Preimplantation genetic diagnosis (PGD) is the genetic profile of embryos and, in some cases, babies in women who are planning a pregnancy before they are implanted. PGD is frequently regarded in the same light as prenatal diagnosis. The approach consists of multiple steps, each of which is used to assess the embryo's or foetus' individual genetic makeup before determining a procedure that can be employed for conception. Preimplantation genetic diagnosis is usually possible for couples that have a high chance of conceiving a specific sex.
Couples choose to take this test for a variety of reasons. Many couples may discover that they have a genetic tendency for one sex over the other, and preimplantation genetic diagnosis can help them figure out if this is the case. Other couples who aren't sure if they're genetically compatible can employ preimplantation genetic diagnostics to guarantee that their zygote pairing is genuine and not the result of something else. Couples who have a good likelihood of having a baby can also get prenatal and postpartum testing. Prenatal visits can assist healthcare providers in keeping track of the patient's and the child's health.
Preimplantation genetic diagnosis can be offered for three major categories of disease. Firstly, it can be used to determine the sex of the embryo for sex linked disorders where the specific genetic defect at a molecular level is unknown, highly variable, or unsuitable for testing on single cells—for example Duchenne muscular dystrophy.1 Secondly, it can be used to identify single gene defects such as cystic fibrosis, where the molecular abnormality is testable with molecular techniques after polymerase chain reaction (PCR) amplification of DNA extracted from single cells.2 Thirdly, it can be used in chromosomal disorders, where fluorescence in situ hybridisation has been developed to detect a variety of chromosomal rearrangements, including translocations, inversions, and chromosome deletions.3 Some potential parents who carry a chromosomal rearrangement may never have achieved a viable pregnancy before requesting preimplantation genetic diagnosis if each previous conception resulted in a chromosomally unbalanced embryo which miscarried spontaneously.
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