FETAL FACIAL DEFECTS - ASSOCIATED MALFORMATIONS AND CHROMOSOMAL-ABNORMALITIES

被引：87

作者：

NICOLAIDES, KH

SALVESEN, DR

SNIJDERS, RJM

GOSDEN, CM

机构：

[1] Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King’s College Hospital Medical School, London, Denmark Hill

[2] MRC Human Genetics Unit, Western General Hospital, Edinburgh

来源：

FETAL DIAGNOSIS AND THERAPY | 1993年 / 8卷 / 01期

关键词：

FACIAL DEFECTS; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY; CORDOCENTESIS; FETAL KARYOTYPING;

D O I：

10.1159/000263740

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia. in 10 of 13 (77%) with macroglossia, in 31 of 64 (48%) with cleft lip and palate, in 5 of 11 (45%) with severe hypotelorism or cyclops, and in 6 of 19 (32%) with nasal hypoplasia, proboscis or single nostril. Macroglossia was mainly associated with trisomy 21, micrognathia with trisomy 18 and triploidy, facial cleft with trisomies 13 and 18, and ocular or nasal defects with trisomy 13. In all chromosomally abnormal fetuses with facial defects, there were additional multisystem defects, and the pattern of these malformations was compatible with the type of the underlying chromosomal abnormality. In the total series of 2,086 fetuses with malformations and/or growth retardation, there were 31 with trisomy 13, 83 with trisomy 18 and 69 with trisomy 21 facial defects were found in 71. 36 and 14% of these fetuses, respectively.

引用

页码：1 / 9

页数：9

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