Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

Wan, Jun-Hui; Li, Ru; Zhang, Yongling; Jing, Xiangyi; Yu, Qiuxia; Li, Fatao; Li, Yan; Zhang, Lína; Yi, Cuixing; Li, Jian; Li, Dong-Zhi; Liao, Can

doi:10.1002/pd.5340

Cited by 28 publications

(30 citation statements)

References 27 publications

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“…Based on 10 genome-wide studies [10][11][12][13][14][15][16][17][18][19] , the weighted average rate of positive results for RATs (Table 1) was 0.32% (634/196 662; 95% CI, 0.30-0.36%). The frequency of RATs varied by more than 8-fold between the studies, ranging from 0.12% (95% CI, 0.08-0.17%) 17 to 1.03% (95% CI, 0.69-1.53%) 15 .…”

Section: Cfdna Detection Of Ratsmentioning

confidence: 99%

“…AMA, advanced maternal age; US, ultrasound. found in eight of 10 studies 10,11,[13][14][15][17][18][19] , in which the individual chromosomes were specified (Table S1). The most commonly represented abnormalities were trisomies 7, 15, 16 and 22 (each ≥ 10%).…”

Section: Cfdna Detection Of Ratsmentioning

confidence: 99%

“…The most commonly represented abnormalities were trisomies 7, 15, 16 and 22 (each ≥ 10%). Six studies [13][14][15][17][18][19] provided information on the outcome of pregnancies in which a RAT was identified by cfDNA testing. This dataset included 71 893 women who underwent cfDNA testing.…”

Section: Cfdna Detection Of Ratsmentioning

confidence: 99%

“…The two main types of methods for prenatal cfDNA testing are targeted and genome-wide. Targeted approaches are based on the capture and amplification or enrichment of specific cfDNA fragments from chromosomes or regions of clinical interest, usually chromosomes 21,18,13, sex chromosomes and a select set of regions involved in microdeletion syndromes [4][5][6] . Genome-wide tests are based on massively parallel shotgun sequencing of maternal plasma cfDNA fragments 7,8 and have been applied to detect additional chromosome regions larger than 7-10 Mb.…”

Section: Introductionmentioning

confidence: 99%

“…This includes mosaic and non-mosaic rare autosomal trisomies (RATs), which are defined as any autosomal trisomy other than trisomy 21, 18 or 13. Despite scant evidence of clinical utility 9 , some laboratories have introduced genome-wide screening, and clinical decisions are being taken based on the results it provides [10][11][12][13][14][15][16][17][18][19] .…”

Section: Introductionmentioning

confidence: 99%

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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: Cfdna Detection Of Ratsmentioning

confidence: 99%

Section: Cfdna Detection Of Ratsmentioning

confidence: 99%

Section: Cfdna Detection Of Ratsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

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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Comparison of the performance of NIPT and NIPT‐plus for fetal chromosomal aneuploidy and high Z‐score increases the positive predictive value

Liu,

Xu,

Chang

et al. 2024

Intl J Gynecology & Obste

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ObjectiveTo evaluate non‐invasive prenatal testing (NIPT) and expanded non‐invasive prenatal testing (NIPT‐plus) for detecting aneuploidies at different sequencing depths and assess Z‐score accuracy in predicting trisomies 21, 18, 13, 45X, and 47XXX.MethodsPregnancies with positive NIPT or NIPT‐plus results detected at the prenatal diagnosis center of Nanfang Hospital were included in this retrospective study, between January 2017 and December 2022. Invasive prenatal diagnostic results were collected. Logistic regression analyses were used to study the relationship between Z‐score and positive predictive value (PPV). Optimal cut‐off values were obtained based on receiver operating characteristic analysis, and PPVs were calculated in different groups.ResultsWe evaluated 1348 pregnant women with positive results, including 930 reported by NIPT and 418 reported by NIPT‐plus. NIPT reported significantly more rare chromosomal aneuploidies (RCAs), and NIPT‐plus had a significantly higher PPV for trisomy 21 (T21). Logistic regression analyses showed a significant association (P < 0.001) between Z‐score and PPVs for T21 and trisomy 18 (T18). A linear relationship was observed between fetal fraction (FF) and Z‐values in the true positive cases of T21 and T18.The high Z‐score group had significantly higher PPVs than the low Z‐score group for T21, T18, trisomy 13, and 47XXX, but not for 45X.ConclusionThe Z‐score is helpful in assessing NIPT or NIPT‐plus results. Therefore, we suggest including the Z‐score and FF in the results. By combining the Z‐score, FF, and maternal age, clinicians can interpret NIPT results more accurately and improve personal counsel to reduce patients' anxiety.

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In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018

et al. 2019

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Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

Cited by 28 publications

References 27 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

Comparison of the performance of NIPT and NIPT‐plus for fetal chromosomal aneuploidy and high Z‐score increases the positive predictive value

In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018

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