First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis

Prenatal Diagnosis

Volumn 29, Issue 11, 2009, Pages 1071-1074

  Ami, O ^a,b,c   Picone, O ^a,b,c   Garcon L ^c,d   Castel, C ^b   Guitton, C ^b   Delaunay, J ^c,d   Frydman, R ^a,b,c   Senat, M V ^a,b  

^a INSERM   (France)

^b HÔPITAL ANTOINE BÉCLÈRE   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d BICÊTRE HOSPITAL   (France)

Author keywords

Cystic hygroma; Fetal ultrasound; Nuchal translucency; Stomatocytosis

Indexed keywords

HEMOGLOBIN;

ADULT; AMNIOCENTESIS; ANEMIA; ARTICLE; ASCITES; BLOOD SAMPLING; BREECH PRESENTATION; CASE REPORT; CESAREAN SECTION; CHOLESTASIS; CHORION VILLUS SAMPLING; CYSTIC LYMPHANGIOMA; CYTOLYTIC HEPATITIS; DEHYDRATED HEREDITARY STOMATOCYTOSIS; DEHYDRATION; DYSTOCIA; FEMALE; FETUS HYDROPS; FIRST TRIMESTER PREGNANCY; FLOW RATE; FOLLOW UP; GENERALIZED EDEMA; GESTATIONAL AGE; HUMAN; HYDRAMNIOS; HYPERFERRITINEMIA; JAUNDICE; KARYOTYPE 46,XY; KIDNEY FAILURE; LABOR INDUCTION; MEAN CORPUSCULAR VOLUME; NEWBORN; NUCHAL TRANSLUCENCY MEASUREMENT; PARITY; PREMATURE FETUS MEMBRANE RUPTURE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PULMONARY HYPERTENSION; STOMATOCYTOSIS; SURGICAL DRAINAGE; VAGINAL DELIVERY;

ADULT; ANEMIA, HEMOLYTIC, CONGENITAL; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY COMPLICATIONS; PREGNANCY TRIMESTER, FIRST;

EID: 70350449286     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2342     Document Type: Article

References (11)

1. Basu AP, Carey P, Cynober T, et al. 2003. Dehydrated hereditary stomatocytosis with transient perinatal ascites. Arch Dis Child Fetal Neonatal Ed 88: F438-F439. (Pubitemid 37094270)
2. Carella M, Stewart G, Ajetunmobi JF, et al. 1998. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). Am J Hum Genet 63: 810-816. (Pubitemid 30422681)
3. Entezami M, Becker R, Menssen HD, Marcinkowski M, Versmold HT. 1996. Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach. Blood 87: 5392-5393. (Pubitemid 26189886)
4. Grootenboer S, Barro C, Cynober T, et al. 2001. Dehydrated hereditary stomatocytosis: a cause of prenatal ascites. Prenat Diagn 21: 1114-1118. (Pubitemid 34118191)
5. Grootenboer-Mignot S, Crétien A, Laurendeau I, et al. 2003. Sublethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies. Prenat Diagn 23: 380-384. (Pubitemid 36596966)
6. Grootenboer S, Schischmanoff PO, Laurendeau I, et al. 1998. A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema. Br J Haematol 103: 383-386. (Pubitemid 28522443)
7. Grootenboer S, Schischmanoff PO, Laurendeau I, et al. 2000 Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24.. Blood 96: 2599-2605. (Pubitemid 30745287)
8. Picone O, Benachi A, Mandelbrot L, Ruano R, Dumez Y, Dommergues M. 2004. Thoracoamniotic shunting for fetal pleural effusions with hydrops. Am J Obstet Gynecol 191: 2047-2050. (Pubitemid 39601512)
9. Sánchez M, Palacio M, Borrell A, et al. 2005. Prenatal diagnosis and management of fetal xerocytosis associated with ascites. Fetal Diagn Ther 20: 402-405. (Pubitemid 41197064)
10. Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH. 2005. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 192: 1005-1021. (Pubitemid 40487772)
11. Vicente-Gutiérrez MP, Castelló-Almazán I, Salvía-Roiges MD, et al. 2005. Nonimmune hydrops fetalis due to congenital xerocytosis. J Perinatol 25: 63-65. (Pubitemid 40207658)