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Chorionic villus sampling (CVS) was performed in 12 pregnant women (9–25 gestational weeks) with ultrasonographic evidence of missed abortion. An ultrasonographically guided transabdominal (eight cases) or transcervical (four cases) approach was used. Fetal karyo-typing was successful in all cases; in five, chromosomal aberrations were found and in seven, chromosome analyses revealed normal karyotypes. Tissue culture for fetal karyotyping was successful in only 72.5 per cent of 40 live pregnancies which were electively interrupted because of abnormal ultrasonographic findings or an abnormal fetal karyotype, and in 57 per cent of seven missed abortions. CVS is suggested as a feasible and effective method for fetal karyotyping in missed abortions and it seems to be superior to post-abortion tissue culture.  相似文献   

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In order to obtain a large set of normal control values, the activities of three cytosolic enzymes of purine metabolism and seven lysosomal enzymes were determined in homogenates of chorionic villi derived from induced abortions of normal pregnancies (7th–12th week) in about 100 individual cases. Possible reasons for the rather wide ranges of normal distributions of enzyme activities are discussed. The values are compared: (1) with available data in the literature; (2) with activities determined in decidual homogenates prepared from the same samples; (3) with activities of cells of cultures established and grown from villi in the same samples; and (4) with enzyme activities measured in chorionic biopsies using the same methods. Implications for the prenatal diagnosis of the associated metabolic diseases are considered.  相似文献   

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