Human Reproduction, Vol 13, 576-582, Copyright © 1998 by Oxford University Press
D Meschede, B Lemcke, JR Exeler, C De Geyter, HM Behre, E Nieschlag and J Horst
Chromosomal abnormalities are thought to be a major contributor to the
genetic risks of infertility treatment by intracytoplasmic sperm injection
(ICSI). Apart from abnormalities arising de novo, abnormal karyotypes in
pregnancies conceived through assisted reproductive technology may be
directly derived from predisposing parental aberrations. In a prospective
study we have analysed the chromosomes of 868 male and female patients
prior to planned ICSI treatment. A total of 33 aberrant karyotypes was
diagnosed, corresponding to an abnormality rate of 7.6% per couple or 3.8%
per individual studied. Even though male factor infertility was twice as
common as female factor infertility in this cohort, 24 of the chromosomal
abnormalities were found among the women. Low-level mosaicism for numerical
sex chromosome anomalies was diagnosed in 20 individuals, and one patient
had the triple X karyotype. With respect to structural chromosomal
anomalies, we found six reciprocal and three Robertsonian translocations,
two paracentric inversions and one marker chromosome. Many of the
aberrations that we diagnosed could be classified as carrying only a small
to moderate reproductive risk. Given the high rate of abnormal karyotypes
among the female subjects, we suggest that not only the males, but both
partners should be routinely karyotyped prior to ICSI.
ARTICLES
Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection--prevalence, types, sex distribution and reproductive relevance
Institute of Human Genetics, Munster, Germany.
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