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Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects

OBJECTIVE: Noninvasive Prenatal Diagnosis has recently been introduced for a limited number of monogenetic disorders. However, the majority of DNA diagnostics still require fetal material obtained using an invasive test. Recently, a novel technique, TRIC (Trophoblast Retrieval and Isolation from the...

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Autores principales: van Dijk, Marie, Boussata, Souad, Janssen, Dianta, Afink, Gijs, Jebbink, Jiska, van Maarle, Merel, Wortelboer, Esther, Kooper, Angelique, Pajkrt, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098821/
https://www.ncbi.nlm.nih.gov/pubmed/36336875
http://dx.doi.org/10.1002/pd.6260
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author van Dijk, Marie
Boussata, Souad
Janssen, Dianta
Afink, Gijs
Jebbink, Jiska
van Maarle, Merel
Wortelboer, Esther
Kooper, Angelique
Pajkrt, Eva
author_facet van Dijk, Marie
Boussata, Souad
Janssen, Dianta
Afink, Gijs
Jebbink, Jiska
van Maarle, Merel
Wortelboer, Esther
Kooper, Angelique
Pajkrt, Eva
author_sort van Dijk, Marie
collection PubMed
description OBJECTIVE: Noninvasive Prenatal Diagnosis has recently been introduced for a limited number of monogenetic disorders. However, the majority of DNA diagnostics still require fetal material obtained using an invasive test. Recently, a novel technique, TRIC (Trophoblast Retrieval and Isolation from the Cervix), has been described, which collects fetal trophoblast cells by endocervical sampling. Since this technique has not been successfully replicated by other groups, we aimed to achieve this in the current study. METHOD: Pregnant women referred for transvaginal chorionic villous sampling (CVS) were asked for an endocervical sample prior to CVS. The TRIC samples were processed to isolate trophoblast DNA. TRIC DNA was used in ForenSeq to determine the amount of maternal DNA contamination, and for Sanger sequencing in case of a monogenic disorder. RESULTS: 23%–44% of samples had a sufficiently high fetal DNA fraction to allow genetic testing, as calculated by Sanger sequencing and ForenSeq, respectively. CONCLUSION: We have been able to successfully replicate the TRIC protocol, although with a much lower success rate as described by the original study performing TRIC. As we obtained the samples in the actual clinical setting envisioned, the method in its current setup is not advisable for use in prenatal diagnostics.
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spelling pubmed-100988212023-04-14 Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects van Dijk, Marie Boussata, Souad Janssen, Dianta Afink, Gijs Jebbink, Jiska van Maarle, Merel Wortelboer, Esther Kooper, Angelique Pajkrt, Eva Prenat Diagn Original Articles OBJECTIVE: Noninvasive Prenatal Diagnosis has recently been introduced for a limited number of monogenetic disorders. However, the majority of DNA diagnostics still require fetal material obtained using an invasive test. Recently, a novel technique, TRIC (Trophoblast Retrieval and Isolation from the Cervix), has been described, which collects fetal trophoblast cells by endocervical sampling. Since this technique has not been successfully replicated by other groups, we aimed to achieve this in the current study. METHOD: Pregnant women referred for transvaginal chorionic villous sampling (CVS) were asked for an endocervical sample prior to CVS. The TRIC samples were processed to isolate trophoblast DNA. TRIC DNA was used in ForenSeq to determine the amount of maternal DNA contamination, and for Sanger sequencing in case of a monogenic disorder. RESULTS: 23%–44% of samples had a sufficiently high fetal DNA fraction to allow genetic testing, as calculated by Sanger sequencing and ForenSeq, respectively. CONCLUSION: We have been able to successfully replicate the TRIC protocol, although with a much lower success rate as described by the original study performing TRIC. As we obtained the samples in the actual clinical setting envisioned, the method in its current setup is not advisable for use in prenatal diagnostics. John Wiley and Sons Inc. 2022-11-12 2022-12 /pmc/articles/PMC10098821/ /pubmed/36336875 http://dx.doi.org/10.1002/pd.6260 Text en © 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Original Articles
van Dijk, Marie
Boussata, Souad
Janssen, Dianta
Afink, Gijs
Jebbink, Jiska
van Maarle, Merel
Wortelboer, Esther
Kooper, Angelique
Pajkrt, Eva
Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects
title Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects
title_full Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects
title_fullStr Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects
title_full_unstemmed Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects
title_short Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects
title_sort tricky tric: a replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098821/
https://www.ncbi.nlm.nih.gov/pubmed/36336875
http://dx.doi.org/10.1002/pd.6260
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