Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques

• Published in: Human reproduction (Oxford) Vol. 20; no. 2; pp. 437 - 442
• Main Authors: Clementini, E., Palka, C., Iezzi, I., Stuppia, L., Guanciali-Franchi, P., Tiboni, G.M.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.02.2005; Oxford Publishing Limited (England)
• Subjects: Adult; Aged; assisted reproduction techniques; Biological and medical sciences; Birth control; chromosomal aberration; Chromosome Aberrations - statistics & numerical data; Cohort Studies; Female; Gynecology. Andrology. Obstetrics; Humans; infertility; Infertility, Female - epidemiology; Infertility, Female - genetics; Infertility, Male - epidemiology; Infertility, Male - genetics; Karyotyping; Male; Medical sciences; Middle Aged; Pregnancy; Pregnancy Outcome - epidemiology; Prevalence; Risk Factors; Sterility. Assisted procreation; Yq11 microdeletion; Yq11 microdeletion; chromosomal aberration; infertility; assisted reproduction techniques; Chromosomal aberration; Human; Prevalence; Assisted procreation; Conjugal sterility; Technique; assisted reproduction techniques/chromosomal aberration/infertility/Yql microdeletion; Epidemiology
• ISSN: 0268-1161; 1460-2350
• DOI: 10.1093/humrep/deh626

BACKGROUND: This study analyses the prevalence of karyotype changes and Yq11 microdeletions among couples referred for assisted reproduction techniques. METHODS: Prior to receiving either IVF or ICSI treatment, each partner of 2078 infertile couples was screened for karyotype changes by GTG-banding technique on peripheral lymphocytes. No subject presented with obvious phenotype of chromosomal rearrangement. All the oligo/azoospermic men with normal karyotype were further investigated by PCR for Yq11 microdeletions. RESULTS: Eighty-two out of 2078 couples (3.95%) had one partner carrying a chromosomal change, and 10 out of 202 (4.95%) men showed Yq11 microdeletions. The chromosomal rearrangements were 44 (2.1%) translocations, 23 (1.1%) gonosomal mosaics, six (0.3%) 47,XXY, five (0.24%) marker chromosomes, three (0.14%) inversions and one (0.05%) duplication. Frequency of anomalies in men and women were similar: 42 and 40 cases respectively. CONCLUSIONS: Partners of infertile couples requiring IVF or ICSI treatment appear to be affected by higher frequency of chromosomal rearrangements than the general population. Categories with greater risk were represented by men with sperm cell count <20 × 106 sperm/ml, and women with history of pregnancy loss.