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Introduction
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Preimplantation Genetic Diagnosis (PGD), formally known as PGT-M (Preimplantation Genetic Testing for Monogenic/Single Gene Disorders), is designed to help couples with a single-gene hereditary disease avoid passing it on to their children. Like PGT-A, this technique requires cultivating the embryo to the blastocyst stage, where a biopsy is then performed for testing. Blood samples from the couple and their family are first collected to identify known genetic mutations. Based on this information, specific mutation detection probes are designed, or Whole Exome Sequencing (WES) is conducted. After the molecular genetics laboratory confirms whether the embryo carries the genetic mutation, only healthy embryos without the hereditary disease are implanted.
Who should receive a PGD test?
Spouses and those with Hemophilia, Thalassemia, Ankylosing Spondylitis, Spinocerebellar Ataxia, etc.
Limitations of Testing: The purpose of PGD is to select healthy embryos that do not carry the "known mutation of a hereditary disease" for implantation. However, it cannot detect unknown genetic mutations, non-familial hereditary diseases, small chromosomal deletions, or aneuploidy.
*Even after undergoing PGD, it is still recommended to perform an amniocentesis. PGD can be combined with comprehensive chromosomal screening to reduce the risk of other abnormalities. Additionally, in rare cases, there may be a risk of undetected issues due to the unique nature of certain genetic sequences.*
FAQs:
1. Can PGD guarantee a 100% healthy baby after pregnancy?
No, it cannot guarantee that. As mentioned earlier, both PGS and PGD technologies have limitations, with certain genetic abnormalities that cannot be detected through these screenings. Therefore, it's essential to continue with thorough prenatal checkups during pregnancy to ensure the healthy development of the baby.