The introduction of Next Generation Sequencing (NGS) technologies has exerted a significant impact on prenatal diagnosis. Prenatal Exome Sequencing (pES) is performed with increasing frequency in fetuses with structural anomalies and negative chromosomal analysis. The actual diagnostic value varies extensively, and the role of incidental/secondary or inconclusive findings and negative results has not been fully ascertained. We performed a systematic literature review to evaluate the diagnostic yield, as well as inconclusive and negative-result rates of pES. Papers were divided in two groups. The former includes fetuses presenting structural anomalies, regardless the involved organ; the latter focuses on specific class anomalies. Available findings on non-informative or negative results were gathered as well. In the first group, the weighted average diagnostic yield resulted 19%, and inconclusive finding rate 12%. In the second group, the percentages were extremely variable due to differences in sample sizes and inclusion criteria, which constitute major determinants of pES efficiency. Diagnostic pES availability and its application have a pivotal role in prenatal diagnosis, though more homogeneity in access criteria and a consensus on clinical management of controversial information management is envisageable to reach widespread use in the near future.

Prenatal exome sequencing: background, current practice and future perspectives - A systematic review / Guadagnolo, Daniele; Mastromoro, Gioia; Di Palma, Francesca; Pizzuti, Antonio; Marchionni, Enrica. - In: DIAGNOSTICS. - ISSN 2075-4418. - 11:2(2021). [10.3390/diagnostics11020224]

Prenatal exome sequencing: background, current practice and future perspectives - A systematic review

Guadagnolo, Daniele
Primo
;
Mastromoro, Gioia
Secondo
;
Pizzuti, Antonio;Marchionni, Enrica
Ultimo
2021

Abstract

The introduction of Next Generation Sequencing (NGS) technologies has exerted a significant impact on prenatal diagnosis. Prenatal Exome Sequencing (pES) is performed with increasing frequency in fetuses with structural anomalies and negative chromosomal analysis. The actual diagnostic value varies extensively, and the role of incidental/secondary or inconclusive findings and negative results has not been fully ascertained. We performed a systematic literature review to evaluate the diagnostic yield, as well as inconclusive and negative-result rates of pES. Papers were divided in two groups. The former includes fetuses presenting structural anomalies, regardless the involved organ; the latter focuses on specific class anomalies. Available findings on non-informative or negative results were gathered as well. In the first group, the weighted average diagnostic yield resulted 19%, and inconclusive finding rate 12%. In the second group, the percentages were extremely variable due to differences in sample sizes and inclusion criteria, which constitute major determinants of pES efficiency. Diagnostic pES availability and its application have a pivotal role in prenatal diagnosis, though more homogeneity in access criteria and a consensus on clinical management of controversial information management is envisageable to reach widespread use in the near future.
ES; NGS; pES; prenatal diagnosis; prenatal exome sequencing; systematic review
01 Pubblicazione su rivista::01g Articolo di rassegna (Review)
Prenatal exome sequencing: background, current practice and future perspectives - A systematic review / Guadagnolo, Daniele; Mastromoro, Gioia; Di Palma, Francesca; Pizzuti, Antonio; Marchionni, Enrica. - In: DIAGNOSTICS. - ISSN 2075-4418. - 11:2(2021). [10.3390/diagnostics11020224]
File allegati a questo prodotto
File Dimensione Formato  
Guadagnolo_Prenatal-exome_2021.pdf

accesso aperto

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Creative commons
Dimensione 1.83 MB
Formato Adobe PDF
1.83 MB Adobe PDF Visualizza/Apri PDF

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1496141
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 11
  • ???jsp.display-item.citation.isi??? 12
social impact