Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing
| العنوان: | Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing |
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| المؤلفون: | 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 |
| المصدر: | 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 |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Noninvasive Prenatal Testing, DNA Mutational Analysis, Cell, Chorionic villus sampling, Biology, Prenatal testing, STR markers, Andrology, 03 medical and health sciences, Fetus, 0302 clinical medicine, Genetics, medicine, Humans, Preimplantation Diagnosis, Genetics (clinical), Genetic testing, Technological Innovations, Pregnancy, 030219 obstetrics & reproductive medicine, PGT-M, medicine.diagnostic_test, Genetic Carrier Screening, Genetic Diseases, Inborn, Obstetrics and Gynecology, Embryo, General Medicine, Aneuploidy, Embryo Transfer, medicine.disease, Human genetics, Pedigree, Germ Cells, 030104 developmental biology, medicine.anatomical_structure, Reproductive Medicine, cbNIPT, Microsatellite, Female, Microsatellite Repeats, Developmental Biology |
| الوصف: | 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 combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 |
| وصف الملف: | application/pdf |
| تدمد: | 1573-7330 1058-0468 |
| DOI: | 10.1007/s10815-021-02104-5 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2edcf80da04180683417130d568d9cb https://doi.org/10.1007/s10815-021-02104-5 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f2edcf80da04180683417130d568d9cb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15737330 10580468 |
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| DOI: | 10.1007/s10815-021-02104-5 |