Targeted ultrasonographic screening for nuchal fluid accumulation during the first trimester (9-13 weeks) seems to be a recommendable method for the detection of Down's syndrome and other chromosomal anomalies in pregnant women. It compares favorably with current methods of maternal serum screening performed during the second trimester. Using a 4-mm cut-off value, the detection rate of aneuploidy among our population was found to be 57.1%, with a false-positive rate of 0.7% and a positive predictive value of 72.7%. Chromosomal analysis should be considered for fetuses with nuchal translucency equal to or greater than 4 mm in the first trimester.

Although the value of a single measurement for screening purposes needs to be confirmed by further investigation, our preliminary data suggest that chromosomal anomalies, especially trisomy 21, may be suspected in fetuses with an abnormally low FHR in early pregnancy. In chromosomally normal fetuses, the detection of an abnormally high FHR in some degree may be predictive of fetal loss after the invasive procedure.

A case of body stalk anomaly diagnosed prenatally by ultrasound during the 24th week of pregnancy in a cocaine abusing mother is presented. Accurate visualization of the fetal organs was difficult due to the severe oligohydramnios caused by premature rupture of membranes, probably related to the cocaine use. The sonographic findings were an omphalocoele, fetal attachment to the placenta, kyphoscoliosis, and absence of a floating umbilical cord. The prenatal diagnosis of the syndrome and the possible relationship with cocaine abuse are discussed.

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