Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.

Westenius, E; Sahlin, E; Conner, P; Lindstrand, A; Iwarsson, E

Westenius, E; Sahlin, E; Conner, P; Lindstrand, A; Iwarsson, E.

Afiliación

Westenius E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Sahlin E; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Conner P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Iwarsson E; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Ultrasound Obstet Gynecol ; 60(4): 487-493, 2022 10.

Article en En | MEDLINE | ID: mdl-35397126

Asunto(s)

Hidropesía Fetal; Trisomía; Aberraciones Cromosómicas; Femenino; Factores de Transcripción Forkhead/genética; Humanos; Hidropesía Fetal/diagnóstico; Hidropesía Fetal/genética; Embarazo; Estudios Retrospectivos; Secuenciación Completa del Genoma; Proteína Activadora de GTPasa p120/genética

Palabras clave

Costello syndrome; HRAS; fetus; hydrops fetalis; prenatal diagnosis; whole-genome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trisomía / Hidropesía Fetal Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Ultrasound Obstet Gynecol Asunto de la revista: DIAGNOSTICO POR IMAGEM / GINECOLOGIA / OBSTETRICIA Año: 2022 Tipo del documento: Article País de afiliación: Suecia

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