Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases.
Genet Med
; 19(12): 1332-1337, 2017 12.
Article
en En
| MEDLINE
| ID: mdl-28617416
ABSTRACT
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap.MethodsHere, we review the results from the first 10,000 cases submitted to the Sequenom clinical laboratory for genome-wide cfDNA screening.ResultsThe high-risk indication for this cohort differed compared with standard cfDNA screening. More samples were submitted with ultrasound indications (25% compared with 13% for standard cfDNA screening) and fewer for advanced maternal age (51% for genome-wide screening versus 68% for standard cfDNA screening). A total of 554 positive calls were made, of which 164 were detectable only via genome-wide analysis.ConclusionThis reports indicates a difference in utilization compared with standard cfDNA screening, where positivity rates are higher and a large subset of positive calls could not have been made using standard cfDNA screening.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
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Estudio de Asociación del Genoma Completo
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Ácidos Nucleicos Libres de Células
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Enfermedades Genéticas Congénitas
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
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Risk_factors_studies
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Screening_studies
Límite:
Female
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Humans
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Pregnancy
Idioma:
En
Revista:
Genet Med
Asunto de la revista:
GENETICA MEDICA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Estados Unidos