Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection

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 o...

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Bibliographic Details
Published in:Human reproduction (Oxford) 1997-09, Vol.12 (9), p.1909-1912
Main Authors: Pauer, H U, Hinney, B, Michelmann, H W, Krasemann, E W, Zoll, B, Engel, W
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Birth control
Chromosome Aberrations
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Cytoplasm
Female
Fertilization in Vitro - methods
Genetic Counseling
Gynecology. Andrology. Obstetrics
Humans
Infertility, Male - genetics
Karyotyping
Male
Medical sciences
Microinjections
Mutation
Pedigree
Pregnancy
Risk Factors
Sperm Count
Sterility. Assisted procreation
Vas Deferens - abnormalities
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Summary: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.
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/12.9.1909