Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood

Yu, Bin; Lu, Beiyi; Zhang, Bin; Zhang, Xiaoqing; Chen, Ying-ping; Zhou, Qin; Jiang, Jian; Wang, Huiyan

doi:10.1097/md.0000000000007114

Cited by 41 publications

(42 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our results suggest that NIPT is suitable for high-and intermediate-risk prenatal screening. It has been reported that among 56 Down syndrome fetuses, 14% were associated with intermediate-risk mothers [22]. In our study, NIPT for intermediate-risk samples detected 10 positive cases, among which 7 were true positive (70.00%).…”

Section: Discussionsupporting

confidence: 46%

Non-invasive prenatal testing for detection of trisomy 13, 18, 21 and sex chromosome aneuploidies in 8594 cases

et al. 2019

View full text Add to dashboard Cite

Objectives: Cell-free fetal DNA has been widely used in prenatal genetic testing during recent years. We explored the feasibility of non-invasive prenatal testing (NIPT) for analysis of common fetal aneuploidies among pregnancies in northwest China. Material and methods:A total of 8594 maternal blood samples were collected from October 2014 to December 2017 in the Department of Obstetrics and Gynecology at the First Affiliated Hospital of the Air Force Medical University. Cases with positive screening results by NIPT detection were validated using karyotype analysis. Results:Of 8594 clinical pregnancies, 88 had positive NIPT results and 78 of 88 (88.6%) positive NIPT results were shown to be false-positive by amniotic fluid puncture and chromosome karyotyping analysis. There were 44 cases (49.44%) with trisomy 21, 18, and 13 syndromes (30 cases of trisomy 21, 9 cases of trisomy 18, and 5 cases of trisomy 13). There were 44 cases (50.56%) with sex chromosome abnormalities, including 11 cases with Turner syndrome (45, X), 17 cases with Triple X syndrome (47, XXX), 2 cases with Klinefelter syndrome (47, XXY), and 14 cases with 47, XYY syndrome (47, XYY). Conclusions:The accuracy, specificity, high efficiency, and acceptance of NIPT can effectively avoid birth defects and improve the quality of the birth population. We should deepen mining and analysis of the clinical data and explore ways to use NIPT. It is recommended that the NIPT guidelines be extended to low-risk patients to further explore the impact of a significant increase in screening.

show abstract

Section: Discussionsupporting

confidence: 46%

Non-invasive prenatal testing for detection of trisomy 13, 18, 21 and sex chromosome aneuploidies in 8594 cases

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Similarly, the PPV of T21/T18/T13 in AMA was all higher than the total samples in the present study. In a previous study, the efficiency of NIPT among 3585 advanced maternal age women was higher than the total samples too [7].…”

Section: Discussionmentioning

confidence: 76%

“…NIPT is rapidly being adopted as to screening test for the detection of fetal aneuploidies of chromosomes 13, 18, and 21 [5,6], and this method is also available for the detection of sex chromosome aneuploidies (SCAs ) [7]. A recent meta-analysis showed that the weighted pooled detection rate (DR) and false-positive rate (FPR) for T21 were 99.7% (95% CI, 99.1-99.9%) and 0.04% (95% CI, 0.02-0.07%), respectively.…”

Section: Introductionmentioning

confidence: 99%

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China

Liu

et al. 2020

Hum Genomics

View full text Add to dashboard Cite

Background: Cell-free fetal DNA (cffDNA) has opened up new approaches for non-invasive prenatal testing (NIPT), and it is often used as the second-tier test for high-risk pregnant women in detecting trisomy (T) 21, T18, and T13 after serum biochemistry screening. This study aims to discuss the clinical performance of NIPT as an alternative first-tier screening test for pregnant women in detecting T21, T18, T13, and sex chromosome aneuploidies (SCAs) in China. Methods: A total of 42,924 samples were recruited. The cell-free plasma DNA was directly sequenced. Each of the chromosome aneuploidies of PPV was analyzed. A total of 22 placental samples were acquired, including 14 FP and 8 TP samples. The placental verification of FP NIPT results was performed. Results: Among 42,924 samples, 281 (0.65%) positive cases, including 87 of T21, 31 of T18, 22 of T13, and 141 of SCAs were detected. For the detection of T21, the positive predictive value (PPV) was 78.46%, for trisomy 18, 62.96%, for trisomy 13, 10.00%, for SCAs, 47.22% in the total samples. For trisomy 21, the PPV was 86.67%, for trisomy 18, 80.00%, for trisomy 13, 20.00%, for SCAs, 56.52% in advanced maternal age (AMA) women. The PPV of T21 increased with age. For T18, the PPV showed an overall upward trend. For T13 and SCAs, PPV was raised first and then lowered. Placental verification of false positive (FP) NIPT results confirmed confined placental mosaicism(CPM) was the reason for false positives. Conclusions: This study represents the first time that NIPT has been used as a first-tier screening test for fetal aneuploidies in a pilot city with large clinical samples in China. We propose that NIPT could replace serum biochemistry screening as a first-tier test.

show abstract

“…Meanwhile, noninvasive prenatal screening (NIPS) was regarded as a good choice for AMA pregnant women. It could not only achieve satisfactory clinical effect, but also greatly reduce invasive prenatal diagnosis (11). AMA women were also willing to accept it and became the largest population for NIPS testing (12).…”

Section: Introductionmentioning

confidence: 99%

The assessment of combined karyotype analysis and chromosomal microarray in pregnant women of advanced maternal age: a multicenter study

Shi¹,

Ma²,

Xue³

et al. 2019

Ann. Transl. Med.

Self Cite

View full text Add to dashboard Cite

Background: Retrospectively analyzed the results of prenatal diagnosis and hoped to provide scientific clinical guidance of prenatal screening and diagnosis for the women in advanced maternal age (AMA). Methods: In total, 4,224 women of AMA who accepted prenatal diagnosis by amniocentesis (AC) from two prenatal diagnosis centers were recruited for this study. After genetic counseling and informed consent, 3,475 women received karyotype analysis only, 703 were examined by both karyotype analysis and chromosomal microarray (CMA), while 46 cases selected CMA only. Both centers used the same detection platform, experimental scheme, and quality control standards. Results: A total of 164 women with chromosomal abnormal results were found, the abnormality rate was 3.88% (164/4,224). Among them, 145 (3.4%, 145/4,224) cases were detected as abnormal chromosome number, 19 cases (0.4%, 19/4,224) as abnormal chromosome structure. Compared with simple AMA women, the abnormality rate was significantly increased in the AMA women who combined with other indications, particularly in number abnormalities (22.5% vs. 1.0%, P<0.001). Forty-eight copy number variations (CNVs) were detected, moreover 10 cases (0.24%, 10/4,224) were proved as pathogenic or likely pathogenic CNVs. With the CMA technology, the rate of additional abnormalities with clinical significance was 1.42% (10/703). Chromosome number abnormalities significantly increased with age (P<0.001), while there were no such trends in chromosomal structural abnormalities (P=0.624). Conclusions: About 3.88% fetuses of AMA women had chromosomal abnormalities, the abnormality rate increased with their age. The application of CMA could increase the diagnostic rate by about 1.4% for AMA women, and greatly reduce their tension.

show abstract

Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood

Cited by 41 publications

References 10 publications

Non-invasive prenatal testing for detection of trisomy 13, 18, 21 and sex chromosome aneuploidies in 8594 cases

Non-invasive prenatal testing for detection of trisomy 13, 18, 21 and sex chromosome aneuploidies in 8594 cases

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China

The assessment of combined karyotype analysis and chromosomal microarray in pregnant women of advanced maternal age: a multicenter study

Contact Info

Product

Resources

About