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Genetic screening of 2061 infertile couples undergoing treatments for infertility

2004; Elsevier BV; Volume: 82; Linguagem: Inglês

10.1016/j.fertnstert.2004.07.770

1556-5653

Silvia Bianchi, Amalia Cesana, Paola Novara, Elena Albani, G. Morreale, Paolo Emanuele Levi-Setti,

Assisted Reproductive Technology and Twin Pregnancy

Research on genetic causes of male and female infertility rapidly expanded in the last years, following the development of in vitro fertilising techniques. The aim of this study is to asses the rate of chromosomal aberrations, cystic fibrosis transmembrane conductance regulator (CFTR) mutations and chromosome Y microdeletions in infertile couples prior to planned assisted reproduction treatments. Retrospective clinic and cytogenetic study. 2061 infertile couples were analysed. Karyotype analysis was performed in all patients using cytogenetic tests based on fluorescence in situ hybridization. Results were described according to the International System for Human Cytogenetic Nomenclature. CFTR gene alterations were investigated in 677 females and in men whose partner was positive for any mutation. CFTR gene was analyzed for the 29 most common mutations and the poly-T polymorphism in intron 8 (5T/7T/9T) by the reverse-hybridization technique, using the INNO-LIPA CF2 test. 633 males were tested for microdeletions detection on the Y chromosome. Microdeletions were detected by separate multiplex-polymerase chain reaction (PCR) reactions using primer pairs for 21 different single tagged sites (STSs) of all three azoospermia factor regions (AZFa, AZFb and AZFc). a11 were 47,XXY, 3 were 47,XYY and 1 had a mosaicism (47,XXY/46,XY)b1 was 45,X, 18 were 45,X/46,XX, 3 were 47,XXX/46,XX c7,XX+18/46,XXd17 had at least one heterozygosis mutation, 8 presented polyT polymorphism, 1 had both of them 1Jacobs PA et al., Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet (1992) 29:103–1082Nielsen J and Wohlert M, Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Human Genetics (1991) 87:81–833Lenzi A et al., ICSI E PATOLOGIA GENETICA, pp.57–65, Sterilità maschile: trattamento con la intracytoplasmic sperm injection, 1996 We have shown that a significant number of genetic aberrations is present in infertile couples, according with the frequency of alterations reported by other laboratories. As a consequence a genetic counselling, that should also include AZF and CFTR genotyping, is recommended before assisted reproductive treatments, as parental factors can be transferred to offspring that would most likely not have been conceived by natural means.