Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample - 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; et al. (The New England journal of medicine, 2012)
Keywords: 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