Genome-wide non-invasive prenatal screening for all cytogenetically visible imbalances

Trisomy 7 is the most frequently observed type of rare autosomal trisomies in genome-wide non-invasive prenatal screening (NIPS). Currently, the clinical significance of trisomy 7 NIPS-positive results is still unknown. We reviewed two independent cohorts from two laboratories where similar NIPS metrics were applied. A total of 70,441 singleton cases who underwent genome-wide NIPS were analyzed, among which 39 pregnancies were positive for trisomy 7, yielding a screen-positive rate of 0.055% (39/70,441). There were 28 cases with invasive testing results available; the positive predictive value (PPV) was 3.6% (1/28). We then searched the published NIPS studies to generate a large cohort of 437,873 pregnancies and identified 247 cases (0.056%) that were screened positive for trisomy 7. The overall PPV was 3.4% (4/118) in the combined data. The presence of uniparental disomy 7 was not detected in the NIPS trisomy 7-positive pregnancies with normal fetal karyotype. Among the 85 cases with pregnancy outcome available in combined data, 88.2% were normal live births, 14.1% had intrauterine growth restriction, preterm birth or low birth weight, 3.5% presented with ultrasound abnormality, and no fetal loss was observed. Our data provide valuable information for counseling and management of trisomy 7-positive NIPS pregnancies.

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Application of nipt by ngs sequencing in D.O. Ott research institute for obstetrics, gynaecology and reproductology

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.03.71-73 ◽

2020 ◽

pp. 71-73

Author(s):

П.Ю. Козюлина ◽

Е.С. Вашукова ◽

А.В. Моршнева ◽

Н.М. Двойнова ◽

О.Е. Тарасенко ◽

...

Keyword(s):

Prenatal Screening ◽

Maternal Blood ◽

Non Invasive ◽

Fetal Dna ◽

Genome Wide ◽

Research Institute

Представлены результаты оригинальной технологии использования неинвазивного пренатального скрининга на основе полногеномного секвенирования внеклеточной ДНК (вкДНК) плода в материнской крови. Охарактеризованы основные параметры технологии и предложены новые возможности ее использования. The results of the original technology of non-invasive prenatal screening based on genome-wide fetal DNA (cfDNA) sequencing of the fetus in maternal blood are presented. The main parameters of the technology are characterized and new possibilities for its use are proposed.

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Comment on “The clinical utility of genome-wide non invasive prenatal screening”

Prenatal Diagnosis ◽

10.1002/pd.5098 ◽

2017 ◽

Vol 37 (10) ◽

pp. 1050-1052 ◽

Cited By ~ 4

Author(s):

Francesca Romana Grati ◽

Peter Benn

Keyword(s):

Clinical Utility ◽

Prenatal Screening ◽

Non Invasive ◽

Genome Wide

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The implementation of non-invasive prenatal testing (NIPT) in the Netherlands

Journal of Perinatal Medicine ◽

10.1515/jpm-2021-0290 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Caterina M. Bilardo

Keyword(s):

The Netherlands ◽

Prenatal Screening ◽

Prenatal Testing ◽

Informed Choice ◽

Great Emphasis ◽

Reproductive Choices ◽

Non Invasive ◽

Genome Wide ◽

The Government ◽

The Cost

Abstract In the Netherlands prenatal screening is offered as a mean to increase reproductive choices of couples. All women are counseled on the existing options by trained midwives. The government puts a great emphasis on informed choice and on womens’ opinions and reactions to screenings options. Since 2017 non-invasive prenatal testing (NIPT, cf-DNA) is offered as first tier screening for aneuploidies in the genome-wide (GW) variant at the cost of 175 Euro’s. Uptake is around 50%. This screenings offer is perceived as unconventional for the traditionally cautious Dutch system.

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Faculty Opinions recommendation of Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725883773.793524405 ◽

2016 ◽

Author(s):

Ignatia Van den Veyver

Keyword(s):

Prenatal Screening ◽

Prenatal Testing ◽

Responsible Innovation ◽

Non Invasive

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Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age

BMC Pregnancy and Childbirth ◽

10.1186/s12884-021-03570-6 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Hui Zhu ◽

Xiaoxiao Jin ◽

Yuqing Xu ◽

Weihua Zhang ◽

Xiaodan Liu ◽

...

Keyword(s):

High Risk ◽

Pregnant Women ◽

Predictive Value ◽

Trisomy 21 ◽

Maternal Age ◽

Prenatal Screening ◽

Advanced Maternal Age ◽

Youden Index ◽

Non Invasive ◽

Sensitivity Specificity

Abstract Background Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency for pregnant women at advanced maternal age (AMA) has not been fully studied especially in Chinese women. Methods Twenty-nine thousand three hundred forty-three pregnant women at AMA with singleton pregnancy who received NIPS and followed-up were recruited. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), receiver operating characteristic (ROC) curves and the Youden Index for detecting fetal chromosomal aneuploidies were analyzed. The relationship between maternal age and common fetal chromosomal aneuploidy was observed. Results The sensitivity, specificity, PPV, NPV of NIPS for detecting fetal trisomy 21 were 99.11, 99.96, 90.98, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100, 99.94, 67.92, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100, 99.96, 27.78, and 100%, respectively. The prevalence of fetal trisomy 21 increased exponentially with maternal age. The high-risk percentage incidence rate of fetal trisomy 21 was significantly higher in the pregnant women at 37 years old or above than that in pregnant women at 35 to 37 years old. (Youden index = 37). Conclusion It is indicated that NIPS is an effective prenatal screening method for pregnant women at AMA.

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Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

European Journal of Human Genetics ◽

10.1038/s41431-021-00940-8 ◽

2021 ◽

Author(s):

Karuna R. M. van der Meij ◽

Annabel Njio ◽

Linda Martin ◽

Janneke T. Gitsels-van der Wal ◽

Mireille N. Bekker ◽

...

Keyword(s):

Down Syndrome ◽

Pregnant Women ◽

Prenatal Screening ◽

Screening Program ◽

Informed Choice ◽

Aneuploidy Screening ◽

Non Invasive ◽

Fetal Aneuploidy ◽

Societal Pressure ◽

Prenatal Test

AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.

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