Novel,Nonsyndromic,Multiple Congenital Abnormalities Detected in an Early Second Trimester Fetus

Abstract

Lower urinary tract obstruction (LUTO), anorectal atresia, exomphalos, congenital diaphragmatic hernia (CDH), and disorder of sexual differentiation (DSD) are severe congenital abnormalities. Prenatal diagnosis of each abnormality has been described in early pregnancy with varying consistency. This is likely the first published report of a sporadic presentation of all five malformations combined identified in a single early pregnancy case. A 31-year-old primigravida woman was referred for a subsequent sonogram following identification of dilated large bowel loops on a previous sonogram completed at 13 weeks 3 days, gestational age. Further sonographic assessment identified exomphalos and a distended urinary bladder. The postmortem examination done at 15 weeks 6 days gestation confirmed these defects, and further identified CDH and a DSD. This set of fetal anomalies does not fit the diagnostic criteria of known syndromes, sequences, complexes, or associations.