Table 4:

Characteristics of Included Studies on NIPT Accuracy or Clinical Utility

Author, Year, Country	N	Study Design	Inclusion Criteria	Conditions Tested	NIPT Method, Index Test	Reference Standard(s)	Study Funding
Comparative Studies
Bianchi et al, 2014,52 United States	2,052	Prospective, comparative	Pregnant people ≥ 18 years old, ≥ 8 weeks’ gestation Exclusion: people who had diagnostic testing within 2 weeks prior to enrolment, or had only NT ultrasound	Trisomies 21, 18, and 13	Verifi test, MPSS	Fetal karyotype Neonate examination Birth medical record	Illumina, Inc.
Langlois et al, 2017,54 Canada	1,165	Prospective, comparative	Pregnant people ≥ 19 years old, singleton pregnancy, < 14 weeks’ gestation	Trisomies 21, 18, and 13	Harmony test, targeted approach (DANSR)	Fetal karyotype Neonate examination Birth medical record	Genome Canada, Quebec, British Columbia, and Alberta Quebec ministry Ariosa Diagnostics (arms’ length)
Norton et al, 2015,56 International	18,955	Prospective, comparative	Pregnant people ≥ 18 years old, 10–14 weeks’ gestation Exclusion: people who had a pregnancy loss, or chose to terminate with confirmatory diagnostic testing	Trisomies 21, 18, and 13, other aneuploidies	Harmony test, targeted approach (DANSR)	Fetal karyotype Neonate examination Birth medical record	Ariosa Diagnostics Perinatal Quality Foundation
Quezada et al, 2015,58 United Kingdom	2,905	Prospective, comparative	Pregnant people 10–11 weeks’ gestation, singleton pregnancy, who had combined test	Trisomies 21, 18, and 13	Harmony test, targeted approach (DANSR)	Fetal karyotype	Fetal Medicine Foundation
Song et al, 2013,59 China	1,916	Prospective, comparative	Pregnant people < 35 years old, singleton pregnancies No a priori risk of aneuploidy and undergoing routine prenatal screening	Trisomies 21, 18, and 13, sex chromosome aneuploidies	Illumina HiSeq platform, MPSS	Fetal karyotype Cord blood Birth medical record	Chinese National Key Technology Research and Development Program
Noncomparative Studies
del Mar Gil et al, 2014,53 United Kingdom	207	Retrospective, noncomparative	Pregnant people without a priori risk, undergoing first-trimester screening, twin pregnancies, 11–13 weeks’ gestation	Trisomies 21, 18, and 13	Harmony test, targeted approach (DANSR)	Fetal karyotype	Fetal Medicine Foundation Ariosa Diagnostics (provided test and analysis only)
Nicolaides et al, 2012,55 United Kingdom	2,230	Retrospective, noncomparative	Pregnant people 11–13.9 weeks’ gestation, singleton pregnancy, archived sample ≥ 2 mL	Trisomies 21 and 18	Harmony test, targeted approach (DANSR)	Fetal karyotype Neonate examination	Fetal Medicine Foundation Ariosa Diagnostics (provided test and analysis only)
Palomaki et al, 2017,57 United States	2,691	Prospective, noncomparative	Pregnant people ≥ 10 weeks’ gestation, satisfy inclusion criteria for Panorama test	Trisomies 21, 18, and 13, monosomy X	Panorama test, targeted approach (single nucleotide polymorphism based)	Fetal karyotype Newborn karyotype and examination	Natera, Inc. (no involvement)

Abbreviations: DANSR, Digital Analysis of Selected Regions; MPSS, massively parallel shotgun sequencing; NIPT, noninvasive prenatal testing; NT, nuchal translucency.