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Diagnostic accuracy of cell-free DNA in maternal blood in detecting chromosomal anomalies in twin pregnancies: systematic review and meta-analysis.
Della Valle, L; Piergianni, M; Khalil, A; Novelli, A; Rizzo, G; Mappa, I; Prasad, S; Matarrelli, B; Gatta, V; Stuppia, L; Pagani, G; Flacco, M E; D'Antonio, F.
Afiliación
  • Della Valle L; Center for Fetal Care and High-Risk Pregnancy, University of Chieti, Chieti, Italy.
  • Piergianni M; Center for Fetal Care and High-Risk Pregnancy, University of Chieti, Chieti, Italy.
  • Khalil A; Fetal Medicine Unit, St George's University Hospital, London, UK.
  • Novelli A; Vascular Biology Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.
  • Rizzo G; Twins Trust Centre for Research and Clinical Excellence, St George's University Hospital, St George's University of London, London, UK.
  • Mappa I; Fetal Medicine Unit, Liverpool Women's Hospital, University of Liverpool, Liverpool, UK.
  • Prasad S; Department of Genetic, Ospedale pediatrico Bambino Gesù, Roma, Italy.
  • Matarrelli B; Department of Obstetrics and Gynecology, Università Tor Vergata, Roma, Italy.
  • Gatta V; Department of Obstetrics and Gynecology, Università Tor Vergata, Roma, Italy.
  • Stuppia L; Fetal Medicine Unit, St George's University Hospital, London, UK.
  • Pagani G; Center for Fetal Care and High-Risk Pregnancy, University of Chieti, Chieti, Italy.
  • Flacco ME; Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
  • D'Antonio F; Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
Ultrasound Obstet Gynecol ; 2024 May 22.
Article en En | MEDLINE | ID: mdl-38775911
ABSTRACT

OBJECTIVES:

To report the diagnostic accuracy of cell-free DNA (cfDNA) in maternal blood in detecting chromosomal anomalies in twin pregnancies.

METHODS:

Medline, Embase and Cochrane databases were searched. The inclusion criteria were twin pregnancies undergoing cfDNA screening for Trisomies 13, 18, 21, monosomy X0 and other sex chromosomal anomalies (SCA). The index test was represented by a positive results of cfDNA test. The reference standard was represented by the karyotype results (obtained either pre or postnatally) or, in case of negative cfDNA result, by a normal neonatal phenotype. The quality of the studies was assessed using the revised tool for the quality assessment of diagnostic accuracy studies (QUADAS-2). Summary estimates of sensitivity, specificity, positive and negative likelihood ratios (LR+ and LR-) and diagnostic odds ratio (DOR), with the corresponding 95% Confidence Intervals (95% CI), were computed using the bivariate random-effects model.

RESULTS:

Thirty-five studies were included. cfDNA had an overall high accuracy in detecting Trisomy 21 in twin pregnancies with a sensitivity of 98.8% (95% CI 96.5-100), a specificity of 100% (95% CI 99.9-100). Sensitivity and specificity were of 94.9% (95% CI 75.6-99.1) and 100 (95% CI 99.9-100) for Trisomy 18, and 84.6% (95% C% 54.6-98.1) and 100% (95% CI 99.9-100) for Trisomy 13 . We could not compute the diagnostic accuracy of cfDNA in detecting monosomy X0 in twins, while cfDNA had a sensitivity of 100% (95% CI 71.5-100) and a specificity of 99.8% (95% CI 99.7-99.9) in detecting other SCA (11 cases). The accuracy of cfDNA in detecting Trisomy 21, 18 and 13 was similar in dichorionic and monochorionic twin pregnancies.

CONCLUSION:

cfDNA has a high diagnostic accuracy in detecting Trisomy 18 and 21 in twin pregnancies, irrespective of chorionicity. Accuracy in the detection of Trisomy 13 and SCA was limited by the small number of affected cases and the difficulties in the confirmation of false negative cases in case of SCA and requires confirmation in larger studies. This article is protected by copyright. All rights reserved.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Ultrasound Obstet Gynecol Asunto de la revista: DIAGNOSTICO POR IMAGEM / GINECOLOGIA / OBSTETRICIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Ultrasound Obstet Gynecol Asunto de la revista: DIAGNOSTICO POR IMAGEM / GINECOLOGIA / OBSTETRICIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido