Genetic mutation screening of preimplantation embryos (via amniotic fluid or embryo biopsy)

Why This Test Is Done

Patients undergoing IVF may undergo preimplantation genetic testing (PGT) to screen embryos for known genetic mutations. This test is particularly useful for couples with a family history of genetic disorders or those carrying known mutations in genes associated with inherited conditions. It helps increase the likelihood of a healthy pregnancy by selecting embryos without harmful mutations for transfer.

How the Test Works

A small sample of embryos is collected during the IVF process. Genetic material (DNA) is extracted from these embryos and analyzed for specific mutations. Advanced techniques, such as next-generation sequencing, identify any genetic variations that may pose risks to the embryo’s health or the potential for hereditary conditions in future generations.

Sample Collection and Preparation

The sample is typically obtained either through amniocentesis (if embryos are biopsied during early development) or by directly analyzing cells from cultured embryos. The DNA is then processed in a laboratory to detect mutations.

What to Expect Before the Test

Since this test is part of IVF, patients will have already undergone embryo biopsy or amniocentesis as part of their fertility treatment. Results are usually available within days to weeks, depending on laboratory processing times.