Prenatally diagnosed de novo segmental amplification or deletion by microarray-based comparative genomic hybridization: A retrospective study

Peng, Hsiu-Huei; Lee, Chien-Hong; Su, Shan-Yu; Chen, Kuan‐Ju; Lee, Yen-Chang; You, Shu-Han; Lee, Wen-Fang; Cheng, Po‐Jen

doi:10.1016/j.tjog.2019.07.014

Cited by 4 publications

(2 citation statements)

References 20 publications

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“…Group A: A total of 40 were secondarily excluded from quantitative analysis . Of these, 26 did not allow the scoring of the incremental diagnostic rate of CMA for the classes of fetuses selected for quantitative analysis [17][18][19]21,22,24,26,27,30,[33][34][35][36][37][38][39][40][41]43,45,46,[49][50][51][53][54][55], 6 did not allow proper exclusion of aneuploidies or gross chromosomal imbalances [23,32,42,47,48,52], 3 did not separate pathogenic results from VUSs [20,25,29], 3 used only targeted or low-resolution approaches [16,28,31], and 1 was a validation study on fetal samples with known diagnosis [44]. A total of 31 papers were eligible for quantitative analysis [11,.…”

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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“…(1) A small sample size, thus leading to an insufficient study population; in Taiwan, although amniocentesis for array examination is suggested if there is a clinical indication, the prevalence of prenatal array examination in Taiwan is approximately 6% [24]. Thus, more cases are required to update the current database and demonstrate infantile outcomes.…”

Section: Discussionmentioning

confidence: 99%

Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis

Chu

Shaw

Lee

et al. 2021

Genes

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The copy number variation (CNV) of 15q11.2, an emerging and common condition observed during prenatal counseling, is encompassed by four highly conserved and non-imprinted genes—TUBGCP5, CYFIP1, NIPA1, and NIPA2—which are reportedly related to developmental delays or general behavioral problems. We retrospectively analyzed 1337 samples from genetic amniocentesis for fetal CNV using microarray-based comparative genomic hybridization analysis between January 2014 and December 2019. 15q11.2 CNV showed a prevalence of 1.5% (21/1337). Separately, 0.7% was noted for 15q11.2 BP1–BP2 microdeletion and 0.8% for 15q11.2 microduplication. Compared to the normal array group, the 15q11.2 BP1–BP2 microdeletion group had more cases of neonatal intensive care unit transfer, an Apgar score of <7 at 1 min, and neonatal death. Additionally, the group was symptomatic with developmental delays and had more infantile deaths related to congenital heart disease (CHD). Our study makes a novel contribution to the literature by exploring the differences in the adverse perinatal outcomes and early life conditions between the 15q11.2 CNV and normal array groups. Parent-origin gender-based differences may help in the prognosis of the fetal phenotype; development levels should be followed up in the long term and echocardiography should be offered prenatally and postnatally for the prevention of a delayed diagnosis of CHD.

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Introduce the outstanding research paper awards of the Taiwan Association of Obstetrics and Gynecology and Hsu Chien-Tien Cancer Foundation in 2020

Wang

Chen

Huang

2020

Taiwanese Journal of Obstetrics and Gynecology

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Prenatally diagnosed de novo segmental amplification or deletion by microarray-based comparative genomic hybridization: A retrospective study

Cited by 4 publications

References 20 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

Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis

Introduce the outstanding research paper awards of the Taiwan Association of Obstetrics and Gynecology and Hsu Chien-Tien Cancer Foundation in 2020

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