Should we ‘open the kimono’ to release the results of rare autosomal aneuploidies following noninvasive prenatal whole genome sequencing?

Bianchi, Diana W.

doi:10.1002/pd.4993

Cited by 14 publications

(8 citation statements)

References 18 publications

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“…There are no clearly delineated professional society‐endorsed steps for optimal patient management and the American College of Medical Genetics advises specifically against screening for RATs. The question of whether the benefits of providing genome‐wide screening exceed the harms, therefore, remains unanswered.…”

Section: Discussionmentioning

confidence: 99%

Rare autosomal trisomies: comparison of detection through cell‐free DNA analysis and direct chromosome preparation of chorionic villus samples

Benn

Malvestiti²,

Grimi³

et al. 2019

Ultrasound in Obstet & Gyne

109

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Objective Direct chromosome preparations of chorionic villus samples (CVS) and cell‐free DNA (cfDNA) testing both involve analysis of the trophoblastic cell lineage. The aim of this study was to compare the spectrum of rare autosomal trisomies (RATs) detected by these two approaches and assess the available information on their clinical significance. Methods Data from 10 reports on genome‐wide cfDNA testing were pooled to determine which chromosomes were most frequently involved in RAT‐positive cases, and pregnancy outcome information was reviewed. CVS information was obtained from an updated database of 76 102 consecutive CVS analyses performed over a period of 18 years at TOMA laboratory, in which trophoblastic and mesenchymal layers were analyzed and amniotic fluid cell analysis was recommended for RAT‐positive cases. Chromosomes involved and presence of confined placental mosaicism, true fetal mosaicism and uniparental disomy (UPD) for imprinted chromosomes were assessed. Also evaluated were the frequency and types of RATs in products of conception. Results RATs were present in 634 of 196 662 (0.32%) cfDNA samples and 237 of 57 539 (0.41%) CVS trophoblast samples (P < 0.01). The frequency of RATs varied over 8‐fold between the cfDNA reports. Confirmation of abnormality through amniocentesis was more likely when RATs were ascertained through cfDNA (14 of 151; 9.3%) than through CVS trophoblasts (seven of 237; 3.0%) (P < 0.01). In cfDNA‐ascertained cases, trisomies 15, 16 and 22, which are associated with fetal loss, were identified proportionately more often. Of 151 cases with RAT identified by cfDNA and outcome information available, 41.1% resulted in normal live birth; 27.2% in fetal loss; 7.3% had phenotypic abnormality detected through ultrasound or other follow‐up evaluation; 2.0% had a clinically significant UPD; and 14.6% had fetal growth restriction or low birth weight. All autosomes were involved in trisomies in products of conception; the most common RATs detected were trisomies 16, 22 and 15 with a frequency of > 9% each. Conclusions Although there are strong parallels between RATs ascertained through cfDNA analysis and direct chromosome preparation of CVS, caution is needed in applying conclusions from CVS analysis to cfDNA testing, and vice versa. RATs identified through genome‐wide cfDNA tests have uncertain risks for fetal loss, growth restriction or fetal abnormality. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

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Section: Discussionmentioning

confidence: 99%

Rare autosomal trisomies: comparison of detection through cell‐free DNA analysis and direct chromosome preparation of chorionic villus samples

Benn

Malvestiti²,

Grimi³

et al. 2019

Ultrasound in Obstet & Gyne

109

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“…However, the authors start from the assumption that the outcome data from chorionic villus sampling (CVS) positive cases should be the same for the cases ascertained by genome‐wide cfDNA screening, which is not necessarily correct. This was properly pointed out by Prof. Bianchi in the ‘open the kimono’ commentary, and may explain the difference in confined placental mosaicism (CPM) rate between our study and CVS data.…”

mentioning

confidence: 48%

Author's reply to Grati and Benn

Fiorentino¹,

Bono²,

Pizzuti³

et al. 2017

Prenatal Diagnosis

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“…Weighing the benefits and harms of disclosing the results of expanded NIPT remains crucial. 23 In liveborn, demised, and terminated abnormal foetuses, the distribution of chromosomal anomalies detectable by karyotyping is 53% for trisomy 21, 18% for trisomies 18 or 13, 13% for SCA, and 17% for RAT and structural anomalies. 26 Microdeletions and microduplications can occur in all pregnancies and increase the risk of an unidentified genomic abnormality by 1%.…”

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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Should we ‘open the kimono’ to release the results of rare autosomal aneuploidies following noninvasive prenatal whole genome sequencing?

Cited by 14 publications

References 18 publications

Rare autosomal trisomies: comparison of detection through cell‐free DNA analysis and direct chromosome preparation of chorionic villus samples

Rare autosomal trisomies: comparison of detection through cell‐free DNA analysis and direct chromosome preparation of chorionic villus samples

Author's reply to Grati and Benn

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

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