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

Abstract Objective：To explore the efficacy and clinical application value of non-invasive prenatal testing (non-invasive prenatal testing, NIPT) for screening fetal chromosomal abnormalities. Methods: NIPT was performed on 25,517 pregnant women. The high-risk samples were compared with amniotic fluid and cord blood chromosome karyotype analysis. Some samples were further verified by microarray (CMA), and pregnancy outcomes were followed up. Results: Of all the cases examined, 25502 cases were detected successfully, and a total of 294 high-risk samples (1.15%) were detected, of which further diagnosis was made in 208 cases, true positive samples were detected in 96 cases, and further tests were refused in 86 cases.71 cases (0.28%) of autosomal aneuploid high-risk samples were detected and 51 cases were diagnosed, including 44 cases of trisomy 21 (T21), 5 cases of trisomy 18 (T18), and 2 cases of trisomy 13 (T13). The PPV was 90.90%, 45.45% and 33.33%, respectively. Thirteen high-risk samples of trisomy 21, 18, and 13 were detected, and 1 case was confirmed as T21 mosaic PPV was 8.33% NPV was 100%. High-risk samples of sex chromosome aneuploidy (SCA) were detected in 72 cases (0.28%), 23 cases were diagnosed, and the PPV was 40.07%. The PPV was 12.00%, 50.00%, 72.73% and 75.00%, respectively, and the PPV was 12.00%, 50.00%, 72.73% and 75.00%, respectively. High-risk samples of copy number variation (CNV) were detected in 104 cases (0.41%), and 18 cases were diagnosed, with a PPV of 32.14%. Other high-risk samples of chromosome aneuploidy were detected in 34 cases (0.13%), and 3 cases were diagnosed as T2, T9, and T16, respectively. PPV is 8.70%.Conclusion: NIPT is suitable for trisomy 21, 18, and 13 screening, especially for T21. It also has a certain reference value for SCA and microdeletion and microduplication syndromes（MMS）, and it is not recommended for screening for other chromosomal aneuploidies.

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Multiple marker screening test: Identification of fetal cystic hygroma, hydrops, and sex chromosome aneuploidy

The Journal of Maternal-Fetal Medicine ◽

10.1002/(sici)1520-6661(199601/02)5:1<31::aid-mfm7>3.0.co;2-u ◽

1996 ◽

Vol 5 (1) ◽

pp. 31-35 ◽

Cited By ~ 5

Author(s):

Katharine D. Wenstrom ◽

Larry R. Boots ◽

Paula C. Cosper

Keyword(s):

Screening Test ◽

Sex Chromosome ◽

Cystic Hygroma ◽

Sex Chromosome Aneuploidy ◽

Chromosome Aneuploidy

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Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

Fetal Diagnosis and Therapy ◽

10.1159/000479460 ◽

2017 ◽

Vol 44 (2) ◽

pp. 85-90 ◽

Cited By ~ 19

Author(s):

Louise Kornman ◽

Ricardo Palma-Dias ◽

Debbie Nisbet ◽

Fergus Scott ◽

Melody Menezes ◽

...

Keyword(s):

Clinical Practice ◽

Sex Chromosome ◽

Prenatal Testing ◽

Routine Clinical Practice ◽

Sex Chromosome Aneuploidy ◽

Non Invasive ◽

Chromosome Aneuploidy

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Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

10.21203/rs.3.rs-39576/v1 ◽

2020 ◽

Author(s):

Xinran Lu ◽

Chaohong Wang ◽

Yuxiu Sun ◽

Junxiang Tang ◽

Keting Tong ◽

...

Keyword(s):

Prenatal Diagnosis ◽

High Risk ◽

Pregnant Women ◽

Maternal Age ◽

Sex Chromosome ◽

Karyotype Analysis ◽

Prenatal Testing ◽

Sex Chromosome Aneuploidy ◽

Non Invasive ◽

Chromosome Aneuploidy

Abstract Objective: To investigate the positive predictive value (PPV) and clinical features of non-invasive prenatal testing (NIPT) as a screening method in detecting sex chromosome aneuploidy (SCA) within a high-risk population at the Maternity and Child Health Hospital of Anhui Province.Methods: From June 2015 to June 2019, 45773 women with singleton pregnancies volunteered to take an NIPT. Cell-free fetal DNA was extracted for high-throughput sequencing and amniocentesis karyotype analysis was performed in pregnant women. Results: 314 high-risk pregnant women underwent NIPT and 143 chose invasive prenatal diagnosis. Karyotype analysis was performed in amniotic fluid cells, wherein 7 cases of 45,X (PPV: 12.50%), 16 cases of 47,XXX (PPV: 55.17%), 25 cases of 47,XXY (PPV: 71.43%), and 10 cases of 47,XYY(PPV: 76.92%) were confirmed. The PPV of NIPT for SCA was 40.56%. The rate of SCA detected in women aged 40 years and older was 0.39%, which was significantly different from that detected in women aged <30, 30–34, and 35–39 years (P < 0.05). The detection rates of 47,XXX and 47,XXY were significantly correlated with maternal age (P < 0.05), but those of 45,X and 47,XYY showed no significant correlation with maternal age.Conclusion: NIPT can be applied for the detection of SCA, but the detection accuracy is low. Genetic counseling and further prenatal diagnosis should be provided.

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Non-invasive Prenatal Testing for Assessing Fetal Sex Chromosome Aneuploidy: A Retrospective Study of 45773 Cases

10.21203/rs.3.rs-78816/v1 ◽

2020 ◽

Author(s):

LU Xinran ◽

WANG Chaohong ◽

SUN Yuxiu ◽

TANG Junxiang ◽

TONG Keting ◽

...

Keyword(s):

Pregnant Women ◽

Maternal Age ◽

Sex Chromosome ◽

Diagnostic Testing ◽

Prenatal Testing ◽

Maternal Characteristics ◽

Sex Chromosome Aneuploidy ◽

Non Invasive ◽

Chromosome Aneuploidy ◽

Prenatal Diagnostic

Abstract Objective: To assess the positive predictive value (PPV) of non-invasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decision in positive cases. Materials and Methods: We retrospectively analyzed 45773 singleton pregnancies with different characteristics that were subjected to NIPT in Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and pregnancy outcomes were collected.Results: A total of 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 resulted as true-positive. Overall, the PPV for 45,X, 47,XXX, 47,XXY and 47,XYY was 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when screening only pregnant women in advanced maternal age (AMA), the PPV for 45,X, 47,XXX, 47,XXY and 47,XYY was 23.81%, 53.33%, 78.95%, and 66.67%, respectively. AMA was a high-risk predictor of having a fetus with SCA. The frequencies of 47, XXX, and 47,XXY were significantly correlated with maternal age.Conclusion: NIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive fetus were more eager to terminate pregnancy compared to those with 47,XXX and 47, XYY. Our findings may assist in genetic counseling of AMA pregnant women. Our Pre- and post-test counseling are essential for familiarizing pregnant women with the benefits and limitations of the NIPT, which may ease their anxiety and provide them with the informed choice for further diagnosis and pregnancy decision.

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