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Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: An analysis of 117 cases with review of the literature
Author(s) -
Gag Sylvie,
Fraser William,
Fouquette Bertrand,
Bastide Adrien,
Bureau Marc,
Fontaine JeanYves,
Huot Céline
Publication year - 1992
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.1970120103
Subject(s) - aneuploidy , abnormality , chromosomal abnormality , fetus , amniotic fluid , obstetrics , chromosome abnormality , karyotype , chromosomal analysis , gestation , prenatal diagnosis , congenital malformations , chromosome , down syndrome , medicine , pregnancy , biology , genetics , psychiatry , gene
During a 7‐year period, 117 fetal karyotypes were available from 131 genetic amniocenteses. These procedures were performed between 14 and 37 weeks' gestation for the following abnormal ultrasound findings: (1) intrauterine growth retardation (IUGR)—61 cases; (2) fetal malformation—71 cases; and (3) amniotic fluid volume (AFV) abnormality—60 cases. Chromosomal abnormalities were identified in 19 cases (16.2 per cent). Aneuploidy was 2.5 times as frequent in the presence of malformations than in their absence. No correlation was demonstrated between specific fetal malformations and specific chromosomal abnormalities. Aneuploidy was also twice as frequent in the presence of symmetrical IUGR than in its absence. No chromosomal abnormalities were found among eight cases of asymmetrical IUGR. Four cases of aneuploidy presented with isolated IUGR, three of these involving the X chromosome. The frequency of aneuploidy was the same with or without abnormalities of AFV (14.3 versus 16.4 per cent). No chromosomal abnormality was found associated with isolated AFV abnormalities.