[Cell-free fetal DNA analysis in maternal plasma as a screening test for trisomy 21 in twin pregnancies]. / Analyse de l'ADN fÅtal dans le sang maternel comme test de dépistage pour la trisomie 21 pour les grossesses gémellaires.
Gynecol Obstet Fertil Senol
; 46(7-8): 580-586, 2018.
Article
en Fr
| MEDLINE
| ID: mdl-29929941
ABSTRACT
OBJECTIVES:
To evaluate the performance of noninvasive prenatal testing by cell-free circulating fetal DNA in maternal blood (cfDNA) in screening for trisomies 21 in twin pregnancies.METHODS:
CfDNA was performed in 492 patients with twin pregnancies without ultrasound anomalies in the first trimester as a first-line screening test or after serum screening. Data were collected prospectively and a retrospective analysis was done. CfDNA was executed by massive parallel technique. The fetal fraction threshold for test evaluation was 8%. Regression analysis was performed to evaluate the effect of different parameters on the test failure rate. Performance of the test was also considered.RESULTS:
In 377 patients, the test was prescribed first line and in 115 after standard serum screening. Twelve tests (2.9%) have initially failed on the 420 pregnancies with available outcomes and regression analysis found only maternal weight as a significant independent factor of test failure. A second test was performed on 10 patients, all of them had an available result. cfDNA identified all 3 cases of trisomy 21. The sensitivity was 100.0% (95% CI [29.2-100.0%]) and specificity was 99.8% (95% CI [98.7-100.0%]). There was no significant difference between spontaneous pregnancies and those induced by assisted reproductive technologies (ART), in terms of fetal fraction percentage, no-call results for cfDNA screening, maternal weight, or test performance between the two groups.CONCLUSION:
In twin pregnancies without fetal ultrasound abnormalities, the performance and success rate of the cfDNA are excellent. Therefore, cfDNA could be offered in routine practice as a first-line screening test in this population.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
ADN
/
Síndrome de Down
/
Enfermedades en Gemelos
/
Embarazo Gemelar
/
Pruebas de Detección del Suero Materno
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Adult
/
Female
/
Humans
/
Middle aged
/
Pregnancy
Idioma:
Fr
Revista:
Gynecol Obstet Fertil Senol
Año:
2018
Tipo del documento:
Article