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Fetal fraction‐based risk algorithm for non‐invasive prenatal testing: screening for trisomies 13 and 18 and triploidy in women with low cell‐free fetal DNA
- Source :
- Ultrasound in Obstetrics & Gynecology
- Publication Year :
- 2018
- Publisher :
- John Wiley & Sons, Ltd., 2018.
-
Abstract
- Objective To identify pregnancies at increased risk for trisomy 13, trisomy 18 or triploidy attributable to low fetal fraction (FF). Methods A FF‐based risk (FFBR) model was built using data from more than 165 000 singleton pregnancies referred for single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal testing (NIPT). Based on maternal weight and gestational age (GA), FF distributions for normal, trisomy 13, trisomy 18 and triploid pregnancies were constructed and used to adjust prior risks for these abnormalities. A risk cut‐off of ≥ 1% was chosen to define pregnancies at high risk for trisomy 13, trisomy 18 or triploidy (high FFBR score). The model was evaluated on an independent blinded set of pregnancies for which SNP‐based NIPT did not return a result, and for which pregnancy outcome information was gathered retrospectively. Results The evaluation cohort comprised 1148 cases, of which approximately half received a high FFBR score. Compared with rates expected based on maternal age (MA) and GA, cases with a high FFBR score had a significantly increased rate of trisomy 13, trisomy 18 or triploidy combined (5.7% vs 0.7%; P
- Subjects :
- Trisomy 13 Syndrome
maternal weight
Chromosome Disorders
Cohort Studies
0302 clinical medicine
Obstetrics and gynaecology
Pregnancy
Risk Factors
Prenatal Diagnosis
030212 general & internal medicine
guidelines
030219 obstetrics & reproductive medicine
Radiological and Ultrasound Technology
Incidence (epidemiology)
Obstetrics and Gynecology
Gestational age
General Medicine
Middle Aged
Original Papers
Cell-free fetal DNA
Cohort
Female
Algorithm
Cell-Free Nucleic Acids
Algorithms
Adult
triploidy
Adolescent
Gestational Age
Sensitivity and Specificity
03 medical and health sciences
Young Adult
fetal fraction
Predictive Value of Tests
medicine
Humans
Radiology, Nuclear Medicine and imaging
Fetus
Original Paper
trisomy
business.industry
Infant, Newborn
medicine.disease
Reproductive Medicine
prenatal screening
pregnancy loss
Down Syndrome
Trisomy
business
NIPT
Trisomy 18 Syndrome
Subjects
Details
- Language :
- English
- ISSN :
- 14690705 and 09607692
- Volume :
- 53
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Ultrasound in Obstetrics & Gynecology
- Accession number :
- edsair.doi.dedup.....e1c12f5b80e4f6a40e9e17daa8740021