Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia

Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

Download Full-text

Chromosomal Abnormalities in 238 Couples with Recurrent Miscarriages in Morocco

Open Journal of Genetics ◽

10.4236/ojgen.2018.82002 ◽

2018 ◽

Vol 08 (02) ◽

pp. 15-22 ◽

Cited By ~ 1

Author(s):

Hanane Houmaid ◽

Chadli El Bekkay ◽

Sanaa Nassereddine ◽

Hayat Talbi ◽

Loubna Amehdare ◽

...

Keyword(s):

Chromosomal Abnormalities ◽

Recurrent Miscarriages

Download Full-text

RECIPROCAL TRANSLOCATION t (6; 8) (q25-27; q23): CASE REPORT

Gulustan-Black Sea Scientific Journal of Academic Research ◽

10.36962/gbssjar ◽

2020 ◽

Vol 55 (04) ◽

pp. 67-68

Author(s):

Aytakin Hasanova

Keyword(s):

Reciprocal Translocation ◽

Cytogenetic Analysis ◽

Chromosomal Abnormalities ◽

Normal Karyotype ◽

Intrauterine Death ◽

Reciprocal Translocations ◽

Recurrent Miscarriages ◽

Fetal Wastage ◽

History Of ◽

Recurrent Abortions

Reciprocal translocations are the most common structural chromosomal abnormalities in humans. In this study, the results of cytogenetic analysis performed on a couple with a reproductive history of three abortions and one intrauterine death referred to our laboratory are presented. Normal karyotype (46, XY) in male and reciprocal translocation 46XX t (6; 8) (q25-27; q23) in female were determined. In about 4% of couples with recurrent miscarriages, one of the parents is either a balanced reciprocal translocation or a robertsonian translocation carrier. Therefore, cytogenetic analysis should be recommended to couples with recurrent miscarriages. Keywords: Recurrent Abortions, Fetal Wastage, Reciprocal Translocation

Download Full-text

Chromosomal abnormalities in 163 Tunisian couples with recurrent miscarriages

Pan African Medical Journal ◽

10.11604/pamj.2017.28.99.11879 ◽

2017 ◽

Vol 28 ◽

Cited By ~ 3

Author(s):

Wiem Ayed ◽

Islem Messaoudi ◽

Zouhour Belghith ◽

Wajih Hammami ◽

Imen Chemkhi ◽

...

Keyword(s):

Chromosomal Abnormalities ◽

Recurrent Miscarriages

Download Full-text

Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

Scientific Reports ◽

10.1038/s41598-021-86309-9 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Kimia Najafi ◽

Zohreh Mehrjoo ◽

Fariba Ardalani ◽

Siavash Ghaderi-Sohi ◽

Ariana Kariminejad ◽

...

Keyword(s):

Genetic Testing ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Chromosomal Abnormalities ◽

Comparative Genomic ◽

Iranian Women ◽

Recurrent Miscarriages ◽

Consanguineous Marriages ◽

Whole Exome ◽

Significant Difference

AbstractRecurrent miscarriages occur in about 5% of couples trying to conceive. In the past decade, the products of miscarriage have been studied using array comparative genomic hybridization (a-CGH). Within the last decade, an association has been proposed between miscarriages and single or multigenic changes, introducing the possibility of detecting other underlying genetic factors by whole exome sequencing (WES). We performed a-CGH on the products of miscarriage from 1625 Iranian women in consanguineous or non-consanguineous marriages. WES was carried out on DNA extracted from the products of miscarriage from 20 Iranian women in consanguineous marriages and with earlier normal genetic testing. Using a-CGH, a statistically significant difference was detected between the frequency of imbalances in related vs. unrelated couples (P < 0.001). WES positively identified relevant alterations in 11 genes in 65% of cases. In 45% of cases, we were able to classify these variants as pathogenic or likely pathogenic, according to the American College of Medical Genetics and Genomics guidelines, while in the remainder, the variants were classified as of unknown significance. To the best of our knowledge, our study is the first to employ WES on the products of miscarriage in consanguineous families with recurrent miscarriages regardless of the presence of fetal abnormalities. We propose that WES can be helpful in making a diagnosis of lethal disorders in consanguineous couples after prior genetic testing.

Download Full-text