[Molecular genetic testing in amniotic fluid].

B Simon-Bouy; E Mornet

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[Molecular genetic testing in amniotic fluid].

B Simon-Bouy·E Mornet

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Abstract

The recent progress in cloning and sequencing the genes responsible for genetic diseases and the use of Polymerase Chain Reaction (PCR) allow to test genetic diseases with a few quantity of DNA. Amniotic cells are easily sampled by using amniocentesis. When abnormal ultrasound allows to suspect a genetic disease, PCR on DNA from amniotic cells is a very efficient test to confirm or exclude the presence of the disease. Microsatellites sequences can be used on amniotic cells as a rapid test for chromosomal aneuploidies.

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Amniocentesis Amniotic Fluid Aneuploidy DNA Female Genetic Diseases, Inborn Genetic Testing Humans Polymerase Chain Reaction Pregnancy Prenatal Diagnosis English Abstract Journal Article

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B Simon-Bouy, E Mornet. 2002. [Molecular genetic testing in amniotic fluid].. https://pubmed.ncbi.nlm.nih.gov/12043509/

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