Analysis of 1068 Pregnant Women Undergoing Non-Invasive Prenatal Testing for Fetal Chromosome Aneuploidy in Rizhao Area

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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PP350 Study On The Awareness, Willingness To Pay And Satisfaction With Non-Invasive Prenatal Testing Among Pregnant Women

International Journal of Technology Assessment in Health Care ◽

10.1017/s0266462320001622 ◽

2020 ◽

Vol 36 (S1) ◽

pp. 30-30

Author(s):

Changjia Fan ◽

Wenru Shang ◽

Jiayan Huang ◽

Yang Wan

Keyword(s):

Willingness To Pay ◽

Pregnant Women ◽

Birth Defects ◽

Financial Burden ◽

Down's Syndrome ◽

Prenatal Testing ◽

Down’S Syndrome ◽

Anhui Province ◽

Screening Methods ◽

Non Invasive

IntroductionBirth defects seriously affect children's survival and quality of life and bring great suffering and financial burden to children and their families. Down's syndrome is one of the most common birth defects. Compared with traditional serological screening methods, non-invasive prenatal testing (NIPT) has higher sensitivity and specificity in the screening of Down's syndrome. In April 2017, the People's Government of Fuyang City, Anhui Province launched a NIPT free screening program. From the perspective of the beneficiary, this research investigated the awareness, willingness to pay and satisfaction of pregnant women in Fuyang City, Anhui Province, to better improve the use of NIPT.MethodsA questionnaire survey was conducted on 1,221 pregnant women who experienced this program in Fuyang City, Anhui Province. Multivariate ordered logistic regression models were established to analyze the factors affecting the satisfaction of NIPT.ResultsA total of 1,217 valid questionnaires were collected. Research indicated 82.5 percent knew about NIPT and 81.9 percent were willing to pay personally when its price was CNY 800 (USD 113.88) per test among pregnant women. The satisfaction of pregnant women with NIPT showed that the waiting time for test results was relatively low (4.5 out of 5 points) compared with other aspects of satisfaction. The higher the education level of the pregnant women, the lower their satisfaction with NIPT.ConclusionsIt is necessary to pay attention to the characteristics of education and to improve the awareness and satisfaction of NIPT among pregnant women. Meanwhile, if it is affordable enough for NIPT services to be provided by the government, this mode should be promoted. In conjunction with the willingness to pay of pregnant women, NIPT payment methods should be developed appropriately.

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The Value of Non-Invasive Prenatal Testing in the Diagnosis of Birth Defects: Insights from a Large Multicentre Study in Southern China

10.21203/rs.3.rs-778395/v1 ◽

2021 ◽

Author(s):

Meiying Cai ◽

Na Lin ◽

Xuemei Chen ◽

Ying Li ◽

Min Lin ◽

...

Keyword(s):

Multicentre Study ◽

Pregnant Women ◽

Chromosomal Abnormalities ◽

Southern China ◽

Prenatal Testing ◽

Copy Number Variations ◽

Trisomy 13 ◽

Detection Rates ◽

Non Invasive ◽

Large Multicentre Study

Abstract Non-invasive prenatal testing (NIPT) is a fast, safe, and non-disruptive diagnostic method. At present, few studies have evaluated the screening efficiency of NIPT positive predictive value (PPV) in study subjects. Here, the results of NIPT in pregnant women were retrospectively analysed, and the detection rate, PPV and follow-up data were evaluated to determine its clinical value. A large multicentre study was conducted involving 52,855 pregnant women who received NIPT. Based on gestational age, amniotic fluid or umbilical cord blood were extracted for simultaneous karyotype and chromosome microarray analysis (CMA) in NIPT-positive patients. Among the 52,855 cases, 754 were NIPT-positive, with a positivity rate of 1.4%. Karyotype analysis and/or CMA confirmed 323 cases of chromosomal abnormalities, with a PPV of 45.1%. PPV of Trisomy 21 (T21), Trisomy 18 (T18), Trisomy 13 (T13), sex chromosomal aneuploidies (SCA) and copy number variations (CNV) were 78.9%, 35.3%, 22.2%, 36.9% and 32.9%, respectively. The PPV of T21, T18, and T13 increased with age whereas, the PPV of SCA and CNVs had little correlation with age. The PPV was significantly high in patients with advanced age along with an abnormal ultrasound.NIPT had a high PPV for T21, and a low PPV for T13 and T18, while screening for SCA and CNVs showed clinical significance. However, in case of NIPT screening for SCA and CNVs, simultaneous karyotype and CMA should be performed to increase the detection rates. Interventional prenatal diagnosis is still required in NIPT-positive cases to avoid false positives or unnecessary termination of pregnancy.

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Lower detectability of non-invasive prenatal testing compared to prenatal diagnosis in high-risk pregnant women

Annals of Translational Medicine ◽

10.21037/atm.2019.06.70 ◽

2019 ◽

Vol 7 (14) ◽

pp. 319-319 ◽

Cited By ~ 1

Author(s):

Jing Wang ◽

Zhi-Wei Wang ◽

Qin Zhou ◽

Bin Zhang ◽

Ting Yin ◽

...

Keyword(s):

Prenatal Diagnosis ◽

High Risk ◽

Pregnant Women ◽

Prenatal Testing ◽

Non Invasive

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The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications

Frontiers in Genetics ◽

10.3389/fgene.2020.00624 ◽

2020 ◽

Vol 11 ◽

Author(s):

Jianli Zheng ◽

Haiyan Lu ◽

Min Li ◽

Yongjuan Guan ◽

Fangfang Yang ◽

...

Keyword(s):

Pregnant Women ◽

Clinical Utility ◽

Prenatal Testing ◽

Non Invasive

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An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing

PLoS ONE ◽

10.1371/journal.pone.0159648 ◽

2016 ◽

Vol 11 (7) ◽

pp. e0159648 ◽

Cited By ~ 11

Author(s):

Ting Wang ◽

Quanze He ◽

Haibo Li ◽

Jie Ding ◽

Ping Wen ◽

...

Keyword(s):

Sex Chromosome ◽

Prenatal Testing ◽

Fetal Sex ◽

Sex Chromosome Aneuploidy ◽

Non Invasive ◽

Chromosome Aneuploidy

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Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

10.21203/rs.2.12626/v4 ◽

2020 ◽

Author(s):

Junko Yotsumoto ◽

Akihiko Sekizawa ◽

Satomi Inoue ◽

Nobuhiro Suzumori ◽

Osamu Samura ◽

...

Keyword(s):

Genetic Counseling ◽

Pregnant Women ◽

Qualitative Data ◽

Prenatal Testing ◽

Qualitative Investigation ◽

Anticipatory Anxiety ◽

Related Factors ◽

Non Invasive ◽

Negative Results

Abstract Background: Women who receive negative results from non-invasive prenatal genetic testing (NIPT) may find that they later have mixed or ambivalent feelings, for example, feelings of accepting NIPT and regretting undergoing the test. This study aimed to investigate the factors generating ambivalent feelings among women who gave birth after having received negative results from NIPT. Methods: A questionnaire was sent to women who received a negative NIPT result, and a contents analysis was conducted focusing on ambivalent expressions for those 1562 women who responded the questionnaire. The qualitative data gathered from the questionnaire were analyzed using the N-Vivo software package. Results: Environmental factors, genetic counseling-related factors, and increased anticipatory anxiety, affected the feeling of ambivalence among pregnant women. Furthermore, pregnant women desired more information regarding the detailed prognosis for individuals with Down syndrome and living with them and/or termination, assuming the possibility that they were positive. Conclusions: Three major interrelated factors affected the feeling of ambivalence in women. High-lighting and discussing such factors during genetic counseling may resolve some of these ambivalences, thereby enhancing the quality of decisions made by pregnant women.

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