Indication for Referral
The patients with the following clinical situations or presentations indicate the need for referral to medical genetics centre for evaluation by clinical geneticists and genetic counseling. The variety of patients with genetic disorders of any system of the body are seen in the medical genetics department.
- 1. Congenital malformation: Lethal or non-lethal, isolated or multiple, prenatal or postnatal.
- 2. Ultrasonography of a pregnant woman showing malformation or other ultrasonographic abnormalities like oligohydramnios, polyhydramnios, single umbilical artery, increased nuchal thickness, Intrauterine growth restriction, etc.
- 3. Developmental delay or intellectual disability or autism or other developmental disabilities with or without malformations, facial dysmorphism and/or neurological deficit.
- 4. Neurodegenerative diseases presenting as focal neurological deficit, ataxia, spasticity, hypotonia, seizures or psychomotor regression.
- 5. Myopathies and muscular dystrophies
- 6. A neonate or an infant with acute sickness, or failure to thrive or jaundice or has recurrent episodes of vomiting, acidosis and/or convulsions.
- 7. Genetic disorders of blood [anemia, bleeding disorders], bone, skin, eyes, etc.
- 8. Ambiguous genitalia or abnormalities of sexual development like primary amenorrhoea and delayed puberty.
- 9. Infertility and poor obstetric history like recurrent spontaneous abortions, fetal losses and / or neonatal / infantile /early childhood death of offspring.
- 10. Proportionate or disproportionate short stature.
- 11. Childhood deafness.
- 12. Known monogenic disorders like thalassaemia, Wilson disease, haemophilia A, mucopolysaccharidosis, retinitis pigmentosa, epidermolysis bullosa, etc. or family history of genetic disorder or possibly genetic disorder,
- 13. Down Syndrome and other chromosomal disorders.
- 14. Familial cancers or cancer prone disorders
- 15. Relatives of an individual having a structural abnormality of a chromosome or chromosomes.
- 16. Any unusual disease of the skin, eyes, bones or unusual facial features.
- 17. Any disease which is familial.
- 18. Exposure to a known or possible teratogen during pregnancy.
- 19. Consanguineous marriage.
- 20. Advanced maternal age.
- 21. Carrier of a genetic disorder.
- 22. Positive screening test for a genetic disorder like beta thalassemia, Down syndrome.
The spectrum of genetic disorders for which clinical care is provided is vast and includes genetic disorders of all organ systems.
