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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Simoni G,Fraccaro M,Arslanian A,Bacchetta M,Baccichetti C,Bignone FA,Cagiano A,Carbonara AO,Carozzi F,Cuoco C,Bricarelli FD,Dallapiccola B,Dalprà L,Carbone LD,Ferranti G,Filippi G,Frateschi M,Gimelli G,Gualtieri RM,doi
10.1007/BF00281266subject
Has Abstractpub_date
1982-01-01 00:00:00pages
63-8issue
1eissn
0340-6717issn
1432-1203journal_volume
60pub_type
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