Added value of chromosomal microarray analysis over karyotyping in early pregnancy loss: systematic review and meta‐analysis

Pauta, Montse; Grande, Maribel; Rodríguez‐Revenga, Laia; Kolomietz, Elena; Borrell, Antoni

doi:10.1002/uog.18929

Cited by 46 publications

(65 citation statements)

References 42 publications

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“…While only a few studies have reported the added value of CMA over conventional karyotyping in stillbirth, there have been many reported series in miscarriage. That review included 5507 early gestational losses from 23 studies, and demonstrated a 27% increase in test success rate of CMA over karyotyping (68% to 95%), a value greater than the increased success rate observed in the current meta‐analysis (75% to 90%). Although a statistical comparison is not possible, the fact that the observed rate of informative results of CMA in stillbirth was slightly higher compared with that in miscarriage (95% vs 90%), while the reverse was true for karyotyping (68% vs 75%), appears to be of limited clinical relevance.…”

Section: Discussionmentioning

confidence: 76%

“…Our group recently reported an analogous systematic review and meta‐analysis on the added value of CMA over karyotyping in gestational loss < 20 weeks of gestation. While only a few studies have reported the added value of CMA over conventional karyotyping in stillbirth, there have been many reported series in miscarriage.…”

Section: Discussionmentioning

confidence: 99%

“…Reddy (2012) 10 Reddy (2012) 10 Sahlin (2014) 45 Sahlin (2014) 45 Kooper (2014) 42 Kooper (2014) 42 Rosenfeld (2015) 44 Rosenfeld (2015) 44 Parchem (2018) Reddy (2012) 10 Sahlin (2014) 45 Sahlin (2014) 45 Kooper (2014) 42 Kooper (2014) 42 Rosenfeld (2015) 44 Rosenfeld (2015) 44 Parchem (2018) karyotyping in gestational loss < 20 weeks of gestation 52 . While only a few studies have reported the added value of CMA over conventional karyotyping in stillbirth, there have been many reported series in miscarriage.…”

Section: Structurally Normalmentioning

confidence: 99%

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Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work‐up: systematic review and meta‐analysis

Martinez‐Portilla

Pauta

Hawkins-Villarreal

et al. 2019

Ultrasound in Obstet & Gyne

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Objective To assess the added value of chromosomal microarray analysis (CMA) over conventional karyotyping to assess the genetic causes in stillbirth. Methods To identify relevant studies, published in English or Spanish and without publication time restrictions, we performed a systematic search of PubMed, SCOPUS and ISI Web of Science databases, The Cochrane Library and the PROSPERO register of systematic reviews, for case series of fetal loss ≥ 20 weeks of gestation, with normal or suspected normal karyotype, undergoing CMA and with at least five subjects analyzed. To investigate quality, two reviewers evaluated independently the risk of bias using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS‐2) tool. For the meta‐analysis, the incremental yield of CMA over karyotyping was assessed by single‐proportion analysis using a random‐effects model (weighting by inverse variance). We assessed heterogeneity between studies and performed a sensitivity analysis and a subgroup analysis of structurally abnormal (malformed or growth‐restricted) and normal fetuses. Results Included in the meta‐analysis were seven studies involving 903 stillborn fetuses which had normal karyotype. The test success rate achieved by conventional cytogenetic analysis was 75%, while that for CMA was 90%. The incremental yield of CMA over conventional karyotyping based on the random‐effects model was 4% (95% CI, 3–5%) for pathogenic copy‐number variants (pCNVs) and 8% (95% CI, 4–17%) for variants of unknown significance. Subgroup analysis showed a 6% (95% CI, 4–10%) incremental yield of CMA for pCNVs in structurally abnormal fetuses and 3% (95% CI, 1–5%) incremental yield for those in structurally normal fetuses. The pCNV found most commonly was del22q11.21. Conclusions CMA, incorporated into the stillbirth work‐up, improves both the test success rate and the detection of genetic anomalies compared with conventional karyotyping. To achieve a genetic diagnosis in stillbirth is particularly relevant for the purpose of counseling regarding future pregnancies. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

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Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Section: Structurally Normalmentioning

confidence: 99%

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Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work‐up: systematic review and meta‐analysis

Martinez‐Portilla

Pauta

Hawkins-Villarreal

et al. 2019

Ultrasound in Obstet & Gyne

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“…Another reason that karyotyping the products of conception is usually discouraged is the low success rate and high risk of maternal contamination. A recent meta‐analysis quoted a success rate for karyotyping of 68% in reported series, and maternal cell contamination has been shown to account for 22% of samples on average. In our center, we offer routinely chorionic villus sampling before evacuation of the uterus, with analysis by both short‐ and long‐term cultures.…”

Section: Initially Targeting Down Syndrome and Spina Bifidamentioning

confidence: 99%

A new comprehensive paradigm for prenatal diagnosis: seeing the forest through the trees

Borrell

2018

Ultrasound in Obstet & Gyne

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“…At present, the advantages of CMA in PND are gradually presented with the rapid development of chip technology. CMA has the ability to disclose a wide range of chromosomal abnormalities with length from 50 kb to 100 kb, which produces 100 times better resolution than karyotyping [11]. More and more evidence has indicated that CMA can improve the diagnostic accuracy by approximately 15-20% over that of karyotyping when applied for the evaluation of fetuses with unexplained developmental delay, mental retardation, and autism [12].…”

Section: Introductionmentioning

confidence: 99%

Diagnostic accuracy and value of chromosomal microarray analysis for chromosomal abnormalities in prenatal detection: a prospective clinical study

Huang

Wang

Zhang

et al. 2020

Preprint

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Background Chromosomal microarray analysis (CMA) has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. The aim of this study was to compare the accuracy and diagnostic value of CMA and karyotyping on chromosomal abnormalities in Fujian province of South China. Methods In the study, 410 samples were obtained from pregnant women between March 2015 and December 2016, including 3 villus (0.73%, 3/410), 296 amniotic fluid (72.20%, 296/410), and 111 umbilical cord blood (27.07%, 111/410). Each sample was screening for chromosomal abnormalities by both using CMA and karyotyping. Results The success rates of CMA and karyotyping were 100% (410/410) and 99.27% (407/410), respectively. 61 (14.88%, 61/410) samples were presented with chromosomal abnormalities using CMA, whereas 47 (11.46%, 47/410) samples were shown with chromosomal abnormalities using karyotyping. 31 (7.56%, 31/410) samples with normal karyotypes were found to have chromosomal abnormalities using CMA. Receiver operating characteristic (ROC) analysis showed that the area under the curve (AUC) of CMA on the diagnosis of chromosomal abnormalities was 0.93, with 90.68% sensitivity and 94.40% specificity. The AUC of karyotyping on the diagnosis of chromosomal abnormalities was 0.90, with 87.56% sensitivity and 91.22% specificity. Conclusions Our data demonstrated that CMA has a better diagnostic value for screening chromosomal abnormalities, especially for pregnant women with normal karyotypes.

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Added value of chromosomal microarray analysis over karyotyping in early pregnancy loss: systematic review and meta‐analysis

Abstract: In comparison with conventional karyotyping, CMA provides a significant increase in test success rate and incremental diagnostic yield in early pregnancy loss. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Cited by 46 publications

References 42 publications

Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work‐up: systematic review and meta‐analysis

Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work‐up: systematic review and meta‐analysis

A new comprehensive paradigm for prenatal diagnosis: seeing the forest through the trees

Diagnostic accuracy and value of chromosomal microarray analysis for chromosomal abnormalities in prenatal detection: a prospective clinical study

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