Management of Combined Chromosomal Abnormalities

Diagnostic Evaluation and Immediate Management

Genetic counseling should be provided immediately to explain etiology, natural history, and recurrence risk, according to the American College of Medical Genetics and Genomics 1
Immediate cardiology consultation is necessary for any detected structural heart disease, as recommended by the American Heart Association 1
Nasogastric or gastrostomy tube placement may be necessary for adequate nutrition, as suggested by the American Academy of Pediatrics 1
Assess feeding ability and swallowing function early, as recommended by the American Academy of Pediatrics 1

Designate a primary care coordinator (genetics specialist or pediatrician experienced with complex chromosomal disorders), as recommended by the American College of Medical Genetics and Genomics 3
Regular multidisciplinary clinic visits involving genetics, cardiology, neurology, developmental pediatrics, and other specialists as needed, are essential for comprehensive care, according to the American Academy of Pediatrics 1
Early intervention services should begin immediately, as recommended by the American Academy of Pediatrics 4
Periodic developmental assessments to guide educational planning, are necessary for optimal outcomes, according to the American Academy of Pediatrics 1

Only 5-10% survival beyond the first year is typical for severe chromosomal abnormalities with multiple organ involvement, as reported by the American College of Medical Genetics and Genomics 2
Discuss goals of care and palliative care options given poor prognosis, as recommended by the American Academy of Hospice and Palliative Medicine 2