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Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study.
Fernández-Martínez, F Javier; Galindo, Alberto; Garcia-Burguillo, Antonio; Vargas-Gallego, Carmela; Nogués, Nuria; Moreno-García, Marta; Moreno-Izquierdo, Ana.
Afiliación
  • Fernández-Martínez FJ; Department of Genetics, Hospital Universitario, Madrid, Spain. ffernandez.hdoc@salud.madrid.org
Genet Med ; 14(1): 101-6, 2012 Jan.
Article en En | MEDLINE | ID: mdl-22237438
PURPOSE: To prospectively validate a protocol for noninvasive fetal sex determination in maternal plasma and demonstrate its applicability to clinical practice. METHODS: Peripheral blood from 404 pregnant women undergoing prenatal invasive testing was collected from 6 to 23 weeks of gestation. Real-time PCR was performed for the SRY gene and multicopy DYS14 marker sequence located within the TSPY gene by the TaqMan minor groove binder probe assay as a first-line test. Owing to a false-positive result, amplification of repetitive motifs of the DAZ gene region was also tested as a second-line test performed in the last 232 patients enrolled in our series. A diagnostic algorithm was designed using a combination of these three markers. Fetal gender determined by noninvasive prenatal diagnosis (NIPD) was compared with that diagnosed by quantitative fluorescent PCR after invasive testing or ultrasound. RESULTS: A single false-positive result was obtained in the first 172 pregnancies. Reporting criteria were modified in the subsequent 232 pregnancies, giving an overall sensitivity and specificity of 100% (95% CI 99.8-100%) and 99.5% (95% CI 98.1-100%), respectively. Pregnancy outcome was obtained in all cases, including 221 male-bearing and 183 female-bearing pregnancies. CONCLUSION: NIPD for fetal sex determination in maternal plasma is highly accurate and clinically applicable if robust reporting criteria are applied.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Análisis para Determinación del Sexo / Pruebas Genéticas Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2012 Tipo del documento: Article País de afiliación: España

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Análisis para Determinación del Sexo / Pruebas Genéticas Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2012 Tipo del documento: Article País de afiliación: España