Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions.

Hoskovec, Jennifer; Hardisty, Emily E; Talati, Asha N; Carozza, Jacqueline A; Wynn, Julia; Riku, Shan; Ten Bosch, John R; Vora, Neeta L

Hoskovec, Jennifer; Hardisty, Emily E; Talati, Asha N; Carozza, Jacqueline A; Wynn, Julia; Riku, Shan; Ten Bosch, John R; Vora, Neeta L.

Afiliação

Hoskovec J; BillionToOne, Inc, Menlo Park, CA. Electronic address: jhoskovec@billiontoone.com.
Hardisty EE; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, NC.
Talati AN; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, NC.
Carozza JA; BillionToOne, Inc, Menlo Park, CA.
Wynn J; BillionToOne, Inc, Menlo Park, CA.
Riku S; BillionToOne, Inc, Menlo Park, CA.
Ten Bosch JR; BillionToOne, Inc, Menlo Park, CA.
Vora NL; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, NC.

Genet Med ; 25(2): 100334, 2023 02.

Article em En | MEDLINE | ID: mdl-36454238

Assuntos

Teste Pré-Natal não Invasivo; Cuidado Pré-Natal; Feminino; Recém-Nascido; Gravidez; Humanos; Feto; Heterozigoto; Medição de Risco; Diagnóstico Pré-Natal/métodos

Palavras-chave

Carrier screening; Personalized fetal disease risk; Single-gene NIPS; Single-gene recessive disorders; sgNIPS

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cuidado Pré-Natal / Teste Pré-Natal não Invasivo Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article

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