Turner syndrome: evaluation of prenatal diagnosis in 19 European registries.
作者： Neus Baena , C. De Vigan , E. Cariati , M. Clementi , C. Stoll
DOI: 10.1002/AJMG.A.30092
关键词: Obstetrics 、 Gestational age 、 Pregnancy 、 Prenatal diagnosis 、 Karyotype 、 Hydrops fetalis 、 Turner syndrome 、 Ultrasound 、 Medicine 、 Endocrinology 、 Internal medicine 、 Cystic hygroma
摘要: This study evaluated the prenatal diagnosis of Turner syndrome by ultrasound examination in an unselected population from all over Europe. Data 19 congenital malformation registries 11 European countries were analyzed. was diagnosed 125 cases (7.2%) a total 1,738 chromosome abnormalities. Sixty-seven percent detected prenatally due to presence defects. The most frequent anomalies cystic hygroma (59.5%) and hydrops fetalis (19%). karyotype 45,X (81.6%) followed different types mosaicism (16.8%). Significant differences defects (P = 0.0003) observed between karyotypes cases. Prenatal counseling for should take into account expectation milder phenotype. In 78.6% anomalies, pregnancy terminated. detection high this population.
core.ac.uk
sci-hub.se 参考文章(34)
E A Werder, A A Schinzel, I Lorda-Sanchez, W P Robinson, F Binkert, F Bernasconi, Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. American Journal of Human Genetics. ,vol. 56, pp. 444- 451 ,(1995)
F Benham, T Hassold, M Leppert, Cytogenetic and molecular analysis of sex-chromosome monosomy. American Journal of Human Genetics. ,vol. 42, pp. 534- 541 ,(1988)
E B Hook, Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use American Journal of Human Genetics. ,vol. 29, pp. 94- 97 ,(1977)
E B Hook, B B Topol, P K Cross, The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes. American Journal of Human Genetics. ,vol. 45, pp. 855- 861 ,(1989)
G.B. Azar, R.J.M. Snijders, C. Gosden, K.H. Nicolaides, Fetal nuchal cystic hygromata: associated malformations and chromosomal defects. Fetal Diagnosis and Therapy. ,vol. 6, pp. 46- 57 ,(1991) , 10.1159/000263624
Caroline Mansfield, Suellen Hopfer, Theresa M. Marteau, Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review Prenatal Diagnosis. ,vol. 19, pp. 808- 812 ,(1999) , 10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B
Michael B Ranke, Paul Saenger, Turner's syndrome The Lancet. ,vol. 358, pp. 309- 314 ,(2001) , 10.1016/S0140-6736(01)05487-3
Antonio Farina, Akihiko Sekizawa, Steven J. Ralston, Mary E. D'Alton, Diana W. Bianchi, Latent class analysis applied to patterns of fetal sonographic abnormalities: definition of phenotypes associated with aneuploidy. Prenatal Diagnosis. ,vol. 19, pp. 840- 845 ,(1999) , 10.1002/(SICI)1097-0223(199909)19:9<840::AID-PD654>3.0.CO;2-E
M. Holmes-Siedle, M. Ryynanen, R. H. Lindenbaum, Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality Prenatal Diagnosis. ,vol. 7, pp. 239- 244 ,(1987) , 10.1002/PD.1970070403
Koji Muroya, Gerhard Binder, Stefan Kirsch, Martina Winkelmann, Gabriele Nordsiek, Udo Heinrich, Martijn H. Breuning, Michael B. Ranke, André Rosenthal, Tsutomu Ogata, Gudrun A. Rappold, Ercole Rao, Birgit Weiss, Maki Fukami, Andreas Rump, Beate Niesler, Annelyse Mertz, Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome Nature Genetics. ,vol. 16, pp. 54- 63 ,(1997) , 10.1038/NG0597-54