A Cytogenetic Study of Couples with Miscarriages: An Experience from Manipal Referral Centre

Moka, Rajasekhar; Gopinath, P. M.; Sreelakshmi, K.; Satyamoorthy, Kapaettu

doi:10.1080/09723757.2013.11886202

Cited by 9 publications

(14 citation statements)

References 12 publications

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“…About 15% of clinically recognized pregnancies result in spontaneous abortion (SAB) in the first trimester and the vast majority of these are the result of chromosome abnormalities (1)(2)(3). Studies of chromosomal constitutions of first trimester spontaneous abortions have revealed that at least 50% of abortions have an abnormal karyotype (4-6).…”

Section: Introductionmentioning

confidence: 99%

“…Unbalanced chromosome constitution could affect placental development resulting in pregnancy failure (9,10). Carriers of balanced reciprocal translocations have a high reproductive risk of conceiving chromosomally abnormal embryos as a result of imbalances during meiosis, leading to recurrent abortions or birth of affected children (3,11). Chromosomal abnormalities can be detected by using conventional cytogenetic analysis.…”

Section: Introductionmentioning

confidence: 99%

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Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Yakut¹,

Toru²,

Çetin³

et al. 2015

TJPATH

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Objective: About 15% of clinically recognized pregnancies result in spontaneous abortion in the first trimester and the vast majority of these are the result of chromosome abnormalities. Studies of chromosomal constitutions of first trimester spontaneous abortions have revealed that at least 50% of the abortions have an abnormal karyotype. In this study we aimed to report the single centre experience of anomalies detected in spontaneous abortions. Material and Method:We present rare numerical and structural cytogenetic abnormalities detected in spontaneous abortion materials and the histopathological findings of rest material of abortion specimens in our study population.Results: Among 457 cases, 382 were successfully karyotyped while cell culture of 75 cases failed. Cytogenetic abnormalities were detected in 127 of 382 cases (33.24%). Autosomal trisomies were the predominant chromosomal abnormalities with a frequency of 48.8%. Structural chromosomal abnormalities were infrequent in conception materials. The mean age of the mothers was highest in trisomy group, the difference being significantly important (ANOVA p< 0.001). The most frequent chromosomal abnormalities were Turner syndrome, triploidy and trisomy of chromosome 16 followed by trisomy of chromosomes 22 and 21 and tetraploidy. Double trisomies and structural chromosomal abnormalities were rare. Trisomies were more frequent in advanced maternal age. Conclusion:Detection of chromosomal abnormalities in spontaneous abortion materials is very important to clarify the causes of loss of pregnancy. Detection of structural chromosomal abnormalities in the cases and their carrier parents can provide proper genetic counseling to these families. These families can be directed towards pre-implantation genetic diagnosis to prevent further pregnancies with complications.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Yakut¹,

Toru²,

Çetin³

et al. 2015

TJPATH

View full text Add to dashboard Cite

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“…Evidence suggests that 12% of the patients with the history of recurrent miscarriages have chromosomal abnormalities 5 . In a study done in India Chromosomal aberrations were found in 8.57% of patients in which Numerical abnormalities 0.95%, Structural abnormalities 2.87% and polymorphic variants were 4.76%.This shows that cytogenetic analysis can be considered while exploring the cause of recurrent pregnancy loss 6 . Somatic and/or germ cell chromosomal abnormalities, deletions of the azoospermia factor regions in the proximal long arm of Y chromosome, DNA damage in spermatozoa and single gene mutations constitute the genetic component.…”

Section: Introductionmentioning

confidence: 98%

“…Pooling the data from the different series of infertile males, 0.5% reciprocal translocations were observed as compared to 0.1% in the newborn children. The correlation between reciprocal translocations with involvement of chromosomes 3, 4, 5,6,7,9,11,13,14,15,16,17,19,20,21,22 and the impairment of sperm production is well known 11 .…”

Section: Introductionmentioning

confidence: 99%

Chromosomes Abnormalities Among Recurrent Spontaneous Abortions Cases

Janani¹,

Murugan²,

Santhiya³

2016

Biomed. Pharmacol. J.

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Spontaneous abortion in the first trimester of pregnancy is problem among Indian women accounting for 15 to 20 percent pregnancy loss. Couples with abortion histories are probably at greater risk for cytogenetic abnormality than the couples with normal children. The abnormality associated with recurrent pregnancy loss includes translocation, inversions, recurrent aneuploidy, marker or supernumerary chromosomes, heterochromatic polymorphic etc. Hence, the present study is focused to assess the prevalence of chromosomal abnormalities among couples with repeated abortion cases. It was extrapolated that repeated pregnancy loss has was very common with abnormality in the 22p(stk+) in male.

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“…However, some researchers feel that even a spontaneous loss deserves consideration. RPL affects about 15% of births and concerns 1% of the general population [3].…”

Section: Introductionmentioning

confidence: 99%