[Noninvasive screening for chromosome abnormalities in young pregnant patients].
Two thirds of the patients with Down's syndrome are born by women below 35 years of age. An extension of invasive prenatal diagnosis to these women is problematical due to the operative risks and the relatively high costs. Therefore, non-invasive screening methods are sought, apt to identify groups at high risk. Biochemical screening methods applied at 16 weeks of pregnancy (triple test) and the new first trimester tests are discussed. Ultrasound screening at 10 to 12 weeks is dealt with in more detail. A large fluid cushion over most of the back was documented not only in most cases of trisomy 21 but in trisomies 18 and 13 and in Turner's syndrome as well. Only few chromosomally normal fetuses with the same peculiarity were observed. Systematic first trimester screening for nuchal fluid accumulation seems to be a recommendable method for the detection of chromosome anomalies. It compares favourably with current methods of maternal serum screening performed at 16-18 weeks which require a manyfold higher number of invasive procedures.
Schmid
W
W
Institut für Medizinische Genetik, Universität, Zürich, Schweiz.
D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
Nichtinvasives Screening auf Chromosomenanomalien bei jungen Schwangeren.