[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]. / Performance et indication du dépistage des trisomies 21, 18 et 13 en France par l'analyse de l'ADN fÅtal dans le sang maternel.
J Gynecol Obstet Biol Reprod (Paris)
; 45(6): 633-40, 2016 Jun.
Article
em Fr
| MEDLINE
| ID: mdl-26518155
ABSTRACT
OBJECTIVES:
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. MATERIALS ANDMETHODS:
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.CONCLUSION:
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Complicações na Gravidez
/
Diagnóstico Pré-Natal
/
Trissomia
/
Testes Genéticos
/
Síndrome de Down
/
Transtornos Cromossômicos
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
País/Região como assunto:
Europa
Idioma:
Fr
Revista:
J Gynecol Obstet Biol Reprod (Paris)
Ano de publicação:
2016
Tipo de documento:
Article