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

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 da...

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Bibliographic Details
Published in:BMC medical genetics 2016-10, Vol.17 (Suppl 1), p.69, Article 69
Main Authors: Turki, Rola F, Assidi, Mourad, Banni, Huda A, Zahed, Hanan A, Karim, Sajjad, Schulten, Hans-Juergen, Abu-Elmagd, Muhammad, Rouzi, Abdulrahim A, Bajouh, Osama, Jamal, Hassan S, Al-Qahtani, Mohammed H, Abuzenadah, Adel M
Format: Article
Language:English
Subjects:
Abortion, Habitual - etiology
Abortion, Habitual - genetics
Adolescent
Adult
Alleles
Chromosome Aberrations
Chromosomes
Consanguinity
Embryos
Enzymes
Factor V - genetics
Families & family life
Family planning
Female
Genes
Humans
Lymphocytes - cytology
Lymphocytes - metabolism
Male
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Middle Aged
Miscarriage
Patients
Placental abruption
Polymorphism, Genetic
Pregnancy
Prothrombin - genetics
Reproductive health
Risk Factors
Saudi Arabia
Thrombophilia - complications
Thrombophilia - diagnosis
Thrombophilia - genetics
Translocation, Genetic
Womens health
Young Adult
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Summary: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. 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. 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 
ISSN:1471-2350
1471-2350
DOI:10.1186/s12881-016-0331-1