Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

Abstract

Background Much interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in recent times. This review was conducted to renew public interest on the chromosomal basis of infertility, testing, and management. Main text Meiotic and post-zygotic mitotic errors may cause infertility-predisposing chromosomal abnormalities, including Klinefelter syndrome, Jacob syndrome, Triple X syndrome, Turner syndrome, and Down syndrome. Chromosomal abnormalities such as deletion, translocation, duplication, inversion, and ring chromosome may also predispose to infertility. Notable features of male chromosomal infertility include spermatogenic failure, characterized by azoospermia, oligospermia, and gonadal dysgenesis, while females include premature ovarian insufficiency, amenorrhea, spontaneous abortion, and gonadal dysgenesis. The risk of these abnormalities is influenced by maternal age and environmental factors such as chemical exposure, smoking, and alcohol consumption. Most chromosomal abnormalities occur spontaneously and are not treatable. However, early prenatal screening and diagnostic tests can lessen the effects of the conditions. There is also a growing belief that certain diets and drugs capable of changing gene expressions can be formulated to neutralize the effects of chromosomal abnormalities. Conclusion Meiotic and mitotic errors during gametogenesis and fetal development, respectively, can cause chromosomal abnormalities, which predispose to infertility. Couples who are at increased risk, particularly those with a family history of infertility and women at an advanced age (≥ 35 years), should seek medical advice before getting pregnant.

Role of Antioxidants of Natural Herbs in Management of Male Infertility

“…This suggests that the amount of reactive oxygen species present in the sperm is an essential component in deciding whether or not this approach will be successful. This indicates that the addition of antioxidants to the medium could aid in the growth of the embryos, which would ultimately result in more births [237].…”

Background, Diagnosis, Types, Management/Prevention and Implications of Chromosomal Abnormalities

“…The gain or loss of chromosome is also known as aneuploidy. When a single chromosome is removed from a pair of chromosomes called monosomy [7]. Trisomy or tetrasomy occurs when one or more chromosomes are gained.…”

Kadın İnfertilitesinin Genetik Nedenlerine Güncel Yaklaşım ve Genetik Danışmanlık

“…About 40-50% of affected females have the karyotype 45,X; 15-25% have mosaicism (45,X/46,XX); 20% have isochromosomes, and a small percentage of them have ring X chromosomes. In addition, 10-12% of women also have varying amounts of Y chromosome material (14). Structural chromosomal abnormalities are classified into two groups: balanced and unbalanced abnormalities.…”

“…Since there is no segment loss in balanced chromosomal abnormalities, it does not cause a phenotypical change or disease at the balanced abnormality carrier. However, individuals with this balanced chromosomal abnormality can form unstable gametes due to segmental loss or gains and cause disease in subsequent generations (14). Chromosome deletion is an abnormality in which a segment of the chromosome is deleted.…”

“…Chromosomal deletions affecting the sex chromosomes will most likely impair reproductive development. Deletion in X chromosomes can cause defective chromosomal synapses, meiotic arrest, as well as POI, gonadal dysgenesis, and infertility (14).…”