Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies

AbstractMaternal plasma DNA sequencing based noninvasive prenatal testing (NIPT) has been proven to be highly accurate in the detection of trisomy 21, 18, 13, X and Y, however, few reports have been made on its detection efficiency of rare complex aneuploidies. Here, we report a case of fetal trisomy 9 mosaicism identified by using NIPT, which may provide useful information for the further integration of NIPT into prenatal screening and diagnosis practice.

Download Full-text

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

BMJ ◽

10.1136/bmj.c7401 ◽

2011 ◽

Vol 342 (jan11 1) ◽

pp. c7401-c7401 ◽

Cited By ~ 483

Author(s):

R. W. K. Chiu ◽

R. Akolekar ◽

Y. W. L. Zheng ◽

T. Y. Leung ◽

H. Sun ◽

...

Keyword(s):

Dna Sequencing ◽

Trisomy 21 ◽

Large Scale ◽

Maternal Plasma ◽

Validity Study ◽

Plasma Dna ◽

Scale Validity ◽

Non Invasive

Download Full-text

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.

Download Full-text

Noninvasive prenatal diagnostics by maternal plasma DNA sequencing

Expert Review of Molecular Diagnostics ◽

10.1586/erm.12.35 ◽

2012 ◽

Vol 12 (5) ◽

pp. 445-447

Author(s):

Cees B Oudejans

Keyword(s):

Dna Sequencing ◽

Maternal Plasma ◽

Prenatal Diagnostics ◽

Plasma Dna

Download Full-text

Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening

Human Genomics ◽

10.1186/s40246-019-0244-0 ◽

2019 ◽

Vol 13 (1) ◽

Cited By ~ 2

Author(s):

Yaping Hou ◽

Jiexia Yang ◽

Yiming Qi ◽

Fangfang Guo ◽

Haishan Peng ◽

...

Keyword(s):

Gestational Age ◽

Maternal Age ◽

Prenatal Screening ◽

Maternal Plasma ◽

Clinical Implementation ◽

Factors Affecting ◽

Non Invasive ◽

Cell Free Fetal Dna ◽

Maternal Bmi ◽

Fetal Fraction

Abstract Background The identification of cell-free fetal DNA (cffDNA) facilitated non-invasive prenatal screening (NIPS) through analysis of cffDNA in maternal plasma. However, challenges regarding its clinical implementation become apparent. Factors affecting fetal fraction should be clarified to guide its clinical application. Results A total of 13,661 pregnant subjects with singleton pregnancies who undertook NIPS were included in the study. Relationship of gestational age, maternal BMI, and maternal age with the cffDNA fetal fraction in maternal plasmas for NIPS was investigated. Compared with 13 weeks (12.74%) and 14–18 weeks group (12.73%), the fetal fraction in gestational ages of 19–23 weeks, 24–28 weeks, and more than 29 weeks groups significantly increased to 13.11%, 16.14%, and 21.17%, respectively (P < 0.01). Compared with fetal fraction of 14.54% in the maternal BMI group of < 18.5 kg/m2, the percentage of fetal fraction in the group of 18.5–24.9 kg/m2 (13.37%), 25–29.9 kg/m2 (12.20%), 30–34.9 kg/m2 (11.32%), and 35–39.9 kg/m2 (11.57%) decreased significantly (P < 0.01). Compared with the fetal fraction of 14.38% in the group of 18–24 years old, the fetal fraction in the maternal age group of 25–29 years old group (13.98%) (P < 0.05), 30–34 years old group (13.18%) (P < 0.01), 35–39 years old group (12.34%) (P < 0.01), and ≥ 40 years old (11.90%) group (P < 0.01) decreased significantly. Conclusions The percentage of fetal fraction significantly increased with increase of gestational age. Decreased fetal fraction with increasing maternal BMI was found. Maternal age was also negatively related to the fetal fraction.

Download Full-text