Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal
| Autor: | Brian A. Kilburn, Marie van Dijk, Vicki Mazzorana, Craig Hartman, Allerdien Visser, Rani Fritz, Alan D. Bolnick, Leena Kadam, D. Randall Armant, Sascha Drewlo, Chandni Jain, Michael Hertz, Hamid Reza Kohan-Ghadr |
|---|---|
| Přispěvatelé: | Laboratory Medicine, ICaR - Ischemia and repair |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Genotype Placenta DNA Mutational Analysis Gestational Age Biology Polymorphism Single Nucleotide Article DNA sequencing 03 medical and health sciences Fetus 0302 clinical medicine Pregnancy Prenatal Diagnosis medicine Humans 030219 obstetrics & reproductive medicine High-Throughput Nucleotide Sequencing Trophoblast Gestational age Prenatal Care General Medicine medicine.disease Trophoblasts Pregnancy Trimester First 030104 developmental biology medicine.anatomical_structure Haplotypes In utero Mutation embryonic structures Gestation Microsatellite Female Cell-Free Nucleic Acids Microsatellite Repeats |
| Zdroj: | Science Translational Medicine, 8(363):363re4. American Association for the Advancement of Science Sci Transl Med Jain, C V, Kadam, L, Van Dijk, M, Kohan-Ghadr, H R, Kilburn, B A, Hartman, C, Mazzorana, V, Visser, A, Hertz, M, Bolnick, A D, Fritz, R, Armant, D R & Drewlo, S 2016, ' Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal ', Science Translational Medicine, vol. 8, no. 363, 363re4 . https://doi.org/10.1126/scitranslmed.aah4661 |
| ISSN: | 1946-6242 1946-6234 |
| DOI: | 10.1126/scitranslmed.aah4661 |
| Popis: | Single-gene mutations account for more than 6000 diseases, 10% of all pediatric hospital admissions, and 20% of infant deaths. Down syndrome and other aneuploidies occur in more than 0.2% of births worldwide and are on the rise because of advanced reproductive age. Birth defects of genetic origin can be diagnosed in utero after invasive extraction of fetal tissues. Noninvasive testing with circulating cell-free fetal DNA is limited by a low fetal DNA fraction. Both modalities are unavailable until the end of the first trimester. We have isolated intact trophoblast cells from Papanicolaou smears collected noninvasively at 5 to 19 weeks of gestation for next-generation sequencing of fetal DNA. Consecutive matched maternal, placental, and fetal samples (n = 20) were profiled by multiplex targeted DNA sequencing of 59 short tandem repeat and 94 single-nucleotide variant sites across all 24 chromosomes. The data revealed fetal DNA fractions of 85 to 99.9%, with 100% correct fetal haplotyping. This noninvasive platform has the potential to provide comprehensive fetal genomic profiling as early as 5 weeks of gestation. |
| Databáze: | OpenAIRE |
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