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First-trimester diagnosis on chorionic villi obtained by direct vision technique

✍ Scribed by Björn Gustavii; M. Alan Chester; Heléne Edvall; Serafim Iosif; Ulf Kristoffersson; Lars Löfberg; Anita Mineur; Felix Mitelman


Publisher
Springer
Year
1984
Tongue
English
Weight
414 KB
Volume
65
Category
Article
ISSN
0340-6717

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✦ Synopsis


An improved technique for direct vision chorionic biopsy that gives a clear view of the amniotic sac was developed. With this technique, used in 48 women prior to vacuum aspiration and in six cases for diagnosis (karyotyping or enzyme analysis), it was possible to obtain chorionic villi free from contamination by maternal tissue. It was also possible to pick out villi (rich in blood vessels and with abundant buds on their surface) found to be most capable of growing in vitro. In the diagnostic cases, the pregnancies have continued uneventfully since the sampling; one pregnancy is now in the 32nd week.


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Pyruvate carboxylase (PC) deficiency is a rare metabolic disorder in infants and children, most frequently with fatal outcome. Its prenatal diagnosis by radiometric assay in cultured amniocytes has previously been reported. We present and discuss the prenatal diagnosis of PC deficiency by direct mea