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Akademický článek

Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

Autor: Lotte Hatt, Ripudaman Singh, Rikke Christensen, Katarina Ravn, Inga B Christensen, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Mathias Kølvraa, Palle Schelde, Lotte Andreassen, Richard Farlie, Niels Uldbjerg, Ida Vogel

Publikováno v: Clinical Case Reports, Vol 8, Iss 12, Pp 2561-2567 (2020)

Abstract In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.

Externí odkaz: https://doaj.org/article/49ba351be5324a298550ce58e81a9ef7

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Akademický článek

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy

Autor: Line Dahl Jeppesen, Tina Duelund Hjortshøj, Johnny Hindkjær, Lotte Hatt, Olav Bjørn Petersen, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Rikke Christensen, Dorte L. Lildballe, Ida Vogel

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Background: The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefo

Externí odkaz: https://doaj.org/article/6d8ecfc0f11141ca99712dbd0659adde

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Akademický článek

Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT

Autor: Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Sara Markholt, Dorte L. Lildballe, Ida Vogel

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

Background: Cell-free NIPT and cell-based NIPT are risk-free testing options using maternal blood samples to screen for fetal aneuploidies, but the methods differ. For cell-free NIPT, the fetal fraction of cell-free DNA in plasma is analyzed with a h

Externí odkaz: https://doaj.org/article/7bdc4b9dc2404e16a69b3606a25e3759

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Akademický článek

Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood

Autor: Lone Sunde, Ripudaman Singh, Katarina Ravn, Palle Schelde, Estrid Stæhr Hansen, Niels Uldbjerg, Isa Niemann, Lotte Hatt

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)

Abstract Background In gestational trophoblastic disease, the prognosis is related to the genetic constitution. In some cases, taking a biopsy is contraindicated. Methods In a pregnant woman, ultrasound scanning suggested hydatidiform mole. To explor

Externí odkaz: https://doaj.org/article/5db69eb2d0074cc995c062662611d0bc

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How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations?:A clinical study from Denmark

Publikováno v: Hatt, L, Ravn, K, Dahl Jeppesen, L, Hestbek Nicolaisen, B, Baasch Christensen, I, Singh, R, Schelde, P, Horsholt Thomsen, S, Christensen, R, Sinding, M, Vase, L, Oestergaard, M, Bender Ruggard, M, Jensen, H S, Mogensen, H, Uldbjerg, N, Becher, N, Markholt, S, Sandager, P, Henning Pedersen, L & Vogel, I 2023, ' How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark ', Prenatal Diagnosis, vol. 43, no. 7, pp. 854-864 . https://doi.org/10.1002/pd.6387
Hatt, L, Ravn, K, Dahl Jeppesen, L, Hestbek Nicolaisen, B, Baasch Christensen, I, Singh, R, Schelde, P, Horsholt Thomsen, S, Christensen, R, Sinding, M, Vase, L, Oestergaard, M, Bender Ruggard, M, Jensen, H S, Mogensen, H, Uldbjerg, N, Becher, N, Markholt, S, Sandager, P, Henning Pedersen, L & Vogel, I 2023, ' How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark ', Prenatal Diagnosis . https://doi.org/10.1002/pd.6387

ObjectivesWe aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT).Material and MethodsStudy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::019b06e0e878e82bce141d7fdef2abbf
https://pure.au.dk/portal/da/publications/how-does-cellbased-noninvasive-prenatal-test-nipt-perform-against-chorionic-villus-sampling-and-cellfree-nipt-in-detecting-trisomies-and-copy-number-variations(78d72510-337f-49de-ab1a-b5099380614c).html

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

Autor: 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

Publikováno v: Jeppesen, L D, Lildballe, D L, Hatt, L, Hedegaard, J, Singh, R, Toft, C L F, Schelde, P, Pedersen, A S, Knudsen, M & Vogel, I 2023, ' Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts : Detection of the 50 most common disease-causing variants ', Prenatal Diagnosis, vol. 43, no. 1, pp. 3-13 . https://doi.org/10.1002/pd.6276

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c69e4474a5ec00a55d1968248f3fff
https://vbn.aau.dk/ws/files/510206222/Jeppesen_et_al_2023_Noninvasive_prenatal_screening_for_cystic_fibrosis_using_circulating_trophoblasts.pdf

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Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing

Publikováno v: Toft, C L F, Ingerslev, H J, Kesmodel, U S, Hatt, L, Singh, R, Ravn, K, Nicolaisen, B H, Christensen, I B, Kølvraa, M, Jeppesen, L D, Schelde, P, Vogel, I, Uldbjerg, N, Farlie, R, Sommer, S, Østergård, M L V, Jensen, A N, Mogensen, H, Kjartansdóttir, K R, Degn, B, Okkels, H, Ernst, A & Pedersen, I S 2021, ' Cell-based non-invasive prenatal testing for monogenic disorders : confirmation of unaffected fetuses following preimplantation genetic testing ', Journal of Assisted Reproduction and Genetics, vol. 38, no. 8, pp. 1959-1970 . https://doi.org/10.1007/s10815-021-02104-5
Journal of Assisted Reproduction and Genetics

Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2edcf80da04180683417130d568d9cb
https://doi.org/10.1007/s10815-021-02104-5

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Akademický článek

Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome.

Autor: Lotte Hatt, Mads M Aagaard, Cathrine Bach, Jesper Graakjaer, Steffen Sommer, Inge E Agerholm, Steen Kølvraa, Anders Bojesen

Publikováno v: PLoS ONE, Vol 11, Iss 8, p e0160319 (2016)

Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve fetal aneuploidy diagnosis, especially for trisomy 13(T13) and trisomy 18(T18). Our aim was to study the methylation landscape

Externí odkaz: https://doaj.org/article/11acaa8328cd4a7793775c2bffe36fa5

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