Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

• Published in: The New England journal of medicine Vol. 367; no. 23; pp. 2226 - 2232
• Main Authors: Talkowski, Michael E, Ordulu, Zehra, Pillalamarri, Vamsee, Benson, Carol B, Blumenthal, Ian, Connolly, Susan, Hanscom, Carrie, Hussain, Naveed, Pereira, Shahrin, Picker, Jonathan, Rosenfeld, Jill A, Shaffer, Lisa G, Wilkins-Haug, Louise E, Gusella, James F, Morton, Cynthia C
• Format: Journal Article
• Language: English
• Published: Waltham, MA Massachusetts Medical Society 06.12.2012
• Series: Brief Report
• Subjects: Adult; Amniocentesis; Biological and medical sciences; Cesarean section; CHARGE syndrome; CHARGE Syndrome - diagnosis; CHARGE Syndrome - genetics; Chromosome Aberrations; Chromosome Disorders - diagnosis; Congenital diseases; Deoxyribonucleic acid; Diagnosis; DNA; DNA sequencing; Female; Fetal Diseases - diagnosis; Fetuses; General aspects; Genetic counseling; Genetic Testing - methods; Genome, Human; Genomes; Genomic Library; Heart Defects, Congenital - diagnostic imaging; Heart Defects, Congenital - genetics; Humans; Karyotype; Medical diagnosis; Medical sciences; Metabolism; Mutation; Oligonucleotide Array Sequence Analysis; Pregnancy; Prenatal care; Prenatal Diagnosis - methods; Translocation, Genetic; Ultrasonic imaging; Ultrasonography, Prenatal; Ultrasound; Whole genome sequencing; United States > US; Medicine; Prenatal; Diagnosis; Nucleotide sequence; Genome; Sequencing

Translocation of chromosomes can result in disruption of genes. In this case report, a sequencing approach was used to identify the cause and effect of a translocation within 13 days, a period consistent with use of the approach in prenatal diagnosis. Deep sequencing of the whole genome holds diagno...