title: Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia.
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).
authors: 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.
authors: Rola F
authors: RF
authors: Turki
authors: 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.
authors: Mourad
authors: M
authors: Assidi
authors: 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.
authors: Huda A
authors: HA
authors: Banni
authors: Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
authors: Hanan A
authors: HA
authors: Zahed
authors: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors: Sajjad
authors: S
authors: Karim
authors: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors: Hans-Juergen
authors: HJ
authors: Schulten
authors: 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.
authors: Muhammad
authors: M
authors: Abu-Elmagd
authors: Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
authors: Abdulrahim A
authors: AA
authors: Rouzi
authors: 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.
authors: Osama
authors: O
authors: Bajouh
authors: Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
authors: Hassan S
authors: HS
authors: Jamal
authors: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors: Mohammed H
authors: MH
authors: Al-Qahtani
authors: 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.
authors: Adel M
authors: AM
authors: Abuzenadah
mesh_terms: D000026:Abortion, Habitual / Q000209:etiology* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000483:Alleles; D002869:Chromosome Aberrations; D003241:Consanguinity; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D008214:Lymphocytes / Q000166:cytology / Q000378:metabolism; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D012529:Saudi Arabia; D019851:Thrombophilia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Chromosomal aberrations; Consanguinity; Cytogenetic analysis; Recurrent pregnancy loss; Thrombophilia