title: Peripartum Anesthetic Management and Genomic Analysis of Rare Variants in a Patient with Familial Pulmonary Fibrosis.
abstract: A 29-year-old patient, 32 weeks' pregnant, with a history of familial interstitial fibrosis, was treated for acute hypoxemia after admission to the intensive care unit. Within 48 hours, this was followed by an emergent cesarean delivery, under general anesthesia, due to acute respiratory failure. Successful perinatal obstetric and anesthetic management resulted in the delivery of a baby and recovery of the mother. Subsequent genomic analysis using next-generation sequencing of the patient's entire exome revealed that she was a carrier of a deleterious mutation in the TERT gene, previously associated with the hereditary forms of interstitial fibrosis.
authors.affiliation: From the Department of Anesthesiology, Penn State Hershey Medical Center, Hershey, Pennsylvania.
authors.forename: Shigekazu
authors.initials: S
authors.lastname: Sugino
authors.forename: Brandon J
authors.initials: BJ
authors.lastname: Bortz
authors.forename: Sonia
authors.initials: S
authors.lastname: Vaida
authors.forename: Kunal
authors.initials: K
authors.lastname: Karamchandani
authors.forename: Piotr K
authors.initials: PK
authors.lastname: Janicki
mesh_terms: D000328:Adult; D000768:Anesthesia, General / Q000379:methods*; D000773:Anesthesia, Obstetrical / Q000379:methods*; D002585:Cesarean Section / Q000379:methods; D036861:Delivery, Obstetric; D005260:Female; D023281:Genomics; D006801:Humans; D009154:Mutation; D010375:Pedigree; D058725:Peripartum Period; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics*; D011256:Pregnancy Outcome; D047928:Premature Birth; D011658:Pulmonary Fibrosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D017422:Sequence Analysis, DNA; D019098:Telomerase / Q000235:genetics*
chemical_list: C509186:TERT protein, human; D019098:Telomerase