Prenatally diagnosed obstructive uropathy in a case with trisomy 13 in a 16 weeks old fetus

Abstract

Abnormalities associated with trisomy 13 include holoprosencephaly, facial abnormalities of midline, polydactyly, congenital hearth defect, omphalocele and polycystic kidneys. Herein,we report the perinatal finding of a huge midline cystic bladder secondary to lower urinary tract obstruction associated with trisomy 13 in a male fetus. This case is a 41 years old multiparous woman; gravida 4, para 3, at 16 weeks pregnancy.Routine second trimester ultrasound scan revealed a distended bladder, lateral ventricular dilatation and bilateral hydronephrosis. Amniocentesis was performed and cytogenetic analysis revealed trisomy 13 (47, XY, +13). Pregnancy was terminated at 18 weeks with the informed consent of the family.Postmortem examination was not performed because the parents did not approve. Urethral obstruction is a rare finding in trisomy 13 but chromosomal anomalies occur in 23% of the fetuses with obstructive uropathy. Trisomies 18 and 13, del 2q, and 69XXY have been reported to occur in prenatally diagnosed obstructive uropathy.