Question

Newborns are tested at birth for newborn disorders. The disorders included in newborn screening vary from state to state. Most states test for all of the conditions specified by the Health Resources and include phenylketonuria (PKU), cystic fibrosis, sickle cell disease, critical congenital heart disease, hearing loss, and others. Some states test for additional disorders that are not part of the HRSA panel. Most of the conditions included in newborn screening can cause serious health problems if treatment is not started shortly after birth. Prompt identification and management of these conditions may be able to prevent life-threatening complications. Please discuss this testing, how the testing is done and what it can mean for the infant?

Answer 1

New Born Screening mainly focuses on 4 problems

1) Metabolic Problems,

2) Hormonal Problems.

3) Hemoglobin Problems.

4) Other Problems

1) Metabolic Problems:

To detect how well the enzymes which play key role in metabolism function.

In these the babies are screened for the following conditions

a) Phenylketonuria

b) Tyrosinemia

c) Methylmalonic Acidemia

d) Maple syrup urine disease (MSUD)

e) Citrullinemia

f) MediumChained Acyl coA Dehydrogenase (MCAD) Deficiency

2) Hormonal Problems

In these the babies are screened for too much or not enough hormones. Following are the conditions the babies are screened for

a) Congenital Hypothroidism

b) Congenital Adrenal Hyperplasia.

3) Hemoglobins problems

Hemoglobins are the oxygen carriers in RBC. In this segemnt the babies are screened for

a) Sickle cell Disease

b) Hemoglobin SC Disease

c) Beta Thalassemia

4) Other Problems inculde

a) Galactocemia

b) Biotidenase Deficiency

c) Cystic Fibrosis

d) Severe Combined Immunodeficiency (SCID)

f) Pompe Dsease

g) Mucopolysaccharidosis Type 1

h) X linked Adrenoluekodystrophy

i) Spinal Muscle Atrophy (SMA)

j) Hearing loss

k) Critical Congenital Heart Disease.

How the test is done?

A small blood sample taken from the heal of newborn is taken within 1-2 days after birth for testing. Some experts recommend a repeat sample not more than 1-2 weeks later. Results are usually ready within a week. If diagnosis confirmed, the newborn might refer to a specialist for further evaluation and treatment.

Why is it neccessary for newborn?

It helps in identifying the fatal and diabling condition as early as possible so that we can start the neccesary treatment.