Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

Prenatal Diagnosis
Zandra DeansLyn Chitty

Abstract

Non-invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here, we aim to present minimum best practice guidelines. All laboratories registered in the three European quality assurance schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis. Laboratories delivering NIPT for aneuploidy were asked to submit two example reports; one high and one low risk result. Reports were reviewed for content and discussed at a meeting of laboratory providers and clinicians held at the ISPD 2016 conference in Berlin. Of the 122 laboratories that responded, 50 issued reports for NIPT and 43 of these submitted sample reports. Responses and reports were discussed by 72 attendees at the meeting. Consensus opinion was determined in several areas and used to develop best practice guidelines for reporting of NIPT results. Across Europe, there is considerable variation in reporting NIPT results. Here, we describe minimum best practice guidelines, which will be distributed to Europea...Continue Reading

References

Apr 5, 2013·Prenatal Diagnosis·Eric WangArnold Oliphant
Jul 3, 2013·Cytogenetic and Genome Research·A SimonsR J Hastings
Sep 12, 2013·European Journal of Human Genetics : EJHG·Heather SkirtonLyn Chitty
Sep 21, 2013·Clinical Chemistry·Richard P RavaDiana W Bianchi
Aug 8, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jia-Chi WangCharles M Strom
Feb 3, 2015·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M M GilK H Nicolaides
Mar 19, 2015·European Journal of Human Genetics : EJHG·Wybo DondorpUNKNOWN American Society of Human Genetics
Apr 2, 2015·The New England Journal of Medicine·Mary E NortonRonald J Wapner
Jun 19, 2015·Prenatal Diagnosis·Mollie A MinearSubhashini Chandrasekharan
Jan 28, 2016·Prenatal Diagnosis·Francesco FiorentinoFrancesca Spinella
Jul 29, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Anthony R GreggMichael S Watson
Nov 5, 2016·Prenatal Diagnosis·Rashmi R RaoLawrence D Platt

❮ Previous
Next ❯

Citations

Dec 11, 2019·Prenatal Diagnosis·Lisa Hui, Diana W Bianchi
Apr 4, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Brian G SkotkoAnthony R Gregg
Oct 3, 2018·European Journal of Human Genetics : EJHG·Marisa SilvaRos Hastings

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR
genotyping

Software Mentioned

EQA

Related Concepts