Chromosomal abnormalities: trisomy 18, trisomy 13, deletions, and microdeletions.
The birth of an infant with a chromosomal abnormality such as trisomy 18, 13, Wolf-Hirschhorn (4p-) syndrome, Cri-du-chat (5p-) syndrome, and the microdeletion syndromes creates a stressful and devastating experience for families. Many of these disorders have severe consequences encompassing major malformations and mental retardation. With increasing diagnostic accuracy, clinicians can now appreciate the wide variability and natural history of these disorders. Although many of these infants do not survive the neonatal period, others do. Neonatal nurses have the opportunity to assist families in these situations by providing anticipatory guidance and care.
Matthews
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Department of Genetics, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.
D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics* / Q000451:nursing*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005190:Family / Q000523:psychology; D017353:Gene Deletion; D005817:Genetic Counseling / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D007255:Information Services; D020407:Internet; D017283:Neonatal Nursing / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*