Hj. Voigt et al., SONOGRAPHICAL RECOGNITION OF INDICATIONS OF CHROMOSOMAL-ANOMALIES IN THE 1ST AND 2ND TRIMESTER - RESULTS OF A PROSPECTIVE-STUDY, Geburtshilfe und Frauenheilkunde, 54(8), 1994, pp. 460-467
4053 pregnancies were studied prospectively during 4 years (July 1988
to June 1992) with regard to the sonographical recognition of indicati
ons of chromosomal anomalies from 9 to 24 weeks, irrespective of the m
other's age. The morphology of the fetal organs, the phenotype, the pr
oportions of the fetal body, biometrical data and disorders of the pla
centa and the amniotic fluid were scrutinised. For the prediction of a
chromosomal anomaly, a high sensitivity of 86.3 % and specificity of
99.8 % were found; the prevalence was 1.8 %. The thickening of the nuc
hal fold or a nuchal oedema was the most significant fetal stigma and
a guiding symptom in Turner's syndrome and in trisomy 21 and 18. When
suspicious facts were found during ultrasonography, karyotyping was pr
oposed after detailed counselling, especially to mothers below the age
of 35. The extended sonographical examination is considered a non-inv
asive tool to differentiate the statistical age related risk of a chro
mosomal anomaly in each individual case.