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BMC Genomics

Open Access

Analysis of chromosomal and genetic disorders in patients with recurrent miscarriages in Saudi Arabia

  • Rola F. Turki1,
  • Huda A. Banni2,
  • Mourad Assidi2, 3,
  • Mohammed H. Al-Qahtani2,
  • Hassan S. Abduljabbar1,
  • Hassan S. Jamel1,
  • Abdulrahim A. Rouzi1 and
  • Adel M. Abuzenadah2, 3Email author
BMC Genomics201415(Suppl 2):P73

https://doi.org/10.1186/1471-2164-15-S2-P73

Published: 2 April 2014

Background

Recurrent spontaneous abortion has been reported to occur in 15-20% of all clinically recognizable pregnancies. Numerous studies have reported a clear relationship between the chromosomal abnormalities in parents and recurrent miscarriages and infertility [13], however limited data is available from Arabian Peninsula. The main goal of this study was to determine the prevalence of chromosomal abnormalities and correlate them with clinical characteristics of couples with recurrent spontaneous abortions (RSA) in Saudi Arabia.

Materials and methods

Cytogenetic analysis of 171 consent patients with spontaneous recurrent abortions was performed by the standard method of 72-hour lymphocyte culture and GTG banding. Further validation by conventional PCR and gel electrophoresis was done whenever required.

Results

Our results showed that 6.43% of patients are carrier of a chromosomal abnormality. The prevalence of mosaicism, balanced translocations, duplications, Robertson translocation, triple X syndrome, and allelic polymorphism were 2.34%, 1.17%, 1.17%, 0.58%, 0.58% and 1.17% respectively. Interestingly, our data showed that women exhibited a higher prevalence to these chromosomal and genetic aberrations than men with female to male ratio of 2.7:1. A significant correlation (P<0.05; Table 1) was found between consanguineous marrying families and chromosomal abnormalities in subjects with recurrent abortions, confirming previous findings [4, 5]. Surprisingly, 78.6% of young women (≤35 years) with chromosomal aberrations had recurrent miscarriages and therefore infertility problems.
Table 1

Clinical features of RSA patients with chromosomal abnormalities in RSA cases

 

Normal karyotypes

Chromosomal abnormalities

P value*

Patient gender

Male

70

3

0.356

Female

90

8

 

Abortion stage

Trimester 1

68

10

0.452

Trimester 2 or 3

19

01

 

Abortion frequency

≤3

49

4

0.339

>3

40

7

 

Type of marriage

Consanguineous

51

7

0.046

Non-consanguineous

109

4

 

Citizenship

Saudi

117

6

0.295

Non Saudi

43

5

 

*Fisher exact test (significance value, P <0.05)

Conclusions

The current study reported a strong association between the higher rates of chromosomal abnormalities and recurrent spontaneous abortions. 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 (Preimplantation genetic diagnosis) as recommended elsewhere [6].

Authors’ Affiliations

(1)
Obstetrics and Gynecology Department, King Abdulaziz University
(2)
Center of Excellence in Genomic Medicine Research, King Abdulaziz University
(3)
KACST Innovation Center for Personalized Medicine, King Abdulaziz University

References

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Copyright

© Turki et al; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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