Chromosomal aberrations and <scp>CNV</scp>s in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twins

Zhang, Yi; Huang, Liwu; Huang, Xuan; He, Zhiming; Lin, Shaobin; Wang, Ye; Li, Lin; Luo, Yang; Fang, Qun

doi:10.1002/pd.5238

Cited by 10 publications

(6 citation statements)

References 36 publications

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“…Group B: A total of 44 were secondarily excluded from quantitative analysis. Of these, 34 dealt with specific single-district malformations , 2 included postnatal cases [120,121], 3 dealt only with cases from fetuses' demise or livebirths [122][123][124], 3 did not provide a proper distinction between US features [125][126][127], 1 dealt familial cases of heart disease [128], and 1 concerned twin pregnancies [129]. A total of 71 papers were eligible for quantitative analysis [6,: 44 were retrospective studies, 12 were prospective, and 15 did not declare pro-or retrospectivity.…”

Section: Chromosomal Microarraymentioning

confidence: 99%

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

et al. 2022

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Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for cytogenetics and molecular testing. “Structural anomalies” include non-transient anatomic alterations. “Soft markers” are often transient minor ultrasound findings. Anomalies not fitting these definitions are categorized as “dynamic”. This meta-analysis aims to evaluate the diagnostic yield and the rates of variants of uncertain significance (VUSs) in fetuses undergoing molecular testing (chromosomal microarray (CMA), exome sequencing (ES), genome sequencing (WGS)) due to ultrasound findings. The CMA diagnostic yield was 2.15% in single soft markers (vs. 0.79% baseline risk), 3.44% in multiple soft markers, 3.66% in single structural anomalies and 8.57% in multiple structural anomalies. Rates for specific subcategories vary significantly. ES showed a diagnostic rate of 19.47%, reaching 27.47% in multiple structural anomalies. WGS data did not allow meta-analysis. In fetal structural anomalies, CMA is a first-tier test, but should be integrated with karyotype and parental segregations. In this class of fetuses, ES presents a very high incremental yield, with a significant VUSs burden, so we encourage its use in selected cases. Soft markers present heterogeneous CMA results from each other, some of them with risks comparable to structural anomalies, and would benefit from molecular analysis. The diagnostic rate of multiple soft markers poses a solid indication to CMA.

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Section: Chromosomal Microarraymentioning

confidence: 99%

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

et al. 2022

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“…5,7 Among all twin gestations, the incidence of malformations appears to be greater in monozygotic than in dizygotic twins and is more likely to occur in only one twin. [1][2][3][4] The twins in the present study represent a deviation from this paradigm.…”

Section: Discussionmentioning

confidence: 93%

“…Regardless of the method of conception, however, twin gestations themselves have been associated with an increased risk of congenital malformations. [1][2][3][4] We present the case of dizygotic twins conceived via in vitro fertilisation both with Tetralogy of Fallot and additional cardiac and extracardiac malformations.…”

mentioning

confidence: 99%

Rare occurrence of Tetralogy of Fallot in dizygotic twins conceived via in vitro fertilisation

2019

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Section: Methodsmentioning

confidence: 99%

“…Some of the cases in this study have been included in studies published previously from our center. Specifically, 89 pairs of twins (29 MC and 60 dichorionic (DC)), reported in the study of Zhang et al 20 that focused on twins with cardiovascular anomalies, were included in our cohort. Eight pairs of twins with discordant karyotypes, reported in the study of Shi et al 21 on aneuploidy in twins, were included in the present study and 215 twin pairs overlapped between the two study populations.…”

Section: Subjectsmentioning

confidence: 99%

Chromosomal abnormalities detected by karyotyping and microarray analysis in twins with structural anomalies

Huang

et al. 2020

Ultrasound in Obstet & Gyne

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Objectives To evaluate the incidence and types of chromosomal abnormalities detected in twins with structural anomalies and compare their distribution according to chorionicity and amnionicity and by structural‐anomaly type. The added value of chromosomal microarray analysis (CMA) over conventional karyotyping in twins was also estimated. Methods This was a single‐center, retrospective analysis of 534 twin pregnancies seen over an 11‐year period, in which one or both fetuses were diagnosed with congenital structural anomalies on ultrasound. The ultrasound findings and invasive prenatal diagnostic results were reviewed. Twin pregnancies were categorized as monochorionic monoamniotic (MCMA), monochorionic diamniotic (MCDA) or dichorionic diamniotic (DCDA). Chromosomal abnormalities detected by G‐banding karyotyping and/or CMA were analyzed by chorionicity and amnionicity and by structural‐anomaly type. Results The 534 twin pairs analyzed comprised 25 pairs of MCMA, 112 pairs of MCDA and 397 pairs of DCDA twins. Of the 549 fetuses affected by structural anomalies, 432 (78.7%) underwent invasive prenatal testing and cytogenetic results were obtained. The incidence of overall chromosomal abnormalities in the DCDA fetuses (25.4%) was higher than that in the MCMA (3.7%) and MCDA (15.3%) fetuses. The incidence of aneuploidy was significantly higher in the DCDA group (22.8%) than in the MCMA (0.0%) and MCDA (12.4%) groups. The incidence of chromosomal abnormalities detected in fetuses, with anomalies of the cardiovascular, faciocervical, musculoskeletal, genitourinary and gastrointestinal systems, was higher in the DCDA group than in the MCDA group. In both the DCDA and MCDA groups, hydrops fetalis was associated with the highest incidence of chromosomal abnormality; of these fetuses, 67.6% had Turner syndrome (45,X). Pathogenic copy‐number variations (CNVs) undetectable by karyotyping were identified by CMA in five (2.0%; 95% CI, 0.3–3.7%) DCDA fetuses. No pathogenic CNVs were found in MCMA and MCDA twins. Conclusions Dichorionic twins with structural anomalies have a higher risk of chromosomal abnormalities, especially aneuploidies, than do monochorionic twins. The incremental diagnostic yield of CMA over karyotyping seems to be lower (2.0%) in twins than that reported in singleton pregnancy. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

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Chromosomal aberrations and CNVs in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twins

Abstract: Most of cardiovascular anomalies were identified in one fetus of a twin pair no matter in MCDA or DCDA twin. Primary cardiac structural defects were more common in DCDA group. Monozygotic twins may have discordant phenotypes, karyotypes, and CNVs between 2 fetuses of each pair.

Cited by 10 publications

References 36 publications

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

Rare occurrence of Tetralogy of Fallot in dizygotic twins conceived via in vitro fertilisation

Chromosomal abnormalities detected by karyotyping and microarray analysis in twins with structural anomalies

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