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

^*Corresponding author for this work

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

8 Citations (Scopus)

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.

Original language	English
Journal	Prenatal Diagnosis
Volume	43
Issue	1
Pages (from-to)	3-13
Number of pages	11
ISSN	0197-3851
DOIs	https://doi.org/10.1002/pd.6276
Publication status	Published - Jan 2023

Keywords

Cystic Fibrosis/diagnosis
Female
Fetus
Genetic Testing/methods
Humans
Noninvasive Prenatal Testing
Pregnancy
Prenatal Diagnosis/methods
Trophoblasts

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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.",

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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",

year = "2023",

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doi = "10.1002/pd.6276",

language = "English",

volume = "43",

pages = "3--13",

journal = "Prenatal Diagnosis",

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Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants. / Jeppesen, Line Dahl ; Lildballe, Dorte Launholt; Hatt, Lotte et al.
In: Prenatal Diagnosis, Vol. 43, No. 1, 01.2023, p. 3-13.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts

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

PY - 2023/1

Y1 - 2023/1

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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KW - Genetic Testing/methods

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KW - Prenatal Diagnosis/methods

KW - Trophoblasts

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

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