Chromosomal mosaicism of extraembryonic cells detected by prenatal diagnosis

Journal Article · Fri Sep 01 04:00:00 EDT 1995 · Russian Journal of Genetics

OSTI ID:160175

Zolotukhina, T V; Shilova, N V ^[1]

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1. Institute of Clinical Genetics, Moscow (Russian Federation)

Data on detection of chromosomal mosaicism in amniotic cells and chorionic villi obtained by prenatal cytogenetic diagnosis are presented. The frequency of chromosomal mosaicism in preparations of amniotic fluid cell culture was 2.6% (6 out of 226), and that in {open_quotes}direct{close_quotes} villus preparations was 1.6% (13 out of 774). The necessity to perform an additional analysis of other fetal cells or neonatal lymphocytes to specify the diagnosis was shown. The analysis of the outcome of pregnancies during which chromosomal mosaicism in the extraembryonic cells was detected indicates that these women form a high-risk group, both genetically and obstetrically; in only 8 out of 19 cases did pregnancies end in normal deliveries at term; in three cases, spontaneous abortions occurred at 16-31 weeks of gestation; in three cases, the pregnancies were terminated due to fetal chromosomal aberrations in nonmosaic form; the outcome of pregnancy in five cases was preterm delivery of an underweight newborn. 26 refs., 1 tab.

• OSTI ID: 160175
• Journal Information: Russian Journal of Genetics, Journal Name: Russian Journal of Genetics Journal Issue: 9 Vol. 31; ISSN 1022-7954; ISSN RJGEEQ
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ABORTION
CHROMOSOMAL ABERRATIONS
DETECTION
DIAGNOSIS
EMBRYONIC CELLS
ERRORS
FETUSES
HUMAN CHROMOSOMES
KARYOTYPE
MOSAICISM