VACTERL-H syndrome: first trimester diagnosis İlk trimester tanisi konan VACTERL-H Sendromu

Address for Correspondence: Banu Dane, Emlak Bankasi Konutlari, B1 Blok, Daire: 12, Fatih, Istanbul, Turkey Phone: +90 212 621 75 21 e.mail: banudane@yahoo.com ©Copyright 2011 by the Turkish-German Gynecological Education and Research Foundation Available online at www.jtgga.org doi:10.5152/jtgga.2011.62 We present two consecutive female fetuses with identical upper limb anomalies. The first of the cases was found to have ventriculomegaly, atrial septal defect, anal atresia, narrowing of the duodenal lumen and unilateral renal agenesis at the end of the second trimester. These abnormalities were characteristic of autosomal recessive VACTERL-H syndrome. The second case was diagnosed to have absent radii and thumbs at 11 weeks. Detailed examination of fetal limbs in the first trimester screening in cases with high risk is useful for early detection of this malformation. (J Turkish-German Gynecol Assoc 2011; 12: 266-9)