Re-examining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study

2021 ◽  
Author(s):  
Lisa HUI ◽  
Cecilia PYNAKER ◽  
Leonard BONACQUISTO ◽  
Anthea LINDQUIST ◽  
Alice POULTON ◽  
...  
Keyword(s):  
Record Linkage ◽  
Diagnostic Testing ◽  
Nuchal Translucency ◽  
Linkage Study ◽  
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

Prenatal Screening and Diagnosis

2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner
Keyword(s):  
Diagnostic Testing ◽  
Chorionic Villus ◽  
Clinical History ◽  
Maternal Serum ◽  
Specific Gene ◽  
Chorionic Villus Sampling ◽  
Genetic Syndromes ◽  
Cell Free Dna ◽  
Free Dna ◽  
Ultrasound Evaluation

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  

scholarly journals OC01.03: State‐wide performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study

2019 ◽  
Vol 54 (S1) ◽  
pp. 1-2 ◽  
Author(s):  
L. Hui ◽  
A. Lindquist ◽  
A. Poulton ◽  
E. Kluckow ◽  
B. Hutchinson ◽  
...  
Keyword(s):  
Record Linkage ◽  
Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna

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

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 610: Actual rates of recommended diagnostic testing after first trimester screening vs. same-day screening by cell free DNA

2016 ◽  
Vol 214 (1) ◽  
pp. S326 ◽  
Author(s):  
Arin Buresch ◽  
Mara Rosner ◽  
Barrie Suskin ◽  
Francine Einstein ◽  
Emnonila Bircaj ◽  
...  
Keyword(s):  
Diagnostic Testing ◽  
First Trimester ◽  
First Trimester Screening ◽  
Cell Free Dna ◽  
Free Dna ◽  
Trimester Screening

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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