Cell-free fetal DNA-based noninvasive prenatal testing of aneuploidy

Abstract Objective : Noninvasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigated by analyzing the sex chromosome aneuploidy aberrations among 9985 pregnancies. The study was a retrospective analysis of collected NIPT data from the Ion S5 Next-Generation Sequencing (NGS) platform obtained from Altamedica Medical Centre of Rome. Results : NIPT analysis of 9985 pregnancies revealed 31 cases with abnormal SCA results (0.31%). Among the 31 positive NIPT cases, 22 women agreed to undergo fetal karyotyping, whereas 9 refused further analyses. Of the 22 women verified by karyotyping analysis, 77.3% (17/22) were confirmed to be true positive SCAs, whereas 22.7% (5/22) were false positive. Among the true positive cases, 53.0% (9/17) were positive for monosomy X, 17.6% (3/17) were positive for 47,XXX aneuploidy, 23.5% (4/17) were positive for 47,XXY aneuploidy, and 5.9% (1/17) were positive for 47,XYY aneuploidy. In conclusion, the present results confirm that NIPT is a potential method for SCA screening, although this technology needs to be further investigated to improve the test performance.

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Faculty Opinions recommendation of Cell-free fetal DNA-based noninvasive prenatal testing of aneuploidy.

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

10.3410/f.735515416.793559901 ◽

2019 ◽

Author(s):

Tomas Szemes

Keyword(s):

Prenatal Testing ◽

Noninvasive Prenatal Testing ◽

Fetal Dna ◽

Cell Free Fetal Dna

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Re: Cell-free fetal DNA-based noninvasive prenatal testing of aneuploidy

The Obstetrician & Gynaecologist ◽

10.1111/tog.12461 ◽

2018 ◽

Vol 20 (1) ◽

pp. 69-69

Author(s):

Felicity Ashworth

Keyword(s):

Prenatal Testing ◽

Noninvasive Prenatal Testing ◽

Fetal Dna ◽

Cell Free Fetal Dna

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Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽

10.3390/genes12010015 ◽

2020 ◽

Vol 12 (1) ◽

pp. 15

Author(s):

Luigi Carbone ◽

Federica Cariati ◽

Laura Sarno ◽

Alessandro Conforti ◽

Francesca Bagnulo ◽

...

Keyword(s):

Prenatal Screening ◽

Prenatal Testing ◽

Non Invasive ◽

Fetal Dna ◽

Cell Free Fetal Dna ◽

Common Causes ◽

Future Challenges ◽

Neurodevelopmental Impairment ◽

Fetal Aneuploidies ◽

Made In

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

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Non-Invasive Testing, Non-Invasive Counseling

The Journal of Law Medicine & Ethics ◽

10.1111/jlme.12237 ◽

2015 ◽

Vol 43 (2) ◽

pp. 228-240 ◽

Cited By ~ 2

Author(s):

Rachel Rebouché

Keyword(s):

Chromosomal Abnormalities ◽

Genetic Test ◽

Prenatal Testing ◽

Private Companies ◽

Major Health ◽

Prenatal Health ◽

Non Invasive ◽

Fetal Dna ◽

Cell Free Fetal Dna ◽

A Company

A regulatory moment for prenatal health care is here. An increasing amount of legislative attention has concentrated on the decisions pregnant women make after prenatal testing. The impetus for this legislation is a new non-invasive prenatal genetic test (NIPT). From the beginning of pregnancy, cell-free fetal DNA travels across the placental lining into the mother’s bloodstream, increasing in quantity as the pregnancy progresses. Laboratories can now analyze that DNA for chromosomal abnormalities and for fetal sex at 10 weeks of gestation. NIPT, which relies on a sample of the pregnant woman’s blood, is painless, occurs early in pregnancy, and is available for clinical and commercial use. In 2013, major health insurance plans began to cover NIPT for certain populations of women, such as women over 35 years old. And private companies have started marketing prenatal testing kits directly to consumers, who return a blood sample from the prospective mother to a company laboratory.

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An online tool for fetal fraction prediction based on direct size distribution analysis of maternal cell-free DNA

BioTechniques ◽

10.2144/btn-2020-0143 ◽

2020 ◽

Author(s):

Luca Bedon ◽

Josef Vuch ◽

Simeone Dal Monego ◽

Germana Meroni ◽

Vanna Pecile ◽

...

Keyword(s):

Size Distribution ◽

Prenatal Testing ◽

Distribution Analysis ◽

Blood Draw ◽

Noninvasive Prenatal Testing ◽

Cell Free Dna ◽

Maternal Cell ◽

Fetal Dna ◽

Free Dna ◽

Fetal Fraction

The discovery of circulating fetal DNA in the plasma of pregnant women has greatly promoted advances in noninvasive prenatal testing. Screening performance is enhanced with higher fetal fraction and analysis of samples whose fetal DNA fraction is lower than 4% are unreliable. Although current approaches to fetal fraction measurement are accurate, most of them are expensive and time consuming. Here we present a simple and cost-effective solution that provides a quick and reasonably accurate fetal fraction by directly evaluating the size distribution of circulating DNA fragments in the extracted maternal cell-free DNA. The presented approach could be useful in the presequencing stage of noninvasive prenatal testing to evaluate whether the sample is suitable for the test or a repeat blood draw is recommended.

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