title: [Performance and indications of noninvasive prenatal testing using cell free circulating fetal DNA (cffDNA) for the detection of fetal trisomy 21, 18 and 13 in France].
abstract: OBJECTIVE
  To evaluate de performances of noninvasive prenatal testing using cell free circulating fetal DNA (cffDNA) for the detection of fetal trisomy 21, 18 and 13 in a French population.
  
  
  METHODS
  cffDNA analysis was performed by massive parallel sequencing during a multicenter, non interventional, prospective study and the results were compared with a standard fetal karyotype.
  
  
  RESULTS
  Results were available for 886 patients who have been classified as high- or moderate-risk depending on the presence of fetal abnormalities on ultrasound examination. For the high-risk group (n=376), the sensitivity and specificity of the test were 100% and 99.9% for trisomy 21, 88% and 99.9% for trisomy 18 and 100% and 99.9% for trisomy 13. The rate of other pathogenic chromosomal abnormalities with a negative NIPT was 7.9%. In the low-risk group (n=510), the sensitivity was 100% and the specificity 99.8% for trisomy 21, and only 0.4% of pathogenic chromosomal abnormalities were revealed by fetal karyotyping but not detected by cffDNA analysis.
  
  
  CONCLUSIONS
  Noninvasive prenatal testing using cffDNA for high risk patients without fetal anomalies at ultrasound could be recommended in France after counseling on the possible risk of undiagnosed anomalies.
authors.affiliation: Service de gynécologie-obstétrique et médecine de la reproduction, hôpital Antoine-Béclère, 157, rue de la Porte-de-Trivaux, 92140 Clamart, France; Université Paris Sud, 91405 Orsay, France. Electronic address: alexandra.benachi@abc.aphp.fr.
authors.forename: A
authors.initials: A
authors.lastname: Benachi
authors.affiliation: Service de gynécologie-obstétrique et médecine de la reproduction, hôpital Antoine-Béclère, 157, rue de la Porte-de-Trivaux, 92140 Clamart, France; Université Paris Sud, 91405 Orsay, France.
authors.forename: A
authors.initials: A
authors.lastname: Letourneau
authors.affiliation: Laboratoire CERBA, 93400 Saint-Ouen-l'Aumône, France.
authors.forename: P
authors.initials: P
authors.lastname: Kleinfinger
authors.affiliation: Université Paris Sud, 91405 Orsay, France; Gynécologie-obstétrique, hôpital Bicêtre, 94270 Le Kremlin-Bicêtre, France.
authors.forename: M-V
authors.initials: MV
authors.lastname: Senat
authors.affiliation: Centre de diagnostic prénatal, hôpital américain de Paris, 92200 Neuilly-sur-Seine, France.
authors.forename: E
authors.initials: E
authors.lastname: Gautier
authors.affiliation: Gynécologie-obstétrique, SIHCUS-CMCO, 67303 Schiltigheim, France.
authors.forename: R
authors.initials: R
authors.lastname: Favre
authors.affiliation: Gynécologie-obstétrique, centre hospitalier René-Dubos, 95300 Pontoise, France.
authors.forename: L
authors.initials: L
authors.lastname: Bidat
authors.affiliation: Centre de diagnostic prénatal, centre hospitalier régional universitaire, 59000 Lille, France.
authors.forename: V
authors.initials: V
authors.lastname: Houfflin-Debarge
authors.affiliation: Service de gynécologie-obstétrique et médecine de la reproduction, hôpital Antoine-Béclère, 157, rue de la Porte-de-Trivaux, 92140 Clamart, France.
authors.forename: V
authors.initials: V
authors.lastname: Querol
authors.affiliation: Université Paris Sud, 91405 Orsay, France; Inserm, U1018, 94270 Le Kremlin-Bicêtre, France.
authors.forename: J
authors.initials: J
authors.lastname: Bouyer
authors.affiliation: Laboratoire CERBA, 93400 Saint-Ouen-l'Aumône, France.
authors.forename: J-M
authors.initials: JM
authors.lastname: Costa
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis*; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005602:France; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood*; D011296:Prenatal Diagnosis / Q000379:methods / Q000592:standards*; D011446:Prospective Studies; D012680:Sensitivity and Specificity; D014314:Trisomy / Q000175:diagnosis*; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome
keywords: ADN fœtal circulant; Cell free fetal DNA; Dépistage non invasif; Noninvasive testing