Y chromosome polymorphisms may contribute to an increased risk of male-induced unexplained recurrent miscarriage

Abstract

The present study aims to explore the relationship between the Y chromosome polymorphisms (1qh+, inv(9), 9qh+, 16qh+, group D/G, Yqh– and Yqh+) and the risk of unexplained recurrent miscarriage (URM). A total of 507 couples with URM were recruited as case group and 465 healthy couples as control group. The Y chromosome polymorphisms of the male individuals were analysed with the G-banding technique, and the results of the chromosome G-banding analysis were determined using the International Naming Standards of Human Genetics (ISCN). Logistic regression analysis was used to analyse the risk factors for URM. The detection rate of Y chromosome polymorphisms in the case group (12.03%) was higher than that in the control group (2.15%). Y chromosome polymorphisms were detected at significantly higher rates in the case group than in the control group. Using the normal Y chromosomes in individuals of the case group as reference, the partners of their counterparts were more likely to experience miscarriage. The couples who were Y chromosome-polymorphism carriers had shorter gestational age, increased frequency of URM and longer average interval between pregnancies. The results of logistic regression analysis revealed that Y chromosome polymorphisms, shorter gestational age, a higher frequency of miscarriage and longer pregnancy interval were independent risk factors for URM. Y chromosome polymorphisms may be associated with the risk of URM and may play an important role in the development of URM.

Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities

“…Chromosomal polymorphism, also known as chromosomal normal variation, is defined as the constant small variations in chromosome morphology, including variation in length, number and position, and is usually without obvious manifestation and pathological significance. Chromosomal polymorphism has been reported to be associated with some disorders, such as recurrent miscarriage, stillbirth, foetal death, azoospermia, and infertility [15][16][17]. In this study, 80 cases of chromosomal polymorphism were detected, while inversion variants were classified as structural chromosome rearrangements according to ISCN 2016.…”

Chromosomal polymorphisms are independently associated with multinucleated embryo formation

“…This result may explain some surprising results of the previous studies. Some previous studies reported that chromosomal polymorphism had a high incidence rate in infertile couples [15,24,25] and couples with recurrent miscarriage [16,17,34,35]; However, there was no apparent adverse effect in IVF treatment in some studies [12,13]. The possible mechanism is couples with chromosomal polymorphic variants may be more likely to produce sperm [32,33] and embryos [33] with abnormal chromosomal components; these abnormal chromosomic embryos can be seen as multinucleation in embryo culture [6,8]; furthermore, these embryos may lead to infertility and/or recurrent miscarriage in natural conception.…”

Genomic and structural abnormalities of the chromosome set of the fetus, depending on the age of pregnant women

“…Up to 45 years, the frequency of spontaneous abortions increases by 3 times or more with age. This phenomenon can be explained by the fact that spot abortion is often caused by chromosomal diseases, the frequency of which depends on age (up to 40-45%) [6][7][8][9]. In addition, it was shown that the probability of giving birth to a child with Down syndrome at the age of 30 by the mother is about 1:2500, at the age of 31-34 -1:1200, at the age of 35-39 -1:200 [10].…”