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Cytogenetic analysis of first trimester chorionic villi samplings

Nadyr F. Naccache^I; Thomaz R. Gollop^II; Eloisa A. Auler-Bittencourt^I; Angela M. Vianna-Morgante^I; Alberto Eigier^II

^IDepartamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11461, 05499 São Paulo, SP, Brasil. Send correspondence to N.F.N.
^IIServiço de Genética Humana, Associação Maternidade de São Paulo, Rua Tabapuã, 649, 4 ⁰., cj. 44, 04533 São Paulo, SP, Brasil

ABSTRACT

The fetal karyotype was determined in 65 chorionic villi samples obtained between the 8th and the 12th weeks of gestation. Maternal age was the major indication in 40 pregnancies, and in this group 4 chromosomal abnormalities were detected: 47,XX,+21; 45,X/47,XYY; 92,XXXX and 47,XX,+mar. In 8 cases, there had been a previous child with a chromosomal defect; a triploid fetus was diagnosed among them. Five exams were performed because of a previous malformed child whose chromosomal constitution was unknown (2), and for psychological reasons (3); all revealed normal karyotypes. Five parents were carriers of balanced translocations, and one unbalanced karyotype was detected. Sex determination was the primary indication in 7 pregnancies at risk for X-linked recessive diseases; three male fetuses were diagnosed.
Cultures of placental and fetal tissues were initiated after the termination of pregnancy in the triploid and tetraploid cases; the prenatally determined karyotypes were confirmed. In the case of the 47,XX,+mar karyotype, chromosome analyses after amniocentesis did not confirm the abnormality.

Keywords: cytogenetic; chorionic; villi.

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