scholarly journals The utility of nuchal translucency ultrasound in identifying rare chromosomal abnormalities not detectable by cell‐free DNA screening

2019 ◽  
Vol 40 (2) ◽  
pp. 185-190
Author(s):  
Victoria K. Berger ◽  
Mary E. Norton ◽  
Teresa N. Sparks ◽  
Monica Flessel ◽  
Rebecca J. Baer ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Nuchal Translucency ◽  
Cell Free Dna ◽  
Free Dna

First-Trimester Contingent Screening for Trisomy 21 by Fetal Nuchal Translucency and Maternal Serum Biomarkers and Maternal Blood Cell-Free DNA Testing

2018 ◽  
Vol 5 (3) ◽  
pp. 139-143
Author(s):  
Sarang Younesi ◽  
Shahram Savad ◽  
Soudeh Ghafouri-Fard ◽  
Mohammad Mahdi Taheri-Amin ◽  
Pourandokht Saadati ◽  
...  
Keyword(s):  
Blood Cell ◽  
Trisomy 21 ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Blood ◽  
Maternal Serum ◽  
Serum Biomarkers ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

Cell-Free DNA Screening for Fetal Aneuploidy

2021 ◽  
pp. 115-120
Author(s):  
Ashley N. Battarbee ◽  
Neeta L. Vora
Keyword(s):  
Trisomy 21 ◽  
Dna Analysis ◽  
Chromosomal Abnormalities ◽  
Area Under The Curve ◽  
First Trimester ◽  
Outcome Data ◽  
Cell Free Dna ◽  
High Risk Women ◽  
Free Dna ◽  
Trimester Screening

In a prospective, multicenter blinded study at 35 international centers, the Noninvasive Examination of Trisomy (NEXT) study evaluated the performance of cell-free DNA screening for fetal trisomy compared to standard first trimester screening with nuchal translucency and serum analytes in a routine prenatal population. Among the 15,841 women who had standard screening and cell-free DNA analysis with neonatal outcome data, there were 68 chromosomal abnormalities (1 in 236). Of these, 38 were Trisomy 21 (1 in 417). Cell-free DNA analysis had a higher area under the curve (AUC) for trisomy 21, compared to standard screening (0.999 vs. 0.958, p = 0.001). Cell-free DNA analysis also had greater sensitivity, specificity, and positive predictive value compared to standard screening for trisomy 21, 18, and 13. While cell-free DNA analysis cannot detect all chromosome abnormalities, it performed better than standard screening for detection of trisomies 21, 18, and 13 in a routine population including low- and high-risk women.

scholarly journals 969: Does maternal age impact nuchal translucency utilization since the introduction of cell-free DNA

2020 ◽  
Vol 222 (1) ◽  
pp. S600-S601
Author(s):  
Loralei L. Thornburg ◽  
Lawrence D. Platt ◽  
Gregory J. Toland ◽  
Lorraine Dugoff ◽  
Jennifer McIntosh ◽  
...  
Keyword(s):  
Maternal Age ◽  
Nuchal Translucency ◽  
Cell Free Dna ◽  
Free Dna

Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women

2018 ◽  
Vol 62 (2) ◽  
pp. 215-224 ◽  
Author(s):  
Hong Yao ◽  
Ya Gao ◽  
Jia Zhao ◽  
Rong Zhang ◽  
Huixin Xu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Genome Wide

scholarly journals The importance of ultrasound preceding cell‐free DNA screening for fetal chromosomal abnormalities

2020 ◽  
Vol 40 (11) ◽  
pp. 1439-1446
Author(s):  
Imogen Brown ◽  
Shavi Fernando ◽  
Melody Menezes ◽  
Fabricio Silva Costa ◽  
Jayshree Ramkrishna ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Cell Free Dna ◽  
Free Dna ◽  
Preceding Cell

scholarly journals Value of increased nuchal translucency in the era of noninvasive prenatal testing with cell‐free DNA

2019 ◽  
Vol 145 (3) ◽  
pp. 319-323 ◽  
Author(s):  
Iris Holzer ◽  
Peter W. Husslein ◽  
Dieter Bettelheim ◽  
Julia Scheidl ◽  
Herbert Kiss ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Increased Nuchal Translucency

scholarly journals The clinical usefulness of cell-free DNA screening in pregnancies with a nuchal translucency between 95th and 99th percentile

2020 ◽  
Author(s):  
hyunmi Lee ◽  
You Jung Han ◽  
Hyun Mee Ryu ◽  
Soo Hyun Kim ◽  
Moon Young Kim ◽  
...  
Keyword(s):  
Nuchal Translucency ◽  
Clinical Usefulness ◽  
Cell Free Dna ◽  
Free Dna
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