A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies

Ridnõi, Konstantin; Muru, Kai; Keernik, Maria; Pajusalu, Sander; Ustav, Eva-Liina; Tammur, Pille; Mölter-Väär, Triin; Kahre, Tiina; Šamarina, Ustina; Asser, Karin; Szirko, Ferenc; Reimand, Tiia; Õunap, Katrin

doi:10.1002/mgg3.1787

Cited by 3 publications

(1 citation statement)

References 31 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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A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies

Ridnõi

Muru

Keernik

et al. 2021

Molec Gen & Gen Med

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Cell‑free fetal DNA at 11‑13 weeks of gestation is not altered in complicated pregnancies

Koukou,

Panteris,

Manolakos

et al. 2024

Biomed Rep

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Non-invasive maternal cell-free fetal DNA (cffDNA) is a promising biomarker for screening common genetic syndromes. Alterations in the expression levels of cffDNA in the maternal circulation have been demonstrated in abnormal pregnancies. However, the results are conflicting. The present study aimed to investigate whether cffDNA levels are associated with pregnancy complications. The study group comprised pregnant women who presented with pregnancy complications, such as preterm birth, gestational hypertension, intrauterine growth retardation, gestational diabetes, polyhydramnios, oligohydramnios, vaginal bleeding and placental abruption. The control group comprised women who had a normal pregnancy course. Blood samples were obtained from 500 pregnant women between 11-13 weeks of gestation. cffDNA was amplified, sequenced and analyzed using the next-generation aneuploidy test of a Panorama-Natera kit. Nuchal translucency (NT) thickness as well as pregnancy associated plasma protein-A (PAPP-A) and β-human chorionic gonadotropin (β-hCG) levels were also assessed. Statistical analysis was performed in 494 out of the 500 samples collected with SPSS v.26 using non-parametric methods. The parameters were normalized by the multiples of median (MoM) method. The expression levels of PAPP-A, β-hCG, and the NT mean MoM values were significantly different between the study and control groups (P=0.005, P<0.001 and P=0.007, respectively). However, the expression levels of cffDNA and the mean MoM values were not significantly different between these two groups (P=0.687). The findings of the present study support the conclusion that cffDNA expression is not altered in a series of pregnancy complications. The prognostic value of cffDNA in predicting adverse pregnancy outcomes requires further investigation.

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A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies

Abstract: This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmerc ial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

Cited by 3 publications

References 31 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

A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies

Cell‑free fetal DNA at 11‑13 weeks of gestation is not altered in complicated pregnancies

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