Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell-free fetal DNA analysis.

Alexandre Joseph VivantiJ-M CostaA RosefortP KleinfingerL LohmannA-G CordierAlexandra Benachi

Published in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2018)

HRM combined with SNaPshot minisequencing is a reliable method for NIPT for achondroplasia. Its implementation in routine clinical care combined with ultrasonography is an efficient strategy for the non-invasive diagnosis of achondroplasia. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Keyphrases

cell free
circulating tumor
healthcare
magnetic resonance imaging
contrast enhanced
quality improvement
primary care
palliative care
clinical practice
systematic review
computed tomography
magnetic resonance
affordable care act