In the future , IVF will not only be for infertile women but will be directed to help fertile couples getting health babies!! How !! this talk will help to illustrate that
investigation of infertility with focus on genetic basis of infertilityPathKind Labs
Infertility if quite common. Understanding genetic basis of infertility can help in making the right decision on what diseases can be transmitted to the offspring and which IVF technique would be most helpful in overcoming infertility.
IVF will remain the solution for infertile couples. But its future will dramatically be directed to fertile couples !!!! This talk will discuss these issues
Human reproduction is remarkably inefficient; Only 420 are born alive out of 1000 fertilizations, nearly 70% of human conceptions do not survive to live birth. The stillbirth in india is highest in the world 7% to 14% in different states Odisha 8% Karnataka 14% (of course reported only) Recurrent pregnancy loss is a psychologically stressful diagnosis for couples, in approximately 50% of cases, no cause will be found. The number of evidence-based practices available for guidance is limited. This confluence of factors presents a challenge for clinicians. However, in studies of interventions aimed at reducing rates of miscarriage in women with otherwise unexplained RPL, control groups experience a live birth rate of up to 87% with no intervention. Thus, one of the most significant things we can do when caring for these complex patients is to offer them emotional support and accurate information. As more work is done in this emerging area of reproductive science, we will be able to shed more light on this complex problem.
Dr. Vandana Bansal discusses third party reproduction and current concepts in art. She defines third party reproduction as using gametes, embryos, or a uterus from a donor to enable an infertile couple to have children. Some common forms of third party reproduction include egg donation, sperm donation, embryo donation, and surrogacy. Dr. Bansal outlines the screening and matching process used to select egg donors and discusses the indications and process for egg donation. She emphasizes the importance of counseling, medical evaluation, and proper monitoring of both recipients and donors to have a successful outcome with third party reproduction.
Genetic screening involves testing samples of blood, tissue or fluid to check for genetic conditions or risks of transmitting genetic disorders. It can confirm suspected genetic disorders, help determine risk of developing or passing on disorders, and guide healthcare decisions. Common screening tests examine chromosomes from amniotic fluid or placental tissue, measure markers in maternal serum, or check for physical abnormalities via ultrasound. Screening helps manage pregnancies and plan for newborn health issues.
Reproductive Genetics: Introduction to Genetic Testing Optionskanew396
GenomeSmart can help you navigate the different reproductive genetic testing options to allow you to make informed decisions for the health of yourself and your family.
Recurrent miscarriage syndrome, also known as recurrent pregnancy loss, is defined as three or more consecutive losses of clinically recognized pregnancies under 20 weeks gestation. Only about 50% of causes can be determined, which may include uterine, immunologic, endocrine, genetic, thrombophilic, or environmental factors. Evaluation involves a medical and family history, physical exam, laboratory tests, and imaging of the uterus to diagnose potential causes like uterine anomalies, immunologic issues like antiphospholipid syndrome, endocrine disorders, genetic abnormalities, or thrombophilia. Management depends on the underlying cause, with treating identified issues like uterine abnormalities, controlled diabetes or thyroid conditions, anticoagulation for antiphospholipid syndrome,
American Urological Association (AUA) Lecture given at the American Society of Andrology (ASA) 40th annual conference, April 18 – 21, 2015 in Salt Lake City, Utah.
investigation of infertility with focus on genetic basis of infertilityPathKind Labs
Infertility if quite common. Understanding genetic basis of infertility can help in making the right decision on what diseases can be transmitted to the offspring and which IVF technique would be most helpful in overcoming infertility.
IVF will remain the solution for infertile couples. But its future will dramatically be directed to fertile couples !!!! This talk will discuss these issues
Human reproduction is remarkably inefficient; Only 420 are born alive out of 1000 fertilizations, nearly 70% of human conceptions do not survive to live birth. The stillbirth in india is highest in the world 7% to 14% in different states Odisha 8% Karnataka 14% (of course reported only) Recurrent pregnancy loss is a psychologically stressful diagnosis for couples, in approximately 50% of cases, no cause will be found. The number of evidence-based practices available for guidance is limited. This confluence of factors presents a challenge for clinicians. However, in studies of interventions aimed at reducing rates of miscarriage in women with otherwise unexplained RPL, control groups experience a live birth rate of up to 87% with no intervention. Thus, one of the most significant things we can do when caring for these complex patients is to offer them emotional support and accurate information. As more work is done in this emerging area of reproductive science, we will be able to shed more light on this complex problem.
Dr. Vandana Bansal discusses third party reproduction and current concepts in art. She defines third party reproduction as using gametes, embryos, or a uterus from a donor to enable an infertile couple to have children. Some common forms of third party reproduction include egg donation, sperm donation, embryo donation, and surrogacy. Dr. Bansal outlines the screening and matching process used to select egg donors and discusses the indications and process for egg donation. She emphasizes the importance of counseling, medical evaluation, and proper monitoring of both recipients and donors to have a successful outcome with third party reproduction.
Genetic screening involves testing samples of blood, tissue or fluid to check for genetic conditions or risks of transmitting genetic disorders. It can confirm suspected genetic disorders, help determine risk of developing or passing on disorders, and guide healthcare decisions. Common screening tests examine chromosomes from amniotic fluid or placental tissue, measure markers in maternal serum, or check for physical abnormalities via ultrasound. Screening helps manage pregnancies and plan for newborn health issues.
Reproductive Genetics: Introduction to Genetic Testing Optionskanew396
GenomeSmart can help you navigate the different reproductive genetic testing options to allow you to make informed decisions for the health of yourself and your family.
Recurrent miscarriage syndrome, also known as recurrent pregnancy loss, is defined as three or more consecutive losses of clinically recognized pregnancies under 20 weeks gestation. Only about 50% of causes can be determined, which may include uterine, immunologic, endocrine, genetic, thrombophilic, or environmental factors. Evaluation involves a medical and family history, physical exam, laboratory tests, and imaging of the uterus to diagnose potential causes like uterine anomalies, immunologic issues like antiphospholipid syndrome, endocrine disorders, genetic abnormalities, or thrombophilia. Management depends on the underlying cause, with treating identified issues like uterine abnormalities, controlled diabetes or thyroid conditions, anticoagulation for antiphospholipid syndrome,
American Urological Association (AUA) Lecture given at the American Society of Andrology (ASA) 40th annual conference, April 18 – 21, 2015 in Salt Lake City, Utah.
In utero testing of foetus for genetic defectsPiyushPal24
A presentation on the various genetic disorders, their diagnosis and possible cure in the future along with an account on genetic counselling. This presentation is more of a review on the topic.
Genetic factors play an important role in recurrent pregnancy loss (RPL). Cytogenetic analysis through karyotyping and fluorescence in situ hybridization (FISH) of fetal tissue from miscarriages can identify chromosomal abnormalities as a cause of loss in many cases. Establishing an etiology through genetic testing is essential for accurately counseling patients on recurrence risks and reproductive options.
This document summarizes preimplantation genetic diagnosis (PGD), which screens embryos for genetic disorders prior to embryo transfer during in vitro fertilization (IVF). PGD can detect single-gene disorders, chromosomal abnormalities, and HLA types. It allows transferring only unaffected embryos, avoiding termination of affected pregnancies. PGD is requested for couples at high risk of passing genetic disorders to offspring or to select euploid embryos to improve IVF success rates. The document outlines the PGD process and discusses its use for various genetic conditions like recessive, dominant, sex-linked, and chromosomal disorders. While PGD aims to prevent disease transmission, some argue its use for selecting traits could enable eugenics.
Genetic screening counseling Prenatal Testing M Phil 17 2-15Yahya Noori, Ph.D
This document provides an overview of genetic counseling, screening, and prenatal testing. It discusses:
- The purpose of genetic screening to identify individuals at risk for genetic disorders and provide reproductive options.
- Methods of genetic counseling including gathering a family history, physical exam, and laboratory testing to establish diagnoses.
- Prenatal testing options like nuchal translucency measurement and amniocentesis to detect chromosomal abnormalities.
- Principles of genetic screening tests and the importance of follow-up diagnostic testing for positive results.
- Factors that influence genetic risk like penetrance and expressivity of traits.
- Examples of career screening programs and challenges in genetic counseling like consanguinity.
Genetic screening uses techniques like karyotyping, amniocentesis, and preimplantation genetic diagnosis to detect abnormalities or predict diseases. Karyotyping examines chromosomes for changes in number or structure. Amniocentesis analyzes amniotic fluid samples for fetal DNA, while chorionic villus sampling tests placental tissue. Preimplantation genetic diagnosis screens embryos before implantation. Genetic screening can prevent birth defects but also raises issues regarding which conditions to test for and the social impact of results.
PRESENTED AT MASTER CLASS MUMBAI...........THNX TO MANY WHO HAVE CONTRIBUTED TO THIS PRESENTATION.....FEEL FREE TO USE THIS , BUT PLEASE ACKNOWLEDGE THE EFFORTS OF ALL ...........jaideep-narendra
THIS PRESENATATION IS FOR THE MEDICAL STUDENTS WHO ALSO HAVE GENETICS AND IF THEY NEED TO GIVE A SEMINAR BASED ON THIS TOPIC THIS PRESENATATION SHALL PROVE USEFUL
This document summarizes male fertility and factors that impact sperm production and delivery. It discusses the roles of the hypothalamus, pituitary gland, testes and accessory sex organs in spermatogenesis and fertilization. It also outlines factors that can negatively influence sperm quality or quantity, such as varicoceles, infections, lifestyle, and occupational or environmental exposures. Evaluation of male fertility includes medical history, physical exam, semen analysis and additional tests as needed.
This document discusses prenatal diagnosis, which involves procedures to diagnose genetic abnormalities or structural issues in an embryo or fetus. Prenatal diagnosis allows for timely medical care or decisions about continuing the pregnancy. It can be done through invasive methods like amniocentesis that have a small risk of miscarriage, or non-invasive ultrasound or blood tests. The most common reasons for prenatal diagnosis are advanced maternal age, family histories of genetic conditions, or high-risk pregnancies. It is used to screen for issues like Down syndrome, neural tube defects, and identify structural abnormalities.
This document discusses genetic testing, including definitions, purposes, types, and techniques. It covers several types of genetic testing such as carrier screening, preimplantation diagnosis, prenatal testing, newborn screening, and predictive adult testing. Techniques discussed include amniocentesis, chorionic villus sampling, fetal cell analysis from maternal blood, analysis of maternal serum markers, ultrasound, autopsy, and culture/microscopy. Ethical considerations around informed consent are also mentioned.
OVARIAN RESERVE DIAGNOSIS & MANAGEMENT DR Sharda Jain Lifecare Centre
Diminished ovarian reserve is the loss of normal reproductive potential in the ovaries due to a lower count or quality of remaining eggs. It can be caused by factors like advanced age, chemotherapy, genetics, and lifestyle. Ovarian reserve tests assess markers like antral follicle count, anti-Mullerian hormone, and follicle-stimulating hormone to predict ovarian response. A combination of biochemical tests is effective for predicting diminished ovarian reserve. When test results indicate poor ovarian reserve, treatment options include protocols using gonadotropins, letrozole, or dehydroepiandrosterone to potentially increase live birth rates from in vitro fertilization.
Role of ovum donation, surrogacy & Adoption in Fertility treatment- Dr. Kaber...Kaberi Banerjee
This slide describes the various factors involved in egg donation and surrogacy program in India along with its success rates. It also explains the adoption process in India.
Prenatal Testing, deteksi kelainan bawaan sejak dalam kandunganHendrik Sutopo
Pengenalan mengenai prenatal diagnosis.
Memberikan gambaran sekilas mengenai cara-cara untuk mengetahui kelainan bawaan sejak janin dalam kandungan.
lebih ditujukan untuk kalangan medis.
Non Invasive Prenatal Testing (NIPT)
How to deal with covid cases who want to get pregnant and those who already are pregnant : A dllema
Vaccine or No vaccine : we will answer this in this talk
Ethical issues associated with fertility treatmentChris Willmott
Dr. Chris Willmott gave a presentation on the ethical issues associated with fertility treatment. He discussed various fertility procedures like IVF, egg/embryo donation, and surrogacy. He also outlined some of the debates around who should have access to treatment, how many embryos should be transferred, the fate of leftover embryos, genetic screening of embryos, and resource allocation issues. The talk examined arguments both for and against different procedures from various ethical perspectives.
Genetic counseling involves evaluating a family's medical history and genetic test results to help them understand inherited disorders and make decisions. Genetic tests analyze blood or tissue samples to identify genes for disorders. Those who may benefit from genetic counseling have a family history of genetic disorders, birth defects, inherited cancers, intellectual disabilities, or recurrent miscarriages. Genetic counseling provides advice on the risks of inherited conditions being passed down and helps with decisions around prenatal testing, treatment, and family planning.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...鋒博 蔡
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It covers:
1) PGD was introduced in 1990 to test embryos for genetic diseases before implantation to avoid terminating affected pregnancies. It helps couples at high risk of passing on diseases.
2) Studies show PGD is safe when performed by experienced labs, with similar outcomes to IVF. The optimal procedure is biopsy of one cell from day 3 embryos.
3) Maximizing IVF success with PGD requires an individualized approach considering factors like age, diagnosis, and number of embryos available for transfer.
In utero testing of foetus for genetic defectsPiyushPal24
A presentation on the various genetic disorders, their diagnosis and possible cure in the future along with an account on genetic counselling. This presentation is more of a review on the topic.
Genetic factors play an important role in recurrent pregnancy loss (RPL). Cytogenetic analysis through karyotyping and fluorescence in situ hybridization (FISH) of fetal tissue from miscarriages can identify chromosomal abnormalities as a cause of loss in many cases. Establishing an etiology through genetic testing is essential for accurately counseling patients on recurrence risks and reproductive options.
This document summarizes preimplantation genetic diagnosis (PGD), which screens embryos for genetic disorders prior to embryo transfer during in vitro fertilization (IVF). PGD can detect single-gene disorders, chromosomal abnormalities, and HLA types. It allows transferring only unaffected embryos, avoiding termination of affected pregnancies. PGD is requested for couples at high risk of passing genetic disorders to offspring or to select euploid embryos to improve IVF success rates. The document outlines the PGD process and discusses its use for various genetic conditions like recessive, dominant, sex-linked, and chromosomal disorders. While PGD aims to prevent disease transmission, some argue its use for selecting traits could enable eugenics.
Genetic screening counseling Prenatal Testing M Phil 17 2-15Yahya Noori, Ph.D
This document provides an overview of genetic counseling, screening, and prenatal testing. It discusses:
- The purpose of genetic screening to identify individuals at risk for genetic disorders and provide reproductive options.
- Methods of genetic counseling including gathering a family history, physical exam, and laboratory testing to establish diagnoses.
- Prenatal testing options like nuchal translucency measurement and amniocentesis to detect chromosomal abnormalities.
- Principles of genetic screening tests and the importance of follow-up diagnostic testing for positive results.
- Factors that influence genetic risk like penetrance and expressivity of traits.
- Examples of career screening programs and challenges in genetic counseling like consanguinity.
Genetic screening uses techniques like karyotyping, amniocentesis, and preimplantation genetic diagnosis to detect abnormalities or predict diseases. Karyotyping examines chromosomes for changes in number or structure. Amniocentesis analyzes amniotic fluid samples for fetal DNA, while chorionic villus sampling tests placental tissue. Preimplantation genetic diagnosis screens embryos before implantation. Genetic screening can prevent birth defects but also raises issues regarding which conditions to test for and the social impact of results.
PRESENTED AT MASTER CLASS MUMBAI...........THNX TO MANY WHO HAVE CONTRIBUTED TO THIS PRESENTATION.....FEEL FREE TO USE THIS , BUT PLEASE ACKNOWLEDGE THE EFFORTS OF ALL ...........jaideep-narendra
THIS PRESENATATION IS FOR THE MEDICAL STUDENTS WHO ALSO HAVE GENETICS AND IF THEY NEED TO GIVE A SEMINAR BASED ON THIS TOPIC THIS PRESENATATION SHALL PROVE USEFUL
This document summarizes male fertility and factors that impact sperm production and delivery. It discusses the roles of the hypothalamus, pituitary gland, testes and accessory sex organs in spermatogenesis and fertilization. It also outlines factors that can negatively influence sperm quality or quantity, such as varicoceles, infections, lifestyle, and occupational or environmental exposures. Evaluation of male fertility includes medical history, physical exam, semen analysis and additional tests as needed.
This document discusses prenatal diagnosis, which involves procedures to diagnose genetic abnormalities or structural issues in an embryo or fetus. Prenatal diagnosis allows for timely medical care or decisions about continuing the pregnancy. It can be done through invasive methods like amniocentesis that have a small risk of miscarriage, or non-invasive ultrasound or blood tests. The most common reasons for prenatal diagnosis are advanced maternal age, family histories of genetic conditions, or high-risk pregnancies. It is used to screen for issues like Down syndrome, neural tube defects, and identify structural abnormalities.
This document discusses genetic testing, including definitions, purposes, types, and techniques. It covers several types of genetic testing such as carrier screening, preimplantation diagnosis, prenatal testing, newborn screening, and predictive adult testing. Techniques discussed include amniocentesis, chorionic villus sampling, fetal cell analysis from maternal blood, analysis of maternal serum markers, ultrasound, autopsy, and culture/microscopy. Ethical considerations around informed consent are also mentioned.
OVARIAN RESERVE DIAGNOSIS & MANAGEMENT DR Sharda Jain Lifecare Centre
Diminished ovarian reserve is the loss of normal reproductive potential in the ovaries due to a lower count or quality of remaining eggs. It can be caused by factors like advanced age, chemotherapy, genetics, and lifestyle. Ovarian reserve tests assess markers like antral follicle count, anti-Mullerian hormone, and follicle-stimulating hormone to predict ovarian response. A combination of biochemical tests is effective for predicting diminished ovarian reserve. When test results indicate poor ovarian reserve, treatment options include protocols using gonadotropins, letrozole, or dehydroepiandrosterone to potentially increase live birth rates from in vitro fertilization.
Role of ovum donation, surrogacy & Adoption in Fertility treatment- Dr. Kaber...Kaberi Banerjee
This slide describes the various factors involved in egg donation and surrogacy program in India along with its success rates. It also explains the adoption process in India.
Prenatal Testing, deteksi kelainan bawaan sejak dalam kandunganHendrik Sutopo
Pengenalan mengenai prenatal diagnosis.
Memberikan gambaran sekilas mengenai cara-cara untuk mengetahui kelainan bawaan sejak janin dalam kandungan.
lebih ditujukan untuk kalangan medis.
Non Invasive Prenatal Testing (NIPT)
How to deal with covid cases who want to get pregnant and those who already are pregnant : A dllema
Vaccine or No vaccine : we will answer this in this talk
Ethical issues associated with fertility treatmentChris Willmott
Dr. Chris Willmott gave a presentation on the ethical issues associated with fertility treatment. He discussed various fertility procedures like IVF, egg/embryo donation, and surrogacy. He also outlined some of the debates around who should have access to treatment, how many embryos should be transferred, the fate of leftover embryos, genetic screening of embryos, and resource allocation issues. The talk examined arguments both for and against different procedures from various ethical perspectives.
Genetic counseling involves evaluating a family's medical history and genetic test results to help them understand inherited disorders and make decisions. Genetic tests analyze blood or tissue samples to identify genes for disorders. Those who may benefit from genetic counseling have a family history of genetic disorders, birth defects, inherited cancers, intellectual disabilities, or recurrent miscarriages. Genetic counseling provides advice on the risks of inherited conditions being passed down and helps with decisions around prenatal testing, treatment, and family planning.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...鋒博 蔡
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It covers:
1) PGD was introduced in 1990 to test embryos for genetic diseases before implantation to avoid terminating affected pregnancies. It helps couples at high risk of passing on diseases.
2) Studies show PGD is safe when performed by experienced labs, with similar outcomes to IVF. The optimal procedure is biopsy of one cell from day 3 embryos.
3) Maximizing IVF success with PGD requires an individualized approach considering factors like age, diagnosis, and number of embryos available for transfer.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...t7260678
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It covers:
1. PGD was introduced in 1990 to test embryos for genetic diseases before implantation, reducing risks of terminating or delivering sick children. It has helped couples at high risk of passing on genetic diseases.
2. Studies show PGD is safe when performed by experienced labs, with similar outcomes to regular IVF. The biopsy should remove one cell from day 3 embryos.
3. Optimizing PGD success requires an experienced clinic, skilled embryologists, removing one cell, and transferring high-quality embryos one at a time to avoid multiples. Number of eggs retrieved is a key factor.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...t7260678
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It covers:
1. PGD was introduced in 1990 to test embryos for genetic diseases before implantation, reducing risks of terminating or delivering sick children. It has helped couples at high risk of passing on genetic diseases.
2. Studies show PGD is safe when performed by experienced labs, with similar outcomes to regular IVF. The biopsy should remove one cell from day 3 embryos.
3. Optimizing PGD success requires an experienced clinic, skilled embryologists, removing one cell, and transferring high-quality embryos one at a time. Number and quality of embryos impact outcomes.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosis鋒博 蔡
1) Preimplantation genetic diagnosis (PGD) allows couples to conceive healthy embryos tested in vitro to avoid terminating affected pregnancies or delivering sick children. PGD is used for couples at risk of genetic diseases and translocations.
2) Studies show PGD is safe when performed by experienced labs, with similar outcomes to regular IVF. The optimal procedure is biopsy of one cell from day 3 embryos.
3) Maximizing IVF-PGD success requires an experienced lab, optimal ovarian stimulation to retrieve 10-15 eggs, and elective single embryo transfer to avoid multiples.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...t7260678
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It provides an overview of PGD and its indications. Key points discussed include that PGD seems generally safe when performed by experienced labs, children born from PGD have similar outcomes as regular IVF/ICSI children, and optimization of ovarian stimulation and embryo biopsy techniques can help maximize IVF-PGD success rates. Special challenges like nondisclosure PGD and PGD for HLA typing are also reviewed.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosis鋒博 蔡
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It covers:
1. PGD was introduced in 1990 to test embryos for genetic diseases before implantation, reducing risks of terminating or delivering sick children. It has helped couples at high risk of passing on genetic diseases.
2. Studies show PGD is safe when performed by experienced labs, with similar outcomes to regular IVF. The biopsy should remove one cell from day 3 embryos.
3. Optimizing PGD success requires an experienced clinic, skilled embryologists, removing one cell, and transferring high-quality embryos one at a time to avoid multiples. Number of eggs retrieved is a key factor.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosis鋒博 蔡
1) Preimplantation genetic diagnosis (PGD) allows couples to conceive healthy embryos tested in vitro to avoid terminating affected pregnancies or delivering sick children. PGD is used for couples at risk of genetic diseases and translocations.
2) Studies show PGD is safe when performed by experienced labs, with similar outcomes to regular IVF. The optimal procedure is biopsy of one cell from day 3 embryos.
3) Maximizing IVF-PGD success requires an experienced lab, optimal stimulation yielding 10-15 oocytes, and elective single embryo transfer to avoid multiples. Special challenges include nondisclosure PGD and PGD for HLA typing to save a sick sibling.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...t7260678
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It summarizes that PGD was introduced in 1990 and is used to test embryos for genetic diseases before implantation. The document outlines factors that influence PGD success rates, such as ovarian stimulation protocols, genetic status, and the expertise of the fertility clinic. It also discusses challenges like nondisclosure PGD and using PGD for HLA typing to help a sick sibling. The future of PGD may include using it for additional genetic conditions and developing large-scale national PGD programs.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...t7260678
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It summarizes that PGD was introduced in 1990 and is used to conceive healthy embryos tested in vitro to avoid genetic diseases. The document outlines factors that influence PGD success rates, including patient characteristics, genetic status, and ovarian stimulation protocols. It also discusses optimizing outcomes through embryo biopsy techniques, elective single embryo transfer, and collaborating with experienced centers. The future of PGD may include using it for additional genetic conditions and developing large-scale national PGD programs.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...鋒博 蔡
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It provides an overview of PGD and its indications. Key points discussed include that PGD seems generally safe when performed by experienced labs, children born from PGD have similar outcomes as regular IVF/ICSI children, and optimization of ovarian stimulation and embryo biopsy techniques can help maximize IVF-PGD success rates. Special challenges like nondisclosure PGD and PGD for HLA typing are also reviewed.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...鋒博 蔡
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It covers:
1) PGD was introduced in 1990 to test embryos for genetic diseases before implantation to avoid terminating affected pregnancies. It helps couples at high risk of passing on diseases.
2) Studies show PGD is safe when performed by experienced labs, with similar outcomes to IVF. The optimal procedure is biopsy of one cell from day 3 embryos.
3) Maximizing IVF success with PGD requires an individualized approach considering factors like age, diagnosis, and number of embryos available for transfer.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...t7260678
1) Preimplantation genetic diagnosis (PGD) allows couples to conceive healthy embryos tested in vitro to avoid terminating affected pregnancies or delivering sick children. PGD is used for couples at risk of genetic diseases and translocations.
2) Studies show PGD is safe when performed by experienced labs, with similar outcomes to regular IVF. The optimal procedure is biopsy of one cell from day 3 embryos.
3) Maximizing IVF-PGD success requires an experienced lab, optimal ovarian stimulation to retrieve 10-15 eggs, and elective single embryo transfer to avoid multiples.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...t7260678
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It summarizes that PGD was introduced in 1990 to conceive healthy embryos tested in vitro before implantation. The document outlines factors that influence PGD success rates, such as patient age and genetics, embryo quality, and ovarian stimulation protocols. It also discusses optimizing outcomes through techniques like elective single embryo transfer and collaborating with experienced PGD centers. The future of PGD may include screening for additional genetic disorders and conditions.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...鋒博 蔡
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It summarizes that PGD was introduced in 1990 to test embryos for genetic diseases before implantation. While embryo biopsy for PGD appears safe when only one cell is removed on day 3, children born from PGD have similar health outcomes as IVF/ICSI children. Optimizing ovarian stimulation and collaborating with experienced centers can help maximize success rates for IVF-PGD. Guidelines are suggested for offering PGD to create HLA-matched siblings to help sick family members.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...鋒博 蔡
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It provides an overview of PGD and its indications. Key points discussed include that PGD seems generally safe when performed by experienced labs, children born from PGD have similar outcomes as regular IVF/ICSI children, and optimization of ovarian stimulation and collaboration with experienced centers can help maximize IVF-PGD outcomes. Special challenges like nondisclosure PGD and PGD for HLA typing are also reviewed.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...鋒博 蔡
1) Preimplantation genetic diagnosis (PGD) allows couples to conceive healthy embryos tested in vitro to avoid terminating affected pregnancies or delivering sick children. PGD is used for couples at risk of genetic diseases and translocations.
2) Studies show PGD is safe when performed by experienced labs, with similar outcomes to regular IVF. The optimal procedure is biopsy of one cell from day 3 embryos.
3) Maximizing IVF-PGD success requires an experienced lab, optimal ovarian stimulation to retrieve 10-15 eggs, and elective single embryo transfer to avoid multiples.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...鋒博 蔡
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It provides an overview of PGD and its indications. Key points discussed include that PGD seems generally safe when performed by experienced labs, children born from PGD have similar outcomes as regular IVF/ICSI children, and optimization of ovarian stimulation and embryo biopsy techniques can help maximize IVF-PGD success rates. Special challenges like nondisclosure PGD and PGD for HLA typing are also reviewed.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosi...鋒博 蔡
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It provides an overview of PGD and its indications. Key points discussed include that PGD seems generally safe when performed by experienced labs, children born from PGD have similar outcomes as regular IVF/ICSI children, and optimization of ovarian stimulation and embryo biopsy techniques can help maximize IVF-PGD success rates. Special challenges like nondisclosure PGD and PGD for HLA typing are also reviewed.
Clinical manaement of in vitrofertilizatonwithpreimplantation geneticdiagnosist7260678
This document discusses clinical management of in vitro fertilization with preimplantation genetic diagnosis (PGD). It covers:
1. PGD was introduced in 1990 to test embryos for genetic diseases before implantation, reducing risks of terminating or delivering sick children. It has helped couples at high risk of passing on genetic diseases.
2. Studies show PGD is safe when performed by experienced labs, with similar outcomes to regular IVF. The biopsy should remove one cell from day 3 embryos.
3. Optimizing PGD success requires an experienced clinic, skilled embryologists, removing one cell, and transferring high-quality embryos one at a time to avoid multiples. Number and quality of embryos impact outcomes.
we need to update our knowledge regarding management of endometriosis.
Which is better: medications or surgery? let's see what can this talk tell us about
what is the efficacy of Dienogest for management of endometriosis? let's see what research can tell us
Is it better that other modalities of management?
This document outlines a 4G ovarian stimulation protocol. It discusses mono follicular versus multifollicular development in ovarian stimulation for IUI and IVF/ICSI. It also discusses luteal phase support strategies, including route of progesterone administration. Recombinant FSH, HMG, and gonadotropin dose are discussed. The document concludes by discussing a business model for an IVF center located within a hospital.
This document discusses ways to reduce miscarriage rates. It begins by outlining the agenda and introducing progesterone and NIPGT (non-invasive preimplantation genetic testing) as potential approaches. It then discusses how progesterone has immunomodulatory properties and supports the luteal phase in ART cycles. Several studies are summarized that show progesterone supplementation can reduce miscarriage rates. NIPGT is introduced as a less invasive way to assess chromosomal defects in embryos compared to traditional PGT. The document concludes that while progesterone is effective for reducing miscarriage, more evidence is still needed to determine if NIPGT could help in cases of recurrent miscarriage, especially in older patients.
This document discusses the pros and cons of transferring embryos on day 5 (blastocyst stage) versus day 3. It raises questions about whether day 5 transfer should be routine practice and whether there are any adverse effects. Specifically, it notes that day 5 transfer is not suitable for all women, especially those with a limited number of embryos, and that an increased incidence of autism has been reported. It also discusses whether day 5 transfer is practical given the infrastructure needed, and whether it is really of any value if more than one embryo is being transferred. The conclusion is that day 5 transfer should only be offered for highly selected cases.
- There is consensus that submucosal fibroids interfere with fertility and should be removed in infertile patients, regardless of size or symptoms. Subserosal fibroids do not impact fertility.
- The impact of intramural fibroids on fertility is still uncertain. Some studies show they may reduce clinical pregnancy and increase miscarriage rates, while other studies show no effect.
- The benefits of myomectomy for interstitial or intramural fibroids are unclear, as evidence is limited and conflicting. Myomectomy may be considered for failed IVF cycles or large fibroids distorting the cavity.
- There are ongoing controversies around the impact of fibroid number, location and size,
Adenomyosis is a difficult disease to diagnose due to overlapping symptoms with other conditions like fibroids. While historically considered a disease of parous women, it is increasingly being identified in nulliparous women as well. MRI is the gold standard for diagnosis but ultrasound, especially 3D ultrasound of the junctional zone, can also provide clues. Treatment depends on patient goals and includes long acting progestins, long protocol IVF to suppress symptoms during fertility treatment, and in some cases focused ultrasound or uterine sparing surgery. More research is still needed on newer minimally invasive treatments.
How to prevent occurrence of severe ovarian hyperstimulation in IVF. Is there a way ? this talk will present a pilot randomised study that may shed the light on this
- Infertility is considered a disease by the WHO and most countries, so infertility treatment is allowed. Donor gametes and surrogacy are generally not permitted in Islam.
- Assisted reproduction technologies like IVF and PGD are allowed to help couples conceive, but third parties are not acceptable. Embryo research is only permitted using spare IVF embryos.
- While stem cells are being studied for conditions like premature ovarian failure, there is no evidence they can differentiate into eggs. The risks of stem cell therapy for fertility are still unclear. Cryopreservation and some new techniques also have uncertain religious rulings.
platelet rich plasma is being used in infertility management extensively without sound evidence of its value. In this talk, we will discuss the real impact of using PRP in IVF
This document discusses common pitfalls in infertility management and provides recommendations to avoid them. It notes that too many unnecessary investigations should be avoided, and that semen analysis guidelines have been updated. It recommends not performing procedures like tubal insufflation, D&C, or ovarian drilling without evidence of benefit. Overstimulation during ovarian induction and inappropriate drug responses are highlighted. The use of laparoscopic power morcellation is warned against due to cancer risk. While stem cells may help regenerate follicles in animal models of premature ovarian failure (POF), differentiation into human oocytes has not been achieved.
This document discusses new concepts in oral contraceptive intake, specifically the 24/4 regimen. It begins by providing background on different generations of combined oral contraceptives. It then introduces the 24/4 regimen, which contains ethinylestradiol and drospirenone over 24 days followed by 4 hormone-free days. Studies show this regimen more effectively inhibits follicular development compared to the traditional 21/7 regimen. The 24/4 regimen provides 3 extra days of anti-mineralocorticoid and antiandrogenic effects, and may reduce hormone-withdrawal symptoms. A large observational study found the 24/4 regimen with drospirenone, specifically Yaz, had the lowest contraceptive failure rates including in
Nutritional deficiency Disorder are problems in india.
It is very important to learn about Indian child's nutritional parameters as well the Disease related to alteration in their Nutrition.
Are you looking for a long-lasting solution to your missing tooth?
Dental implants are the most common type of method for replacing the missing tooth. Unlike dentures or bridges, implants are surgically placed in the jawbone. In layman’s terms, a dental implant is similar to the natural root of the tooth. It offers a stable foundation for the artificial tooth giving it the look, feel, and function similar to the natural tooth.
Spontaneous Bacterial Peritonitis - Pathogenesis , Clinical Features & Manage...Jim Jacob Roy
In this presentation , SBP ( spontaneous bacterial peritonitis ) , which is a common complication in patients with cirrhosis and ascites is described in detail.
The reference for this presentation is Sleisenger and Fordtran's Gastrointestinal and Liver Disease Textbook ( 11th edition ).
PGx Analysis in VarSeq: A User’s PerspectiveGolden Helix
Since our release of the PGx capabilities in VarSeq, we’ve had a few months to gather some insights from various use cases. Some users approach PGx workflows by means of array genotyping or what seems to be a growing trend of adding the star allele calling to the existing NGS pipeline for whole genome data. Luckily, both approaches are supported with the VarSeq software platform. The genotyping method being used will also dictate what the scope of the tertiary analysis will be. For example, are your PGx reports a standalone pipeline or would your lab’s goal be to handle a dual-purpose workflow and report on PGx + Diagnostic findings.
The purpose of this webcast is to:
Discuss and demonstrate the approaches with array and NGS genotyping methods for star allele calling to prep for downstream analysis.
Following genotyping, explore alternative tertiary workflow concepts in VarSeq to handle PGx reporting.
Moreover, we will include insights users will need to consider when validating their PGx workflow for all possible star alleles and options you have for automating your PGx analysis for large number of samples. Please join us for a session dedicated to the application of star allele genotyping and subsequent PGx workflows in our VarSeq software.
The biomechanics of running involves the study of the mechanical principles underlying running movements. It includes the analysis of the running gait cycle, which consists of the stance phase (foot contact to push-off) and the swing phase (foot lift-off to next contact). Key aspects include kinematics (joint angles and movements, stride length and frequency) and kinetics (forces involved in running, including ground reaction and muscle forces). Understanding these factors helps in improving running performance, optimizing technique, and preventing injuries.
Osvaldo Bernardo Muchanga-GASTROINTESTINAL INFECTIONS AND GASTRITIS-2024.pdfOsvaldo Bernardo Muchanga
GASTROINTESTINAL INFECTIONS AND GASTRITIS
Osvaldo Bernardo Muchanga
Gastrointestinal Infections
GASTROINTESTINAL INFECTIONS result from the ingestion of pathogens that cause infections at the level of this tract, generally being transmitted by food, water and hands contaminated by microorganisms such as E. coli, Salmonella, Shigella, Vibrio cholerae, Campylobacter, Staphylococcus, Rotavirus among others that are generally contained in feces, thus configuring a FECAL-ORAL type of transmission.
Among the factors that lead to the occurrence of gastrointestinal infections are the hygienic and sanitary deficiencies that characterize our markets and other places where raw or cooked food is sold, poor environmental sanitation in communities, deficiencies in water treatment (or in the process of its plumbing), risky hygienic-sanitary habits (not washing hands after major and/or minor needs), among others.
These are generally consequences (signs and symptoms) resulting from gastrointestinal infections: diarrhea, vomiting, fever and malaise, among others.
The treatment consists of replacing lost liquids and electrolytes (drinking drinking water and other recommended liquids, including consumption of juicy fruits such as papayas, apples, pears, among others that contain water in their composition).
To prevent this, it is necessary to promote health education, improve the hygienic-sanitary conditions of markets and communities in general as a way of promoting, preserving and prolonging PUBLIC HEALTH.
Gastritis and Gastric Health
Gastric Health is one of the most relevant concerns in human health, with gastrointestinal infections being among the main illnesses that affect humans.
Among gastric problems, we have GASTRITIS AND GASTRIC ULCERS as the main public health problems. Gastritis and gastric ulcers normally result from inflammation and corrosion of the walls of the stomach (gastric mucosa) and are generally associated (caused) by the bacterium Helicobacter pylor, which, according to the literature, this bacterium settles on these walls (of the stomach) and starts to release urease that ends up altering the normal pH of the stomach (acid), which leads to inflammation and corrosion of the mucous membranes and consequent gastritis or ulcers, respectively.
In addition to bacterial infections, gastritis and gastric ulcers are associated with several factors, with emphasis on prolonged fasting, chemical substances including drugs, alcohol, foods with strong seasonings including chilli, which ends up causing inflammation of the stomach walls and/or corrosion. of the same, resulting in the appearance of wounds and consequent gastritis or ulcers, respectively.
Among patients with gastritis and/or ulcers, one of the dilemmas is associated with the foods to consume in order to minimize the sensation of pain and discomfort.
Debunking Nutrition Myths: Separating Fact from Fiction"AlexandraDiaz101
In a world overflowing with diet trends and conflicting nutrition advice, it’s easy to get lost in misinformation. This article cuts through the noise to debunk common nutrition myths that may be sabotaging your health goals. From the truth about carbohydrates and fats to the real effects of sugar and artificial sweeteners, we break down what science actually says. Equip yourself with knowledge to make informed decisions about your diet, and learn how to navigate the complexities of modern nutrition with confidence. Say goodbye to food confusion and hello to a healthier you!
8. ASAP
• The decision for fertility preservation
should be considered as soon as possible
to maximize the likelihood of success.
9. Jeruss and Woodruff (2009) New England Journal of Medicine.
What
Technique
is
Appropriate
?
10. Female : embryo cryopreservation
• Requires 10–14 days of ovarian stimulation
from the beginning of menstrual cycle
• It is a surgical procedure
• Requires husband
• Cost: per cycle, storage fees
11. Oocyte cryopreservation
• Still experimental
• (3-4 times lower success rate than
standard IVF)
• Vetrification can be a good option
12. Male: Sperm cryopreservation
• Outpatient procedure;
• Cost approximately 1,500 for three
samples stored for 3 years
• Most effective way
13. Safety
• no detectable increased risk of disease
recurrence associated with most fertility
preservation methods and pregnancy,
even in hormonally sensitive tumors.
14. Offspring
• no evidence that a history of cancer
therapy, or fertility interventions increase
the risk of cancer or congenital
abnormalities in the offspring.
15. In brief
• The two methods of fertility preservation
with the highest likelihood of success are
sperm cryopreservation for males and
embryo freezing for females.
16. For Tomorrow Better health
• Preservation of fertility
• Prevention of disease
• Improvement of health
25. Using FISH for PGD of
X-linked disorders
• Three colour FISH
• X ( green)
• Y (red)
• Chromosome 18 to
control for normal
diploidy
Male
Female
26. Al-Gazali, L. et al. BMJ 2006;333:831-834
Fig 1 Two Arab pedigrees showing high level of consanguinity, large family size, and
several affected children in different sibships
27. Al-Gazali, L. et al. BMJ 2006;333:831-834
Fig 2 Average rates of marriages between first cousins among Arabs
28. Premarital
• Some countries have started prevention
programs for certain common genetic
disorders, such as premarital carrier
screening for haemoglobinopathies
29. Iran
• A premarital thalassaemia screening and
counselling programme resulted in
reduction in birth of affected babies by
70% within five years.
30. But
• This approach is used in Bahrain, Saudi
Arabia, and Jordan. However, experience
from SA shows that most couples choose
to marry despite a high risk of inherited
genetic disease in their offspring.
31. IVF + PGD
Transfer only unaffected embryos to the woman
affected affectedaffected
32. How effective is it?
Single gene disorders
Guy’s 97-04 Rome 99-04* ESHRE 98-03
>40 centres
Cycles 159 - -
Recovery 135 - 2868
Biopsy 125 182 2701
ET 113 173 2173
Clin Preg
(%/ET/biop/OR)
38
(33/30/28)
48
(28/26/?)
514
(24/20/18)
Livebirth 33 37 411
* Fiorentino et al Hum Rep 2005•Assume 80% continue
33. monogenic disease
• may be a therapeutic tool in families with
an already affected offspring
34. Options
• not having children
• natural conception and hoping that the
coming child is unaffected
• natural conception and genetic testing of
the fetus with an option of termination if
the child is affected (Ethical??)
• IVF and PGD, replacing only unaffected
embryos.
36. The Aim
• not only to avoid the birth of affected child
(prevention),
• At delivery, haematopoietic stem cells
HSC from the newborn umbilical cord
blood are collected and used for the
haematopoietic reconstruction of the
affected sibling (cure)
37. It is already done
• The first case performed for Fanconi
anaemia complementation group C (FA-
C), resulted in successful haematopoietic
reconstitution in the affected sibling by
transplantation of stem cells obtained from
the HLA-matched offspring (Verlinsky Y et
al, 2001).
38. • For Thalassemia, when an HLA identical
sibling marrow donor is available, the
chance of cure is currently over 90%.
Locatelli 2003
• whereas in the case of a acquired disease
such as leukemia it is much lower
(50%)(Eapen 2006) because here the
patient also has to be cured from the
tumour.
40. Nash Case : Fanconi anaemia
• did her parents choose to have a healthy
baby because they wanted another child,
or because they wanted a source to help
cure their daughter?
41.
42. ESHRE 2005
• Affected previous child of these parents
has malignant disorder or genetic disorder,
and the child is likely to be cured or life
expectancy to be substantially prolonged
by cord blood stem cell transplantation
from an HLA matched identical sibling
43. For Tomorrow Better health
• Preservation of fertility
• Prevention of disease
• Improvement of health
45. Families with Cancer
• Familial Adenomatous Polyposis (FAP)
• Multiple Endocrine Neoplasia 2
• Retinoblastoma
• Breast cancer (BRCA1 and BRCA2
genes )
• Hereditary non-polyposis colorectal cancer
• All these cancers are autosomal dominant
traits that usually manifest in adulthood,
but can occur occasionally in children
46. Options
• not having children
• natural conception and hoping that the
child is unaffected
• natural conception and genetic testing of
the fetus with an option of termination if
the child is affected (Ethical??)
• IVF and PGD, replacing only unaffected
embryos.
47. IVF + PGD
Transfer only unaffected embryos to the woman
affected affectedaffected
49. Sex selection
• For family balancing
• poses numerous clinical, social, psychological,
ethical dilemma
50. Ethical issues
• Islamic legal viewpoint is that fetal sex
selection is lawful when it is practiced on
an individual basis, to fulfill the wish of a
married couple to have a boy or a girl
through available medical means.
52. What after screening!!
• Doctors successfully screened embryos
for gene mutation linked to early onset
Alzheimer's
JAMA, March, 2002
53. Late-onset Disorders
• are complex and have both genetic and
environmental causes.
• such as Alzheimer’s, With no current
prospect for the treatment of Alzheimer's
disease, prevention of an inherited
predisposition to Alzheimer's is the only
option for couples at risk
56. 10 oocytes
8 fertilized
5 survive biopsy
6 cleave to 8-16 cell
1 no diagnosis
1 aneuploid
2 males
1 female for replacement
Practical realities 6
Attrition of embryos
Example for a sex linked disorder
e.g. Haemophilia / Duchenne MD
57. IVF associated risks
- high cost
- risk of not getting pregnant;
- increased risk of a multiple birth
- risk of OHSS (Difficult to balance
adequate egg numbers and the risk of
OHSS ).
58. • embryo biopsy may lower embryo
implantation rates (Mastenbroek et al,
2007)
59. For Tomorrow Better health
• Preservation of fertility
• Prevention of disease
• Improvement of health
60. To achieve this
• The Egyptian IVF-ET center has started its
Thalathemia prevention program and is
ready to help