Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants

Line Dahl Jeppesen; Dorte Launholt Lildballe; Lotte Hatt; Jakob Hedegaard; Ripudaman Singh; Christian Liebst Frisk Toft; Palle Schelde; Anders Sune Pedersen; Michael Knudsen; Ida Vogel

doi:10.1002/pd.6276

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants

Line Dahl Jeppesen^*, Dorte Launholt Lildballe, Lotte Hatt, Jakob Hedegaard, Ripudaman Singh, Christian Liebst Frisk Toft, Palle Schelde, Anders Sune Pedersen, Michael Knudsen, Ida Vogel

^*Kontaktforfatter

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

8 Citationer (Scopus)

129 Downloads (Pure)

Abstract

OBJECTIVES: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.

METHODS: Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.

RESULTS: In all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.

CONCLUSION: This study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.

Originalsprog	Engelsk
Tidsskrift	Prenatal Diagnosis
Vol/bind	43
Udgave nummer	1
Sider (fra-til)	3-13
Antal sider	11
ISSN	0197-3851
DOI	https://doi.org/10.1002/pd.6276
Status	Udgivet - jan. 2023

Bibliografisk note

© 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.

En redaktionel kommentar til denne artikel er blevet publiceret her: 10.1097/01.ogx.0000947140.57660.b6

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10.1002/pd.6276Licens: CC BY 4.0

Jeppesen et al (2023) Noninvasive prenatal screening for cystic fibrosis using circulating trophoblastsForlagets udgivne version, 1,15 MBLicens: CC BY 4.0

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title = "Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants",

abstract = "OBJECTIVES: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.METHODS: Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.RESULTS: In all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.CONCLUSION: This study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.",

author = "Jeppesen, {Line Dahl} and Lildballe, {Dorte Launholt} and Lotte Hatt and Jakob Hedegaard and Ripudaman Singh and Toft, {Christian Liebst Frisk} and Palle Schelde and Pedersen, {Anders Sune} and Michael Knudsen and Ida Vogel",

note = "{\textcopyright} 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. An editorial comment to this article has been published here: 10.1097/01.ogx.0000947140.57660.b6",

year = "2023",

month = jan,

doi = "10.1002/pd.6276",

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T2 - Detection of the 50 most common disease-causing variants

AU - Jeppesen, Line Dahl

AU - Lildballe, Dorte Launholt

AU - Hatt, Lotte

AU - Hedegaard, Jakob

AU - Singh, Ripudaman

AU - Toft, Christian Liebst Frisk

AU - Schelde, Palle

AU - Pedersen, Anders Sune

AU - Knudsen, Michael

AU - Vogel, Ida

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N2 - OBJECTIVES: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.METHODS: Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.RESULTS: In all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.CONCLUSION: This study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.

AB - OBJECTIVES: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.METHODS: Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.RESULTS: In all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.CONCLUSION: This study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.

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Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants

Abstract

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