Chromosomal abnormalities in couples with recurrent first trimester abortions

Gonçalves, Rozana Oliveira; Santos, Wendell Vilas Boas; Sarno, Manoel; Cerqueira, Bruno A. V.; Gonçalves, Marilda Souza; Costa, Ozeas S.

doi:10.1590/s0100-72032014000300004

Cited by 26 publications

(24 citation statements)

References 17 publications

(19 reference statements)

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“…The frequency of chromosomal abnormalities was found to be higher in women with recurrent miscarriages (7.3%) than in men (2.1%) (Gonçalves et al, 2014). A proposed mechanism contributing to the higher incidence of female translocation carriers is that only one ovum matures each month, whereas male carriers release millions of sperm in every ejaculation, resulting in possible pre-zygotic selection against unbalanced gametes (Kochhar and Ghosh, 2013).…”

Section: Discussionmentioning

confidence: 99%

“…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). Parental chromosomal abnormalities are an important genetic cause of RSAs and recurrent miscarriage (Rubio et al, 2003;Pourjafari et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

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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“…Based on our present and previous results [23], we presume that at least two different subgroups of patients with X chromosome mosaicism exist. The mean age of women with true X mosaicism and low-level X mosaicism was significantly different in both studies; in our recent study, the values were In couples with recurrent spontaneous abortion, X chromosome mosaicism was identified in 3-16% [33,[35][36][37][38][39]. In 50 cells counted, Düzcan et al showed mosaicism of either structural rearrangements or aneuploidies of sex chromosomes in 7 cases out of 354 with reproductive failure [38].…”

Section: Discussionmentioning

confidence: 63%

Chromosomal Abnormalities and Menstrual Cycle Disorders

Geršak¹,

Gersak²

2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

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Chromosomal abnormalities have long been recognized as a cause of menstrual cycle disorders, premature ovarian insufficiency, and recurrent pregnancy loss. In women with X chromosome abnormalities, premature ovarian insufficiency is mainly a consequence of ovarian follicle depletion, due to insufficient initial follicle number and/or spontaneous accelerated follicle loss. The level of X chromosome mosaicism and its reproductive significance is still under debate. In our study, we evaluated the contribution of X chromosome abnormalities in women with sporadic idiopathic premature ovarian insufficiency (POI) and in women with a history of recurrent pregnancy loss. The results show that X aneuploidy and low-level mosaicism have reproductive significance in the phenotypically normal women with recurrent pregnancy loss and/or fertility problems. These results have practical implications for genetic counseling and fertility treatment.

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“…The case group was comprised 137 women with an obstetrical history of two or more consecutive first-trimester abortions (£12 weeks gestation). Inclusion and exclusion criteria were consistent with those defined in a previous study conducted by our group (Gonçalves et al, 2014). The control group consisted of 100 healthy women with no history of pregnancy loss, with at least one living child, and ≤40 years of age.…”

Section: Study Subjectsmentioning

confidence: 99%

Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women

Gonçalves¹,

Fraga²,

Santos³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations -factor 2 R.O. Gonçalves et al. Genetics and Molecular Research 15 (3): gmr.15038156 V (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T -in women with recurrent miscarriages. In this case-control study, we included 137 women with two or more consecutive first-trimester miscarriages (£12 weeks of gestation) and 100 healthy women with no history of pregnancy loss, and with at least one living child. DNA was extracted from the patient samples, and the relevant genes (FVL, FII, and MTHFR) were amplified by PCR, followed by restriction fragment length polymorphism, to assess the polymorphisms in these genes. The allelic frequencies of polymorphisms were not significantly different between the case and control groups. Polymorphisms in the MTHFR, FVL, and FII genes were not associated with recurrent miscarriage during the first trimester of pregnancy in Brazilian women (P = 0.479; P = 0.491 and P = 0.107, respectively). However, the etiologic identification of genetic factors is important for genetic counseling.

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Chromosomal abnormalities in couples with recurrent first trimester abortions

Cited by 26 publications

References 17 publications

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

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

Chromosomal Abnormalities and Menstrual Cycle Disorders

Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women

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