PRENATAL DIAGNOSIS Prenat Diagn 2009; 29: 1071–1074. Published online 4 August 2009 in Wiley InterScience (www.interscience.wiley.com) DOI: 10.1002/pd.2342 RESEARCH LETTER First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis O. Ami 1,2,3 , O. Picone 1,2,3 *, L. Gar¸ con 4 , C. Castel 2 , C. Guitton 2 , J. Delaunay 4 , R. Frydman 1,2,3 and M. V. Senat 2,5 1 INSERM, U 782, Clamart, F-92140, France 2 AP-HP, Service de Gyn´ ecologie-Obst´ etrique, Hˆ opital Antoine B´ ecl` ere, Clamart, F-92140, France 3 Univ Paris Sud, UMR-S0782, Clamart, F-92140, France 4 H´ ematologie, Hˆ opital Kremlin-Bicˆ etre, APHP; Facult´ e de M´ edecine Paris-Sud, Univ Paris-Sud and INSERM U 779, Le Kremlin-Bicˆ etre, F-94275, France 5 Service d’Epid´ emiologie, D´ emographie et Sciences Sociales, INSERM U822, Le Kremlin-Bicˆ etre, F-94276, France KEY WORDS: stomatocytosis; nuchal translucency; cystic hygroma; fetal ultrasound Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia with autosomal dominant mode of transmission (OMIM #194 380). The diagnosis rests upon documentation of high osmotic resistance and erythrocyte dehydration at ectacytometric studies of the red blood cells. We describe three affected fetuses which manifested first-trimester nuchal abnormalities. Medical data were anonymously stored and protected according to CNIL’s recommendations (Commission Nationale Informatique et Libert´ e, authorization numbers 1 181 076 and 444 971). FAMILY 1 A 29-year-old woman, gravida 1 para 0, with DHSt, diagnosed during investigation for hyperferritinemia in adulthood, was referred to our prenatal diagnostic cen- ter at 13.5 weeks of gestation because of an 8 mm nuchal translucency with cystic hygromas diagnosed during the first-trimester ultrasound. There was no other known case of DHS in the family. Chorionic villus sampling revealed a normal karyotype (46,XY). Serial ultrasound scans (every 2 weeks in the first and the sec- ond trimesters, and every week in the third) documented severe generalized edema, ascites and persistent cystic hygroma that continued to increase until term (Figure 1). The abdominal perimeter measured consistently above the 95th percentile; associated structural abnormalities were ruled out. Because the values for peak systolic flow velocity in the middle cerebral artery remained in the normal range throughout the pregnancy, fetal blood sampling was not attempted to rule out fetal anemia. At 32 weeks, 400 mL of transparent fluid was drained *Correspondence to: O. Picone, Service de Gyn´ ecologie- Obst´ etrique, Hˆ opital Antoine B´ ecl` ere, 157 rue de la Porte de Trivaux, 92140 Clamart, France. E-mail: Olivier.picone@abc.aphp.fr from the hygroma and 300 mL from the ascites. The karyotype was confirmed as normal. Tests for storage diseases, digestive enzymes and infections were nega- tive. After drainage of the hygroma (700 mL) to prevent fetal dystocia during delivery, a cesarean section was nonetheless performed at 37 weeks because of prema- ture rupture of the membranes and a breech presen- tation. The newborn, a 3450-g boy (90th percentile), had generalized edema, renal insufficiency, right ven- tricular dysfunction due to pulmonary artery hyperten- sion, cholestasis and cytolytic hepatitis. His hemoglobin level was 13.8 g/dL, with a mean corpuscular volume around 110 fL. The ektacytometric curve was markedly left-shifted, as typically found in DHS (Figure 2). Gen- eralized edema persisted after birth, associated with marked jaundice and pseudohyperkalemia. The baby died 15 days after birth. The parents refused an autopsy. FAMILY 2 This 27-year-old woman, gravida 1 para 0, was referred at 18 weeks to our prenatal diagnosis center with a diagnosis of fetal hydrops. The first-trimester ultrasound examination noted nuchal translucency of 5 mm, but chorionic villus sampling was not performed because of recent vaginal bleeding. The parents consented to amnio- centesis, which found a normal karyotype (46,XX). Tests for storage diseases and infections were negative. The father reported that at birth, he had had the full-fledged pleiotropic syndrome of DHS, with pseudohyperkalemia and perinatal fluid effusions. At the time of this study, he had only mild jaundice, was otherwise in very good health and had a normal work life. His mother also had the complete pleiotropic syndrome. Values for peak flow velocity of the middle cerebral artery remained in the normal range throughout the pregnancy. Serial ultra- sound follow-up scans were performed. The hydrops began decreasing at 25 weeks and continued to decrease Copyright  2009 John Wiley & Sons, Ltd. Received: 15 March 2009 Revised: 26 June 2009 Accepted: 26 June 2009 Published online: 4 August 2009