MCDA twins with discordant malformations: submicroscopic chromosomal anomalies detected by chromosomal microarray analysis and clinical outcomes

Ruan, Peng; Zhou, You; Xie, Hong‐Ning; Zheng, Jin; Xie, Yuan; Yang, Jianbo

doi:10.1002/pd.4859

Cited by 14 publications

(9 citation statements)

References 28 publications

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“…We found aneuploidies confined to the abnormal twin in up to 9% of the cases, similar to Peng et al with 7.5% (9/119) of genotypic discordance. 20 Increased NT and CRL discordance of over 10 mm preceded the diagnosis of a structural malformations in 20% and in 33.3% of the cases with a normal karyotype, consistent with the existing literature. 21,22 As newer molecular techniques have evolved, it is highly likely that some of the seemingly normal karyotypes would likely have had an abnormal whole exome sequencing result if they were done in cases with DCA.…”

Section: Discussionsupporting

confidence: 88%

Management of monochorionic twins discordant for structural fetal anomalies

et al. 2020

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Objective: To review the perinatal management and outcomes of monochorionic twin pregnancies (MC) discordant for congenital anomalies (DCA). Methods: Retrospective, study of all MC DCA cases referred to our tertiary referral center from 1997 to 2018. We excluded cases complicated with twin-to-twin transfusion syndrome, twin anemia-polycythemia sequence, twin reversed arterial perfusion sequence or selective intra-uterine growth restriction. Patients were counseled about the possibility of expectant (EM) or interventional management (selective feticide [SF] or termination of the entire pregnancy [TOP]). Results: One hundred eight of 4157 (2.6%) MC pregnancies were discordant for anomaly. Fifty two of 108 n(48.1%) underwent SF at a mean gestational age of 31.4 ± 5.9 weeks while 52/108(48.1%) opted for EM. Livebirth rate of the healthy co-twin was similar between the two groups (SF: 88.5% vs EM: 82.7%, P = .87). In the SF group, six healthy co-twins (6/52, 11.5%) died 5.3 ± 3.1 days after SF of the abnormal co-twin. In the EM group, in-utero demise of the abnormal twin occurred in 9 of 52 (17.3%) of the cases and was followed by the spontaneous demise of the healthy co-twin in 4 of 9 (44.4%) of these cases. Conclusion: Selective feticide does not seem to significantly alter survival of the healthy co-twin compared to EM.

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Section: Discussionsupporting

confidence: 88%

Management of monochorionic twins discordant for structural fetal anomalies

et al. 2020

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Section: Discussionmentioning

confidence: 99%

“…In this study, however, the incidence of discordant karyotype was higher (10.0%) in MCDA twins with structural anomaly as the single indication for prenatal diagnosis. Peng et al 22 reported that discrepancies in chromosomal aberrations and CNVs were identified in 9.2% (11/119) of MCDA twin pairs with discordant anomalies, including those complicated with TTTS and sIUGR. These findings demonstrate that amniocentesis of both sacs is necessary for MCDA pregnancies, especially those complicated by hydrops fetalis or discordant anomalies, because parents can opt for selective reduction instead of termination of the entire pregnancy when one fetus may be healthy.…”

Section: Discussionmentioning

confidence: 99%

“…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. Forty-seven cases in the study of Peng et al 22 , evaluating chromosomal anomalies detected in MCDA twins with discordant malformations, were also included in our cohort.…”

Section: Subjectsmentioning

confidence: 99%

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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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“…The pathophysiological mechanism involves the development of a discrepancy in placental blood flow between the two fetuses, due to the presence of placental vascular anastomoses, one being the donor and the other the recipient. The number and type of anastomoses (arterial-to-arterial, venous-to-venous, or arterial-to-venous) determine the severity of the case (5,6).…”

Section: Introductionmentioning

confidence: 99%

Placental fusion in a dichorionic-diamniotic IVF twin pregnancy – case presentation

Calomfirescu-Avramescu¹,

Demetrian²,

Grecu³

et al. 2020

Ro J Med Pract.

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Twin pregnancies have an increased incidence in recent years, especially due to the development of assisted human reproduction techniques. Although most of the in vitro fertilization pregnancies are dichorionic tasks, exceptions may also occur following the placental fusion process. Twin pregnancies in which the fusion process occurs associate the complications of monochorial pregnancies such as prematurity, growth discordance between the twins, twin-to-twin transfusion syndrome, twin reversed arterial perfusion, with higher perinatal mortality and morbidity. In recent years, most studies have focused on correlations between the macro and microscopic aspects of the placenta and the associated complications.

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MCDA twins with discordant malformations: submicroscopic chromosomal anomalies detected by chromosomal microarray analysis and clinical outcomes

Abstract: Large whole chromosome abnormalities are more common between discordant twins rather than smaller CNVs in this study. © 2016 John Wiley & Sons, Ltd.

Cited by 14 publications

References 28 publications

Management of monochorionic twins discordant for structural fetal anomalies

Management of monochorionic twins discordant for structural fetal anomalies

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

Placental fusion in a dichorionic-diamniotic IVF twin pregnancy – case presentation

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