title: Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies.
abstract: OBJECTIVE
  The purpose of this article is to report the clinical experience and performance of massively parallel sequencing-based noninvasive prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, and 13 (T21/T18/T13) in a mixed-risk population in Thailand.
  
  
  METHODS
  In a 30-month period, 121 medical centers in Thailand offered NIPT as clinical screening tests for fetal T21, T18, and T13 in the mixed-risk population. All NIPT-positive cases were recommended to undergo invasive prenatal diagnosis.
  
  
  RESULTS
  A total of 4736 participants received the NIPT test, including 2840 high-risk pregnancies, either with advanced maternal age or positive serum biochemical tests, and 1889 low-risk pregnancies without conventional indications; 99.9% (4732/4736) of the participants with a median maternal age of 35 years old received reports, and 1.3% (63/4732) were classified as test positive, including 36 T21, 19 T18, and 8 T13; 82.5% (52/63) took prenatal diagnosis, and 11.5% (6/52) false-positive cases were observed. The positive predictive values for the detection of T21, T18, and T13 were 94.4%, 79.0%, and 87.5%, respectively.
  
  
  CONCLUSIONS
  With stringent protocol, our prospective large-scale multicenter nationwide study demonstrated that NIPT showed excellent performance as screening tests for the detection of fetal T21, T18, and T13 in mixed-risk pregnancies in Thailand.
authors.affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.|King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, 10330, Thailand.
authors.forename: S
authors.initials: S
authors.lastname: Manotaya
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: H
authors.initials: H
authors.lastname: Xu
authors.affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.|King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, 10330, Thailand.
authors.forename: B
authors.initials: B
authors.lastname: Uerpairojkit
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.|Section of Molecular Disease Biology, Department of Veterinary Disease Biology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
authors.forename: F
authors.initials: F
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.|King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, 10330, Thailand.
authors.forename: D
authors.initials: D
authors.lastname: Charoenvidhya
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: H
authors.initials: H
authors.lastname: Liu
authors.affiliation: Bangkok R.I.A Lab.Co., LTD, Bangkok, 10330, Thailand.
authors.forename: N
authors.initials: N
authors.lastname: Petcharaburanin
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Liu
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: S
authors.initials: S
authors.lastname: Tang
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.affiliation: Life Science Lab Co., LTD, Bangkok, 10330, Thailand.
authors.forename: S
authors.initials: S
authors.lastname: Dansakul
authors.affiliation: Life Science Lab Co., LTD, Bangkok, 10330, Thailand.
authors.forename: T
authors.initials: T
authors.lastname: Thomsopa
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Gao
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: H
authors.initials: H
authors.lastname: Xu
authors.affiliation: BGI clinical laboratory-Shenzhen, Shenzhen, 518083, China.|BGI-Shenzhen, Shenzhen, 518083, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis*; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005820:Genetic Testing / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D008423:Maternal Age; D008875:Middle Aged; D011247:Pregnancy; D018566:Pregnancy, High-Risk / Q000097:blood; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D013785:Thailand; D014314:Trisomy / Q000175:diagnosis*; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome; D055815:Young Adult