TY - JOUR
T1 - Peripartum Anesthetic Management and Genomic Analysis of Rare Variants in a Patient with Familial Pulmonary Fibrosis
AU - Sugino, Shigekazu
AU - Bortz, Brandon J.
AU - Vaida, Sonia
AU - Karamchandani, Kunal
AU - Janicki, Piotr K.
PY - 2015/11/15
Y1 - 2015/11/15
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84976561371&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84976561371&partnerID=8YFLogxK
U2 - 10.1213/XAA.0000000000000198
DO - 10.1213/XAA.0000000000000198
M3 - Article
C2 - 26576048
AN - SCOPUS:84976561371
SN - 2325-7237
VL - 5
SP - 169
EP - 172
JO - A & A case reports
JF - A & A case reports
IS - 10
ER -