Abstract
A retrospective evaluation of 463 prenatal chromosome analyses in a total of 375 patients with suspicious ultrasound findings, revealed a high rate of severe chromosomal abnormalities (16%). The highest risk for an abnormal karyotype was found after sonographic detection of hygroma colli. Abnormal chromosome counts were also frequently found in fetuses with omphaloceles, duodenal atresia and hydrops fetalis, as well as in presence of intrauterine growth retardation and/or anomalies of the amniotic fluid volume. The anomalies mentioned above are, therefore, an urgent indication for a prenatal chromosome analysis. The technical improvements of ultrasound machines and growing experience of operators will lead to an increasing importance of sonography as a method for the identification of pregnancies, that are at high risk for chromosomal abnormalities.
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