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

Autor:	Turki RF; Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.; Center of Innovation in Personalized Medicine, King AbdulAziz University, P.O. Box: 80216, Jeddah, 21589, Kingdom of Saudi Arabia., Assidi M; Center of Innovation in Personalized Medicine, King AbdulAziz University, P.O. Box: 80216, Jeddah, 21589, Kingdom of Saudi Arabia.; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia., Banni HA; Center of Innovation in Personalized Medicine, King AbdulAziz University, P.O. Box: 80216, Jeddah, 21589, Kingdom of Saudi Arabia.; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia., Zahed HA; Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Karim S; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia., Schulten HJ; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia., Abu-Elmagd M; Center of Innovation in Personalized Medicine, King AbdulAziz University, P.O. Box: 80216, Jeddah, 21589, Kingdom of Saudi Arabia.; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia., Rouzi AA; Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Bajouh O; Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.; Center of Innovation in Personalized Medicine, King AbdulAziz University, P.O. Box: 80216, Jeddah, 21589, Kingdom of Saudi Arabia., Jamal HS; Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Al-Qahtani MH; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia., Abuzenadah AM; Center of Innovation in Personalized Medicine, King AbdulAziz University, P.O. Box: 80216, Jeddah, 21589, Kingdom of Saudi Arabia. aabuzenadah@kau.edu.sa.; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia. aabuzenadah@kau.edu.sa.
Jazyk:	angličtina
Zdroj:	BMC medical genetics [BMC Med Genet] 2016 Oct 10; Vol. 17 (Suppl 1), pp. 69. Date of Electronic Publication: 2016 Oct 10.
DOI:	10.1186/s12881-016-0331-1
Abstrakt:	Background: Recurrent 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. Methods: Cytogenetic 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. Results: Data 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. Conclusions: This 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).
Databáze:	MEDLINE
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