Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies

Soukkhaphone, Bounhome; Lindsay, Carmen; Langlois, Sylvie; Little, Julian; Rousseau, François; Reinharz, Daniel

doi:10.1002/mgg3.1654

Cited by 15 publications

(17 citation statements)

References 36 publications

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“…Application of these results to post‐test counseling may therefore pose challenges 23 . We did not assess accuracy by sequencing the platform, although some evidence does suggest this may impact accuracy of the test 14 . Finally, we did not include studies of multifetal gestations, although reporting of SCA for multifetal gestations was generally not available in the commercial setting during the time period defined in the study selection criteria of this analysis.…”

Section: Discussionmentioning

confidence: 99%

A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy

et al. 2023

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Objectives The aim was to determine the accuracy of cell‐free DNA testing (cfDNA) for detecting sex chromosome aneuploidies (SCA) in singleton pregnancies. Methods A systematic review and meta‐analysis was performed to assess cfDNA accuracy for prenatal detection of 45,X, 47,XXY, 47,XXX and 47,XYY. Inclusion was restricted to studies published between January 2010 and December 2021 reporting both cfDNA and confirmatory diagnostic test results. Results For 45,X, the sensitivity was 98.8% (95%CI 94.6%–100%), specificity 99.4% (95%CI 98.7%–99.9%) and positive predictive value (PPV) 14.5% (95%CI 7.0%–43.8%). For 47,XXY, the sensitivity was 100% (95%CI 99.6%–100%), specificity 100% (95%CI 99.9%–100%) and PPV 97.7% (95%CI 78.6%–100%). For 47,XXX, the sensitivity was 100% (95%CI 96.9%–100%), specificity 99.9% (95%CI 99.7%–100%) and PPV 61.6% (95%CI 37.6%–95.4%). For 47,XYY, the sensitivity was 100% (95%CI 91.3%–100%), specificity 100% (95% CI 100%–100%) and PPV 100% (95%CI 76.5%–100%). All four SCAs had estimated negative predictive values (NPV) exceeding 99.99%, though false negatives were reported. Conclusions This analysis suggests that cfDNA is a reliable screening test for SCA, though both false negatives and false positives were reported. These estimates of test performance are derived from pregnancies at high pretest risk for aneuploidy, limiting the generalisability to average risk pregnancies.

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Section: Discussionmentioning

confidence: 99%

A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy

et al. 2023

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“…Indeed, the diagnosis of SCAs is usually not the primary diagnosis of interest in prenatal genetic testing and, once a SCA is identified, practitioners are faced with genetic counseling regarding the prognosis and treatment of affected fetuses. Knowing that a fetus is affected with an SCA can give the parents a greater awareness of the condition and the clinicians a clear plan to adopt for the healthcare interventions, for instance, fetal echocardiograms to make sure that there are no cardiac abnormalities in fetuses with 45,X (Turner syndrome) [ 31 ] or testosterone supplements earlier on after birth, which can improve the health outcome of affected males [ 32 ]. Pentasomy X is a rare chromosomal abnormality and only five cases prenatally diagnosed have been described until now.…”

Section: Discussionmentioning

confidence: 99%

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

Falco¹,

Suero²,

Savarese³

et al. 2022

Diagnostics

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Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX) and is probably due to a nondisjunction during the meiosis. So far, only five cases prenatally diagnosed were described. The main features in 49,XXXXX karyotype include severe intellectual disability with delayed speech development, short stature, facial dysmorphisms, osseous and articular abnormalities, congenital heart malformations, and skeletal and limb abnormalities. Prenatal diagnosis is often difficult due to the lack of a clear echographic sign like nuchal translucency (NT), and mostly cases were postnatally described. We report the first case of a 49,XXXXX female that was detected by non-invasive prenatal screening (NIPS), quantitative fluorescence polymerase chain reaction (QF-PCR) and a fetal karyotype.

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“…22 Chromosomal anomalies other than the common trisomies, reliable data on DR is not available except for Turner syndrome. 10,22,36,37 Most PPV data published was overestimated because most studies were biased towards a high-risk population with the exception of the TRIDENT-2 study. 10 In the TRIDENT-2 study, the PPVs for RATs and structural anomalies were significantly lower than those in TRIDENT-1 study.…”

Section: Discussionmentioning

confidence: 99%

Knowledge, attitudes, and practices of healthcare professionals working in prenatal diagnosis toward expanded non‐invasive prenatal testing in China

et al. 2021

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Objectives: To investigate the knowledge, attitudes, and practices of healthcare professionals (HCPs) working in prenatal diagnosis toward expanded non-invasive prenatal testing (NIPT) in China. Methods:We conducted a national online survey among HCPs working in prenatal diagnosis, including specialists in prenatal diagnosis and foetal medicine, obstetricians and gynaecologists, nurses in obstetrics and gynaecology, obstetric ultrasound doctors, and technicians in prenatal diagnosis laboratories. A total of 1882 questionnaires were collected, among which 1822 questionnaires met the research criteria and were included in the analysis.Results: More than 99% of all participants opted for NIPT for trisomies 21, 18, and 13. The rates of support for expanded NIPT for sex chromosome aneuploidies, rare autosomal trisomies, microdeletions and microduplications, and single-gene disorders were 93.9%, 88.6%, 89.4%, and 86.8%, respectively. Specialists in prenatal diagnosis and foetal medicine had greater knowledge but were less likely to support expanded NIPT compared to other participants. Knowledge increased with educational level, whereas support for expanded NIPT decreased with educational level.Conclusions: More than 80% of HCPs working in prenatal diagnosis in China expressed support for expanding NIPT to conditions other than common trisomies.The degree of knowledge was negatively associated with the rate of support. Key points What's already known about this topic?� Non-invasive prenatal testing (NIPT) is highly effective in detecting trisomies 21, 18, and 13 � Expanding NIPT to screening for conditions other than trisomies 21, 18, and 13 remains controversial What does this study add? � More than 80% of healthcare professionals working in prenatal diagnosis in China expressed a preference for expanding NIPT to conditions other than trisomies 21, 18, and 13 � The degree of knowledge was found to be negatively associated with support for the expanded NIPT

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Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-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 15 publications

References 36 publications

A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy

A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

Knowledge, attitudes, and practices of healthcare professionals working in prenatal diagnosis toward expanded non‐invasive prenatal testing in China

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