title: Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Baylor College of Medicine, The Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: Ignatia B
authors.initials: IB
authors.lastname: van den Veyver
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: Christine M
authors.initials: CM
authors.lastname: Eng
mesh_terms: D000653:Amniotic Fluid / Q000737:chemistry; D015193:Chorionic Villi Sampling / Q000191:economics / Q000379:methods; D003219:Confidentiality; D059472:Exome / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000191:economics / Q000235:genetics; D005817:Genetic Counseling / Q000191:economics / Q000941:ethics; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D014644:Genetic Variation / Q000235:genetics; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000191:economics / Q000379:methods*; D006801:Humans; D033162:Incidental Findings; D007258:Informed Consent; D009154:Mutation / Q000235:genetics; D017060:Patient Satisfaction; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000191:economics / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000191:economics / Q000379:methods