title: Informatics-based, highly accurate, noninvasive prenatal paternity testing.
abstract: OBJECTIVE
  The aim of the study was to evaluate the diagnostic accuracy of an informatics-based, noninvasive, prenatal paternity test using array-based single-nucleotide polymorphism measurements of cell-free DNA isolated from maternal plasma.
  
  
  METHODS
  Blood samples were taken from 21 adult pregnant women (with gestational ages between 6 and 21 weeks), and a genetic sample was taken from the corresponding biological fathers. Paternity was confirmed by genetic testing of the infant, products of conception, control of fertilization, and/or preimplantation genetic diagnosis during in vitro fertilization. Parental DNA samples and maternal plasma cell-free DNA were amplified and analyzed using a HumanCytoSNP-12 array. An informatics-based method measured single-nucleotide polymorphism data, confirming or rejecting paternity. Each plasma sample with a sufficient fetal cell-free DNA fraction was independently tested against the confirmed father and 1,820 random, unrelated males.
  
  
  RESULTS
  One of the 21 samples had insufficient fetal cell-free DNA. The test correctly confirmed paternity for the remaining 20 samples (100%) when tested against the biological father, with P values of <10(-4). For the 36,400 tests using an unrelated male as the alleged father, 99.95% (36,382) correctly excluded paternity and 0.05% (18) were indeterminate. There were no miscalls.
  
  
  CONCLUSIONS
  A noninvasive paternity test using informatics-based analysis of single-nucleotide polymorphism array measurements accurately determined paternity early in pregnancy.
authors.affiliation: Natera Inc, San Carlos, California, USA.
authors.forename: Allison
authors.initials: A
authors.lastname: Ryan
authors.forename: Johan
authors.initials: J
authors.lastname: Baner
authors.forename: Zachary
authors.initials: Z
authors.lastname: Demko
authors.forename: Matthew
authors.initials: M
authors.lastname: Hill
authors.forename: Styrmir
authors.initials: S
authors.lastname: Sigurjonsson
authors.forename: Michael L
authors.initials: ML
authors.lastname: Baird
authors.forename: Matthew
authors.initials: M
authors.lastname: Rabinowitz
mesh_terms: D000328:Adult; D002474:Cell-Free System; D019295:Computational Biology / Q000379:methods; D004247:DNA / Q000097:blood; D005260:Female; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D008297:Male; D010334:Paternity; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods
chemical_list: D004247:DNA