Human Reproduction, Vol 12, 1909-1912, Copyright © 1997 by Oxford University Press
HU Pauer, B Hinney, HW Michelmann, EW Krasemann, B Zoll and W Engel
Since the first reports of successful pregnancies after treatment with
intracytoplasmic sperm injection (ICSI) in humans numerous attempts have
been made to assess the genetic risks of this highly invasive technique.
During the study period (February 1995-November 96), 142 couples were
referred to our genetic counselling unit prior to ICSI. In three couples,
genetic counselling revealed a high recurrence risk for a monogenic disease
(myotonic dystrophy, hereditary ataxia and polycystic kidney disease). In
nine out of 128 men (7%) an abnormal karyotype was identified, including
three Robertsonian translocations, two reciprocal translocations, three sex
chromosome aberrations and one case with centric fission of chromosome no.
7. A total of 14 men refused chromosomal analysis. Only one of the 122
women examined had an abnormal karyotype (47, XXX). Five out of six men
with congenital bilateral absence of the vas deferens (CBAVD) had at least
one mutation in the cystic fibrosis transmembrane conductance regulator
(CFTR) gene. Three had mutations in both CFTR alleles, including one case
in which the second mutation was the 5T allele. One patient with CBAVD and
a single Delta F508 CFTR mutation also had left renal agenesis. In
conclusion, we strongly recommend that genetic counselling, chromosomal
analysis and, in the case of CBAVD, screening for CFTR mutations should be
offered to all couples with a diagnosis of male or idiopathic infertility.
ARTICLES
Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection
Department of Human Genetics, University of Gottingen, Germany.
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