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Preimplantation Genetic Diagnosis/Screening (PGD/S) Helps Us Deliver Healthy Babies

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One of the most painful experiences a parent can endure is delivering a child that suffers from a debilitating and devastating genetic disorder. One of every 33 babies is born with a birth defect in United States, among which 20-30% are caused by gene defects or chromosomal disorders. The Center for Reproductive Medicine is dedicated to working with families to conceive healthy embryos with the help of preimplantation genetic diagnosis (PGD). In conjunction with in vitro fertilization and embryo biopsy, PGD has opened up a new area for the prevention of birth defects. PGD allows prenatal testing to occur as early as three to five days after fertilization when the embryos are still in the culture dish.

PGD is for patients who are at serious risk of delivering babies with specific genetic diseases such as cystic fibrosis, Tay-Sachs disease, sickle cell anemia, Duchenne muscular dystrophy, alpha- and beta-thalassemia, Robertsonia translocation and other chromosomal abnormalities. PGD requires patients to undergo in vitro fertilization (IVF) process to obtain preimplantation embryos for biopsy. Three to five trophectoderm cells are extracted from a day 5 or day 6 blastocyst stage embryo and sent off for detection of single gene defects or chromosomal abnormalities. For more information about the genetic disorders for which Genesis Genetic has successfully performed PGD, please go to website

Embryos with chromosome abnormalities either do not implant or miscarry, Embryos with chromosome abnormalities either do not implant or miscarry, Embryos with chromosome abnormalities either do not implant or miscarry,In partnership with genetic testing laboratories, we have expanded our in vitro fertilization program to include preimplantation genetic screening (PGS) – a promising approach to screen all 24 chromosomes to minimize the risk of transferring embryos with chromosomal abnormalities. Currently next-generation sequencing (NGS)-based technology has been applied in clinical preimplantation genetic screening cycles for the selection of embryos with correct number of chromosomes. PGS improves ongoing pregnancy rates and decreases miscarriage rates by selecting both morphologically and chromosomally normal embryos. To increase the chances of having a chromosomally normal embryo for transfer, we also offer embryo batching to help build families for patients experiencing unexplained recurrent pregnancy loss, low responders, or who are of advanced reproductive age.

Only embryos free of chromosomal abnormalities or specific genetic disorders are transferred to the uterus, PGD/S therefore provides couples at risk the opportunity to know that any pregnancy they achieve should be unaffected. PGD/S obviates the need of traditional prenatal diagnosis during a pregnancy and hence prevents the physical and psychological trauma, and ethical-moral problems associated with possible pregnancy termination.

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Last Updated: 10-28-2016
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