Genetic screening in Italian infertile couples undergoing intrauterine insemination andin vitrofertilization techniques: a multicentric study

Abstract

Aim of the study. To report the frequency of aberrant karyotype and mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene, according to a careful application of Italian guidelines for genetic screening in infertile couple candidates for intrauterine insemination (IUI) and in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI). Materials and methods. Two thousand and sixteen consecutive infertile couple candidates for Assisted Reproduction Techniques (ART) were screened for karyotype and 616 couples for CFTR analysis. Results. Regarding karyotype analysis, 59 chromosomal abnormalities were diagnosed in candidates for IVF/ICSI: 27 mutations in women corresponding to a frequency equal to 1.53% (27/1762; 95% confidence interval [CI], 0.96-2.1%) and 32 mutations in men corresponding to a frequency equal to 1.82% (32/1762; 95% CI, 1.2-2.44%) for men. The frequency differs according to the sperm count. In couple candidates for IUI techniques, no genetic abnormalities were found in male patients and only one aberration in a female patient with a frequency of 0.41% (1/245 CI 0.01-0.81%). Regarding CFTR analysis, excluding the 5T variant, we obtained 20 mutations in couples undergoing IVF/ICSI and 8 mutations in IUI group. Conclusion. Couples undergoing IVF/ICSI show a higher prevalence of aberrant karyotypes than general population, whereas the frequency of a mutation of the CFTR gene is similar. On the other hand, couples undergoing IUI do not differ from the general population either for karyotype or for CFTR mutations.

Follicle‑stimulating hormone receptor gene polymorphisms of ovarian reserve markers in Romanian population

“…This topic becomes important in clinical research because specific genotype patterns of the FSH receptor, estrogen receptors ESR1 and ESR2 have been found as possible causes involved in the poor response to exogenous FSH in in vitro fertilization (IVF) protocols ( 2 ).…”

Fetal chromosomal anomalies in southeast Serbia - single center cohort retrospective study

“…Their prevalence in the general population is not high (0.6%) but in high-risk groups, they occur more often and require timely identification. A study of 3000 amniocenteses revealed a prevalence of chromosomal aberrations of 0.94% (ARTINI et al, 2011). High-risk populations include women >35 years of age, women <20 years, men >50 years, the existence of chromosomal aberrations in the family history and a previous child born with aberration (STOJANOV et al, 2006).…”