Prenatal diagnosis of genetic defects.
A wide discrepancy exists between the number of amniocenteses performed for prenatal diagnosis of genetic abnormalities and the size of the population at risk of having offspring with these abnormalities. A small percentage of the women at risk are being offered amniocentesis. The optimal time for amniocentesis is 14 to 16 weeks of pregnancy. Preliminary ultrasonography is indicated in all instances. Highly specialized biochemical tests may be necessary and should be done at special centralized laboratories. The risk of complications of amniocentesis is 0.5% to 1%.
D000328:Adult; D000649:Amniocentesis / Q000009:adverse effects; D000013:Congenital Abnormalities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D009436:Neural Tube Defects / Q000175:diagnosis; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000175:diagnosis; D014960:X Chromosome