Principles of genetics and their clinical application in the neonatal intensive care unit.
The neonate born with a genetic defect or fetal anomaly presents a challenge to the neonatal intensive care unit team. Typically genetic disorders are thought of as being rare; however, this is not true, and it is becoming increasingly evident as knowledge and technology progress. A definitive diagnosis is essential for management and care of the neonate and the neonate's family. An evidence-based approach to the neonate who has a suspected genetic anomaly is essential to provide accurate diagnosis and to guide ongoing care. This article gives an overview of basic genetics and genetic counseling, and applies the principles to two case studies.
Schiefelbein
Julieanne H
JH
Neonatal Nurse Practitioner Service, Intermountain Health Care, 100 North Mario Capecchi Drive, Salt Lake City, UT 84119, USA. julieanne.schiefelbein@imail.org
Cheeseman
Susan E
SE
D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D055317:Evidence-Based Practice; D005260:Female; D005817:Genetic Counseling / Q000458:organization & administration; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D005820:Genetic Testing / Q000458:organization & administration; D005826:Genetics, Medical / Q000458:organization & administration*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007255:Information Services; D015931:Intensive Care, Neonatal / Q000458:organization & administration*; D020407:Internet; D008423:Maternal Age; D017283:Neonatal Nursing / Q000458:organization & administration*; D015997:Neonatal Screening / Q000458:organization & administration; D024802:Nurse's Role; D009730:Nursing Assessment / Q000458:organization & administration; D011296:Prenatal Diagnosis / Q000379:methods; D012307:Risk Factors