Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review

Abstract

The aim of this study is to evaluate the frequency and nature of chromosomal abnormalities in Moroccan couples with recurrent spontaneous miscarriage (RSM). In addition, the data were compared with those reported elsewhere in order to give a global estimation of chromosomal abnormalities frequencies. Methods The study was performed for all couples with RSM who were referred to the cytogenetic department, Pasteur Institute of Morocco, from different hospitals in Morocco between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Results Among 627 couples with RSM, the chromosomal abnormalities were identified in 11.00% of couples, with chromosomal inversions in 4.30%, reciprocal translocations in 2.71%, Robertsonian translocations in 1.43%, and deletion, isochromosome, and insertion in 0.15% each. The insertion identified [46,XX,ins(6)(p24q21q27)] is new, and is the fourth reported in association with RSM. The mosaic karyotypes were observed in 0.64%, polymorphic variants were identified in 1.27%, and numerical aneuploidy was observed in 0.15%. In regrouping our results with those in 27 other studies already published in 21 different countries, we obtained the frequency of chromosomal abnormalities in couple with RSM to be 5.16% (991/19197 couples). The reciprocal translocation was the most frequent with 2.50%, followed by Robertsonian translocation 0.83% and inversions 0.77%. The other types of chromosomal abnormalities were present with 0.98% in the world. Conclusion This data showed that the frequency of chromosomal abnormalities in Moroccan couples with RSM is 11.00%, and in regrouping our results with other studies, the frequency changes to 5.16%.

Family history and risk of miscarriage: A systematic review and meta‐analysis of observational studies

“…[8][9][10] Over 5% of couples with recurrent miscarriage are also thought to personally carry chromosomal abnormalities which may increase the risk of chromosomal abnormalities in the fetus causing miscarriage or recurrent miscarriage. 11 If genetic factors have a role in miscarriage or recurrent miscarriage, either through specific gene polymorphisms or via chromosomal translocations, it is possible that such a genetic predisposition could be inherited through families. Many environmental and lifestyle factors are also associated with miscarriage, such as ionizing radiation, 12 exposure to environmental heavy metals and chemicals, 13 smoking, caffeine intake, extremes of body mass index and illegal drugs.…”

Analysis of the clinical features of pericentric inversion of chromosome 9

“…Many studies have reported that inv9 was closely associated with recurrent spontaneous miscarriage, infertility, congenital anomalies, and idiopathic reproductive failure. 5,6,8,9,17 In our study, 92.54% of adults with inv9 exhibited clinical characteristics such as male and female infertility, spontaneous abortion, and bad obstetric history. In early pregnancy, 100% of fetuses with inv9 exhibited abnormal phenotypes and adverse pregnancy outcomes, while in the second trimester, the rates of abnormal phenotypes and adverse outcomes in fetuses with inv9 robustly decreased.…”

“…The clinical features of growth stages in humans with inv9 were variable. The phenotypes that are associated with inv9 in prenatal, 18 , 19 newborn, 8 , 18 , 20 adolescent, 3 , 17 , 18 , 21 adult, 5 , 6 , 22 and elderly 23 , 24 stages are summarized in Table 3 . There were no commonly shared clinical features within a certain period.…”

“…The inversion of chromosome 9 used to be considered a normal variant with no clinical phenotypic effect. 2 However, some studies using classical cytogenetics have recently shown that inv9 could be associated with infertility, 4,5 recurrent miscarriages, 6 and idiopathic reproductive failure. 7 Various studies on inv9 have also showed an association with azoospermia, congenital anomalies, growth retardation, and, rarely, with an abnormal phenotype.…”

The Endometrial Immune Profiling May Positively Affect the Management of Recurrent Pregnancy Loss

“…In 2018, the ESHRE guideline reduced to two the number of spontaneous miscarriages required before initiating explorations. Documented causes of this multifactorial, heterogeneous disorder include oocyte and sperm parameters, parental chromosomal structure, anatomical structure, immunological and thrombophilia factors (antiphospholipid syndrome, factor V Leiden, factor II homozygous mutation carriers), hormonal conditions and lifestyle, which implies that a multidisciplinary approach is required for the management of RPL (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15).…”