title: Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population.
abstract: OBJECTIVE
  The recently developed noninvasive prenatal test (NIPT) presents a new era of prenatal screening. Previously reported studies were primarily conducted on high-risk and advanced maternal age (AMA) pregnancies. We sought to evaluate the performance of NIPT for detection of fetal aneuploidies in a Chinese cohort of women younger than 35 years old in a prospective clinical setting.
  
  
  METHODS
  Maternal plasma samples were sequenced to identify the aneuploidies. The results were compared against the serum screening results and validated by karyotyping through invasive procedures and birth follow-up.
  
  
  RESULTS
  A total of 1916 prospectively collected maternal plasma samples were sequenced, among which 73 samples (3.8%) failed the sequencing quality control. Birth follow-up missed 111 samples (5.8%). The remaining 1741 samples were analyzed. Sequencing reported 15 aneuploidy samples, including all the T21, T18, and T13 cases. Sequencing performed moderately in identifying sex chromosome aneuploidies, detecting two out of four samples, with a specificity of 99.88% (95% CI 99.53% to 99.98%).
  
  
  CONCLUSIONS
  Noninvasive prenatal detection of common fetal aneuploidies is a more sensitive and specific method than triple maternal serum screening. It has a remarkable low false positive rate and is applicable to women younger than 35 years old.
authors.affiliation: Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Yijun
authors.initials: Y
authors.lastname: Song
authors.forename: Congcong
authors.initials: C
authors.lastname: Liu
authors.forename: Hong
authors.initials: H
authors.lastname: Qi
authors.forename: Yunping
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xuming
authors.initials: X
authors.lastname: Bian
authors.forename: Juntao
authors.initials: J
authors.lastname: Liu
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000782:Aneuploidy; D002681:China; D015193:Chorionic Villi Sampling; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007621:Karyotyping; D008423:Maternal Age; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011446:Prospective Studies; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics; D000073842:Trisomy 18 Syndrome; D016216:Ultrasonography, Prenatal
chemical_list: D004247:DNA