scholarly journals Fetal fraction‐based risk algorithm for non‐invasive prenatal testing: screening for trisomies 13 and 18 and triploidy in women with low cell‐free fetal DNA

2018 ◽  
Vol 53 (1) ◽  
pp. 73-79 ◽  
Author(s):  
T. McKanna ◽  
A. Ryan ◽  
S. Krinshpun ◽  
S. Kareht ◽  
K. Marchand ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Risk Algorithm ◽  
Cell Free Fetal Dna ◽  
Fetal Fraction

scholarly journals Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽  
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.

Non-Invasive Testing, Non-Invasive Counseling

2015 ◽  
Vol 43 (2) ◽  
pp. 228-240 ◽  
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.

scholarly journals Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

2019 ◽  
Vol 7 (10) ◽  
pp. 1977-1981
Author(s):  
Luigia De Falco ◽  
Giovanni Savarese ◽  
Teresa Suero ◽  
Sonia Amabile ◽  
Raffaella Ruggiero ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Xx Male

Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation

2014 ◽  
Vol 428 ◽  
pp. 44-50 ◽  
Author(s):  
Gary J.W. Liao ◽  
Ann M. Gronowski ◽  
Zhen Zhao
Keyword(s):  
Prenatal Testing ◽  
Maternal Circulation ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region

Medicina ◽  
2020 ◽  
Vol 56 (11) ◽  
pp. 579
Author(s):  
Danielius Serapinas ◽  
Evelina Boreikaitė ◽  
Agnė Bartkevičiūtė ◽  
Kristina Norvilaitė ◽  
Andrius Narbekovas ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Singleton Pregnancy ◽  
Fetal Dna ◽  
Sex Chromosome Abnormalities ◽  
Cell Free Fetal Dna ◽  
Xyy Syndrome ◽  
First Results ◽  
Fetal Fraction

Background and objectives: Noninvasive prenatal testing (NIPT), which has been introduced clinically since 2011, uses the circulating cell-free fetal DNA in the maternal blood to evaluate the risk of a chromosomal anomaly. The aim of this study was to examine the effectiveness of NIPT using a single nucleotide polymorphism method. Materials and Methods: A retrospective study was conducted between 2013 and 2019. The Natera Panorama test was used to analyze the risk of trisomies 21, 18, 13, X monosomy, trisomy, and other sex chromosome abnormalities. A positive result of NIPT for aneuploidy was confirmed by invasive testing. Results: 850 women with a singleton pregnancy participated in the study. The median fetal fraction was 9.0%. The fetal fraction was lower in the no-call group (3.1%) compared with the group that received a call (9.1%) (p < 0.001). A positive correlation was determined between the gestational age and the fetal fraction (r = 0.180, p < 0.001). The overall positive predictive value (PPV) of NIPT for trisomy 21 (n = 9), trisomy 18 (n = 3) and XYY syndrome (n = 1) was 100%. Conclusions: The results of present study showed 100% PPV effectiveness of NIPT Panorama test detecting trisomies of 21 and 18 chromosomes, as well as XYY syndrome in the studied cohort. Therefore, NIPT due to its high PPV, significantly reduces the need for invasive testing, thereby reducing the risk of miscarriage and stillbirth.

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