Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders | Zendy

Ignatia B. Van den Veyver | Zendy; Christine M. Eng | Zendy

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Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders

Author(s) -

Ignatia B. Van den Veyver,

Christine M. Eng

Publication year - 2015

Publication title -

cold spring harbor perspectives in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.853

H-Index - 105

eISSN - 2472-5412

pISSN - 2157-1422

DOI - 10.1101/cshperspect.a023077

Subject(s) - exome sequencing , prenatal diagnosis , exome , dna sequencing , genetic counseling , whole genome sequencing , genome , genetics , gene , computational biology , genetic testing , biology , disease , bioinformatics , medicine , fetus , pregnancy , mutation , pathology

New sequencing methods capable of rapidly analyzing the genome at increasing resolution have transformed diagnosis of single-gene or oligogenic genetic disorders in pediatric and adult medicine. Targeted tests, consisting of disease-focused multigene panels and diagnostic exome sequencing to interrogate the sequence of the coding regions of nearly all genes, are now clinically offered when there is suspicion for an undiagnosed genetic disorder or cancer in children and adults. Implementation of diagnostic exome and genome sequencing tests on invasively and noninvasively obtained fetal DNA samples for prenatal genetic diagnosis is also being explored. We predict that they will become more widely integrated into prenatal care in the near future. Providers must prepare for the practical, ethical, and societal dilemmas that accompany the capacity to generate and analyze large amounts of genetic information about the fetus during pregnancy.

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