Preimplantation Genetic Diagnosis (PGD IVF) Preventing Ashkenazi Jewish Genetic Diseases

AtlantisEmpire
Published on Aug 20, 2021
Jennifer and Ryan Kaluzny share the special pathway they needed to avoid passing on the legacy of a debilitating genetic disorder, Gaucher's disease, to their children. IVF therapy with preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD) may be needed for couples with normal fertility who as future parents, carry a genetic abnormality that when passed to their child can result in devastating mental and physical disabilities, loss of life quality and may be fatal. With and embryo biopsy of cells for genetic testing done before an embryo is placed in the womb, only embryos free of the genetic disorder would be selected for transfer into the womb. At Michigan Reproductive Medicine, we provide state of the art genetic testing of embryos in advance of transfer into the womb with excellent results.

Preconception testing (blood test) can be done to assess parents-to-be for possibly carrying a genetic disorder that may not effect them, but if they marry a partner who also carries the genetic mutation, they can have a child profoundly affected by the genetic disease. Genetic disorders most common across all ethnicities are cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. Genetic disorders that are more common based on a person's ethnic background include those with 1) Ashkenazi Jewish heritage which is about 80% of Jewish people in the United states with 1 in 4 carrying (no symptoms) one of about 12 different genetic mutations, blood disorders; 2) in those from the Mediterranean rim, southern Asia and Africa- Thalassemia and sickle cell disease. PGS and PGD technology is helping couples like the Kaluzny's to realize their dream of having their daughter Bayla and several years later, their son Asher, both healthy, happy, intelligent, active and ending the line of stealth genetic disorders in their family. This technology of comprehensive chromosome screening can also screen embryos for abnormal number and distribution of chromosome such as Downs Syndrome which can lead to early miscarriage, failure of pregnancy even with IVF therapy. Selecting embryos for transfer into the womb that have a normal number and distribution of chromosomes eliminates about 2/3 of the reasons for failure of pregnancy or miscarriage. This provides a greater opportunity for successful pregnancy of a healthy child and avoid miscarriage and the related delay to recover before trying again for a successful pregnancy.