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Wednesday, July 11 • 12:00 - 12:12
Session 5 | Novel approaches to predict adverse fetal outcome: 5-2 Is cell-free DNA testing appropriate in fetuses with increased nuchal translucency?

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Is cell-free DNA testing appropriate in fetuses with increased nuchal translucency?
Jezid Miranda1, Virginia Borobio2, Celia Badenas3, Laia Rodriguez-Revenga3, Antoni Borrell4

1Fetal i+D Fetal Medicine Research, BCNatal – Barcelona Center for Maternal-Fetal and Neonatal Medicine, Barcelona, Spain
2Department of Maternal-Fetal Medicine, Institute Gynecology, Obstetrics and Neonatology, Hospital Clínic Barcelona, Barcelona, Spain
3Hospital Clínic – Centro de Diagnóstico Biomédico – Bioquímica y Genética Molecular, Barcelona, Spain, Barcelona, Spain
4Department of Maternal-Fetal Medicine, Institute Gynecology, Obstetrics and Neonatology, Hospital Clinic of Barcelona, Barcelona, Spain
Objectives
Cell-free DNA is currently considered an advanced screening test, however, its utility in patients with an abnormal first-trimester ultrasound remains to be established. The objective of this study was to assess the frequency of atypical and submicroscopic chromosomal anomalies (not detectable using standard cell-free DNA testing), as well as fetal structural abnormalities observed at the first-trimester scan, in fetuses with an increased nuchal translucency (NT).
Methods
Prospective cohort study. From January 2013 to December 2017, 227 fetuses with an NT ≥ 99th centile at 11-13 weeks' gestation underwent genetic testing in chorionic villi by means of QF-PCR and chromosomal microarray analysis (CMA), in a clinical setting in which more than 95% of pregnant women receive first-trimester combined screening. The frequency of common, atypical and submicroscopic chromosomal anomalies (not detectable using standard cell-free DNA testing), as well as fetal structural abnormalities observed at the first-trimester scan, was determined in the study group. 
Results
In 67 cases (30%) common aneuploidies (involving chromosomes 13, 18, 21 or X) were identified. Among the remaining 160 fetuses that would receive a theoretical negative cell-free DNA, five (3.1%) had a clinically relevant atypical chromosomal anomaly (two triploidies, two mosaicisms, and one monosomy 5), and six (3.8%) had submicroscopic anomalies. Finally, among the 149 fetuses with normal QF-PCR and CMA, a major fetal malformation was observed in 16 (11%) fetuses at the early anomaly scan, and in 18 (12%) in the second or third trimester.
Conclusions
Cell-free DNA does not appear to be the appropriate genetic test in fetuses with a NT above the 99th centile, given that 6.9% of them will have a chromosomal anomaly not detectable with the current tests. Additionally, 11% of those fetuses will have a major structural abnormality identifiable using first-trimester ultrasound.

Moderators
avatar for Monique Haak

Monique Haak

Gynaecologist, Leiden University Medical Center (LUMC)
avatar for Sebastian Illanes

Sebastian Illanes

Feto Maternal Medicine, Universidad de los Andes

Speakers
avatar for Jezid Miranda

Jezid Miranda

Fetal i+D Fetal Medicine Research, BCNatal – Barcelona Center for Maternal-Fetal and Neonatal Medicine


Wednesday July 11, 2018 12:00 - 12:12 CEST
Okapi Room 2&3