Second-Trimester Detection of Mowat-Wilson Syndrome Using Comparative Genomic Hybridization Microarray Testing

被引:14
作者
Choy, Kwong Wai
To, Ka Fai
Chan, Anthony Wing Hung
Lau, Tze Kin
Leung, Tak Yeung [1 ]
机构
[1] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Obstet & Gynecol, Fetal Med Unit, Shatin, Hong Kong, Peoples R China
关键词
NUCHAL TRANSLUCENCY; ARRAY CGH;
D O I
10.1097/AOG.0b013e3181c9c8f8
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
BACKGROUND: Fetuses with increased nuchal translucency but apparently normal karyotypes may have small genetic defects that are undetectable by conventional cytogenetic studies. Microarray comparative genomic hybridization (array comparative genomic hybridization) may help prenatal diagnosis by revealing small genetic defects. CASE: A patient presented with a fetus with large nuchal translucency and ambiguous genitalia at 13 weeks of gestation. Conventional fetal karyotype by chorionic villus sampling was 46,XY,inv (1)(p31 q42). The inversion was de novo. Further analysis by array comparative genomic hybridization revealed a single-copy ZEB2 gene deletion at 2q22.3 consistent with Mowat-Wilson syndrome. Ultrasonography at 17 weeks revealed a reduced nuchal fold of 5 mm. The patient decided to terminate the pregnancy, which was completed uneventfully at 17 weeks of gestation. CONCLUSION: Array comparative genomic hybridization is a useful complementary diagnostic tool in fetuses with increased nuchal translucency but apparently normal karyotypes. (Obstet Gynecol 2010,115:462-5)
引用
收藏
页码:462 / 465
页数:4
相关论文
共 9 条
[1]   Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease [J].
Cacheux, V ;
Dastot-Le Moal, F ;
Kääriäinen, H ;
Bondurand, N ;
Rintala, R ;
Boissier, B ;
Wilson, M ;
Mowat, D ;
Goossens, M .
HUMAN MOLECULAR GENETICS, 2001, 10 (14) :1503-1510
[2]   Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 → qter) and partial monosomy 6q(6q26 → qter) by high-resolution array CGH [J].
Choy, Kwong Wai ;
Chan, Lin Wai ;
Tang, Mary H. Y. ;
Ng, Lucy K. L. ;
Leung, Tak Yeung ;
Lau, Tze Kin .
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2009, 22 (11) :1014-1020
[3]   Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies [J].
Edelmann, Lisa ;
Hirschhorn, Kurt .
YEAR IN HUMAN AND MEDICAL GENETICS 2009, 2009, 1151 :157-166
[4]   Mowat-Wilson syndrome:: an underdiagnosed syndrome? [J].
Engenheiro, E. ;
Moller, R. S. ;
Pinto, M. ;
Soares, G. ;
Nikanorova, M. ;
Carreira, I. M. ;
Ullmann, R. ;
Tommerup, N. ;
Tumer, Z. .
CLINICAL GENETICS, 2008, 73 (06) :579-584
[5]   Mowat-Wilson Syndrome: Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the Literature [J].
Garavelli, L. ;
Zollino, M. ;
Mainardi, P. Cerruti ;
Gurrieri, F. ;
Rivieri, F. ;
Soli, F. ;
Verri, R. ;
Albertini, E. ;
Favaron, E. ;
Zignani, M. ;
Orteschi, D. ;
Bianchi, P. ;
Faravelli, F. ;
Forzano, F. ;
Seri, M. ;
Wischmeijer, A. ;
Turchetti, D. ;
Pompilii, E. ;
Gnoli, M. ;
Cocchi, G. ;
Mazzanti, L. ;
Bergamaschi, R. ;
De Brasi, D. ;
Sperandeo, M. P. ;
Mari, F. ;
Uliana, V. ;
Mostardini, R. ;
Cecconi, M. ;
Grasso, M. ;
Sassi, S. ;
Sebastio, G. ;
Renieri, A. ;
Silengo, M. ;
Bernasconi, S. ;
Wakamatsu, N. ;
Neri, G. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (03) :417-426
[6]   De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency [J].
Law, L. W. ;
Lau, T. K. ;
Fung, T. Y. ;
Leung, T. Y. ;
Wang, C. C. ;
Choy, K. W. .
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2009, 116 (02) :339-343
[7]   Pregnancy outcome of euploid fetuses with increased nuchal translucency: how bad is the news? [J].
Maymon, R ;
Weinraub, Z ;
Herman, A .
JOURNAL OF PERINATAL MEDICINE, 2005, 33 (03) :191-198
[8]   Disappearance of enlarged nuchal translucency before 14 weeks' gestation:: relationship with chromosomal abnormalities and pregnancy outcome [J].
Müller, MA ;
Pajkrt, E ;
Bleker, OP ;
Bonsel, GJ ;
Bilardo, CM .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2004, 24 (02) :169-174
[9]   Long-term outcome of children born after a first-trimester measurement of nuchal translucency at 99th percentile or greater with normal karyotype:: A prospective study [J].
Senat, Marie-Victoire ;
Bussieres, Laurence ;
Couderc, Sophie ;
Roume, Joelle ;
Rozenberg, Patrick ;
Bouyer, Jean ;
Ville, Yves .
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2007, 196 (01) :53-54