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Fetal blood sampling and cytogenetic abnormalities
Author(s) -
Liou JuiDer,
Chen ChihPing,
Breg W. Roy,
Hobbins John C.,
Mahoney Maurice J.,
YangFeng Teresa L.
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970130102
Subject(s) - prenatal diagnosis , fetus , chromosome abnormality , obstetrics , chorionic villus sampling , medicine , chromosomal abnormality , gestational age , blood sampling , abnormality , sampling (signal processing) , aneuploidy , chromosomal analysis , gynecology , cytogenetics , pregnancy , chromosome , karyotype , biology , genetics , computer vision , filter (signal processing) , psychiatry , gene , computer science
Abstract From September 1984 to April 1991, we performed cytogenetic analysis on fetal blood samples from 214 second‐and third‐trimester pregnancies. One hundred and thirty‐four cases were referred to consider the possibility of chromosomal mosaicism following amniocyte studies. The confirmation rate of mosaicism is at 0 per cent (0/9), 1·4 per cent (1/70), and 40 per cent (22/55) for cases of level I, level II, and level III mosaicism, respectively. Four out of 17 cases were positive for the diagnosis of fragile X syndrome. Of 63 cases with abnormal ultrasound findings, blood disorders, or other genetically related clinical conditions, 11 were found to have a chromosome abnormality. Fetal blood sampling is a valuable adjunct to other methods in the prenatal diagnosis of chromosomal mosaicism or pseudomosaicism. It is also useful when rapid cytogenetic diagnosis is desired because of malformations detected in pregnancies at a late gestational age.