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

Abstract

BackgroundRecurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia.MethodsCytogenetic analysis of 171 consent patients with RPL was performed by the standard method of 72-h lymphocyte culture and GTG banding. Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.ResultsData analysis revealed that 7.6 % of patients were carrier of numerical or structural chromosomal abnormalities. A high rate of translocations (46 %) was associated to increased incidence of RPL. A significant correlation between consanguineous RPL patients and chromosomal abnormalities (P < 0.05) was found. Both Factor V Leiden and Prothrombin A20210G allelic polymorphisms were significantly associated with a higher prevalence of RPL.ConclusionsThis study demonstrated a strong association between RPL and the prevalence of chromosomal abnormalities and inherited thrombophilia. Given the high rate of consanguineous marriages in the Saudi population, these results underline the importance of systematic cytogenetic investigation and genetic counseling preferably at the premarital stage or at least during early pregnancy phase through preimplantation genetic diagnosis (PGD).

Weighted gene correlation network analysis reveals novel regulatory modules associated with recurrent early pregnancy loss

“…Recurrent early pregnancy loss (REPL), defined as two or more consecutive pregnancy losses at <10 weeks of gestation, affects 5% of couples aimed at childbirth [1]. While fetal chromosomal abnormalities represent the major factor behind sporadic miscarriages, they account for a smaller fraction of miscarriage events in REPL couples [2,3]. Currently available diagnostic procedures allow to identify clinical conditions increasing their risk to pregnancy failure and to offer appropriate management options only in 50% of REPL couples [1,4].…”

Inherited thrombophilia and recurrent pregnancy loss: a single-center case-control study in North-Western Algeria

“…In Saudi Arabia, a study showed that the frequencies of FVL and prothrombin mutations among recurrent miscarriages patients were relatively high compared to general incidence supporting the hypothesis of considering them as RPL genetic factors [25].…”

Three-factorial genetic thrombophilia with recurrent thrombotic events in a Saudi patient: A case report

“…In terms of other serious complications, pulmonary embolism has been reported in a 19-year-old patient with type I antithrombin deficiency and a PT 20210 mutation [ Table 1 ],[ 10 ] and recurrent pregnancy loss was observed in Saudi females with allelic polymorphisms in FVL and PT 20210 genes. [ 19 ] Similarly, in an early study from Germany, genomic mutations of PT and FVL were reported in 9.3% of women, and this increased the risk of VTE during pregnancy and puerperium. [ 20 ] In children, although the risk of stroke has been independently associated with the homozygous MTHFR mutations alone, recurrent stroke as well as a combination of three inherited mutations (PT G20210A, MTHFR and plasminogen activator inhibitor-1) has been recently reported in a Saudi child.…”