Report of a Triploid Fetus Identified in a Pregnancy with Oligohydramnios

This report describes a pregnancy with a triploid fetus identified from a scan for anomalies at 18 weeks and confirmed by amniocentesis. A 29-year-old, primigravida woman was referred to our clinic for genetic counseling at 18 weeks of gestation because of a mild oligohydramnios due to amniotic fluid index (AFI) less than the fifth percentile in her 18th week. The woman underwent amniocentesis, which revealed a karyotype of 69,XXX. There was no consanguinity in this family. In postmortem evaluation, we encountered a hydrocephalic fetus with an aberrant skull shape, including dysplastic calvaria with large posterior fontanel, marked intrauterine growth retardation (IUGR) in addition to syndactyly of third and fourth fingers, exophthalmia, cleft palate, low set malformed ears, micrognathia and club foot. Early prenatal diagnosis of this syndrome would provide women an opportunity to terminate a pregnancy earlier, which can prevent the risks associated with late induced abortion or obstetric complications. The results of this study also provides useful information for prenatal genetic counseling.