4952例产前诊断的细胞遗传学结果。一项意大利合作研究。

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study.

作者信息

Simoni G, Fraccaro M, Arslanian A, Bacchetta M, Baccichetti C, Bignone F A, Cagiano A, Carbonara A O, Carozzi F, Cuoco C, Bricarelli F D, Dallapiccola B, Dalprà L, Carbone L D, Ferranti G, Filippi G, Frateschi M, Gimelli G, Gualtieri R M, Lenzini E, Micara G, Migone N, Montacuti V, Neri G, Papa R, Pecile V, Rocchi M, Savin E, Serra A, Tenconi R, Terzoli G L, Tibiletti M G

出版信息

Hum Genet. 1982;60(1):63-8. doi: 10.1007/BF00281266.

DOI:10.1007/BF00281266

PMID:7076250

Abstract

The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diagnoses performed from 1972 to 1980. The main indication groups were: advanced maternal age (2882 cases), previous child with chromosome anomaly from parents with normal karyotype (847 cases), and chromosome anomaly in one parent (97 cases). The other indications for amniocentesis, including cases without a cytogenetic risk, have been assembled into a "miscellaneous" group (1126 cases). We found 125 abnormal fetal karyotypes (2.5%) of which 89 were unbalanced (1.8%). The frequencies and types of chromosome anomalies are reported in detail for each indication group and are compared with the corresponding one from the European Munich Conference. The great majority of these Italian data were not included in the Munich report.

摘要

意大利旧堕胎法的限制给产前诊断的发展带来了困难，直到近年来才有相当数量的病例得到调查。我们报告了参与一项协作研究的十个意大利中心在1972年至1980年间进行的4952例产前染色体诊断的经验。主要指征组为：高龄产妇（2882例）、核型正常的父母生育过染色体异常患儿（847例）以及一方父母有染色体异常（97例）。羊膜穿刺术的其他指征，包括无细胞遗传学风险的病例，被归为“其他”组（1126例）。我们发现125例胎儿核型异常（2.5%），其中89例为不平衡型（1.8%）。详细报告了每个指征组染色体异常的频率和类型，并与欧洲慕尼黑会议的相应数据进行了比较。这些意大利数据中的绝大多数未纳入慕尼黑报告。