[Molecular genetic testing in amniotic fluid].
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.
Simon-Bouy
B
B
Laboratoire SESEP, université de Versailles, Saint-Quentin, 45, avenue des Etats-Unis, 78000 Versailles, France. brigitte.simon-bouy@cytogene.uvsq.fr
Mornet
E
E
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry / Q000166:cytology*; D000782:Aneuploidy; D004247:DNA / Q000032:analysis*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005820:Genetic Testing; D006801:Humans; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D004247:DNA
Dépistages génétiques par la biologie moléculaire dans le liquide amniotique.