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Neonatal Screening

Screening

New-borns deserve the special protection afforded by screening for disorders where early diagnosis and treatment favourably affect outcome.

Following guidelines are recommended by W.H.O for neonatal screening:

  1. Only those disorders should be included in the screening list for which evidence exists that early diagnosis and medical treatment make a difference for the new-borns with the disorder.
  • Some treatments (e.g., for PKU) must be instituted immediately after birth in order to be effective
  • Screening for fragile X syndrome is not warranted because there is no evidence of medical benefit to the newborn
  1. New-born screening should be conducted within the optimum time frame for early detection and treatment.
  • If the maximum sensitivity of a test occurs at some point after birth and possibly after discharge from the hospital, it is imperative to follow up and test the newborn at this time.
  1. The health care system should outreach to
  • all newborns,
  • free of charge,
  • at the time when screening is most likely to detect a genetic disorder and
  • before the genetic/hereditary disorder can cause permanent damage to the newborn

  1. Test results of screening, should become part of the child's medical record

  2. Newborn screening may reveal carrier status in the family.

  • When this occurs, the parents or family members should be informed
  • This should be followed by full genetic counselling
  • The parents may choose whether to be tested to identify carriers

The primary purpose of newborn screening is to benefit the newborn through early treatment

  • Nations instituting newborn screening programmes are ethically obligated to provide available, affordable, and timely treatment for each disorder in a screening programme.
  • If a nation is unable to provide affordable and timely treatment to all for a disorder, that disorder should not be included in mandatory new-born screening
  • Hence the screening list will vary according to country

Following genetic or otherwise congenital diseases are often included in various neonatal screening lists:

  1. Sex chromosome abnormalities
  2. CDH
  3. PKU- heel prick blood sample, collected 5 – 10 days after birth, on a filter paper (Guthrie card) is sent to screening laboratory
  4. Congenital hypothyroidism
  5. Sickle cell disease – haemoglobin electrophoresis using Guthrie blood spots
  6. Cystic fibrosis – based on measurement of immune-reactive trypsin in Guthrie blood spots
  7. Duchenne muscular dystrophy
  8. Congenital adrenal hyperplasia
  9. G6PD deficiency etc.

References:

  • Park’s Textbook of Preventive and Social Medicine, 23rd ed.
  • WORLD HEALTH ORGANIZATION, 2003. Review of Ethical Issues in Medical Genetics: Human Genetics Programme, Management of Non-communicable Diseases; Geneva: WHO/HGN/ETH/00.4

Eugenics: Eugenics
Negative Eugenics and Positive Eugenics: Eugenics
Euphenics: Euphenics
Euthenics: Euthenics
Genetic Counselling: Genetic Counselling
Neonatal Screening: Neonatal Screening
Prenatal Diagnosis: Prenatal Diagnosis
Gene therapy: Gene therapy
Erythroblastosis Foetalis: Erythroblastosis Foetalis
Role of Genetic Predisposition in Common Disorders: Role of Genetic Predisposition in Common Disorders

Difference between ‘Eugenics’ and ‘Genetic Counselling’: Difference between ‘Eugenics’ and ‘Genetic Counselling’

FAQs in Genetics and Health (lecture): Genetics and Health