Análise citogenética em material de abortamento espontâneo

Rolnik, Daniel L.; Carvalho, M H B; Catelani, Ana Lúcicia Pereira Monteiro; Pinto, Ana Paula; Lira, Juliana Branco Gonçalves; Kusagari, Neusa Kiyomimi; Belline, Paula; Chauffaille, Maria de Lourdes Lopes Ferrari

doi:10.1590/s0104-42302010000600017

Cited by 12 publications

(10 citation statements)

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“…Tanuri et al2 compared results of retropubic and transobturator sling for surgical treatment of female stress urinary incontinence which were effective at one-year follow-up. Rolnik et al3 described chromosomal abnormalities in spontaneous abortion material and found that cytogenetic alterations are an important cause of pregnancy loss and their detection helps the genetic counseling to the couple. Trisomy 16 is the most often found change.…”

Section: Reviewmentioning

confidence: 99%

An overview of recently published medical papers in Brazilian scientific journals

Silva

Gomes

2011

Clinics

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A brief review intended as information to the readership of Clinics on papers recently published under various medical headings in Brazilian scientific journals recently indexed or about to be indexed in ISI-THOMSON Journal Citation Reports. Journals covered in this review are Acta Ortopédica Brasileira, Arquivos Brasileiros de Cardiologia, Jornal Brasileiro de Pneumologia, Revista Brasileira de Cirurgia Cardiovascular and Revista da Associação Médica Brasileira.

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Section: Reviewmentioning

confidence: 99%

An overview of recently published medical papers in Brazilian scientific journals

Silva

Gomes

2011

Clinics

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“…Two of them referred not having reached the results and the cell culture failure in the cytogenetic analysis (CA). 11,12 The CA of products of conception presents at least two main challenges, cell culture failure and excess of normal woman karyotypes related to maternal cell contamination. Although the CA of abortive material is highly recommended, alternative complementary techniques for CA such as Fluorescence in situ Hybridization / FISH, 52,53 Multiplex Ligationdependent Probe Amplification / MLPA, 54 Quantitative fluorescent polymerase chain reaction / QF-PCR 55,56 and array Comparative Genomic Hybridization / CGH 57 have been used for genetic testing on miscarriage samples.…”

Section: Discussionmentioning

confidence: 99%

“…58 Chromosomal abnormalities in miscarriage material was found above 50% in approximately 70% of the studies. 12,[27][28][29] A frequency of 61% of chromosome abnormalities in products of conception was detected by CA. 55 Other studies using cytogenetics found lower frequencies (33.24% and 48%) of chromosomal abnormalities.…”

Section: Discussionmentioning

confidence: 99%

“…10 In addition, products of conception are characterized by a low sample quality that often leads to a cell culture failure. 11,12 In case of culture failure or maternal contamination, molecular techniques may contribute to detect additional chromosome abnormalities in these miscarriage samples in addition to standard karyotyping. 13 A recent review also summarized a current knowledge on the genetic causes (karyotype abnormalities, recessive diseases carrier status, dominant diseases and thrombophilia) of the RM.…”

Section: Introductionmentioning

confidence: 99%

“…13 From the 102 and 137 articles identified in PubMed / Medline and BVS, eight and six were included, respectively. A further search was performed from the references of the articles identified in the investigated database and three articles 11,12,16 were included, a total of 17 scientific articles.…”

Section: Introductionmentioning

confidence: 99%

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Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

Marqui

2018

Rev. Bras. Saude Mater. Infant.

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Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

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Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances

et al. 2022

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Objective: To assess the outcomes of pregnancies at high-risk for rare autosomal trisomies (RATs) and segmental imbalances (SIs) on cell-free DNA (cfDNA) screening.Method: A retrospective study of women who underwent cfDNA screening between September 2019 and July 2021 at three ultrasound services in Australia.Positive predictive values (PPVs) were calculated using fetal chromosomal analysis.Results: Among 23,857 women screened, there were 93 high-risk results for RATs (0.39%) and 82 for SIs (0.34%). The PPVs were 3.8% (3/78, 95% CI 0.8%-10.8%) for RATs and 19.1% (13/68, 95% CI 10.6%-30.5%) for SIs. If fetuses with structural anomalies were also counted as true-positive cases, the PPV for RATS increased to 8.5% (7/82, 95% CI 3.5%-16.8%). Among 85 discordant cases with birth outcomes available (65.4%), discordant positive RATs had a significantly higher proportion of infants born below the 10th and 3rd birthweight percentiles than expected (19.6% (p = 0.022) and 9.8% (p = 0.004), respectively), which was not observed in the SI group (2.9% < 10th (p = 0.168) and 0.0% <3rd (p = 0.305)). Conclusion:The PPVs for SI and RAT results are low, except when a structural abnormality is also present. Discordant positive RATs are associated with growth restriction. Key points What is already known about this topic?� Prenatal cell-free DNA (cfDNA) screening has high accuracy in screening for trisomies 21, 18 and 13. � The positive predictive values of cfDNA screening for rare autosomal. Trisomies rare autosomal trisomies (RATs) and segmental imbalances (SIs) are lower than that for common autosomal trisomies. � Fetal exclusion of chromosomal anomaly following high-risk cfDNA screen may indicate confined placental involvement.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Análise citogenética em material de abortamento espontâneo

Cited by 12 publications

References 11 publications

An overview of recently published medical papers in Brazilian scientific journals

An overview of recently published medical papers in Brazilian scientific journals

Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances

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