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The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive functioning. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms.
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Pgd 121115232648-phpapp02 (2)
Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. As a woman's age increases, so does the risk of chromosomal issues in embryos. Preimplantation genetic diagnosis (PGD) allows testing of embryos for chromosomal or genetic disorders before implantation, improving IVF outcomes. It involves removing a cell from 8-cell stage embryos and analyzing the DNA or chromosomes to identify healthy embryos for transfer. PGD is recommended for advanced maternal age, recurrent miscarriages, infertility or prior pregnancies with abnormalities.
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This document discusses several potential technologies for identifying viable oocytes, including polar body biopsy, spindle imaging, and zona pellucida birefringence. Polar body biopsy and array comparative genomic hybridization can be used to assess chromosomal disorders in oocytes. Spindle imaging using polarization microscopy can identify the meiotic stage of an oocyte. Zona pellucida birefringence imaging using polarization microscopy provides information on cytoplasmic maturity, with more structured zonae correlating with better developmental potential. These technologies, especially polar body biopsy, spindle imaging, and zona imaging, may help select the most implantation-competent embryos.
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Cordes sao paulo_29_11
This document provides a summary of developments in reproductive medicine presented by T. Cordes and K. Diedrich from the University of Schleswig-Holstein, Campus Lübeck, Germany. It discusses milestones from 1960 to present including IVF in 1970, cryopreservation in 1980, and ICSI in 1990. New developments discussed include the use of GnRH antagonists and long acting FSH for ovarian stimulation, elective single embryo transfer to reduce multiple births, blastocyst culture, and preimplantation genetic screening. In-vitro maturation is presented as an alternative for certain patient groups. Cryopreservation methods including vitrification are also summarized.
Preimplantation genetic screening (pgs) current ppt
This document summarizes preimplantation genetic testing techniques used to screen embryos for genetic disorders prior to implantation. It discusses the current status and future prospects of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). PGD determines an embryo's genotype to identify genetic disorders, while PGS assesses the embryo's chromosome number (karyotype) to screen for aneuploidies. The document outlines several techniques used for PGD and PGS, including multiplex PCR, fluorescence in-situ hybridization (FISH), whole genome amplification via multiple displacement amplification, and intracytoplasmic sperm injection (ICSI). It also discusses milestones in the development of
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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.
Other potential definitions of success in art itt, et, (1)
This document discusses success rates for IVF/ICSI treatment and strategies to improve the patient experience. It notes that only 50% of couples will achieve an ongoing pregnancy within 1 year of starting treatment. Risks like ovarian hyperstimulation syndrome are discussed. The importance of patient selection, stimulation protocols, and embryo transfer techniques are covered. The document advocates for single embryo transfer to reduce multiples while maintaining pregnancy rates. It also stresses providing patients with information to manage expectations and improve the IVF experience.
Ivf and pgd 23 2-11
This document discusses invitro fertilization (IVF) and pre-implantation genetic diagnosis (PGD). PGD involves testing embryos for genetic diseases prior to implantation. It can reduce miscarriage rates and allow parents to select embryos without diseases. However, it also enables selection based on non-medical traits and discarding of embryos, raising ethical issues. Views on the morality of embryo research and genetic selection vary between utilitarian, rights-based ethics and different religious perspectives. International policies also differ in their regulation of PGD and genetic selection.
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Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. As a woman's age increases, so does the risk of chromosomal issues in embryos. Preimplantation genetic diagnosis (PGD) allows testing of embryos for chromosomal or genetic disorders before implantation, improving IVF outcomes. It involves removing a cell from 8-cell stage embryos and analyzing the DNA or chromosomes to identify healthy embryos for transfer. PGD is recommended for advanced maternal age, recurrent miscarriages, infertility or prior pregnancies with abnormalities.
L5 key slides montag
This document discusses several potential technologies for identifying viable oocytes, including polar body biopsy, spindle imaging, and zona pellucida birefringence. Polar body biopsy and array comparative genomic hybridization can be used to assess chromosomal disorders in oocytes. Spindle imaging using polarization microscopy can identify the meiotic stage of an oocyte. Zona pellucida birefringence imaging using polarization microscopy provides information on cytoplasmic maturity, with more structured zonae correlating with better developmental potential. These technologies, especially polar body biopsy, spindle imaging, and zona imaging, may help select the most implantation-competent embryos.
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Cordes sao paulo_29_11
This document provides a summary of developments in reproductive medicine presented by T. Cordes and K. Diedrich from the University of Schleswig-Holstein, Campus Lübeck, Germany. It discusses milestones from 1960 to present including IVF in 1970, cryopreservation in 1980, and ICSI in 1990. New developments discussed include the use of GnRH antagonists and long acting FSH for ovarian stimulation, elective single embryo transfer to reduce multiple births, blastocyst culture, and preimplantation genetic screening. In-vitro maturation is presented as an alternative for certain patient groups. Cryopreservation methods including vitrification are also summarized.
Preimplantation genetic screening (pgs) current ppt
This document summarizes preimplantation genetic testing techniques used to screen embryos for genetic disorders prior to implantation. It discusses the current status and future prospects of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). PGD determines an embryo's genotype to identify genetic disorders, while PGS assesses the embryo's chromosome number (karyotype) to screen for aneuploidies. The document outlines several techniques used for PGD and PGS, including multiplex PCR, fluorescence in-situ hybridization (FISH), whole genome amplification via multiple displacement amplification, and intracytoplasmic sperm injection (ICSI). It also discusses milestones in the development of
1 s2.0-s0015028213027441-main
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.
Other potential definitions of success in art itt, et, (1)
This document discusses success rates for IVF/ICSI treatment and strategies to improve the patient experience. It notes that only 50% of couples will achieve an ongoing pregnancy within 1 year of starting treatment. Risks like ovarian hyperstimulation syndrome are discussed. The importance of patient selection, stimulation protocols, and embryo transfer techniques are covered. The document advocates for single embryo transfer to reduce multiples while maintaining pregnancy rates. It also stresses providing patients with information to manage expectations and improve the IVF experience.
Ivf and pgd 23 2-11
This document discusses invitro fertilization (IVF) and pre-implantation genetic diagnosis (PGD). PGD involves testing embryos for genetic diseases prior to implantation. It can reduce miscarriage rates and allow parents to select embryos without diseases. However, it also enables selection based on non-medical traits and discarding of embryos, raising ethical issues. Views on the morality of embryo research and genetic selection vary between utilitarian, rights-based ethics and different religious perspectives. International policies also differ in their regulation of PGD and genetic selection.
10815 2013 article_48
This document discusses the potential for using time-lapse embryo imaging to non-invasively determine embryonic aneuploidy (chromosomal abnormalities) through examination of embryo morphology and timing of developmental events. Recent studies have found that early cleavage timings observed through time-lapse imaging can provide insight into chromosomal status. However, the predictive ability is limited and embryo biopsy with preimplantation genetic screening remains the most reliable method to assess chromosomal complement. Continued research aiming to improve modeling may enhance the ability to detect aneuploidy without biopsy using morphokinetic data.
Recombinantvsurinarygonadotrophins2 140608112530-phpapp01
This document summarizes studies comparing recombinant human chorionic gonadotropin (rhCG) and recombinant luteinizing hormone (rLH) to urinary hCG (uhCG) for triggering ovulation. Seven randomized controlled trials were included in the analysis. The studies found no significant differences in ongoing pregnancy rates, clinical pregnancy rates, incidence of ovarian hyperstimulation syndrome, or miscarriage rates between rhCG and uhCG. rLH was found to have lower pregnancy rates and is no longer being developed for triggering ovulation. rhCG was found to have fewer local site reactions compared to uhCG but one open-label study found no differences. In conclusion, rhCG and uhCG have similar clinical outcomes for triggering ovulation, and
Window of endometrial receptivity1
This document discusses endometrial receptivity and the Endometrial Receptivity Array (ERA) test. The ERA test analyzes the endometrial transcriptome using microarrays to determine if a patient's window of receptivity is receptive or non-receptive. For patients found to have a non-receptive window, personalizing the timing of embryo transfer based on the ERA results can improve pregnancy rates compared to using a standard transfer schedule. The ERA test is currently being clinically validated in an international randomized controlled trial.
L3 key slides orvieto
This document discusses methods to identify patients who may benefit from LH supplementation before and during controlled ovarian stimulation (COS) for IVF. Before COS, patients such as those with hypogonadotropic hypogonadism, poor responders over 35 years old, or a high basal FSH/LH ratio may benefit. During COS with a GnRH agonist, patients with a "steady response" or LH levels over 1.99 on day 8 may benefit. During COS with a GnRH antagonist, patients with progesterone over 1-1.2 on the day of hCG administration may benefit from LH supplementation.
L17 munné
This document discusses various methods for preimplantation genetic diagnosis (PGD) using embryo biopsy and genetic analysis. It finds that a high percentage (over 50%) of morphologically normal embryos are chromosomally abnormal, and this percentage increases with maternal age. New methods like array comparative genomic hybridization (aCGH) allow analysis of all 24 chromosomes with a low error rate (<2%) and without need for parental samples. Clinical trials show improved pregnancy and implantation rates using aCGH with day 3 or day 5 embryo biopsy compared to no PGD. Blastocyst biopsy provides more DNA for analysis and may reduce mosaicism effects. Overall, the document evaluates different PGD methods and finds aCGH analysis after blast
The use of time lapse photography in an in vitro fertilization programme for ...
This study examined the timing of early cell divisions in human embryos using time-lapse imaging. It found that embryos producing high-quality blastocysts and resulting in pregnancies showed uniform timing of cleavage cycles and interphases. Specifically, the second interphase lasted 11±1 hours, the third interphase was 15±1 hours, and the fourth interphase was 23±1 hours. The corresponding cleavage cycles lasted 15±5 minutes, 40±10 minutes, and 55±15 minutes. In contrast, embryos with shortened or prolonged cell cycles showed poor implantation and development. The study also discovered trichotomic mitosis, where embryos cleaved into an abnormal number of cells, in 17% of cases. Only time-
Shapiro
This document summarizes research comparing outcomes of fresh embryo transfers versus frozen embryo transfers (FET). Key points include:
- FET outcomes were found to equal or exceed fresh outcomes, suggesting endometrial asynchrony with fresh cycles due to ovarian stimulation effects.
- Slower developing day 6 blastocysts showed lower implantation rates than day 5 blastocysts with fresh but not FET transfers, again indicating endometrial asynchrony issues with fresh cycles.
- Studies directly comparing matched fresh and FET cycles found significantly higher pregnancy and implantation rates with FET, demonstrating cryopreservation can overcome negative endometrial effects of ovarian stimulation.
Fresh or frozen embryos – which are better
This document summarizes research comparing outcomes of fresh embryo transfers versus frozen embryo transfers (FET). It finds that FET results in better pregnancy and implantation rates than fresh transfers, likely due to ovarian stimulation negatively impacting endometrial receptivity in fresh cycles. Specifically, FET cycles have higher success rates for slower developing embryos and embryos transferred in cycles with premature progesterone elevation. FET outcomes in young patients can rival fresh donor egg cycles. Randomized trials show significantly higher pregnancy rates with FET compared to fresh transfer in normal responders.
1 s2.0-s0929664613000958-main
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.
1 s2.0-s1472648313006354-main
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.
Fetal fraction nipt pnd
This document discusses the impact of fetal fraction, the percentage of cell-free DNA in maternal plasma that is of fetal origin, on the performance of next generation sequencing tests for detecting common fetal aneuploidies such as Down syndrome. It finds that test performance is better with higher fetal fractions. Specifically, the distribution of test results for Down syndrome pregnancies improves and separates more from normal pregnancies as fetal fraction increases. Additionally, false negative rates and rates of low fetal fractions are highest for women with high maternal weights. When a fetus has mosaicism for a trisomy, the degree of mosaicism affects the effective fetal fraction and thus impacts test performance.
Fetal quant cuhk bioinformatics
This document describes a new statistical method called FetalQuant that can deduce the fractional fetal DNA concentration directly from massively parallel sequencing (MPS) data of DNA in maternal plasma, without requiring prior genotype information. FetalQuant implements a binomial mixture model to estimate the fractional fetal DNA concentration by maximum likelihood using only the allelic count data from targeted MPS. This allows improved determination of the fetal DNA fraction without additional laboratory steps. The authors believe FetalQuant can help expand the applications of MPS-based non-invasive prenatal diagnosis.
Gb 2011-12-9-228
This document discusses how exome sequencing is revolutionizing the identification of genes that cause Mendelian diseases. It provides three main points:
1) Exome sequencing has identified over 30 new disease genes since 2009, improving clinical diagnosis, genotype-phenotype correlations, and understanding of rare genetic variation.
2) Our view of Mendelian diseases is changing as exome sequencing is less biased than previous methods and is identifying disease genes in cases where the genetic cause was unclear.
3) Exome sequencing is now the primary tool for studying Mendelian diseases as it can sequence hundreds of patient exomes per year more efficiently than whole genome sequencing.
Pone.0034901
1) Genome-wide gene expression analysis identified immune response and lymphangiogenesis pathways as implicated in the pathogenesis of fetal chylothorax (FC). Genes involved in immune response were universally up-regulated, while genes related to lymphangiogenesis were down-regulated in fetal pleural fluids of FC cases.
2) Expression of the ITGA9 gene, which is important for lymphangiogenesis, was concordant with trends in the lymphangiogenesis pathway. ITGA9 mutations have previously been associated with FC.
3) For one fetus (Ind) carrying an ITGA9 mutation, immune response pathways decreased after successful treatment of FC with OK-432 pleurodesis, while lymphangiogenesis pathways
Mat weight ga fetal frac nipt pnd
- The study analyzed 22,384 maternal plasma samples to determine the effects of gestational age and maternal weight on the percentage of fetal cell-free DNA (cfDNA) in maternal plasma.
- They found that the percentage of fetal cfDNA increases with gestational age, rising 0.1% per week between 10-21 weeks and 1% per week after 21 weeks. Fetal cfDNA percentage decreases with increasing maternal weight.
- Of samples that were redrawn due to initially low fetal cfDNA, 56% of second draws had over 4% fetal cfDNA, showing that fetal percentage often improves with redraws, especially at later gestational ages.
Snp nipt pnd
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.
Nihms379831 stephen quake
This document describes a new noninvasive method for sequencing the entire fetal genome using cell-free DNA found in a pregnant woman's blood. The method works by counting parental haplotypes - combinations of maternal and paternal chromosomes passed to the fetus. Since a small percentage of cell-free DNA comes from the fetus, haplotypes inherited by the fetus can be identified by which have a higher count. Researchers tested this method on two pregnancies and were able to determine the fetal genomes without any invasive procedures. This noninvasive prenatal testing could allow comprehensive screening for genetic diseases.
Twin zygosity nipt
This document describes a study that used massively parallel sequencing of cell-free DNA in maternal blood to assess zygosity and detect fetal aneuploidies in twin pregnancies. The study determined zygosity by analyzing apparent fractional fetal DNA concentrations across genomic regions. It then calculated individual fetal DNA concentrations for dizygotic twins to assess each fetus. The study detected trisomy 21 in one twin and trisomy 18 in the other twin of two pregnancies. It demonstrated that noninvasive prenatal testing for aneuploidies can be achieved for twin pregnancies using this method.
1 s2.0-s1472648313006366-main
The document compares euploidy rates between blastomere biopsies on day 3 embryos and trophectoderm biopsies on day 5-7 blastocysts. Of the 1603 embryos biopsied, 31% were euploid, 62% were aneuploid, and 7% were unanalyzable. A significantly higher proportion of embryos were euploid with trophectoderm biopsy on day 5-7 (42%) compared to blastomere biopsy on day 3 (24%). Combining blastocyst culture, trophectoderm biopsy, and aneuploidy screening using aCGH provides a more efficient means of achieving euploid pregnancies in IVF.
Art%3 a10.1007%2fs10815 014-0355-4
This document describes a case study of preimplantation genetic diagnosis (PGD) performed on a breast cancer patient carrying a novel genomic deletion in the BRCA2 gene. Researchers first used single sperm haplotyping on the patient's carrier brother to establish linkage to the mutation. They then used BLAST analysis to locate putative hairpin structures in the genome and PCR screening to identify a 2,596 bp deletion in BRCA2 involving exons 15-16. PGD was performed using both direct mutation detection and linkage analysis to avoid misdiagnosis from recombination. This identified unaffected embryos, one of which was transferred, resulting in a live birth.
Art%3 a10.1007%2fs10815 014-0355-4 (1)
This document describes a case study of preimplantation genetic diagnosis (PGD) performed on a breast cancer patient carrying a novel genomic deletion in the BRCA2 gene. Researchers first used single sperm haplotyping on the patient's carrier brother to establish linkage to the mutation. They then used BLAST analysis to locate putative hairpin structures in the genome and PCR screening to identify a 2,596 bp deletion in BRCA2 involving exons 15-16. PGD was performed using both direct mutation detection and linkage analysis to avoid misdiagnosis from recombination. This identified unaffected embryos, one of which was transferred, resulting in a live birth.
Ecas1 1410
- Dr. Chang informs 37-year-old patient Niki about declining fertility with age and recommends an AMH test to evaluate her ovarian reserve since Niki wants to have children.
- Niki's test results show very low AMH levels. Dr. Goldstein, who is covering for Dr. Chang, is upset that Dr. Chang informed Niki without considering her lack of a partner and career focus.
- The commentary argues that physicians have a responsibility to provide patients information relevant to their reproductive goals and futures to allow for informed decision making, even if the news is unexpected or unwelcome.
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10815 2013 article_48
This document discusses the potential for using time-lapse embryo imaging to non-invasively determine embryonic aneuploidy (chromosomal abnormalities) through examination of embryo morphology and timing of developmental events. Recent studies have found that early cleavage timings observed through time-lapse imaging can provide insight into chromosomal status. However, the predictive ability is limited and embryo biopsy with preimplantation genetic screening remains the most reliable method to assess chromosomal complement. Continued research aiming to improve modeling may enhance the ability to detect aneuploidy without biopsy using morphokinetic data.
Recombinantvsurinarygonadotrophins2 140608112530-phpapp01
This document summarizes studies comparing recombinant human chorionic gonadotropin (rhCG) and recombinant luteinizing hormone (rLH) to urinary hCG (uhCG) for triggering ovulation. Seven randomized controlled trials were included in the analysis. The studies found no significant differences in ongoing pregnancy rates, clinical pregnancy rates, incidence of ovarian hyperstimulation syndrome, or miscarriage rates between rhCG and uhCG. rLH was found to have lower pregnancy rates and is no longer being developed for triggering ovulation. rhCG was found to have fewer local site reactions compared to uhCG but one open-label study found no differences. In conclusion, rhCG and uhCG have similar clinical outcomes for triggering ovulation, and
Window of endometrial receptivity1
This document discusses endometrial receptivity and the Endometrial Receptivity Array (ERA) test. The ERA test analyzes the endometrial transcriptome using microarrays to determine if a patient's window of receptivity is receptive or non-receptive. For patients found to have a non-receptive window, personalizing the timing of embryo transfer based on the ERA results can improve pregnancy rates compared to using a standard transfer schedule. The ERA test is currently being clinically validated in an international randomized controlled trial.
L3 key slides orvieto
This document discusses methods to identify patients who may benefit from LH supplementation before and during controlled ovarian stimulation (COS) for IVF. Before COS, patients such as those with hypogonadotropic hypogonadism, poor responders over 35 years old, or a high basal FSH/LH ratio may benefit. During COS with a GnRH agonist, patients with a "steady response" or LH levels over 1.99 on day 8 may benefit. During COS with a GnRH antagonist, patients with progesterone over 1-1.2 on the day of hCG administration may benefit from LH supplementation.
L17 munné
This document discusses various methods for preimplantation genetic diagnosis (PGD) using embryo biopsy and genetic analysis. It finds that a high percentage (over 50%) of morphologically normal embryos are chromosomally abnormal, and this percentage increases with maternal age. New methods like array comparative genomic hybridization (aCGH) allow analysis of all 24 chromosomes with a low error rate (<2%) and without need for parental samples. Clinical trials show improved pregnancy and implantation rates using aCGH with day 3 or day 5 embryo biopsy compared to no PGD. Blastocyst biopsy provides more DNA for analysis and may reduce mosaicism effects. Overall, the document evaluates different PGD methods and finds aCGH analysis after blast
The use of time lapse photography in an in vitro fertilization programme for ...
This study examined the timing of early cell divisions in human embryos using time-lapse imaging. It found that embryos producing high-quality blastocysts and resulting in pregnancies showed uniform timing of cleavage cycles and interphases. Specifically, the second interphase lasted 11±1 hours, the third interphase was 15±1 hours, and the fourth interphase was 23±1 hours. The corresponding cleavage cycles lasted 15±5 minutes, 40±10 minutes, and 55±15 minutes. In contrast, embryos with shortened or prolonged cell cycles showed poor implantation and development. The study also discovered trichotomic mitosis, where embryos cleaved into an abnormal number of cells, in 17% of cases. Only time-
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Shapiro
This document summarizes research comparing outcomes of fresh embryo transfers versus frozen embryo transfers (FET). Key points include:
- FET outcomes were found to equal or exceed fresh outcomes, suggesting endometrial asynchrony with fresh cycles due to ovarian stimulation effects.
- Slower developing day 6 blastocysts showed lower implantation rates than day 5 blastocysts with fresh but not FET transfers, again indicating endometrial asynchrony issues with fresh cycles.
- Studies directly comparing matched fresh and FET cycles found significantly higher pregnancy and implantation rates with FET, demonstrating cryopreservation can overcome negative endometrial effects of ovarian stimulation.
Fresh or frozen embryos – which are better
This document summarizes research comparing outcomes of fresh embryo transfers versus frozen embryo transfers (FET). It finds that FET results in better pregnancy and implantation rates than fresh transfers, likely due to ovarian stimulation negatively impacting endometrial receptivity in fresh cycles. Specifically, FET cycles have higher success rates for slower developing embryos and embryos transferred in cycles with premature progesterone elevation. FET outcomes in young patients can rival fresh donor egg cycles. Randomized trials show significantly higher pregnancy rates with FET compared to fresh transfer in normal responders.
1 s2.0-s0929664613000958-main
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.
1 s2.0-s1472648313006354-main
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.
Fetal fraction nipt pnd
This document discusses the impact of fetal fraction, the percentage of cell-free DNA in maternal plasma that is of fetal origin, on the performance of next generation sequencing tests for detecting common fetal aneuploidies such as Down syndrome. It finds that test performance is better with higher fetal fractions. Specifically, the distribution of test results for Down syndrome pregnancies improves and separates more from normal pregnancies as fetal fraction increases. Additionally, false negative rates and rates of low fetal fractions are highest for women with high maternal weights. When a fetus has mosaicism for a trisomy, the degree of mosaicism affects the effective fetal fraction and thus impacts test performance.
Fetal quant cuhk bioinformatics
This document describes a new statistical method called FetalQuant that can deduce the fractional fetal DNA concentration directly from massively parallel sequencing (MPS) data of DNA in maternal plasma, without requiring prior genotype information. FetalQuant implements a binomial mixture model to estimate the fractional fetal DNA concentration by maximum likelihood using only the allelic count data from targeted MPS. This allows improved determination of the fetal DNA fraction without additional laboratory steps. The authors believe FetalQuant can help expand the applications of MPS-based non-invasive prenatal diagnosis.
Gb 2011-12-9-228
This document discusses how exome sequencing is revolutionizing the identification of genes that cause Mendelian diseases. It provides three main points:
1) Exome sequencing has identified over 30 new disease genes since 2009, improving clinical diagnosis, genotype-phenotype correlations, and understanding of rare genetic variation.
2) Our view of Mendelian diseases is changing as exome sequencing is less biased than previous methods and is identifying disease genes in cases where the genetic cause was unclear.
3) Exome sequencing is now the primary tool for studying Mendelian diseases as it can sequence hundreds of patient exomes per year more efficiently than whole genome sequencing.
Pone.0034901
1) Genome-wide gene expression analysis identified immune response and lymphangiogenesis pathways as implicated in the pathogenesis of fetal chylothorax (FC). Genes involved in immune response were universally up-regulated, while genes related to lymphangiogenesis were down-regulated in fetal pleural fluids of FC cases.
2) Expression of the ITGA9 gene, which is important for lymphangiogenesis, was concordant with trends in the lymphangiogenesis pathway. ITGA9 mutations have previously been associated with FC.
3) For one fetus (Ind) carrying an ITGA9 mutation, immune response pathways decreased after successful treatment of FC with OK-432 pleurodesis, while lymphangiogenesis pathways
Mat weight ga fetal frac nipt pnd
- The study analyzed 22,384 maternal plasma samples to determine the effects of gestational age and maternal weight on the percentage of fetal cell-free DNA (cfDNA) in maternal plasma.
- They found that the percentage of fetal cfDNA increases with gestational age, rising 0.1% per week between 10-21 weeks and 1% per week after 21 weeks. Fetal cfDNA percentage decreases with increasing maternal weight.
- Of samples that were redrawn due to initially low fetal cfDNA, 56% of second draws had over 4% fetal cfDNA, showing that fetal percentage often improves with redraws, especially at later gestational ages.
Snp nipt pnd
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.
Nihms379831 stephen quake
This document describes a new noninvasive method for sequencing the entire fetal genome using cell-free DNA found in a pregnant woman's blood. The method works by counting parental haplotypes - combinations of maternal and paternal chromosomes passed to the fetus. Since a small percentage of cell-free DNA comes from the fetus, haplotypes inherited by the fetus can be identified by which have a higher count. Researchers tested this method on two pregnancies and were able to determine the fetal genomes without any invasive procedures. This noninvasive prenatal testing could allow comprehensive screening for genetic diseases.
Twin zygosity nipt
This document describes a study that used massively parallel sequencing of cell-free DNA in maternal blood to assess zygosity and detect fetal aneuploidies in twin pregnancies. The study determined zygosity by analyzing apparent fractional fetal DNA concentrations across genomic regions. It then calculated individual fetal DNA concentrations for dizygotic twins to assess each fetus. The study detected trisomy 21 in one twin and trisomy 18 in the other twin of two pregnancies. It demonstrated that noninvasive prenatal testing for aneuploidies can be achieved for twin pregnancies using this method.
1 s2.0-s1472648313006366-main
The document compares euploidy rates between blastomere biopsies on day 3 embryos and trophectoderm biopsies on day 5-7 blastocysts. Of the 1603 embryos biopsied, 31% were euploid, 62% were aneuploid, and 7% were unanalyzable. A significantly higher proportion of embryos were euploid with trophectoderm biopsy on day 5-7 (42%) compared to blastomere biopsy on day 3 (24%). Combining blastocyst culture, trophectoderm biopsy, and aneuploidy screening using aCGH provides a more efficient means of achieving euploid pregnancies in IVF.
Art%3 a10.1007%2fs10815 014-0355-4
This document describes a case study of preimplantation genetic diagnosis (PGD) performed on a breast cancer patient carrying a novel genomic deletion in the BRCA2 gene. Researchers first used single sperm haplotyping on the patient's carrier brother to establish linkage to the mutation. They then used BLAST analysis to locate putative hairpin structures in the genome and PCR screening to identify a 2,596 bp deletion in BRCA2 involving exons 15-16. PGD was performed using both direct mutation detection and linkage analysis to avoid misdiagnosis from recombination. This identified unaffected embryos, one of which was transferred, resulting in a live birth.
Art%3 a10.1007%2fs10815 014-0355-4 (1)
This document describes a case study of preimplantation genetic diagnosis (PGD) performed on a breast cancer patient carrying a novel genomic deletion in the BRCA2 gene. Researchers first used single sperm haplotyping on the patient's carrier brother to establish linkage to the mutation. They then used BLAST analysis to locate putative hairpin structures in the genome and PCR screening to identify a 2,596 bp deletion in BRCA2 involving exons 15-16. PGD was performed using both direct mutation detection and linkage analysis to avoid misdiagnosis from recombination. This identified unaffected embryos, one of which was transferred, resulting in a live birth.
Ecas1 1410
- Dr. Chang informs 37-year-old patient Niki about declining fertility with age and recommends an AMH test to evaluate her ovarian reserve since Niki wants to have children.
- Niki's test results show very low AMH levels. Dr. Goldstein, who is covering for Dr. Chang, is upset that Dr. Chang informed Niki without considering her lack of a partner and career focus.
- The commentary argues that physicians have a responsibility to provide patients information relevant to their reproductive goals and futures to allow for informed decision making, even if the news is unexpected or unwelcome.
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The document describes a pilot study that investigated the presence of DNA in blastocyst fluids (BFs) and whether the chromosomal status predicted by analyzing this DNA corresponds to the status in trophectoderm (TE) cells and the whole embryo. The study found that:
1) DNA was detected in the BFs of 76.5% of blastocysts tested, allowing chromosomal analysis of these samples.
2) In 97.4% of cases, the ploidy condition (euploid vs. aneuploid) predicted by BF analysis matched the condition in TE cells.
3) BF analysis predicted the ploidy condition of the whole embryo with 100% accuracy
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This study compared two microarray technologies, single nucleotide polymorphism (SNP) and comparative genomic hybridization (aCGH), for preimplantation genetic diagnosis and screening (PGD/PGS) of embryos from couples where one parent has a balanced reciprocal translocation. The study found:
1) There was no significant difference in the rates of euploid embryos without translocation imbalances, euploid embryos with imbalances, or aneuploid embryos between the SNP and aCGH technologies.
2) Clinical pregnancy rates were also equivalent for SNP (60%) and aCGH (65%) microarrays.
3) Both SNP and aCGH microarrays effectively identified unbalanced translocations
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This document summarizes a study that developed a new microarray platform capable of simultaneously assessing aneuploidy, mitochondrial DNA content, and single-nucleotide polymorphisms in human polar bodies and embryos. The microarray was optimized and validated using cell lines and clinical samples. Results found the microarray detected aneuploidies with 97% accuracy and could accurately determine relative mitochondrial DNA quantities and genotypes, allowing confirmation of parental origin. The microarray provides information beyond chromosomal analysis alone that could improve embryo assessment and selection.
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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.