Clinical experience of unexpected findings in prenatal array testing.

Joosten, Marieke; Diderich, Karin Em; Van Opstal, Diane; Govaerts, Lutgarde Cp; Riedijk, Sam R; Prinsen, A Krista E; De Vries, Femke At; Go, Attie Tji; Galjaard, Robert-Jan H; Srebniak, Malgorzata I

Joosten, Marieke; Diderich, Karin Em; Van Opstal, Diane; Govaerts, Lutgarde Cp; Riedijk, Sam R; Prinsen, A Krista E; De Vries, Femke At; Go, Attie Tji; Galjaard, Robert-Jan H; Srebniak, Malgorzata I.

Afiliación

Joosten M; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Diderich KE; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Govaerts LC; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Riedijk SR; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Prinsen AK; Department of Obstetrics & Gynecology, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
De Vries FA; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Go AT; Department of Obstetrics & Gynecology, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Galjaard RJ; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.

Biomark Med ; 10(8): 831-40, 2016 Aug.

Article en En | MEDLINE | ID: mdl-27414702

RESUMEN

AIM: The aim of this study was to evaluate whether unexpected diagnoses (UD) made by prenatal array testing contribute to pregnancy management. PATIENTS & METHODS: In 2010-2015 in 19/4043 (0.5%) pregnancies an UD was made. The clinical usefulness of UDs was assessed based on the couple's responses during post-test counseling and their decisions. RESULTS: In 16/19 cases, the UD was helpful either for the couples in making a decision about the course of their pregnancy, for perinatal management or family genetic counseling. CONCLUSION: The majority of the pregnant couples found the UDs relevant for pregnancy management and genetic counseling. This adds another motive for offering whole genome array during pregnancy in patients who wish broad testing of their fetus.

Asunto(s)

Asesoramiento Genético; Variaciones en el Número de Copia de ADN; Síndrome de Down/diagnóstico; Síndrome de Down/genética; Femenino; Genoma Humano; Edad Gestacional; Cardiopatías Congénitas/diagnóstico; Cardiopatías Congénitas/genética; Humanos; Análisis de Secuencia por Matrices de Oligonucleótidos; Polimorfismo de Nucleótido Simple; Embarazo; Diagnóstico Prenatal; Ultrasonografía

Palabras clave

array; incidental findings; post-test counseling; prenatal diagnosis; pretest counseling; unexpected diagnosis

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Asesoramiento Genético Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Biomark Med Asunto de la revista: BIOQUIMICA / MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido

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