Clinical diagnosis by whole-genome sequencing of a prenatal sample.

Talkowski, Michael E

Clinical diagnosis by whole-genome sequencing of a prenatal sample. [electronic resource] - The New England journal of medicine Dec 2012 - 2226-32 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1533-4406

10.1056/NEJMoa1208594 doi


Adult
CHARGE Syndrome--diagnosis
Chromosome Aberrations
Chromosome Disorders--diagnosis
Female
Fetal Diseases--diagnosis
Genetic Testing--methods
Genome, Human
Genomic Library
Heart Defects, Congenital--diagnostic imaging
Humans
Karyotype
Mutation
Oligonucleotide Array Sequence Analysis
Pregnancy
Prenatal Diagnosis--methods
Translocation, Genetic
Ultrasonography, Prenatal