Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

Liang, Desheng; Cram, David S.; Hu, Ting; Linpeng, Siyuan; Liu, Yingdi; Sun, Hongbo; Zhang, Yu; Tian, Feng; Zhu, Hongmin; Xu, Mengnan; Wang, Hua; Yu, Fuli; Wu, Lingqian

doi:10.1038/s41436-019-0467-4

Cited by 180 publications

(256 citation statements)

References 39 publications

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“…Compared to trisomy 21, NIPT for these two aneuploidies behaves as much lower PPVs. For instance, in a recent study with a total of 94 085 high‐risk singleton pregnancies, the reported PPVs of NIPT were 95% for trisomy 21, 82% for trisomy 18, and 46% for trisomy 13, respectively . As evidenced by our study, we only obtained a PPV of 68.6% for trisomy 18/13.…”

supporting

confidence: 53%

“…For instance, in a recent study with a total of 94 085 high-risk singleton pregnancies, the reported PPVs of NIPT were 95% for trisomy 21, 82% for trisomy 18, and 46% for trisomy 13, respectively. 6 As evidenced by our study, we only obtained a PPV of 68.6% for trisomy 18/13. PPV is dependent not only on the sensitivity and specificity of the test, but it is also highly dependent on the prevalence of the condition.…”

supporting

confidence: 46%

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The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13

Yang

et al. 2019

Prenatal Diagnosis

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What's already known about this topic? Positive predict value (PPV) is vitally important because it indicates the probability that a positive test result represents a true fetal abnormality. PPV of noninvasive prenatal testing (NIPT) is lower for trisomy 18/13 compared with trisomy 21. What does this study add? In our study cohort of women with a high‐risk noninvasive prenatal testing (NIPT) result and normal nuchal translucency measurement, >90% (32/35) of cases with true fetal trisomy 18/13 had a fetal abnormality on ultrasound, compared with none of the fetuses with confined placental mosaicism and normal amniocentesis result. Detailed sonographic examination of the fetus following a high‐risk NIPT result for trisomy 13/18 is an important component of clinical management and may influence the choice of confirmatory prenatal diagnostic procedure.

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supporting

confidence: 53%

supporting

confidence: 46%

The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13

Yang

et al. 2019

Prenatal Diagnosis

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“…Over the last few years, NIPT has fast become the first‐choice methodology in many settings for routine screening in pregnancy for fetal chromosomal abnormalities. In China, around 10% of all pregnancies are currently tested by NIPT and, so far, high sensitivity, high specificity, low false‐positive rates and very low false‐negative rates have been demonstrated consistently.…”

Section: Introductionmentioning

confidence: 99%

Non‐invasive cell‐free fetal DNA testing for aneuploidy: multicenter study of 31 515 singleton pregnancies in southeastern China

Huang

Lin

et al. 2020

Ultrasound in Obstet & Gyne

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Objective To analyze the non‐invasive prenatal testing (NIPT) for aneuploidy results of 31 515 singleton pregnancies in Fujian province, southeastern China, and assess its performance in low‐, moderate‐ and high‐risk pregnancies. Methods Women were categorized into groups according to whether their risk for fetal abnormality was low, moderate or high. Cell‐free plasma DNA extracted from peripheral blood samples was subjected to low‐coverage whole‐genome sequencing. Standard Z‐score analysis of the mapped sequencing reads was used to identify fetal aneuploidy, including the three main trisomies (T21, T18 and T13) and sex chromosome aneuploidy (SCA). NIPT‐positive results were confirmed by amniocentesis and karyotyping. The performance of NIPT for detection of T21, T18, T13 and SCA was assessed by calculating the sensitivity and specificity. Results The rate of chromosomal abnormality detected by NIPT in the study population was 1.38%. A higher rate of chromosomal abnormality was found in the high‐risk group (1.57%) compared to the moderate‐risk (1.05%) and low‐risk (1.18%) groups (P < 0.05). Sensitivity and specificity, respectively, were 98.96% (95/96) and 99.94% (31 274/31 292) for detection of T21, 100% (25/25) and 99.96% (31 352/31 363) for T18, 100% (7/7) and 99.97% (31 373/31 381) for T13 and 100% (61/61) and 99.74% (31 245/31 327) for SCA. Positive predictive values were high for T21 (84.07%) and T18 (69.44%) and moderate for T13 (46.67%) and SCA (42.66%). Conclusion Our findings support the application of NIPT for reliable and accurate testing of the general population of reproductive‐age women for clinically significant fetal aneuploidy. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

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“… More recently, NIPT has also been available for certain genomic microdeletions and microduplications . Noninvasive prenatal diagnosis (NIPD) has extended the potential applications to dominant monogenic disorders, which is confined to the detection of de novo and paternal pathogenic variants . However, NIPD of recessive monogenic disorders is still at the laboratory research stage.…”

Section: Introductionmentioning

confidence: 99%

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell‐free DNA in maternal plasma

et al. 2019

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Objective This study aimed to validate the feasibility of haplotype‐based noninvasive prenatal diagnosis (NIPD) of cobalamin C (cblC) deficiency. Method This method includes three steps: First, targeted sequencing was performed on 21 families affected by cblC deficiency (including the couples and probands). Second, parental haplotypes linked with the pathogenic variant were determined using the genotypes of trios. Then, the fetal haplotypes were inferred through a parental haplotype assisted hidden Markov model (HMM). The NIPD results were confirmed by using the invasive procedures. Results Twenty‐one fetal genotypes were successfully inferred by NIPD including three compound heterozygotes with cblC deficiency, nine heterozygote carriers of cblC deficiency, and nine normal fetuses. The NIPD results were confirmed using the invasive procedures with 100% concordant rate. Conclusion This result has shown that haplotype‐based NIPD of cblC deficiency has high concordant rate and indicated potential clinical utility as a pregnancy diagnosis method for high‐risk carrier couples.

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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

Cited by 180 publications

References 39 publications

The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13

The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13

Non‐invasive cell‐free fetal DNA testing for aneuploidy: multicenter study of 31 515 singleton pregnancies in southeastern China

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell‐free DNA in maternal plasma

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