Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.
Fionnuala MoneR Y EberhardtM E HurlesD J McmullanE R MaherJ LordL S ChittyE DempseyT HomfrayJ L GiordanoR J WapnerLu-Ming SunTeresa N SparksM E NortonMark David KilbyPublished in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2021)
Use of prenatal next-generation sequencing in both isolated and non-isolated NIHF should be considered in the development of clinical pathways. Given the wide range of potential syndromic diagnoses and heterogeneity in the prenatal phenotype of NIHF, exome or whole-genome sequencing may prove to be a more appropriate testing approach than a targeted gene panel testing strategy. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Keyphrases
- copy number
- pregnant women
- magnetic resonance imaging
- genome wide
- randomized controlled trial
- ultrasound guided
- intellectual disability
- single cell
- systematic review
- computed tomography
- circulating tumor
- risk assessment
- gene expression
- contrast enhanced ultrasound
- autism spectrum disorder
- human health
- transcription factor