Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? – Experience at a district general hospital in the United Kingdom

The non-invasive prenatal testing (NIPT) analyses cell-free DNA (cfDNA) derived from the placental tissue in the maternal circulation. Though highly sensitive and specific, a major limitation is in cases of confined placental mosaicism (CPM). Whether to perform chorionic villus sampling (CVS) or amn...

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Detalles Bibliográficos
Autores principales: Okoror, Collins Ejakhianghe Maximilian, Arora, Suruchi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345242/
https://www.ncbi.nlm.nih.gov/pubmed/37456970
http://dx.doi.org/10.1016/j.eurox.2023.100211
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author Okoror, Collins Ejakhianghe Maximilian
Arora, Suruchi
author_facet Okoror, Collins Ejakhianghe Maximilian
Arora, Suruchi
author_sort Okoror, Collins Ejakhianghe Maximilian
collection PubMed
description The non-invasive prenatal testing (NIPT) analyses cell-free DNA (cfDNA) derived from the placental tissue in the maternal circulation. Though highly sensitive and specific, a major limitation is in cases of confined placental mosaicism (CPM). Whether to perform chorionic villus sampling (CVS) or amniocentesis to confirm a positive NIPT result is controversial. One major drawback of CVS is that cytogenetic diagnosis may not always reflect the true chromosomal make-up of the fetus. This work, therefore, proposes the use of amniocentesis in the presence of normal ultrasound findings, and the option of either CVS or amniocentesis when there are abnormal USS findings.
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spelling pubmed-103452422023-07-15 Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? – Experience at a district general hospital in the United Kingdom Okoror, Collins Ejakhianghe Maximilian Arora, Suruchi Eur J Obstet Gynecol Reprod Biol X Review The non-invasive prenatal testing (NIPT) analyses cell-free DNA (cfDNA) derived from the placental tissue in the maternal circulation. Though highly sensitive and specific, a major limitation is in cases of confined placental mosaicism (CPM). Whether to perform chorionic villus sampling (CVS) or amniocentesis to confirm a positive NIPT result is controversial. One major drawback of CVS is that cytogenetic diagnosis may not always reflect the true chromosomal make-up of the fetus. This work, therefore, proposes the use of amniocentesis in the presence of normal ultrasound findings, and the option of either CVS or amniocentesis when there are abnormal USS findings. Elsevier 2023-07-01 /pmc/articles/PMC10345242/ /pubmed/37456970 http://dx.doi.org/10.1016/j.eurox.2023.100211 Text en © 2023 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Okoror, Collins Ejakhianghe Maximilian
Arora, Suruchi
Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? – Experience at a district general hospital in the United Kingdom
title Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? – Experience at a district general hospital in the United Kingdom
title_full Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? – Experience at a district general hospital in the United Kingdom
title_fullStr Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? – Experience at a district general hospital in the United Kingdom
title_full_unstemmed Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? – Experience at a district general hospital in the United Kingdom
title_short Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? – Experience at a district general hospital in the United Kingdom
title_sort prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? – experience at a district general hospital in the united kingdom
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345242/
https://www.ncbi.nlm.nih.gov/pubmed/37456970
http://dx.doi.org/10.1016/j.eurox.2023.100211
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