Zusammenfassung
The indications for invasive prenatal diagnosis (PND) for the detection of fetal chromosomal abnormalities have shifted during the last decade. The exclusive indication for invasive diagnostics because of maternal age (age of the pregnant women >= 35 years) has, become less important in favor of an individual indication consisting of maternal age, detailed ultrasonography and fetal ...
Zusammenfassung
The indications for invasive prenatal diagnosis (PND) for the detection of fetal chromosomal abnormalities have shifted during the last decade. The exclusive indication for invasive diagnostics because of maternal age (age of the pregnant women >= 35 years) has, become less important in favor of an individual indication consisting of maternal age, detailed ultrasonography and fetal echocardiography. Using high resolution ultrasound scan and vaginal ultrasound fetal anomalies or markers (for example structural anomalies such as omphalocele, heart defects, CNS abnormalities, megacystis and anomalies of the extremities, and "markers" such as enlarged nuchal translucency, hygroma colli and hydrops fetalis) associated with chromosomal abnormalities and non chromosomal severe syndromes can be detected during the first trimester. The early detection of such structural anomalies and markers for syndromes makes it possible to offer invasive diagnostics for fetal karyotyping after detailed and individual counseling of the couples. The development of non-invasive methods in prenatal diagnostics are reflected in a decline of invasive prenatal interventions (amniocentesis [AC], chorionic villi sampling [CVS]) with an increase of abnormal chromosomal findings during the last 15 years at the department of gynecology and the institute of human genetics of the university of Luebeck.
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