA has higher resolution than karyotyping and can find clinically relevant microdeletions and duplications in 6-10% of cases. It provides direct mapping and faster results. The other speaker argued against, saying that karyotyping has been the standard for 40 years and can detect structural abnormalities, while CMA finds variants of uncertain significance. Both sides acknowledged pros and cons, with the debate centering on whether improved detection outweighs uncertainty.
This document summarizes research on using stem cells to treat malignant brain tumors. It discusses the limitations of current standard treatments and emerging stem cell therapies. While preclinical studies show neural stem cells can target brain tumors, clinical trials have shown dismal efficacy. The document reviews that a small fraction of applied stem cells reach tumors, while most cannot. It proposes training stem cells in a native tissue environment to help them move through barriers and target tumors. Specifically, it presents data validating an engineered tissue graft culture platform can produce stem cells with better distribution for targeting tumors than standard culture methods.
The document discusses a genetic test called iMGE Test that analyzes miscarriage material to identify chromosomal defects that may cause pregnancy loss. The test uses next generation sequencing to analyze all chromosomes simultaneously and does not require cell culture, providing results for over 95% of cases. Identifying genetic causes can help guide family planning decisions and determine if preimplantation genetic diagnosis would be beneficial for couples seeking to avoid miscarriage in future pregnancies. The test is recommended after miscarriage for women over 35, those with a family history of genetic defects, or couples with a history of infertility or recurrent miscarriage.
This study evaluated the use of targeted next-generation sequencing (NGS) for preimplantation genetic diagnosis (PGD) of single-gene disorders. The study compared NGS results from embryo biopsies to results from two established PGD methods. NGS provided 100% consistency with the established methods in diagnosing point mutations and small insertions/deletions in six couples at risk of transmitting single-gene disorders. Additionally, NGS allowed for parallel single-gene disorder screening and comprehensive chromosome screening from the same biopsy sample. The study demonstrates NGS can provide accurate and consistent PGD results and could serve as a model for further development of this emerging technology in PGD.
Application of NGS technologies to Preimplantation Genetic Diagnosis (PGD)Andreu Paytuví
This document discusses the application of next generation sequencing (NGS) technologies to preimplantation genetic diagnosis (PGD). PGD is used to test embryos for genetic abnormalities prior to implantation to avoid miscarriages. NGS allows for PGD with sequencing of entire genomes from single cells. Data analysis uses hidden Markov models to determine ploidy status based on coverage levels. NGS-PGD costs approximately $70 per embryo and takes around 15 hours. Case studies demonstrate detection of cystic fibrosis mutations and aneuploidies from embryo biopsies.
DNA-Repairing Protein May Be Key to Preventing Recurrence of Some Cancers and...Palaelo
XPD acts as a scanner that finds damage on DNA and stops to mark areas for repair. Understanding this protein could help improve cancer treatments by stimulating or suppressing its activity. KLF8 appears to protect tumor cells and enable cancer recurrence in breast and ovarian cancer. Inhibiting KLF8's activity may prevent cancer recurrence and provide a new therapy approach. Overall, understanding DNA repair mechanisms and the roles of proteins like XPD and KLF8 can help develop better strategies to treat cancer and reduce recurrence.
This document summarizes a study applying post-light semiconductor-based next-generation sequencing (PLS-NGS) in preimplantation genetic screening with fresh embryo transfers. The study found that PLS-NGS analysis of biopsied blastomeres could be completed within 12 hours, allowing selection of normal embryos for fresh transfer without needing blastocyst vitrification. Patients undergoing PGS and fresh transfer based on PLS-NGS results had higher pregnancy and implantation rates and lower miscarriage rates than a control group without PGS. The results suggest PLS-NGS may be an effective tool for embryo selection in IVF when used to allow fresh embryo transfers.
This document summarizes a study that assessed the correlation between day 5 and day 6 blastocyst morphology and ploidy status using next-generation sequencing. The study found that slower developing blastocysts biopsied on day 6, but at the same morphological stage as day 5 blastocysts, did not have a similar chromosomal status and provided a lower chance of achieving pregnancy. Specifically, the study analyzed 168 blastocysts biopsied on either day 5 or day 6 that underwent trophectoderm biopsy and next-generation sequencing. It found that day 5 blastocysts had a higher euploidy rate than day 6 blastocysts of the same morphological stage.
This document summarizes research on using stem cells to treat malignant brain tumors. It discusses the limitations of current standard treatments and emerging stem cell therapies. While preclinical studies show neural stem cells can target brain tumors, clinical trials have shown dismal efficacy. The document reviews that a small fraction of applied stem cells reach tumors, while most cannot. It proposes training stem cells in a native tissue environment to help them move through barriers and target tumors. Specifically, it presents data validating an engineered tissue graft culture platform can produce stem cells with better distribution for targeting tumors than standard culture methods.
The document discusses a genetic test called iMGE Test that analyzes miscarriage material to identify chromosomal defects that may cause pregnancy loss. The test uses next generation sequencing to analyze all chromosomes simultaneously and does not require cell culture, providing results for over 95% of cases. Identifying genetic causes can help guide family planning decisions and determine if preimplantation genetic diagnosis would be beneficial for couples seeking to avoid miscarriage in future pregnancies. The test is recommended after miscarriage for women over 35, those with a family history of genetic defects, or couples with a history of infertility or recurrent miscarriage.
This study evaluated the use of targeted next-generation sequencing (NGS) for preimplantation genetic diagnosis (PGD) of single-gene disorders. The study compared NGS results from embryo biopsies to results from two established PGD methods. NGS provided 100% consistency with the established methods in diagnosing point mutations and small insertions/deletions in six couples at risk of transmitting single-gene disorders. Additionally, NGS allowed for parallel single-gene disorder screening and comprehensive chromosome screening from the same biopsy sample. The study demonstrates NGS can provide accurate and consistent PGD results and could serve as a model for further development of this emerging technology in PGD.
Application of NGS technologies to Preimplantation Genetic Diagnosis (PGD)Andreu Paytuví
This document discusses the application of next generation sequencing (NGS) technologies to preimplantation genetic diagnosis (PGD). PGD is used to test embryos for genetic abnormalities prior to implantation to avoid miscarriages. NGS allows for PGD with sequencing of entire genomes from single cells. Data analysis uses hidden Markov models to determine ploidy status based on coverage levels. NGS-PGD costs approximately $70 per embryo and takes around 15 hours. Case studies demonstrate detection of cystic fibrosis mutations and aneuploidies from embryo biopsies.
DNA-Repairing Protein May Be Key to Preventing Recurrence of Some Cancers and...Palaelo
XPD acts as a scanner that finds damage on DNA and stops to mark areas for repair. Understanding this protein could help improve cancer treatments by stimulating or suppressing its activity. KLF8 appears to protect tumor cells and enable cancer recurrence in breast and ovarian cancer. Inhibiting KLF8's activity may prevent cancer recurrence and provide a new therapy approach. Overall, understanding DNA repair mechanisms and the roles of proteins like XPD and KLF8 can help develop better strategies to treat cancer and reduce recurrence.
This document summarizes a study applying post-light semiconductor-based next-generation sequencing (PLS-NGS) in preimplantation genetic screening with fresh embryo transfers. The study found that PLS-NGS analysis of biopsied blastomeres could be completed within 12 hours, allowing selection of normal embryos for fresh transfer without needing blastocyst vitrification. Patients undergoing PGS and fresh transfer based on PLS-NGS results had higher pregnancy and implantation rates and lower miscarriage rates than a control group without PGS. The results suggest PLS-NGS may be an effective tool for embryo selection in IVF when used to allow fresh embryo transfers.
This document summarizes a study that assessed the correlation between day 5 and day 6 blastocyst morphology and ploidy status using next-generation sequencing. The study found that slower developing blastocysts biopsied on day 6, but at the same morphological stage as day 5 blastocysts, did not have a similar chromosomal status and provided a lower chance of achieving pregnancy. Specifically, the study analyzed 168 blastocysts biopsied on either day 5 or day 6 that underwent trophectoderm biopsy and next-generation sequencing. It found that day 5 blastocysts had a higher euploidy rate than day 6 blastocysts of the same morphological stage.
The Level of Expression of Ki-67 in Invasive Cervical Cancers and Cervical I...Crimsonpublishers-IGRWH
The Level of Expression of Ki-67 in Invasive Cervical Cancers and Cervical Intraepithelial Neoplasia in Ghanaian Women by Ama Afrah in Womens Health Journal
This study analyzed aneuploidy rates, apoptotic markers, and DNA fragmentation in sperm samples from normozoospermic men with unexplained infertility. Samples underwent density gradient centrifugation and then magnetic activated cell sorting (MACS). MACS significantly reduced the percentage of aneuploid, apoptotic, and DNA-damaged sperm. A positive correlation was found between reduced aneuploidy and lower DNA damage after MACS, but no correlation with apoptotic markers. The interactions between apoptotic markers, DNA integrity, and aneuploidy, as well as the effects of MACS on these parameters, require further investigation.
This study evaluated the use of blastocyst biopsy and array comparative genomic hybridization (aCGH) for preimplantation genetic diagnosis in 12 patients with chromosomal translocations. The diagnostic efficiency was 90.2% and euploidy rate was 32.7%. Ten cycles of thawed embryo transfer resulted in three live births and three ongoing pregnancies, for an ongoing pregnancy rate of 60% per transfer cycle. Prenatal diagnoses confirmed the PGD/aCGH results. The strategy demonstrates promising outcomes and may provide a more effective approach than traditional methods like fluorescence in situ hybridization. Larger studies are still needed to verify the results.
Danish experiences with Chromosomal Micro-Array (CMA) in prenatal settings.
Since 2004, all Danish women are offered combined first trimester screening and anomaly scans. The use of CMA in Denmark has increased the detection rate of chromosomal abnormalities compared to traditional chromosome analysis. CMA is now considered the first-tier test for pregnancies with structural malformations, enlarged nuchal translucency, or unexplained growth issues. While CMA provides more information, it also returns more variants of unknown significance which require careful counseling and consideration in pregnancy management decisions.
This study explored strategies for screening for trisomy 21 using maternal blood cell-free DNA (cfDNA) testing and first trimester biomarkers. The study analyzed data from over 87,000 pregnancies to determine optimal risk cut-offs for various biomarker combinations that could identify women for cfDNA testing. Modeling suggested a contingent screening approach using initial combined first trimester screening followed by cfDNA testing for women at or above a 1:3,000 risk could achieve a detection rate of over 99% for trisomy 21 while greatly reducing invasive testing rates compared to current screening. This strategy was estimated to require cfDNA testing for only 3% of pregnancies.
This document discusses cyclinD1 and its role as a marker for oral cancer progression. It finds that cyclinD1 expression increases from normal epithelium to leukoplakia to oral squamous cell carcinoma. Higher cyclinD1 expression correlates with poorer tumor differentiation and worse patient outcomes like early death or recurrence. The study concludes that cyclinD1 overexpression may help identify high-risk oral cancer patients and serve as a prognostic marker.
This document discusses preimplantation genetic screening (PGS) using comprehensive chromosome screening (CCS) techniques like array comparative genomic hybridization (aCGH) to test embryos for chromosome abnormalities. It provides data from over 39,000 PGS procedures performed by Reprogenetics Laboratories showing that CCS-based PGS can double implantation rates and eliminate the negative impact of maternal age on implantation by selecting only euploid embryos for transfer. Randomized controlled trials show pregnancy rates are 20-30% higher with CCS-based PGS compared to untested embryos. The document concludes that CCS-based PGS has proven its ability to improve IVF outcomes by selecting embryos without chromosome abnormalities.
EPC_June-15_pp.52-55 (EPC Industry Advisor) (1)shelley bowers
The document discusses the challenges surrounding diagnosing and predicting the future of patients with variant Creutzfelt-Jakob disease (vCJD). Current diagnostic tools can only confirm the disease post-mortem and late in progression, providing little useful information for patients. New diagnostic techniques including nasal sampling and blood tests show promise but are still only effective for symptomatic patients. Wide-scale population testing raises ethical issues as many carriers may never develop symptoms but would suffer psychologically from a positive diagnosis. There are no treatments for vCJD, so early diagnosis remains a priority but challenges remain due to the properties of prions and low levels in the body.
exome sequencing improves genetic diagnosis of fetal increased nuchal translu...Võ Tá Sơn
This study analyzed exome sequencing results from 73 fetuses with isolated increased nuchal translucency but normal chromosomal microarray analysis. Exome sequencing identified pathogenic variants in 4 cases (5.5% diagnostic rate), including 3 de novo dominant variants and 1 recessive variant. Three of the 4 cases developed structural anomalies on later ultrasound. This shows exome sequencing can detect genetic conditions in some cases with increased nuchal translucency not detected by other tests, aiding parental counseling.
This method accurately detected sex chromosome aneuploidies (45,X, 47,XXY, 47,XYY) in cell-free DNA isolated from maternal plasma. It analyzed 201 pregnancies including 16 with sex chromosome aneuploidies and 185 normal controls. The method involved massively multiplexed PCR and sequencing of 19,488 SNPs across chromosomes 13, 18, 21, X and Y. Using a statistical algorithm to analyze the SNP data, it correctly identified the copy number at all five chromosomes in 93% of samples, detecting sex chromosome aneuploidies with high sensitivity and specificity.
Whole genome scanning, resolving clinical diagnosis and management amaist com...koda004
This document discusses the challenges of using whole genome scanning microarrays in clinical settings. It notes that while these technologies can revolutionize genetic diagnosis, the large amount of complex data they generate can complicate clinical utility and patient benefit. It highlights issues physicians and healthcare professionals will face as testing resolution increases towards full genome sequencing. Addressing these issues now and evolving healthcare systems in response will be important to avoid potential harms and realize benefits.
This randomized controlled trial tested whether performing blastocyst biopsy with comprehensive chromosome screening (CCS) improves in vitro fertilization (IVF) outcomes compared to routine care. They found:
1) Sustained implantation rates (probability of embryo implanting and resulting in delivery) and delivery rates per cycle were significantly higher in the CCS group compared to the routine care group.
2) In the CCS group, 61 of 72 treatment cycles led to delivery (84.7%) compared to 56 of 83 (67.5%) in the routine care group.
3) Use of CCS with blastocyst biopsy and rapid quantitative PCR-based screening resulted in statistically significantly improved IVF outcomes, with
This study analyzed 118 children with retinoblastoma treated at Sankara Eye Hospital in India between 2008-2013 to identify factors influencing morbidity and mortality. The average age at presentation was 5.14 years. Late stage disease (Groups D and E), delays in treatment over 6 months, and recurrence led to higher mortality. Multimodal treatments preserved eye anatomy in 98.3% of cases. Late recurrence within 2 years was common and often fatal. Early diagnosis and intervention can improve outcomes for retinoblastoma in India.
Dr. Laxmi Shrikhande is a leading fertility expert in India. She has held numerous leadership positions in national obstetrics and gynecology societies. Some of her accomplishments include receiving awards for women's health, publishing over 30 papers nationally and internationally, and conducting health programs that have reached over 25,000 women and girls. She is the Medical Director of Shrikhande Fertility Clinic in Nagpur, India.
Cell Free Fetal DNA Non Inavasive Prenatal Diagnostic Methods and ApplicationsMayuri N Jagtap
Noninvasive prenatal testing (NIPT) has become possible to identify cell free fetal DNA (cffDNA) in maternal bloodstream. The effective implementation of noninvasive testing into a clinical practice such as fetal sex detection, RhD genotyping and fetal chromosomal aneuploidy detection have been enabled by the technical advances in molecular analysis of fetal DNA (e.g., digital polymerase chain reaction (PCR) and massively parallel sequencing (MPS) in early years. cffDNA technology has significant superiority as difference compared to routine serum sample screening by means of it has high accuracy and sensitivity. Though, cffDNA positive results still need validation by the invasive testing. The main purpose of cell free fetal DNA is to become first priority of NIPT option only due to its high accuracy rate and its safety. The ultimate goal is to develop the reliable method which could eventually swap invasive prenatal testing procedures. In maternal circulation with relatively high concentration the analysis of cell-free fetal DNA in plasma is one of the innovative non-invasive prenatal testing options. Recently Commercial tests for cell-free fetal DNA in maternal blood have become available. This review briefly summarizes the technical aspects of the noninvasive prenatal testing along with analysis of cffDNA and application of it in clinical practice.
Next-generation sequencing is providing new insights into inherited retinal dystrophies. The following key points are made:
1) Current molecular diagnosis can identify the disease mechanism in 50-60% of nonsyndromic retinal dystrophy patients. Multiple pathogenic variants may be present.
2) Analysis of the ABCA4 gene, associated with Stargardt disease, has uncovered deep intronic mutations and rare combinations of mutations in multiple genes.
3) Interpretation of sequencing results is challenging due to the discovery of variants of uncertain significance and complications with inheritance patterns. Retinal dystrophy is becoming a model for studying the molecular basis of rare genetic diseases.
Open Frame Sequencing™ is a universal tool that allows planning comprehensive genetic diagnostics personalized for each Patient. This solution is dedicated to specialists who expect flexible approach, efficient cooperation and “tailor made” solutions in their daily work.
This study evaluated maternal and neonatal outcomes in 35 twin pregnancies complicated by a single intrauterine fetal death (IUFD) after 20 weeks of gestation. The key findings were:
1) Serious maternal complications were rare, with no cases of maternal disseminated intravascular coagulation (DIC). However, complications increased for the surviving twin, including anemia and DIC.
2) The perinatal mortality rate of 11.4% for the surviving twin was similar to twins without IUFD but more than double the rate quoted for multiple births without complications.
3) Prematurity, twin-to-twin transfusion syndrome, and sepsis were the main causes of death for the surviving
Elevated mitochondrial DNA copy number is observed in aneuploid embryos, indicating this parameter could become an additional tool for prioritizing embryo transfer. The study analyzed mitochondrial DNA copy number in 606 embryos using next generation sequencing and found higher numbers in aneuploid versus normal embryos. While most factors like embryo quality, sex, and patient age showed no correlation, implanted 5-day embryos had significantly higher mitochondrial DNA amounts than non-implanted embryos. This suggests mitochondrial DNA copy number may predict embryo viability and improve selection.
The American College of Obstetricians and Gynecologists (ACOG) issued new guidelines recommending that invasive prenatal testing, such as amniocentesis and chorionic villus sampling, should be offered to all pregnant women regardless of age. This expands access beyond the previous standard of only offering these tests to women 35 and older. The guidelines are intended to allow all women to make informed decisions about their pregnancies, but have also thrust ACOG into debates around disability acceptance and selective abortion. Some advocacy groups criticize that the medical community is not adequately prepared to discuss conditions like Down syndrome with expectant parents. The financial impact is unclear but costs of invasive testing are over $1000 each and widespread availability
Panorama Prenatal Screen | Brochure for Prospective PatientsNatera
Learn about the Panorama™ prenatal screen, a DNA screening test that can tell you important information about your pregnancy as early as nine weeks gestation.
The Level of Expression of Ki-67 in Invasive Cervical Cancers and Cervical I...Crimsonpublishers-IGRWH
The Level of Expression of Ki-67 in Invasive Cervical Cancers and Cervical Intraepithelial Neoplasia in Ghanaian Women by Ama Afrah in Womens Health Journal
This study analyzed aneuploidy rates, apoptotic markers, and DNA fragmentation in sperm samples from normozoospermic men with unexplained infertility. Samples underwent density gradient centrifugation and then magnetic activated cell sorting (MACS). MACS significantly reduced the percentage of aneuploid, apoptotic, and DNA-damaged sperm. A positive correlation was found between reduced aneuploidy and lower DNA damage after MACS, but no correlation with apoptotic markers. The interactions between apoptotic markers, DNA integrity, and aneuploidy, as well as the effects of MACS on these parameters, require further investigation.
This study evaluated the use of blastocyst biopsy and array comparative genomic hybridization (aCGH) for preimplantation genetic diagnosis in 12 patients with chromosomal translocations. The diagnostic efficiency was 90.2% and euploidy rate was 32.7%. Ten cycles of thawed embryo transfer resulted in three live births and three ongoing pregnancies, for an ongoing pregnancy rate of 60% per transfer cycle. Prenatal diagnoses confirmed the PGD/aCGH results. The strategy demonstrates promising outcomes and may provide a more effective approach than traditional methods like fluorescence in situ hybridization. Larger studies are still needed to verify the results.
Danish experiences with Chromosomal Micro-Array (CMA) in prenatal settings.
Since 2004, all Danish women are offered combined first trimester screening and anomaly scans. The use of CMA in Denmark has increased the detection rate of chromosomal abnormalities compared to traditional chromosome analysis. CMA is now considered the first-tier test for pregnancies with structural malformations, enlarged nuchal translucency, or unexplained growth issues. While CMA provides more information, it also returns more variants of unknown significance which require careful counseling and consideration in pregnancy management decisions.
This study explored strategies for screening for trisomy 21 using maternal blood cell-free DNA (cfDNA) testing and first trimester biomarkers. The study analyzed data from over 87,000 pregnancies to determine optimal risk cut-offs for various biomarker combinations that could identify women for cfDNA testing. Modeling suggested a contingent screening approach using initial combined first trimester screening followed by cfDNA testing for women at or above a 1:3,000 risk could achieve a detection rate of over 99% for trisomy 21 while greatly reducing invasive testing rates compared to current screening. This strategy was estimated to require cfDNA testing for only 3% of pregnancies.
This document discusses cyclinD1 and its role as a marker for oral cancer progression. It finds that cyclinD1 expression increases from normal epithelium to leukoplakia to oral squamous cell carcinoma. Higher cyclinD1 expression correlates with poorer tumor differentiation and worse patient outcomes like early death or recurrence. The study concludes that cyclinD1 overexpression may help identify high-risk oral cancer patients and serve as a prognostic marker.
This document discusses preimplantation genetic screening (PGS) using comprehensive chromosome screening (CCS) techniques like array comparative genomic hybridization (aCGH) to test embryos for chromosome abnormalities. It provides data from over 39,000 PGS procedures performed by Reprogenetics Laboratories showing that CCS-based PGS can double implantation rates and eliminate the negative impact of maternal age on implantation by selecting only euploid embryos for transfer. Randomized controlled trials show pregnancy rates are 20-30% higher with CCS-based PGS compared to untested embryos. The document concludes that CCS-based PGS has proven its ability to improve IVF outcomes by selecting embryos without chromosome abnormalities.
EPC_June-15_pp.52-55 (EPC Industry Advisor) (1)shelley bowers
The document discusses the challenges surrounding diagnosing and predicting the future of patients with variant Creutzfelt-Jakob disease (vCJD). Current diagnostic tools can only confirm the disease post-mortem and late in progression, providing little useful information for patients. New diagnostic techniques including nasal sampling and blood tests show promise but are still only effective for symptomatic patients. Wide-scale population testing raises ethical issues as many carriers may never develop symptoms but would suffer psychologically from a positive diagnosis. There are no treatments for vCJD, so early diagnosis remains a priority but challenges remain due to the properties of prions and low levels in the body.
exome sequencing improves genetic diagnosis of fetal increased nuchal translu...Võ Tá Sơn
This study analyzed exome sequencing results from 73 fetuses with isolated increased nuchal translucency but normal chromosomal microarray analysis. Exome sequencing identified pathogenic variants in 4 cases (5.5% diagnostic rate), including 3 de novo dominant variants and 1 recessive variant. Three of the 4 cases developed structural anomalies on later ultrasound. This shows exome sequencing can detect genetic conditions in some cases with increased nuchal translucency not detected by other tests, aiding parental counseling.
This method accurately detected sex chromosome aneuploidies (45,X, 47,XXY, 47,XYY) in cell-free DNA isolated from maternal plasma. It analyzed 201 pregnancies including 16 with sex chromosome aneuploidies and 185 normal controls. The method involved massively multiplexed PCR and sequencing of 19,488 SNPs across chromosomes 13, 18, 21, X and Y. Using a statistical algorithm to analyze the SNP data, it correctly identified the copy number at all five chromosomes in 93% of samples, detecting sex chromosome aneuploidies with high sensitivity and specificity.
Whole genome scanning, resolving clinical diagnosis and management amaist com...koda004
This document discusses the challenges of using whole genome scanning microarrays in clinical settings. It notes that while these technologies can revolutionize genetic diagnosis, the large amount of complex data they generate can complicate clinical utility and patient benefit. It highlights issues physicians and healthcare professionals will face as testing resolution increases towards full genome sequencing. Addressing these issues now and evolving healthcare systems in response will be important to avoid potential harms and realize benefits.
This randomized controlled trial tested whether performing blastocyst biopsy with comprehensive chromosome screening (CCS) improves in vitro fertilization (IVF) outcomes compared to routine care. They found:
1) Sustained implantation rates (probability of embryo implanting and resulting in delivery) and delivery rates per cycle were significantly higher in the CCS group compared to the routine care group.
2) In the CCS group, 61 of 72 treatment cycles led to delivery (84.7%) compared to 56 of 83 (67.5%) in the routine care group.
3) Use of CCS with blastocyst biopsy and rapid quantitative PCR-based screening resulted in statistically significantly improved IVF outcomes, with
This study analyzed 118 children with retinoblastoma treated at Sankara Eye Hospital in India between 2008-2013 to identify factors influencing morbidity and mortality. The average age at presentation was 5.14 years. Late stage disease (Groups D and E), delays in treatment over 6 months, and recurrence led to higher mortality. Multimodal treatments preserved eye anatomy in 98.3% of cases. Late recurrence within 2 years was common and often fatal. Early diagnosis and intervention can improve outcomes for retinoblastoma in India.
Dr. Laxmi Shrikhande is a leading fertility expert in India. She has held numerous leadership positions in national obstetrics and gynecology societies. Some of her accomplishments include receiving awards for women's health, publishing over 30 papers nationally and internationally, and conducting health programs that have reached over 25,000 women and girls. She is the Medical Director of Shrikhande Fertility Clinic in Nagpur, India.
Cell Free Fetal DNA Non Inavasive Prenatal Diagnostic Methods and ApplicationsMayuri N Jagtap
Noninvasive prenatal testing (NIPT) has become possible to identify cell free fetal DNA (cffDNA) in maternal bloodstream. The effective implementation of noninvasive testing into a clinical practice such as fetal sex detection, RhD genotyping and fetal chromosomal aneuploidy detection have been enabled by the technical advances in molecular analysis of fetal DNA (e.g., digital polymerase chain reaction (PCR) and massively parallel sequencing (MPS) in early years. cffDNA technology has significant superiority as difference compared to routine serum sample screening by means of it has high accuracy and sensitivity. Though, cffDNA positive results still need validation by the invasive testing. The main purpose of cell free fetal DNA is to become first priority of NIPT option only due to its high accuracy rate and its safety. The ultimate goal is to develop the reliable method which could eventually swap invasive prenatal testing procedures. In maternal circulation with relatively high concentration the analysis of cell-free fetal DNA in plasma is one of the innovative non-invasive prenatal testing options. Recently Commercial tests for cell-free fetal DNA in maternal blood have become available. This review briefly summarizes the technical aspects of the noninvasive prenatal testing along with analysis of cffDNA and application of it in clinical practice.
Next-generation sequencing is providing new insights into inherited retinal dystrophies. The following key points are made:
1) Current molecular diagnosis can identify the disease mechanism in 50-60% of nonsyndromic retinal dystrophy patients. Multiple pathogenic variants may be present.
2) Analysis of the ABCA4 gene, associated with Stargardt disease, has uncovered deep intronic mutations and rare combinations of mutations in multiple genes.
3) Interpretation of sequencing results is challenging due to the discovery of variants of uncertain significance and complications with inheritance patterns. Retinal dystrophy is becoming a model for studying the molecular basis of rare genetic diseases.
Open Frame Sequencing™ is a universal tool that allows planning comprehensive genetic diagnostics personalized for each Patient. This solution is dedicated to specialists who expect flexible approach, efficient cooperation and “tailor made” solutions in their daily work.
This study evaluated maternal and neonatal outcomes in 35 twin pregnancies complicated by a single intrauterine fetal death (IUFD) after 20 weeks of gestation. The key findings were:
1) Serious maternal complications were rare, with no cases of maternal disseminated intravascular coagulation (DIC). However, complications increased for the surviving twin, including anemia and DIC.
2) The perinatal mortality rate of 11.4% for the surviving twin was similar to twins without IUFD but more than double the rate quoted for multiple births without complications.
3) Prematurity, twin-to-twin transfusion syndrome, and sepsis were the main causes of death for the surviving
Elevated mitochondrial DNA copy number is observed in aneuploid embryos, indicating this parameter could become an additional tool for prioritizing embryo transfer. The study analyzed mitochondrial DNA copy number in 606 embryos using next generation sequencing and found higher numbers in aneuploid versus normal embryos. While most factors like embryo quality, sex, and patient age showed no correlation, implanted 5-day embryos had significantly higher mitochondrial DNA amounts than non-implanted embryos. This suggests mitochondrial DNA copy number may predict embryo viability and improve selection.
The American College of Obstetricians and Gynecologists (ACOG) issued new guidelines recommending that invasive prenatal testing, such as amniocentesis and chorionic villus sampling, should be offered to all pregnant women regardless of age. This expands access beyond the previous standard of only offering these tests to women 35 and older. The guidelines are intended to allow all women to make informed decisions about their pregnancies, but have also thrust ACOG into debates around disability acceptance and selective abortion. Some advocacy groups criticize that the medical community is not adequately prepared to discuss conditions like Down syndrome with expectant parents. The financial impact is unclear but costs of invasive testing are over $1000 each and widespread availability
Panorama Prenatal Screen | Brochure for Prospective PatientsNatera
Learn about the Panorama™ prenatal screen, a DNA screening test that can tell you important information about your pregnancy as early as nine weeks gestation.
Prenatal testing to detect genetic flaws to be launchedNursing Hi Nursing
A new non-invasive prenatal testing method is being launched in India that can detect chromosomal and genetic disorders like Down syndrome through a blood test of the mother, avoiding the risks of invasive testing. Currently 32,000 babies with Down syndrome are born in India each year. A study of 500 pregnant women found the new method was safer and could qualify as an advanced screening option. The testing identifies cell-free fetal DNA in the mother's blood and will help detect intellectual disabilities and other potential diseases in children.
Prenatal diagnosis involves identifying fetal abnormalities through tests such as ultrasound scans and blood tests. Fetal therapy aims to improve the fetal environment through procedures like blood transfusions. First trimester screening for Down syndrome includes assessing the mother's age, measuring the fetal nuchal translucency, and testing maternal serum markers. Combining these factors provides a 79-87% detection rate. Additional markers like absent nasal bone and abnormal ductus venosus or tricuspid valve Doppler flows may further refine risk assessment. Genetic counseling is an important part of the screening and diagnostic process to help expectant families understand risks and make informed decisions.
This document discusses various prenatal diagnostic techniques including maternal serum screening, ultrasound, amniocentesis, chorionic villus sampling, and cordocentesis. Amniocentesis and chorionic villus sampling allow for karyotyping and molecular diagnosis but carry risks of procedure-related pregnancy loss. Cordocentesis permits rapid diagnosis via fetal blood but has a higher loss risk than amniocentesis. The timing and indications of each technique are outlined.
Genetic counseling involves helping individuals understand genetic disorders and risks within their family. It provides information on inheritance, available testing and management options. The document outlines the process of genetic counseling including taking a family history, constructing a pedigree, assessing risks, communicating diagnoses and management plans. It discusses various clinical situations where genetic counseling is important and types such as prenatal and pediatric. Prenatal diagnosis techniques like amniocentesis and chorionic villus sampling are described which allow for testing the fetus for genetic conditions. The goal of genetic counseling is to enable informed decision making for families impacted by genetic disorders.
This document discusses genetic counseling and prenatal diagnosis. It defines genetic counseling as a process to help individuals understand genetic disorders and make informed decisions. Key points covered include:
- The goals and steps of genetic counseling
- Indications for genetic counseling such as family history of disorders
- Types of genetic counseling including prenatal and pediatric
- Methods of prenatal diagnosis including ultrasound, amniocentesis and chorionic villus sampling
- Risks and procedures for different prenatal tests
1. Prenatal screening and diagnostic techniques allow for the detection of fetal chromosomal abnormalities and genetic disorders. Techniques include first and second trimester screening, cell-free DNA screening, chorionic villus sampling, amniocentesis, and cordocentesis.
2. First trimester screening incorporates factors like maternal age, nuchal translucency, and biochemical markers. Second trimester screening analyzes maternal serum markers. Cell-free DNA screening analyzes fetal DNA in maternal blood. Invasive techniques like CVS and amniocentesis allow for karyotyping.
3. Genetic counseling is recommended to discuss family histories, risk factors, screening results
This document summarizes a presentation on non-invasive prenatal testing (NIPT). The presentation describes the history and current techniques used for NIPT, including analyzing cell-free fetal DNA from maternal plasma using massively parallel sequencing. It reviews the performance of NIPT in detecting common trisomies like Trisomy 21, with detection rates over 99% and low false positive rates. The presentation discusses the potential for NIPT to be expanded to more conditions and become a primary screening for all pregnancies.
This document provides an overview of prenatal screening and diagnosis of neural tube defects and Down syndrome. It discusses the incidence, risk factors, screening tests, and diagnostic evaluation for neural tube defects including ultrasound, maternal serum AFP testing, amniocentesis, and fetal MRI. Prenatal screening tests for aneuploidies like Down syndrome are also covered, including first trimester ultrasound, maternal serum markers, and integrated screening. Prevention through folic acid supplementation and pregnancy management options are summarized.
Blood test for detecting fetal abnormalities gaining interestBest care Lab
A non-invasive maternal blood test that can detect certain fetal chromosomal disorders, including Down syndrome, early in pregnancy is improving some skill of attention as a potential new method of prenatal screening. Currently, several organizations support its use in pregnant women at high risk of having a child with a disorder caused by an abnormal number of chromosomes. However, invasive diagnostic tests, such as chorionic villus sampling (CVS) and amniocentesis, are needed to confirm the results, still.
This document discusses prenatal testing for fetal chromosomal abnormalities like Down syndrome, Edwards syndrome, and Patau syndrome. It provides information on the prevalence of these disorders, describes routine prenatal diagnostic methods including invasive and non-invasive options, and examines a new non-invasive prenatal diagnosis technique using cell-free fetal DNA from maternal blood. The document presents several clinical cases demonstrating the accuracy of this non-invasive prenatal testing and its advantages over other options.
RT2 Profiler PCR Arrays are a real-time PCR technology that allows researchers to study gene expression patterns across biological pathways and processes. The arrays contain pre-designed primer assays for 84 relevant genes as well as controls on a single plate in a 96-well format. The gene content of the arrays is selected based on biological relevance and published associations with relevant pathways. The primer assays on the arrays undergo extensive validation for sensitivity, specificity, reproducibility, and amplification efficiency. The PCR Array system also includes optimized components for RNA isolation, cDNA synthesis, and real-time PCR to provide a complete validated workflow for gene expression analysis from sample to results.
Polymerase chain reaction (PCR) is a technique used to amplify a specific DNA sequence. There are several factors to consider when designing primers for PCR, including length of 18-30 nucleotides, melting temperature between 65-75°C, GC content of 40-60%, and avoiding repeats or secondary structures. Real-time PCR uses fluorescent dyes and probes to quantify the amount of DNA produced during each cycle. SYBR Green binds double-stranded DNA produced and fluorescence increases with more DNA, while TaqMan probes have a reporter dye separated from a quencher until the probe is cleaved during PCR. To amplify RNA via PCR, it is first converted to cDNA using reverse transcriptase, then the cDNA
This document discusses factors that impact gene expression analysis and describes various amplification consumables from Bio-Rad Laboratories. It covers RNA isolation kits that purify RNA from different sample types and ensure DNA removal. It also discusses reagents for reverse transcription and real-time qPCR that provide accurate cDNA synthesis and sensitive detection. Finally, it mentions PCR plastic consumables that are compatible with instrumentation and avoid contamination.
This document discusses prenatal genetics counseling and testing. It covers assessing risk factors like maternal age and family history. Common screening tests like maternal serum screening and ultrasound are described. Specific genetic disorders are reviewed including autosomal dominant, recessive, and X-linked conditions. Ethnic backgrounds that confer higher risk for certain disorders are noted. The document also discusses new developments in prenatal screening technologies.
Practice Bulletin #226, Screening for Chromosomal AbnormalitiesVõ Tá Sơn
Practice Bulletin #226, Screening for Chromosomal Abnormalities,
Hướng dẫn sàng lọc các bất thường nhiễm sắc thể
ACOG & SMFM 2020
Bs Võ Tá Sơn
0978846100 zalo
This study compared two methods for screening embryo cells for chromosomal abnormalities: fluorescence in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarray analysis. Thirteen arrested embryos were each biopsied into individual cells, with 160 cells total randomized into the two screening methods. Microarray analysis provided interpretable results for more cells (96% vs 83% for FISH) and detected mosaicism (differences between cells of the same embryo) significantly less often than FISH (31% vs 100%). Direct comparison found FISH detected more unique genetic diagnoses per embryo on average. This is the first study to directly compare these two screening methods using paired cells from the same embryos, suggesting FISH may
The Potential Impact of Preimplantation Genetic Diagnosis on Discrimination o...blaine_5
The argument that selection against specific genetic traits will lead to increased discrimination is both compelling and troubling. Indeed, it is reasonable to conclude that if a large number of people use PGD to select against traits they consider to be disabilities then the probability of increased discrimination and marginalization would be greatly increased. However, as this Note argues, most participants in the PGD disability debate overlook important limitations of both trait selection and large-scale PGD adoption that will likely mitigate the negative potentially negative impact of PGD technology.
This document discusses the potential for remote delivery of genetic counseling through telemedicine. It notes that demand for genetic counselors is outpacing supply. The document proposes building a comprehensive platform to enable remote genetic testing, counseling, and follow-up. Key components would include educational tools and counseling sessions delivered virtually. Over time, the goal is to develop more automated solutions using advanced algorithms. This could help address the shortage of genetic counselors and improve access to genetic testing and counseling services.
This study investigated the incidence and clinical implications of multinucleated (MN) blastomeres in embryos undergoing preimplantation genetic screening (PGS) or preimplantation genetic diagnosis (PGD). The study found that 41.3% of cycles involved at least one MN embryo. While the majority of MN blastomeres showed chromosomal abnormalities, some embryos with MN blastomeres free of genetic abnormalities tested resulted in three healthy deliveries. This suggests that genetic analysis of MN embryos can identify some that may result in healthy births.
Introduction: Preimplantation genetic screening is alive and very well. Meldr...鋒博 蔡
This document compares different technologies for 24-chromosome copy number analysis in preimplantation genetic screening and diagnosis. It discusses the differences between screening and diagnostic tests, with screening tests being noninvasive, rapid and lower cost to select embryos, while diagnostic tests require higher accuracy. Technologies reviewed include fluorescence in situ hybridization, comparative genomic hybridization, array comparative genomic hybridization and next generation sequencing, with array CGH currently being the most widely used due to its accuracy and ability to analyze all chromosomes.
This document compares different technologies for 24-chromosome copy number analysis in preimplantation genetic screening and diagnosis. It discusses the differences between screening and diagnostic tests, with screening tests being noninvasive, low-cost and allowing analysis of all patients to prioritize embryos, while diagnostic tests require high accuracy. It reviews technologies for copy number analysis including chromosome spreading, array comparative genomic hybridization, quantitative PCR and next generation sequencing, discussing their advantages and limitations for screening and diagnosis.
Noninvasive prenatal testing (NIPT) using cell-free DNA analysis has high sensitivity and specificity for detecting fetal aneuploidies. However, it is an advanced screening test, not a diagnostic, and some false positives and negatives will occur. While promising, NIPT was rapidly commercialized with limited clinical validation and oversight. Guidelines on appropriate use are needed to ensure patients understand the limitations and implications of positive results. Currently, the best use of NIPT may be as a follow up to conventional screening for high-risk women, though more data is still needed, especially in average risk populations.
Initial Lessons From Implementing a Telecolposcopy Program on a High Risk Pop...MobileODT
Initial findings from a study on implementing a telecolposcopy program on a high-risk population in California showed that:
1) Experts were able to assist junior providers remotely and provide guidance in real-time during colposcopy procedures through a mobile telecolposcopy system.
2) Both patients and providers reacted positively to the use of live remote expert supervision during telecolposcopy exams.
3) Preliminary results suggest telecolposcopy is a feasible approach when integrated into a mobile colposcopy system and may help address lack of in-person colposcopy services, especially for underserved populations.
This document summarizes two scientific studies on chromosome defects and genetic diseases. The first study discovered a chromosome therapy technique to correct severe chromosome defects by replacing an abnormal ring chromosome with a normal duplicated chromosome in stem cells. This could help repair birth defects. The second study found that analyzing chromatin architecture, the organization of DNA and proteins in chromosomes, could help identify regulatory DNA anomalies and better diagnose genetic diseases, since DNA sequencing alone is insufficient. This discovery paves the way for improved understanding and diagnosis of many genetic conditions.
Preimplantation genetic screening (pgs) current ppt2鋒博 蔡
This document discusses the ethical challenges of preimplantation genetic diagnosis (PGD), which allows in vitro fertilization patients to test embryos for genetic abnormalities or traits before implantation. PGD is presented as a powerful new technology that raises concerns about safety, access, and its societal effects. The document outlines the technical process of PGD and surveys both its potential benefits in selecting healthy embryos and risks if not properly regulated. It concludes that as a society we must determine whether and how PGD should be used given its ability to influence the genetic characteristics of children.
Preimplantation genetic screening (pgs) current ppt2鋒博 蔡
This document discusses the ethical challenges posed by preimplantation genetic diagnosis (PGD), a technique that allows in vitro fertilized embryos to be tested for genetic abnormalities before implantation. PGD raises issues regarding safety, effectiveness, access and costs, and its use could enable parents to select genetic traits of children. While PGD may help avoid genetic diseases and infertility issues, it also allows deeper technological intervention in human reproduction and raises concerns about a future with more choice over genetic characteristics. The document examines policy options for governing the development and use of PGD to encourage public discussion and facilitate regulation of this emerging technology.
1. Neuroblastoma is a cancer of the sympathetic nervous system that is most common in children under 5 years old. It ranges from low to high risk based on tumor biology and staging.
2. Diagnosis involves biopsy of the primary tumor followed by imaging to determine staging. The tumor is then classified based on features like cell differentiation and Schwannian stroma content.
3. Presentation depends on tumor location and can include non-specific symptoms like abdominal mass or pain, or syndromes related to nerve involvement like Horner's syndrome.
Genetic screening and prenatal diagnostics involve analyzing DNA, proteins, and metabolites to detect heritable diseases and conditions. There are several types of genetic testing methodologies including cytogenetic testing of chromosomes, biochemical testing of proteins, and molecular testing of DNA sequences. Prenatal screening can occur in the first or second trimester of pregnancy and may involve chorionic villus sampling, amniocentesis, or ultrasound to check the health of the developing baby. While genetic testing can enable early detection and prevention of diseases, it also carries risks of increased anxiety, distress over family relations, and feelings of guilt from positive or negative results.
Gyula Richard Nagy: Prenatal diagnostic methodsKatalin Cseh
This document discusses prenatal diagnostic methods. It covers several topics:
- The objectives of prenatal diagnosis, which include detecting abnormalities, allowing termination if desired, and providing informed choices to couples.
- Invasive diagnostic methods like amniocentesis and chorionic villus sampling, which allow testing the fetus but carry risks of miscarriage.
- Non-invasive methods like ultrasound and cell-free DNA testing from maternal blood, which do not risk the pregnancy but have limitations.
- The various indications for offering prenatal diagnosis based on factors like advanced maternal age, family history, ultrasound findings, and maternal health issues.
Cell-free fetal DNA was first discovered in maternal plasma in 1997 and can now be used for non-invasive prenatal diagnosis and testing through methods like massively parallel next-generation sequencing. Current applications of cell-free fetal DNA analysis include determining fetal sex, blood group, and screening for fetal aneuploidies and single-gene disorders. While performance is high, factors like fetal fraction and placental mosaicism can influence test accuracy and result in false positives or negatives in some cases. As the technology advances, the uses of non-invasive prenatal testing through analysis of cell-free fetal DNA continue to expand.
The document discusses screening and diagnosis of chromosomal defects in pregnancies. It notes that:
- Screening can be done by assessing maternal age, fetal nuchal translucency thickness on ultrasound, and maternal serum markers. This can identify 75-90% of chromosomal defects like trisomy 21.
- Invasive diagnosis requires procedures like chorionic villus sampling or amniocentesis, which carry a small risk of miscarriage. These should only be done by trained practitioners.
- New methods continue to be developed to improve non-invasive screening, but so far examination of fetal cells in maternal blood is mainly useful for risk assessment rather than diagnosis. Assessment of cell-free fetal DNA
Similar to Controversies in prenatal diagnosis 3 should everyone (20)
This document discusses urinary tract injuries that can occur during laparoscopic gynecological surgery. It notes that bladder injury is the most common major complication. Prevention strategies include catheterization before trocar insertion, using the lowest effective power for electrosurgery, and identifying bladder boundaries. Injuries may be recognized intraoperatively through direct visualization, cystoscopy, or instilling dye. Postoperative recognition involves symptoms like pain and hematuria. Management often involves laparoscopic repair by a gynecologist or urologist to avoid additional morbidity of laparotomy.
This study retrospectively analyzed 65 cases of unusual ectopic pregnancies out of 1000 total ectopic pregnancy cases over a 10-year period. The study found that ovarian pregnancies were associated with intrauterine device placement and pelvic inflammatory diseases. Extratubal ectopic pregnancies like those in the ovaries, cervix, and abdomen presented more serious symptoms and had higher misdiagnosis rates than tubal pregnancies. Most unusual ectopic pregnancies required surgery for treatment, though some early cervical and corneal pregnancies were treated with conservative methods like mifepristone and methotrexate or curettage.
This document discusses the role of tubal patency tests and tubal surgery in the era of assisted reproductive techniques. It reviews evidence on various tubal patency tests like laparoscopy, hysterosalpingogram, hysterosalpingo contrast sonography, and their advantages and limitations. While laparoscopy is considered the gold standard, it requires general anesthesia and carries surgical risks. Hysterosalpingogram is widely available but less accurate and exposes patients to radiation. Hysterosalpingo contrast sonography provides images without radiation but may be limited in some patients. The document concludes that in vitro fertilization has largely replaced tubal surgery as it offers better success rates and can be done on an out
This document summarizes recent advances in endocrine therapy for breast cancer. Key findings from clinical trials show that aromatase inhibitors are superior to tamoxifen for postmenopausal women, 10 years of tamoxifen is better than 5 years for premenopausal women, and combining mTOR inhibitors like everolimus with hormonal therapies improves outcomes. New trials also found fulvestrant works as well as aromatase inhibitors for first-line metastatic disease. Combining fulvestrant and exemestane was more effective than single agents. Exemestane was also found to reduce invasive breast cancers in prevention settings.
This document summarizes a study that evaluated the effects of various maternal, fetal, and technical factors on the accuracy of sonographic fetal weight estimation (SFWE). The study analyzed over 9,000 SFWEs performed within a week of delivery. It found that several maternal factors, including higher weight, height, BMI, older age, diabetes, and multiparity were associated with underestimation of fetal weight. Fetal factors like male sex were also linked to underestimation, while breech presentation slightly improved accuracy. Experience level of the sonographer had little effect. Overall, the models assessed explained less than 10% of errors, suggesting most inaccuracy comes from limitations of SFWE formulas themselves.
This study examined the effects of mechanical cervical dilation using laminaria tents for women with premature rupture of membranes (PROM) at term. The study compared outcomes between women who received laminaria tent insertion for unfavorable cervical ripening prior to 2010 (group 1) and women managed without laminaria tents after 2010 (group 2). The results found no significant differences between the groups in maternal and neonatal outcomes such as infection rates, time to delivery, Apgar scores, or umbilical cord pH levels. Mechanical cervical dilation did not increase infection risks or improve perinatal prognosis, providing no clear benefits for women with PROM at term.
This document discusses selective progesterone receptor modulators (SPRM) and their uses in gynecology. It provides background on the initial development of mifepristone as a progesterone receptor antagonist in the 1980s. More recently, ulipristal acetate, a SPRM, has been licensed for emergency contraception and as a preoperative treatment for uterine fibroids. The document outlines the mechanism of action of SPRMs as having mixed agonist and antagonist effects on progesterone receptors. It also summarizes recent clinical trials showing ulipristal acetate to be an effective alternative to gonadotropin-releasing hormone analogues for preoperative treatment of uterine fibroids, with reduced side effect profiles compared to analogues.
This study assessed satisfaction in 89 women who underwent concurrent pelvic organ prolapse (POP) repair and midurethral sling placement to treat stress urinary incontinence (SUI). At the 1-year follow-up, 72% of patients had complete cure of both POP and SUI, while 17% and 10% had persistent SUI or POP respectively. Overall, 88% reported being satisfied. Patients who achieved complete cure of both conditions had a 95% satisfaction rate, while 40% were dissatisfied if SUI was not cured and 22% if POP was not cured. The only outcome measure correlated with satisfaction was improvement in vaginal bulge symptoms. The study highlights the complex relationship between surgical outcomes and patient
1) The document discusses retinoids, which are known to be teratogenic when used during pregnancy. Isotretinoin in particular is used to treat severe acne but has significant risks of causing fetal malformations.
2) When isotretinoin is prescribed to women of childbearing age, a pregnancy prevention programme is implemented to prevent exposure during treatment and for at least one month after. However, pregnancies still occasionally occur despite these measures.
3) The main teratogenic effects of isotretinoin exposure during pregnancy include craniofacial, central nervous system, cardiovascular and thymic abnormalities in the developing fetus. Management of pregnancies with recent isotretinoin exposure involves counseling and potential
This study assessed resilience, depressed mood, and menopausal symptoms in 169 postmenopausal women aged 48-68 years. 45% of women had depressed mood and 35% had severe menopausal symptoms. Women with less resilience had higher depressed mood scores and more severe menopausal symptoms. Multiple regression identified two models: 1) Resilience scores correlated inversely with depressed mood and positively with regular exercise. 2) Depressed mood scores correlated positively with somatic and psychological menopausal symptom scores and inversely with resilience. This study suggests depressed mood and menopausal symptoms are associated with lower resilience in postmenopausal women, while exercise is linked to higher resilience.
This document discusses risk factors for early childhood obesity from a prenatal care perspective. It identifies several risk factors that occur before or immediately after birth, including maternal obesity, excessive weight gain during pregnancy, smoking during pregnancy, and bottle feeding rather than breastfeeding. The document provides evidence from multiple studies on how each of these factors increases the risk of a child being overweight or obese. It emphasizes that prenatal care provides an opportunity for healthcare providers to educate mothers on these risks and support behaviors like maintaining a healthy weight, smoking cessation, limiting weight gain during pregnancy, and breastfeeding to help decrease the likelihood of early childhood obesity.
Nerve injuries are a common complication of gynaecological surgery, occurring in 1.1-1.9% of cases. The femoral, ilioinguinal, pudendal, obturator, lateral cutaneous, iliohypogastric and genitofemoral nerves are most commonly injured during surgery due to patient mal-positioning, incorrect retractor placement, haematoma formation, or direct nerve entrapment or transection. While most neuropathies resolve with conservative management, selective serotonin reuptake inhibitors or other medications may help manage painful neuropathies.
This document discusses progress towards Millennium Development Goal 4 (MDG4) of reducing child mortality. While overall progress has been made, neonatal mortality rates have declined more slowly. Simple, low-cost interventions like kangaroo mother care, neonatal resuscitation, and breastfeeding can significantly reduce neonatal deaths. However, implementation faces barriers like lack of healthcare workers, cultural practices, financial barriers to care, and poor quality of services. Political will is needed to fully achieve MDG4 targets through strengthened health systems and addressing inequities between regions.
This document discusses litigation in the field of gynaecology. It begins by noting that obstetrics and gynaecology has a reputation as a highly litigious specialty. It then discusses some of the common reasons why doctors are sued, including accountability, the need for explanation, concern over standards of care, and compensation. The document outlines the typical stages of a medical claim and summarizes several important legal cases that have influenced medico-legal rulings. It also discusses factors that commonly lead to claims in gynaecology, such as issues with consent, sterilization procedures, and laparoscopic surgeries.
This study examined the effects of adding estradiol valerate (EV) to clomiphene citrate (CC)-stimulated cycles on endometrial thickness. Thirty women received CC for ovulation induction in two treatment cycles, with one group also receiving a placebo and the other group receiving additional EV. While CC alone slightly reduced endometrial thickness, the addition of EV significantly increased thickness compared to CC with placebo. EV especially improved endometrial thickness in women where CC caused thinning, but had little effect where thickness was normal with CC alone. Other measures of folliculogenesis and ovulation were unaffected by EV. The study concluded EV prevents CC-induced endometrial thinning without disrupting the ovulation process.
This document reviews studies that have assessed the biomechanical properties of the uterine cervix during pregnancy using various quantitative methods. It discusses how elastography techniques have been applied to measure cervical deformability but have not demonstrated an ability to predict delivery timing. Measurement of maximum cervical deformability (cervical consistency index) provided more meaningful results, showing increased compliance with gestational age. Aspiration measurements also found a progressive decrease in cervical stiffness along gestation. Cervical consistency index and aspiration measurements are promising for quantitative assessment of changing cervical biomechanics during pregnancy.
This document discusses how functional echocardiography can assess cardiac function in fetuses with non-cardiac diseases or conditions that impact the fetus. It provides details on:
1) How ultrasound can evaluate various aspects of fetal cardiac function like cardiac output, size, contractility, and diastolic function.
2) Examples of conditions that can alter fetal hemodynamics like intrauterine growth restriction (IUGR), tumors, twin-twin transfusion syndrome, and maternal diabetes. In IUGR, changes in the umbilical artery and ductus venosus occur as placental function declines.
3) Insights from evaluating these conditions, such as how IUGR fetuses develop a dominant left
This document summarizes a presentation on whether incidental findings from prenatal testing should always be reported to patients. It discusses the case for reporting all incidental findings by defining what incidental findings are and outlining the purpose and goals of prenatal diagnosis. It then applies principles of medical ethics including autonomy, beneficence, non-maleficence, and justice to argue that incidental findings of known clinical significance that are actionable should be reported. It acknowledges the difficulty of incidental findings of unknown significance but still argues they should be shared with parents so they can make informed decisions. Finally, it addresses concerns about discovering late-onset untreatable diseases and risks of anxiety, but concludes that an ethical approach is to
This document discusses the potential for noninvasive prenatal DNA testing (NIDT) to become the standard screening test for Down syndrome in all pregnant women. It presents perspectives both for and against this proposition. Those in favor argue that NIDT has higher accuracy and lower risk than current invasive screening tests, so it respects patient autonomy and informed choice better. However, others are more cautious and want more data on costs and outcomes before widely implementing NIDT as the standard of care for all pregnancies. Overall the debate centers on whether NIDT should replace current screening paradigms or be offered as an additional option based on its advantages over existing tests.
This cross-sectional study examined gestational weight gain and perinatal outcomes in 1462 pregnant women in southern India. The study found that 37.41% of women gained less than the recommended weight based on IOM guidelines, while 21.41% gained more. Less than optimal weight gain was associated with a higher risk of preterm delivery (adjusted odds ratio 3.58). However, gestational weight gain was not significantly associated with other maternal or neonatal outcomes. This suggests the IOM guidelines may not be an appropriate standard for monitoring gestational weight gain in this population.
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
We’re talking about Vedic Meditation, a form of meditation that has been around for at least 5,000 years. Back then, the people who lived in the Indus Valley, now known as India and Pakistan, practised meditation as a fundamental part of daily life. This knowledge that has given us yoga and Ayurveda, was known as Veda, hence the name Vedic. And though there are some written records, the practice has been passed down verbally from generation to generation.
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
ABDOMINAL TRAUMA in pediatrics part one.drhasanrajab
Abdominal trauma in pediatrics refers to injuries or damage to the abdominal organs in children. It can occur due to various causes such as falls, motor vehicle accidents, sports-related injuries, and physical abuse. Children are more vulnerable to abdominal trauma due to their unique anatomical and physiological characteristics. Signs and symptoms include abdominal pain, tenderness, distension, vomiting, and signs of shock. Diagnosis involves physical examination, imaging studies, and laboratory tests. Management depends on the severity and may involve conservative treatment or surgical intervention. Prevention is crucial in reducing the incidence of abdominal trauma in children.
TEST BANK For Community Health Nursing A Canadian Perspective, 5th Edition by...Donc Test
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These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Here is the updated list of Top Best Ayurvedic medicine for Gas and Indigestion and those are Gas-O-Go Syp for Dyspepsia | Lavizyme Syrup for Acidity | Yumzyme Hepatoprotective Capsules etc
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.