Preimplantation Genetic Diagnosis (PGD)

Preimplantation genetic testing is a technique utilizes to identify genetic defects in embryos created during in vitro fertilization (IVF) before pregnancy.
Preimplantation genetic diagnosis (PGD) refers specifically to when one or both genetic parents have a known genetic irregularity and testing is performed on an embryo to resolve if it also carries a genetic abnormality.

Preimplantation Genetic Diagnosis (PGD) involves screening single cells from embryos for genetic diseases and chromosomal disorders. This testing is performed with in-vitro fertilization (IVF) and occurs prior to embryo transfer, before a pregnancy is established. PGD offers at-risk couples the opportunity to select embryos for transfer based on their genetic and chromosomal status.

The goal of PGD is to identify abnormal embryos so they will not be transferred, leaving unaffected embryos to be selected for transfer that are more likely to make healthy, disease-free babies.

PGD can identify the presence of chromosomal translocations (rearrangements of parts of chromosomes) and single-gene disorders (genetic diseases that are the result of a single mutated gene). There are over 4,000 single-gene disorders. The most common diseases tested for are Cystic Fibrosis, Tay Sachs, Fragile X, Myotonic Dystrophy and Thalassemia.

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