Document Details

Document Type : Article In Journal 
Document Title :
Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia
Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia
 
Document Language : English 
Abstract : 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). 
ISSN : 1471-2350 
Journal Name : BMC medical genetics 
Volume : 17 
Issue Number : 1 
Publishing Year : 1437 AH
2016 AD 
Article Type : Article 
Added Date : Sunday, July 9, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Rola TurkiTurki, Rola ResearcherDoctorate 
Osama BajouhBajouh, Osama ResearcherDoctorate 
Mourad AssidiAssidi, Mourad ResearcherDoctorate 
Huda BanniBanni, Huda ResearcherMaster 
Muhammad Abu-ElmagdAbu-Elmagd, Muhammad ResearcherDoctorate 
Adel AbuzenadahAbuzenadah, Adel ResearcherDoctorate 
Hanan ZahedZahed, Hanan ResearcherDoctorate 
Sajjad KarimKarim, Sajjad ResearcherDoctorate 
Hans-Juergen SchultenSchulten, Hans-Juergen ResearcherDoctorate 
Abdulrahim RouziRouzi, Abdulrahim ResearcherDoctorate 
Hassan JamalJamal, Hassan ResearcherDoctorate 
Mohammed Al-QahtaniAl-Qahtani, Mohammed ResearcherDoctorate 

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