Latest Developments in Genetic Testing

What advancements have been made in pre-implantation genetic testing of embryos or genetic testing during pregnancy? Our guest to talk about the latest developments in genetic testing is Dr. Mark Evans, medical director at Comprehensive Genetics and Professor of Obstetrics & Gynecology at Mt. Sinai School of Medicine. Dr. Evans is President of the Fetal Medicine Foundation of America, President of the International Fetal Medicine and Surgery Society Foundation, and Past President of the Central Association of Obstetricians and Gynecologists, and has won multiple national research awards including the President’s award for achievement by the Society for Gynecologic Investigation.

Hit the Highlights
  • What are the primary types of birth defects that can be tested for preconception and during pregnancy?
  • What type of diseases and conditions can be tested for with a blood test?
  • What are the Inherited Mendelian defects?
  • How to test for Mendelian defects?
  • How can spinal birth defects be detected?
  • How can spinal birth defects be prevented?
  • How can cardiac birth defects be detected?
  • How can cardiac birth defects be prevented?
  • How can chromosomal abnormalities which cause birth defects be detected?
  • How can chromosomal abnormalities be prevented?
  • What psychiatric conditions are inherited?
  • Fragile X disorder
  • Spinal muscual atrophy
  • Cystic Fibrosis
  • What birth defects are associated with specific ethnicities?
  • Risks of Chorionic villus sampling (CVS).
  • How early can Chorionic villus sampling, or CVS, be performed?
  • What are the risks of amniocentesis?
  • How early can amniocentesis be performed?
  • How does age of mother affect risk of birth defects?
  • How does age of father affect risk of birth defects?
  • What genetic test should a woman have when trying to conceive?
  • Can Preimplantation Genetic Diagnosis (PGD) predict which embryos are likely to implant and grow into a baby?
  • Can Preimplantation Genetic Diagnosis prevent miscarriage?
  • What birth defects increase with maternal age?
  • What birth defects increase with paternal age?
  • What is the risk to the embryo of Preimplantation Genetic Screening (PGS) or Preimplantation Genetic Diagnosis (PGD)?

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Image Credit: CIMMYT