Balkan Journal of Medical Genetics

PREVALENCE OF CHROMOSOMAL ABNORMALITIES IN INFERTILE COUPLES IN ROMANIA
Mierla D1,*, Malageanu M1, Tulin R1,2, Albu D1,2
*Corresponding Author: Dana Mierla, PhD, Department of Genetics, Life Memorial Hospital, Grivita Street, Bucharest, Romania. Tel: +40-72-147-9083. E-mail: dana_mierla@yahoo.com
page: 23

INTRODUCTION

Infertility is defined as the incapacity to conceive naturally after 1 year of regular unprotected sexual intercourse [1]. Infertility has become one of the most common medical problems, now affecting a large number of couples. The epidemiological data show that about 15.0% of the population are unable to conceive during the first year [2]. Most couples with infertility problems will conceive spontaneously or will be responsive to treatment, so that only 5.0% will remain incapable of conception [3]. In general, it is estimated that one in seven couples have conception problems, with a similar incidence in most countries, independent of their level of economical development [2]. The many factors that affect male and female infertility are: genetic, endocrine, environmental, lifestyle, infections. Chromosomal abnormalities, one of the most frequent causes of genetic diseases, can be defined as a microscopic alteration of the chromosomes and may lead to reproductive failure in adults [4], to the occurrence of miscarriages and even to the death of the fetus. The frequency of chromosomal abnormalities is relatively high, major chromosomal abnormalities, including chromosomal polymorphisms, have been found in 1.3-15.0% of couples failing to conceive [5- 11]. The most frequent chromosomal abnormalities are balanced chromosomal rearrangements (translocations), sex chromosomal mosaicism and inversions. Reciprocal translocations are one of the most common structural rearrangements observed in humans [11]. The individuals who carry this balanced translocation are clinically normal, but they do have an increased risk for having children with unbalanced karyotypes. Carriers of Robertsonian translocations are also at risk for miscarriages and for offspring with mental retardation and birth defects associated with aneuploidy. Chromosomal abnormalities and genetic defects can determine failure of reproduction, and for this reason genetic analysis can play an important role in an infertility investigation. The incidence of autosomal chromosomal abnormalities in male infertility is 1.1-7.2% [12-15], and the incidence of chromosomal anomalies in women is 10.0% [16]. In our study, the incidence of chromosomal abnormalities was 2.52% in infertile men and 2.49% in infertile women.

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