Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis

Abstract

Objective: To report the first known case of 6p deletion presenting in utero with hydrops fetalis and multiple anomalies in the second trimester of pregnancy. Methods: A thirty-year-old woman (gravida 3 para 1 abortion 1) was referred to our hospital at 18 weeks of gestation because of suspicion of fetal anomaly on routine ultrasound examination. A detailed anomaly scan revealed a single viable fetus with marked skin edema, marked ascites, pleural effusion, hydronephrosis of left kidney, absence of right kidney, cardiac anomaly and oligohydramnios. The fetal face was not visible due to the fetal position. Fetal karyotyping revealed 46,XX,del(6)(p21.3). The couple opted to terminate the pregnancy. Results: A hydropic female fetus was aborted and the autopsy revealed hydrops fetalis with bilateral cleft lips, hydronephrosis of left kidney, absence of right kidney, spleen, and thymus gland, truncus arteriosus, and single umbilical artery. Cord blood and tissue culture confirmed that the fetus had deletion of chromosome 6p. Conclusion: Deletion of short arm of chromosome 6 can result in hydrops fetalis in early pregnancy. Copyright © 2004 John Wiley & Sons, Ltd.