Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases

Pylyp, L. Y.; Spynenko, Lyudmyla O.; Verhoglyad, Nataliya V.; Mishenko, Anna O.; Mykytenko, Dmytro; Zukin, V.

doi:10.1007/s10815-017-1069-1

Cited by 77 publications

(68 citation statements)

References 39 publications

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“…Importantly, CCRs are hardly ever detected during conventional karyotyping of chorion cells in a miscarriage, which is conducted starting from 4 to 5 weeks of gestation (i.e., after embryo implantation) (Pendina et al, 2014; Massalska et al, 2017; Soler et al, 2017; Pylyp et al, 2018). As of today, the literature describes only one case of CC in an embryo with multiple malformations (Macera et al, 2015).…”

Section: Constitutional Chromothripsis As a Consequence Of Genome Dammentioning

confidence: 99%

On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update

et al. 2019

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In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events. Along with already known causes and mechanisms, we introduce aberrant epigenetic regulation as a possible pathway to chromothripsis. We address the issue of chromothripsis characteristics in cancers and benign tumours, as well as chromothripsis inheritance in cases of its occurrence in germ cells, zygotes and early embryos. Summarising the presented data on different phenotypic effect of chromothripsis, we assume that its consequences are most likely determined not by the chromosome shattering and reassembly themselves, but by the genome regions involved in the rearrangement.

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Section: Constitutional Chromothripsis As a Consequence Of Genome Dammentioning

confidence: 99%

On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update

et al. 2019

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“…Recently, it has been demonstrated that fetal DNA can be isolated from maternal circulation, although this technique is reliable only for identification of trisomies 21, 18, and 13 (13). In addition, copy number variation sequencing (CNV-seq) analysis can be implemented to detect clinically significant fetal abnormalities but problems remain in interpretation of CNV (14) Until now, few studies have focused on the incidence of chromosomal abnormalities in prenatal samples among pregnant women in southern China. The main purpose of the present study was to evaluate the frequency and type of fetal chromosomal abnormalities among pregnant women following an abnormal ultrasound, positive serological screen, or noninvasive prenatal testing (NIPT) result or those with AMA or a history of miscarriage, to provide valuable information for prenatal counseling.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of fetal chromosomal abnormalities among 2318 pregnant women with indications in southern China: a retrospective study

Gu¹,

Liu²,

Wang³

et al. 2020

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Background To investigate the frequency of fetal chromosomal abnormalities among women with abnormal ultrasound, abnormal biochemical marker screening or noninvasive prenatal testing results, advanced maternal age, or history of miscarriage in southern China. Methods We retrospectively analyzed prenatal samples from pregnant women between 2015 and 2019. Conventional karyotyping was performed using GTG banding. Copy number variation sequencing was used when indicated to identify chromosomal abnormalities. Results A total of 2,318 prenatal samples (188 chorionic villus samples, 2,003 amniotic fluids, and 127 cord blood) were analyzed. The frequency of chromosomal abnormalities was 12.4% (288/2,318) in prenatal samples, and frequency in chorionic villus samples (23.9%) was higher than in amniotic fluids (13.5%) and in cord blood (5.0%; P < 0.001). Numerical anomalies were detected in 195 (8.4%) cases and the most common abnormality were trisomy 21 (103/2,318; 4.4%), trisomy 18 (31/2,318; 1.3%) and monosomy X (18/2,318; 0.8%). Sructural anomalies were found in 29 (1.3%) cases, rare anomalies such as deletions (4 cases), duplications (2 cases), and complex rearrangement (1 case), were detected. Two cases with common chromosomal polymorphisms, inv(9)(p11q12) and inv(9)(p11q13), associated with recurrent spontaneous abortion, were detected. Five fetuses had normal karyotypes and definite pathogenic copy number variations, with microdeletions at 16p13.11, 16p12.1 (2 cases), and 17p12 and a microduplication at 7q11.23; all had normal phenotypes after birth. Conclusion Our study indicated that fetal chromosomal anomalies can be detected in early gestation and provided valuable information for interpretation of chromosomal polymorphisms and copy number variations.

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“…Providers who care for women with early pregnancy loss have the option to send products of conception for chromosome analysis. If abnormal, these genetic results can provide an explanation for a pregnancy loss, which has been shown to correlate with lower rates of anxiety and self-blame following a pregnancy loss (8) However, data show that a euploid miscarriage is a risk factor for subsequent euploid miscarriage, suggesting maternal rather than chromosomal factors are the cause for spontaneous miscarriage and further evaluation should be performed (9).…”

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confidence: 99%

The association of euploid miscarriage with obesity

2020

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Objective: To determine whether the frequency of euploid miscarriage is increased in obese women with early pregnancy loss. Design: Retrospective cohort study. Setting: Academic medical center. Patient(s): A total of 2,620 women with cytogenetic analysis results from products of conception after a pregnancy loss <20 weeks gestation from 2006-2018. Intervention(s): None. Main Outcome Measure(s): Frequency of euploid miscarriage was compared in obese (body mass index [BMI] R30 kg/m 2) versus nonobese (BMI <30 kg/m 2) patients. Result(s): A total of 2,620 women with a mean (AE standard deviation) age at time of loss of 34.9 years (AE 4.9) and mean (AE standard deviation) BMI of 25.3 kg/m 2 (AE5.5) were included in the final analysis. After adjusting for age and race, obese women were 56% more likely to have a euploid pregnancy loss compared with nonobese women (odds ratio 1.56; 95% confidence interval 1.32-1.92). Within the cohort, 63.8% of the losses were aneuploid, of which 41% were trisomies, 8% were monosomies, and 7% were polyploidies. Of the euploid losses, 50.1% were 46,XX and 49.9% were 46,XY, which suggests that the rate of maternal cell contamination was low. Conclusion(s): Obese women have an increased frequency of euploid miscarriage when compared with nonobese women. (Fertil Steril Rep Ò 2020;1:142-8. Ó2020 by American Society for Reproductive Medicine.

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Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases

Abstract: Approximately, 50% of first-trimester miscarriages have chromosomal abnormalities which can be detected by conventional cytogenetic analysis. The presence of chromosomal abnormality may explain the cause of miscarriage, improving the reproductive counseling and planning.

Cited by 77 publications

References 39 publications

On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update

On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update

Prenatal diagnosis of fetal chromosomal abnormalities among 2318 pregnant women with indications in southern China: a retrospective study

The association of euploid miscarriage with obesity

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