[Increased fetal nuchal translucency as a predictor of Cantrell's pentology--case report]

Increased fetal nuchal translucency (NT) is not only associated with chromosomal aberrations such as Down syndrome but is also predictive for fetal malformations such as cardiac anomalies or an omphalocele. Conversely, an omphalocele can be associated with other structural or chromosomal abnormalities. Cantrell's pentalogy is a rare congenital syndrome involving a midline supraumbilical abdominal wall defect, a defect of the lower part of the sternum, a deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium and congenital heart malformation. Its prevalence amounts to 5.5 per 1 million neonates. The aetiology is still unknown. We present a case with a pentalogy of Cantrell detected by an increased NT. A 23-year-old woman, primigravida, was referred to our unit at 10 + 3 weeks gestation with an increased NT. Ultrasound scan revealed a CRL of 31.1 mm and an NT of 3.2 mm. In addition to this an omphalocele with a herniac sac involving a part of the liver was suspected. Because of these sonographic findings a chromosomal analysis (CVS) was performed. The karyotype of the fetus showed to be normal (46 XX). A follow-up scan at 13 + 3 weeks gestation demonstrated the foetal abdomen with a supraumbilical midline abdominal wall defect with a large omphalocele containing the liver and stomach as well as an ectopia cordis. The extremities, head and spine seemed to be normal. After detailed counselling about the severity of the syndrome and its dismal prognosis the couple decided for a termination of pregnancy. Autopsy confirmed the prenatal sonographic findings. Measurement of foetal nuchal translucency at first-trimester screening has become a routine procedure in the early targeted search for foetal Down syndrome and other aneuploides. Investigations showed that increased NT is also associated with cardiac malformations. As a special form of a cardiac abnormality in conjunction with an omphalocele, it seems that the pentalogy of Cantrell is facultatively also associated with an increased NT at the end of the first trimenon and should be considered in the differential diagnosis as a cause of increased NT.