NIPT Resources
We offer you these up-to-date resources so you can keep up on the latest published evidence and clinical guidelines in the NIPT space. The Harmony® prenatal test is the most broadly studied cell-free DNA test with greater than 330,000 women studied in peer-reviewed publications.*
Cell-free DNA analysis for noninvasive examination of trisomy
Cell-free DNA analysis for noninvasive examination of trisomy
Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: A systematic review and meta-analysis
Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: A systematic review and meta-analysis
Accuracy and reproducibility of fetal-fraction measurement using relative quantitation at polymorphic loci with microarray
Accuracy and reproducibility of fetal-fraction measurement using relative quantitation at polymorphic loci with microarray
Factors associated with obtaining results on repeat cell-free DNA testing in samples redrawn due to insufficient fetal fraction
Factors associated with obtaining results on repeat cell-free DNA testing in samples redrawn due to insufficient fetal fraction
Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test
Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test
Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort
Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort
First-trimester Ultrasound and Cell-Free DNA Screening: Improved Patient Care
First-trimester Ultrasound and Cell-Free DNA Screening: Improved Patient Care
Discordance in Fetal Sex Determination Using cfDNA and Ultrasound: An Overview and Resources for Management
Discordance in Fetal Sex Determination Using cfDNA and Ultrasound: An Overview and Resources for Management
ACOG Practice bulletin: Screening for Fetal Chromosomal Abnormalities
ACOG Practice bulletin: Screening for Fetal Chromosomal Abnormalities
Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies
Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies
No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes
No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes
Non-invasive pre-natal screening (NIPs) for fetal chromosome abnormalities in a general risk population: An evidence based clinical guideline of The American College of Medical Genetics and Genomics (ACMG)
Non-invasive pre-natal screening (NIPs) for fetal chromosome abnormalities in a general risk population: An evidence based clinical guideline of The American College of Medical Genetics and Genomics (ACMG)
*Number of publications in peer-reviewed journals as of Dec. 2023. Analytical validation, clinical validation, clinical experience and other studies. Data on file with Roche.