P145: Mid second trimester prenatal diagnosis of vater association

VATER association is an acronym for vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and renal anomalies. It is rare and sporadic and with no recognized teratogen or chromosomal abnormality. A mitochondrial DNA disorder has been suggested. To date a few of prenatal diagnosis of VATER association have been reported in literature. We report a case of VATER association diagnosed as earlier as the 20th week of gestation associated with a number of fetal anomalies. The consultant, a 33-year old Caucasian woman, gravida3, para1, was referred to our prenatal diagnosis unit because of a previous US scan showing a single vessel umbilical cord, an omphalomesenteric cyst, hypoplasia of left cerebellar hemisphere, ectasia of the aortic arch, a suspicious of anal atresia, sacral anomalies. Normal female foetal karyotype, 46 XX, obtained by amniocentesis, was found. The 20th-week scan confirmed the previous diagnosis but the cerebellar hypoplasia showing as well a coarctation of the descending aorta, a mild bilateral renal pyelectasis with a dysplastic appearance, a diagnosis of sacral agenesia was made. Genitalia was definitively ambiguous with an hypertrophic tuberculum ending with an anechoic cyst showing gross variation during the scan as for the urethrocele. Stomach was not detected during the all US examination. Even tough, due to the earlier of the gestational week, there were no signs of tracheoesophageal fistula, on the basis of the US scan a diagnosis of VATER syndrome associated with ambiguous genitalia was made. After prenatal and genetic counselling parents decided for pregnancy termination at 20 weeks of gestation. Dismorphological and X-ray examination confirmed the US diagnosis and necroscopy further detected an esophageal atresia. This case confirm that the VATER association can be readily diagnosed in utero, and that prenatal diagnosis can contribute to clinical decisions regarding pregnancy.