Intrauterine death of a child with Goldenhar syndrome: a case presentation and review of the literature

Excerpt

In the present report we describe a 35-year-old gravida II, para I. Her first presentation in our department for prenatal diagnosis was with 14 + 2 weeks of gestation. The patients’ first child was delivered at term without any abnormalities. Her medical and familial histories were unremarkable with a non-consanguineous marriage. At this point ultrasound examinations (Toshiba, Aplio XG, 6.5 MHz probe) presented a vital eutrophic fetus. A vitium cordis was diagnosed in the fetal echocardiography and later specified as a double-outlet right ventricle (DORV). In addition, multicystic renal dysplasia and retrognathia were seen. The Doppler examinations revealed a negative a-wave of the ductus venosus, implicating a regurgitation of the tricuspid valve. The remaining Doppler parameters of the umbilical artery, the middle cerebral artery and the uterine arteries were within normal ranges. Based on the heterogenic findings, a syndromatic disease was considered. The following amniocentesis showed a normal, male karyotype (46 XY). The subsequent examinations at 17 + 5, 21 + 4, 30 + 4 weeks of gestation displayed eutrophic fetal development with no further fetal malformations or any other signs of abnormality. From the beginning, there was an open communication with the parents about the fetal’s unclear diagnosis and prognosis and with their agreement the pregnancy was further prolonged as it has always been their wish. …