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| Malcher,Carolina; Yamamoto,Guilherme L.; Burnham,Philip; Ezquina,Suzana A.M.; Lourenço,Naila C.V.; Balkassmi,Sahilla; Antonio,David S. Marco; Hsia,Gabriella S.P.; Gollop,Thomaz; Pavanello,Rita C.; Lopes,Marco Antonio; Bakker,Egbert; Zatz,Mayana; Bertola,Débora; Vlaminck,Iwijn De; Passos-Bueno,Maria Rita. |
| Abstract Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40 mock samples, and eight mother-child pairs to generate 35 simulated datasets. Fetal fraction (FF) was estimated based on analysis of the single nucleotide polymorphism (SNP) allele fraction distribution. A Z-score was calculated for trisomy of chromosome 21 (T21), and fetal sex detection. Monogenic disease detection was performed through variant analysis. Model validation was performed using the simulated datasets. The novel model to estimate FF was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cell-free DNA; Next-generation sequencing; Trisomy; Noninvasive prenatal test; Fetal fraction. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400545 |
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