Ring chromosome 18 in a fetus with only facial anomalies.

We report on a prenatally detected case of ring chromosome 18 [46,XX,r(18)] in amniotic fluid cells of a fetus with an abnormal facial profile on ultrasound as the only malformation. The chromosome 18 origin of the ring chromosome, of a supernumerary marker chromosome in some cells, and of micronuclei was demonstrated by fluorescent in situ hybridization with a whole chromosome 18 paint (Cambio) and 18 centromere probe L1.84. DNA investigations showed deletions of 18p as well as 18q material of r(18), which turned out to be of paternal origin. Autopsy of the fetus after termination of pregnancy at 20 weeks of gestation showed no additional malformations, in agreement with the previous ultrasound findings.

Fetal outcome in nuchal translucency with emphasis on normal fetal karyotype.

The aim of this study was to evaluate fetal outcome in fetuses with a nuchal translucency thickness of 3 mm or more, with emphasis on those with a normal karyotype. Between 1991 and 1994, a total of 104 pregnancies with suspected ultrasound abnormalities were referred to our prenatal unit for a fetal anomaly scan before 16 weeks of gestation. Of these 104 pregnancies, 54 were referred because of a nuchal translucency thickness of 3 mm or more. Data on these 54 pregnancies will be presented. Karyotyping was performed in all cases. An abnormal karyotype was found in 26/54 (48 per cent) pregnancies. A normal karyotype was established in the remaining 28 pregnancies. In this subset, five associated structural anomalies were detected at the first anomaly scan (9-15 weeks). Two pregnancies were terminated because of isolated nuchal translucency. In four of the continuing 21 pregnancies, additional structural anomalies were detected only at the second anomaly scan (16-20 weeks). Two of these were terminated because of bilateral renal dysplasia and a combination of exomphalos and ectopia cordis. Finally, 19 pregnancies progressed uneventfully and resulted in spontaneous delivery at a median gestational age of 40 weeks. A statistically significant difference in mean nuchal translucency thickness was found between cases with and without associated structural anomalies. This relationship indicates a more pronounced nuchal translucency thickness to be associated with a higher incidence of additional structural anomalies and, as a result, a poorer fetal outcome.

Multiple intracardiac tumors: spontaneous prenatal recovery of fetal bradyarrhythmia.

Although prenatally detected intracardiac tumors are reported to have a poor prognosis, tumor regression and even tumor disappearance have been observed during childhood. A case of prenatal cessation of fetal cardiac tumor growth and return of cardiac arrhythmia to normal sinus rhythm is presented.