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

Autor: Lotte Hatt, Bolette Hestbek Nicolaisen, Helle Mogensen, Steffen Sommer, Palle Schelde, Ida Vogel, Inge Søkilde Pedersen, Mathias Kølvraa, Henrik Okkels, Christian Liebst Frisk Toft, Ulrik Schiøler Kesmodel, Richard Farlie, Line Dahl Jeppesen, Anja Ernst, Inga Baasch Christensen, Birte Degn, Katarina Ravn, Hans Jakob Ingerslev, Kristín Rós Kjartansdóttir, Marianne Louise Vang Østergård, Niels Uldbjerg, Ripudaman Singh, Ann Nygaard Jensen

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

Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis

Autor: Niels Uldbjerg, Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Katarina Ravn, Dorte L Lildballe, Ida Vogel, Mathias Kølvraa, Palle Schelde

Publikováno v: Jeppesen, L D, Hatt, L, Singh, R, Ravn, K, Kølvraa, M, Schelde, P, Uldbjerg, N, Vogel, I & Lildballe, D L 2021, ' Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis ', Prenatal Diagnosis, vol. 41, no. 2, pp. 234-240 . https://doi.org/10.1002/pd.5861

OBJECTIVE: We aimed to develop cell-based NIPT for cystic fibrosis (CF) and test a pregnancy at risk of two common pathogenic variants.METHOD: A pregnant woman carrying monozygotic twins opted for prenatal testing as she and her partner were heterozy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb8116db7e8c65dfa211a3729504c952
https://pubmed.ncbi.nlm.nih.gov/33150588

Do fetal extravillous trophoblasts circulate in maternal blood postpartum?

Autor: Niels Uldbjerg, Anne Van De Looij, Ripudaman Singh, Line Dahl Jeppesen, Lotte Hatt, Palle Schelde, Katarina Ravn, Bolette Hestbek Nicolaisen, Ida Vogel, Mathias Kølvraa

Publikováno v: Acta Obstetricia et Gynecologica Scandinavica
Van De Looij, A, Singh, R, Hatt, L, Ravn, K, Jeppesen, L D, Nicolaisen, B H, Kølvraa, M, Vogel, I, Schelde, P & Uldbjerg, N 2020, ' Do fetal extravillous trophoblasts circulate in maternal blood postpartum? ', Acta Obstetricia et Gynecologica Scandinavica, vol. 99, no. 6, pp. 751-756 . https://doi.org/10.1111/aogs.13880

Introduction Circulating fetal extravillous trophoblasts may offer a superior alternative to cell-free fetal DNA for noninvasive prenatal testing. Cells of fetal origin are a pure source of fetal genome; hence, unlike the cell-free noninvasive prenat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04150193c535939943426a30c7562040
https://pubmed.ncbi.nlm.nih.gov/32323316