​Indications for Genetic Counseling and/or Education In Pediatric Practice

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Indications

1. Children with 2 or more major malformations or a major and several minor malformations.
2. Children with common birth defects (neural tube defects, congenital heart disease, cleft lip/palate, clubfoot, dislocated hips, multiple vertebral anomalies, atresias or stenosis of GI tract).
3. Families who have had a fatally malformed infant (stillborn or neonatal death).
4. Mental retardation especially when:
   • the child has evidence of a metabolic disturbance - acidosis,
   • chronic/recurrent vomiting, pigmentary abnormalities, etc.
   • the child has malformations
   • multiple sibs are affected or a parent and child are similarly affected
   • multiple males in a family are affected
5. Newborns with lethargy/coma, anorexia/vomiting or acidosis/ketosis without a clear explanation.
6. Children with loss of milestones or/and organomegaly beginning at several months to several years of age who were previously apparently thriving.
7. Cases of abnormal sexual development, primary amenorrhea or aspermia.
8. Cases of early complete or partial hearing loss or blindness, neurodegenerative disorders, short stature, premature heart disease, immune deficiency, abnormalities of the skin, hair or bones and sickle cell anemia/thalessemia, other blood disorder or coagulopathy.
9. Cases of any known hereditary disorder.
10. Families where any disorder "runs in the family."
11. Mothers desiring more children who:
    • are on chronic medications (autioconvulsants, antimetabolites, thyroid antagonists, steroids, etc.)
    • are "on drugs" (including alcohol)
    • have had recurrent pregnancy losses
    • are over 35 or have husbands over 55
    • have a previous retarded or malformed child
    • have questions about prenatal diagnosis for any disorder
      

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