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1.
Prenat Diagn ; 43(4): 477-488, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36760169

RESUMO

OBJECTIVES: To develop a flexible droplet digital PCR (ddPCR) workflow to perform non-invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches. METHODS: Cell free DNA (cfDNA) was tested from 124 archived maternal plasma samples: 88 cases for sickle cell disease and 36 for rare Mendelian conditions. Three analytical methods were compared: sequential probability ratio testing (SPRT), Bayesian and z-score analyses. RESULTS: The SPRT, Bayesian and z-score analyses performed similarly well with correct prediction rates of 96%, 97% and 98%, respectively. However, there were high rates of inconclusive results for each cohort, particularly for z-score analysis which was 31% overall. Two samples were incorrectly classified by all three analytical methods; a false negative result predicted for a fetus affected with sickle cell disease and a false positive result predicting the presence of an X-linked IDS variant in an unaffected fetus. CONCLUSIONS: ddPCR can be applied to RMD for diverse conditions and inheritance patterns, but all methods carry a small risk of erroneous results. Further evaluation is required both to reduce the rate of inconclusive results and explore discordant results in more detail.


Assuntos
Anemia Falciforme , Diagnóstico Pré-Natal , Gravidez , Feminino , Humanos , Diagnóstico Pré-Natal/métodos , Genótipo , Alelos , Teorema de Bayes , Feto , Reação em Cadeia da Polimerase/métodos , Anemia Falciforme/diagnóstico , Anemia Falciforme/genética
2.
J Emerg Nurs ; 43(1): 7, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-28131352

Assuntos
Hemocultura , Humanos
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