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

Turki, Rola; Banni, Huda A.; Assidi, Mourad; Al‐Qahtani, Mohammed; Abduljabbar, Hassan; Jamel, Hassan S.; Rouzi, Abdulrahim A.; Abuzenadah, Adel M.

doi:10.1186/1471-2164-15-s2-p73

Cited by 5 publications

(4 citation statements)

References 5 publications

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“…Women with a previous history of receiving antibiotics in the last two months or HPV vaccine were excluded from the study as previously described. 12 All swabs were tested for HPV by polymerase chain reaction (PCR) and positive samples were then used to determine circulating genotypes by sequencing. Additionally, archived serum samples that were randomly collected from healthy male and female blood donors (394 females and 572 males) in the years 2012, 2013 and 2017, were screened for HPV IgG by ELISA.…”

Section: Methodsmentioning

confidence: 99%

Prevalence of human papillomavirus in Jeddah, Saudi Arabia

et al. 2019

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BACKGROUND: Human papillomaviruses (HPVs) are small, non-enveloped, double-stranded DNA viruses that consist of more than 200 genotypes. Low-risk genotypes are associated with warts or benign lesions, whereas high-risk genotypes are usually associated with malignancies and cancers including cervical cancer. However, the real prevalence and incidence of HPV in Saudi Arabia may be understated due to a lack of comprehensive data reporting.OBJECTIVES: Determine the positivity rate of HPV in men and women in Jeddah, Saudi Arabia.DESIGN: Cross-sectional.SETTING: Tertiary care center in Jeddah.SUBJECTS AND METHODS: Self-collected vaginal swab samples were obtained from females attending the gynecological clinic in the period between October 2017 and April 2018 at a tertiary care center, Jeddah, Saudi Arabia. PCR-positive HPV samples were sequenced to determine genotype. Additionally, serum samples were collected from healthy male and female blood donors and screened for HPV IgG antibodies by ELISA.MAIN OUTCOME MEASURES: Molecular and serological positivity for HPV.SAMPLE SIZE: 119 self-collected vaginal swabs from females at a gynecology clinic and 966 serum samples from healthy blood donors.RESULTS: Of the 119 tested vaginal swabs, 7 samples (5.9%) were positive for HPV DNA. Several genotypes were identified. Most of the positive samples were from Saudi females in the age range of 31-50 years seeking care for infertility. Of the 966 serum samples, only 16 samples (1.7%) were positive for HPV IgG antibodies.CONCLUSION: While the prevalence of HPV in men and women in our sample from the western region of Saudi Arabia was low, our data clearly show that it is not uncommon among high-risk groups and people are still exposed to the risk of HPV infection. Most importantly, these data provide valuable information that could aid in enhancing national awareness about HPV and in introducing an HPV vaccination program.LIMITATIONS: Single hospital and a convenience sampleCONFLICT OF INTEREST: None.

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Section: Methodsmentioning

confidence: 99%

Prevalence of human papillomavirus in Jeddah, Saudi Arabia

et al. 2019

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“…Recurrent spontaneous abortions (RSAs) occur in approximately 15-20% of all clinically recognizable pregnancies (Dutta et al, 2011;Gada Saxena et al, 2012;Turki et al, 2014;Ghazaey et al, 2015). RSA is considered a multifactorial problem, with different causes involved in its etiology, including genetic, environmental, endocrine, and infectious diseases (Gonçalves et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Structural chromosomal abnormalities in couples in cases of recurrent spontaneous abortions in Jilin Province, China

Ht¹,

Zhang²,

Zhan³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Recurrent spontaneous abortions (RSAs) occur in approximately 15 to 20% of all clinically recognizable pregnancies. Structural chromosome abnormalities result in increased risk of pregnancy loss. Parental chromosomal abnormalities are an important genetic cause of RSAs. Some cytogenetic investigations have been performed in various countries and regions to determine the pattern of chromosomal abnormalities in parents with RSAs. The aim of this study was to report the prevalence and type of structural chromosomal abnormalities in couples in cases of RSAs in Jilin Province, China. The prevalence of structural chromosomal abnormalities in these couples was 2.98%. The number of female carriers with balanced chromosomal aberrations significantly exceeded that of such male carriers, and the ratio of female/male carriers was approximately 2:1. The number of abortions in the case of female carriers was more than that for male carriers before the structural chromosome abnormality was diagnosed. This indicates that genetic counseling for couples with structural chromosomal abnormalities should consider the gender of the carriers.

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“…Recurrent pregnancy loss (RPL), or recurrent miscarriage (RM) is described as three or more sequential unpremeditated abortions before 20 weeks of gestation (1), a condition termed "habitual abortion" or "repeated spontaneous abortions" (2). RPL affects couples at propagative age around the world.…”

Section: Introductionmentioning

confidence: 99%

Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss

et al. 2021

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Family trio next-generation sequencing-based variant analysis was done to identify the genomic reason on unexplained recurrent pregnancy loss (RPL). A family (dead fetus and parents) from Saudi Arabia with an earlier history of three unexplained RPLs at the ninth week of pregnancy was included in the study. Whole-genome sequencing (WGS) of a dead fetus and the parents was done to identify the pathogenic variation and confirmed through Sanger sequencing. WGS of dead fetus identifies a novel homozygous exonic variation (NM_017419.3:c.680G>T) in ASIC5 (acid-sensing ion channel subunit family member 5) gene; the parents are heterozygous. Newly designed ARMS PCR followed by direct sequencing confirms the presence of heterozygous in one subject and absence of homozygous novel mutation among randomly selected healthy Saudis. The second family with heterozygous was confirmed with three unexplained RPLs. Pathogenicity analysis of R227I amino acid substitution in ASIC5 protein through molecular docking and interaction analysis revealed that the mutations are highly pathogenic, decrease the stability of the protein, and prevent binding of amiloride, which is an activator to open the acid-sensing ion channel of ASIC5. The identified rare and novel autosomal recessive mutation, c.680G>T:p.R227I (ASIC5Saudi), in two families confirm the ASIC5 gene association with RPL and can be fatal to the fetus.

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

Cited by 5 publications

References 5 publications

Prevalence of human papillomavirus in Jeddah, Saudi Arabia

Prevalence of human papillomavirus in Jeddah, Saudi Arabia

Structural chromosomal abnormalities in couples in cases of recurrent spontaneous abortions in Jilin Province, China

Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss

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