Download PDF
CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2018; 05(03): 139-143
DOI: 10.1007/s40556-018-0177-z
Original Article

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

Sarang Younesi
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Shahram Savad
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Soudeh Ghafouri-Fard
2   Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
,
Mohammad Mahdi Taheri-Amin
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Pourandokht Saadati
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Soudabeh Jamali
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Payam Balvayeh
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Saeed Delshad
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Fariba Navidpour
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Farzaneh Adiban
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Saloomeh Amidi
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
,
Mohammad Hossein Modarressi
1   Prenatal Diagnosis Ward, Niloo Clinical Laboratory, Tehran, Iran
3   Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
› Author Affiliations
› Further Information
Also available at
  PDF Download Permissions and Reprints

Abstract

Analysis of cell-free DNA in maternal blood has been proposed as a novel screening method for evaluation of aneuploidies. The higher performance of this technique in screening of trisomies compared to all currently available methods would lead to widespread use of this technique in clinical settings. In total, 1,066,829 singleton pregnancies referred to Nilou Clinical Laboratory were screened for chromosomal trisomies during a period of 12 years. First-trimester screening (FTS), Triple and Quad markers of second-trimester screening (STS) as well as integrated results have been obtained from 444,515, 34,984, 560,857 and 26,473 singleton pregnancies respectively. Non-invasive prenatal test (NIPT) using cfDNA was applied in 3500 pregnant women. Risk cutoffs, detection rates (DRs) and false positive rates (FPRs) were assessed for combinations of screening strategies to identify the most efficient strategy for contingent cfDNA testing. Contingent screening including FTS and NIPT offer to 20% of cases would lead to detection of 98% of fetuses with trisomy 21 at a total invasive testing rate of 1.1%. Contingent screening including STS and NIPT offer to 9.0% of cases would lead to detection of 95.5% of fetuses with trisomy 21 at a total invasive testing rate of 4.5%. Contingent screening including FTS or STS and cfDNA testing are efficient strategies for screening of trisomy 21.

Keywords

Cell free DNA - Trisomy - First trimester screening - Second trimester screening - NIPT - Detection rate


Publication History

Received: 30 November 2017

Accepted: 15 May 2018

Article published online:
08 May 2023

© 2018. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India