Background: Interstitial deletions of 14q in which band 14q31 is deleted are uncommon. Malformations such as atrial septal defect, horseshoe kidney, and cryptochidism have been reported.
Case: We evaluated sonographically the fetus of a 22-year-old woman between 16 and 20 weeks' gestation. This imaging showed marked dilation of the bladder with mild bilateral hydronephrosis and bilateral dilation of the lateral ventricles. In an amniotic fluid specimen obtained at 17 weeks, chromosomal analysis showed an interstitial deletion of chromosome 14 including band 14q31, designated 46,XY,del(14)(q24.3q32.1).
Conclusion: This first-reported fetal case of interstitial deletion in chromosome 14 including band 14q31 showed anomalies not seen in the reported postnatal cases. (Obstet Gynecol 1998;92:685-6. (C) 1998 by The American College of Obstetricians and Gynecologists.).