A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center

Luo, Yanmei; Hu, Huamei; Jiang, Luping; Ma, Yanlin; Zhang, Rong; Xu, Jie; Pan, Yan; Yang, Lei; Yao, Hong; Liang, Zhiqing

doi:10.1016/j.ejmg.2020.104001

Cited by 23 publications

(26 citation statements)

References 45 publications

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“…T7 was detected most frequently, followed by T8, T10, and T16, similar to those reported in the literature (T7, n = 6) [ 23 ], the overall PPV for other chromosomal aneuploidy was 12.50%, which was significantly lower than PPV for autosomal aneuploidy and sex chromosome aneuploidy. The high incidence of false positives may be due to the very low incidence of these rare chromosomal trisomies, as well as the possibility of uniparental disomy (UPD) due to the "trisomy rescue mechanism" during embryogenesis, CPM, maternal cell contamination, maternal tumors, and other factors [ 24 , 25 ]. The three true-positive samples were T2, T9 and T16, one each.…”

Section: Discussionmentioning

confidence: 99%

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Chaohong²,

Tang³

et al. 2021

Mol Cytogenet

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Objective To assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy, copy number variation (CNV), and to provide further data for clinical application of NIPT. Materials and methods 25,517 pregnant women who underwent NIPT testing in Anhui Province Maternity and Child Health Hospital from September 2019 to September 2020 were selected, and samples with high-risk test results were subjected to karyotype analysis for comparison by using amniotic fluid, with some samples subjected to further validation by chromosomal microarray analysis, and followed up for pregnancy outcome. Results A total of 25,517 pregnant women who received NIPT, 25,502 cases were tested successfully, and 294 high-risk samples (1.15%) were detected, there were 96 true positive samples, 117 false positive samples and 81 cases were refused further diagnosis. Samples with high risk of autosomal aneuploidy were detected in 71 cases (0.28%), and 51 cases were confirmed, including: trisomy 21 (T21) in 44 cases, trisomy 18 (T18) in 5 cases, and trisomy 13 (T13) in 2 cases; the positive predictive value (PPV) was 91.67%, 45.45%, and 33.33%, respectively, and the negative predictive value was 100%, the false positive rate (FPR) was 0.02%, 0.02%, and 0.02%, respectively.13 samples with high risk of mosaic trisomies 21, 18, and 13 were detected, and 1 case of T21mos was confirmed with a PPV of 8.33%. Samples with high risk of SCA were detected in 72 cases (0.28%), and the diagnosis was confirmed in 23 cases, with a PPV of 41.07% and a FPR of 0.13%. These included 3 cases of 45,X, 6 cases of 47,XXY, 8 cases of 47,XXX and 6 cases of 47,XYY, with PPVs of 12.00%, 50.00%, 72.73%, and 75.00%, respectively, and false-positive rates of 0.09%, 0.02%, 0.01% and 0.01% respectively. Samples with high risk of CNV were detected in 104 cases (0.41%) and confirmed in 18 cases, with a PPV of 32.14% and a FPR of 0.15%. Samples with high risk of other chromosomal aneuploidy were detected in 34 cases (0.13%), and the diagnosis was confirmed in 3 cases, which were T2, T9, and T16 respectively. The overall PPV for other chromosome aneuploidy was 12.50%, with a FPR of 0.08%. Conclusion NIPT is indicated for trisomies 21, 18 and 13 screening, especially for T21. It also has some certain reference value for SCA and CNV, but is not recommended for screening of other chromosomal aneuploidy.

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Section: Discussionmentioning

confidence: 99%

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Chaohong²,

Tang³

et al. 2021

Mol Cytogenet

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“…Twelve studies solely evaluated the genome-wide detection of CNVs. Most of them screened for previously undiagnosed fetal CNVs [ 4 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 ], but two studies obtained samples with known CNVs and retrospectively conducted NIPT analysis [ 39 , 40 ].…”

Section: Resultsmentioning

confidence: 99%

“…Only one study explicitly analyzed twin pregnancies [ 13 ]. The most common exclusion criteria in these studies were known parental chromosomal abnormalities, multiple pregnancies, known maternal malignancy, the mother receiving an allogeneic blood transfusion, organ transplantation surgery, stem cell therapy, or immunotherapy, as well as an egg donor or surrogate pregnancies [ 10 , 13 , 34 , 36 , 37 , 38 ]. Li et al also excluded samples whose transportation to the laboratory took more than 48 h, those with visible hemolysis, and a fetal fraction of less than 3% [ 40 ].…”

Section: Resultsmentioning

confidence: 99%

“…Also, two such studies did not take into consideration differences between the testing platforms used for the analysis of samples when calculating overall statistics [ 16 , 18 ]. Furthermore, some of the researchers did not have the access to the clinical data to assess possible explanations for false-positive results such as the presence of a vanished twin’s cfDNA in the maternal plasma, placental mosaicism, maternal chromosomal abnormalities, or maternal neoplastic conditions [ 16 , 18 , 22 , 23 , 36 ]. Studies that used artificial samples did not take into consideration real case scenario causes of inconsistent results when expressing sensitivity, specificity, and PPV [ 11 , 24 , 25 ].…”

Section: Resultsmentioning

confidence: 99%

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Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review

Zaninović

Bašković

Ježek

et al. 2022

JCM

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Valid data on prenatal cell-free DNA-based screening tests for copy number variations and microdeletions are still insufficient. We aimed to compare different methodological approaches concerning the achieved diagnostic accuracy measurements and positive predictive values. For this systematic review, we searched the Scopus and PubMed databases and backward citations for studies published between 2013 and 4 February 2022 and included articles reporting the analytical and clinical performance of cfDNA screening tests for CNVs and microdeletions. Of the 1810 articles identified, 32 met the criteria. The reported sensitivity of the applied tests ranged from 20% to 100%, the specificity from 81.62% to 100%, and the PPV from 3% to 100% for cases with diagnostic or clinical follow-up information. No confirmatory analysis was available in the majority of cases with negative screening results, and, therefore, the NPVs could not be determined. NIPT for CNVs and microdeletions should be used with caution and any developments regarding new technologies should undergo strict evaluation before their implementation into clinical practice. Indications for testing should be in correlation with the application guidelines issued by international organizations in the field of prenatal diagnostics.

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“…They comprise a small portion of all prenatal tests, and, for the most part, are limited to pregnancies where the couple has been identified at higher risk due to family history, or carrier screening for monogenic disorders. Of course, if a woman has had a positive aneuploidy screen and then undergoes a diagnostic test, the fetus may incidentally be tested for a number of conditions beyond aneuploidy [14]. But it was the positive aneuploidy screen that led to the additional diagnostic testing to begin with.…”

Section: Introductionmentioning

confidence: 99%

Prenatal Testing – What Is It Good For? A Review and Critique

Resta¹

2021

obm genet

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The goals of prenatal testing remain controversial and reflect competing interests of public health, patient rights, disability activists, scholars, feminist critics, commercial laboratories, judiciary/legislative trends, and medical science. This paper reviews and critiques the most common justifications of prenatal testing for fetal aneuploidy that have been put forth over the half century of its existence: reducing the medical and economic burden to society of genetic disease through selective abortion, allowing parents to avoid raising a child with disabilities, preventing the suffering associated with chromosomal and genetic disorders, emotional reassurance about the health of the baby, and medical and emotional preparation for the birth of a baby with a disability. Each of these goals has problematic aspects, as do some of the criticisms of these goals. The most striking shortcoming of the justifications for prenatal testing is a dearth of research about potential medical, psychological, or adaptational benefits of prenatal testing, especially for aneuploidy, for babies and families, beyond the option of pregnancy termination.

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A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center

Cited by 23 publications

References 45 publications

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review

Prenatal Testing – What Is It Good For? A Review and Critique

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