Development of a comprehensive noninvasive prenatal test
Author:
Affiliation:
1. Universidade de São Paulo, Brazil
2. Cornell University, USA
3. Leiden University Medical Center, The Netherlands
4. Faculdade de Medicina de Jundiaí, Brazil
Publisher
FapUNIFESP (SciELO)
Subject
Genetics,Molecular Biology
Link
http://www.scielo.br/pdf/gmb/v41n3/1415-4757-GMB-1678-4685-GMB-2017-0177.pdf
Reference51 articles.
1. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: Effect of maternal and fetal factors;Ashoor G;Fetal Diagn Ther,2012
2. Noninvasive prenatal testing and incidental detection of occult maternal malignancies;Bianchi DW;JAMA,2015
3. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe L;Am J Med Genet Part A,2015
4. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: Next-generation sequencing allows for a safer, more accurate, and comprehensive approach;Chitty LS;Prenat Diagn,2015
5. Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21;Chiu RWK;Clin Chem,2010
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2. Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia;BMC Medical Genomics;2021-11
3. Current Overview of Osteogenesis Imperfecta;Medicina;2021-05-10
4. Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β ‐thalassemia by a novel method of noninvasive prenatal testing;Prenatal Diagnosis;2021-01-21
5. Reproductive options for families at risk of Osteogenesis Imperfecta: a review;Orphanet Journal of Rare Diseases;2020-05-27
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