1. Prof. Dr J P Soni
Dr S N Medical college; JODHPUR
INDIA50th2
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NEW BORN
SCREENING
Newborn Screening

2. Every couple & family wants after
birth
Baby should remain Healthy

3. Four millions are born with congenital problems
140 MILLION CHILDERN ARE BORN
EVERY YEAR
25-30% are expected to have Inborn Error of Metabolism
1: 1350
5-15% of all sick newborn In NICU expected to have
Transient or permanent IEM

4. Inborn errors of
metabolism
Definition:
Inborn errors of
metabolism is a rare group of
recessive genetic disorders in
which the body cannot
metabolize food components
normally. These disorders are
usually caused by defects in the
enzymes involved in the
biochemical pathways that break
down food components.

5. Prior to delivery, “A Fetus” is
usually "protected" from any
ill-effects of a
metabolic disease
either by the
Maternal circulation which
provide missing product
or
Placenta which remove toxic
substances.

6. Inborn Errors of Small molecule Metabolism
Example: Galactosemia
I E M - Large molecule : Lysosomal storage
diseases
Example: Gaucher's Disease
Disorders of Energy Metabolism
Example Glycogen Storage Disease
Other more rare classes of metabolism error
Peroxisomal disorders
Transport disorders
Defects in purine and pyrimidine
metabolism & Receptor Defects
IEM Classification:

7. Population : 1220 million
Birth rate 20.6/1000
Every day 30,000 babies are born
Incidence of neonatal disorder is approximately 1:1000
Thus every day 30 newborns are born with
Different Neonatal disorders

8. Population ; 1220 million
Birth rate 20.6/1000
Congenital Hypothyroidism (1965) - 1: 1700
Every year 15000 neonates are born with it
Every day 30.000 babies are born
Every day 1 new born / 1000 is born with neonatal disorder
Every day 30 newborns are born with neonatal disorders

9. Population ; 1220 million
Birth rate 20.6/1000
G-6PD(Glucose 6 phosphate deficiency ) : 1: 2200,
3.5 lacs; Male 28.3%; Female : 1.05%
INDIA

10. Population ; 1220 million
Birth rate 20.6/1000
Congenital Adrenal Hyperplasia(1990) : 1: 2575
INDIA

11. Population ; 1220 million
Birth rate 20.6/1000
Cystic Fibrosis(1995) :1:10000 – 1: 40000
INDIA

12. Population ; 1220 million
Birth rate 20.6/1000
PKU (Phenylketonuria) : 1: 18300
INDIA

13. Population ; 1220 million
Birth rate 20.6/1000
Biotinidase deficiency(1990) :
INDIA

14. Population ; 1220 million
Birth rate 20.6/1000
Galactosemia: 1: 10300
INDIA

15. Population ; 1220 million
Birth rate 20.6/1000
Mapple syp urine disease : 1: 10215
INDIA

16. Population ; 1220 million
Birth rate 20.6/1000
Tyrosinemia : 1: 6234
INDIA

17. Population ; 1220 million
Birth rate 20.6/1000
down syndrome: 20,000
INDIA

18. Population ; 1220 million
Birth rate 20.6/1000
Thalassemia : 14,000
INDIA

19. Population ; 1220 million
Birth rate 20.6/1000
Sickle cell anemia: 5,000
INDIA

20. Individually these diseases are very rare, but when all are
clubbed together they are not very uncommon.
Incidence is approximately 1: 1000 newborn
Even then our country do not have national wide any
new born preventive program
INDIA50th2
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1
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NEW BORN
SCREENING

21. Q. What types of
screening do we have
for such patients ?

22. 1. Prenatal Diagnostic screening – is type of
primary prevention for At risk fetus.
2. New born screening – is type of secondary
Prevention for Pre-symptomatic newborns
3. High risk screening – symptomatic new borns
4. Postmortem screening – Metabolic Autopsy

23. is type of secondary
Prevention for Pre-symptomatic newborns

24. Q.When newborn screening program
was started?

25. Ans:
Newborn screening program was started in the
United States in the early 1960s, and since than
it has been expanded to countries around the
world.
On April 24, 2008, President George W. Bush
signed into law the Newborn Screening Saves
Lives Act of 2007

26. What are the
component of
Newborn Screening ?

27. Components of NBS
1. Education:
Professionals, parents and policy makers
2. Screening:
Collection activities, Specimen delivery,
Laboratory testing and Result reporting
3. Early Follow-up:
4. Diagnosis:
5. Management:
Medical mgt, Long term follow-up, Specimen
mgt
6. Evaluation:

28. What is Newborn
Screening ?

29. Most newborn screening tests are done by measuring
metabolites and enzyme activity in whole blood samples
collected on specialized filter paper
Hearing loss using automated auditory brainstem response.
Congenital heart defects using pulse oximetry
Congenital hypothyroidism and congenital adrenal hyperplasia
Immunoassays measure .
Cystic fibrosis and severe combined immunodeficiency -
Molecular techniques -.
Infants who are screen positive undergo further testing to
determine if they are truly affected with a disease or if the test
result is falsly positive.

30. Ans:
NBS is an essential public health program
To
Screen New Born Babies for
Metabolic disorders
Genetic diseases
Blood diseases
Nongenetic – Toxoplasmosis etc.

31. Q. What is the Goal of NBS ?

32. Ans:
The Goal of NBS is –
Timely detection of disorders - that is during
neonatal period
To Prevent morbidity, mortility & disability
(mental retardation or a lifelong impairment).
By
Early detection
Complex system of Diagnosis
Complexity of Treatment

33. Q. Who should be offer NBS ?

34. Ans: All New Born Babies should be given
Opportunity for New Born Screening .
As all babies looks Normal at birth.
There is variable window period before baby
Develops overt clinical picture of disease after
birth.
Thus one can diagnosing & treat the
disease before obvious clinical manifestation by NBS.
Thus baby with IEM will not develop
catastrophic consequences and complications.

35. Q. How to select diseases under
NBS program?

36. Ans:
The condition sought should be an important health problem
There should be an accepted treatment for patients with recognized
disease.
Facilities for diagnosis and treatment should be available
There should be a recognizable latent or early symptomatic stage
There should be a suitable test or examination
Newborn screening programs initially used
screening criteria based largely on criteria
established by JMG Wilson and F. Jungner in 1968

37. Ans :
The test should be acceptable to the population
The natural history of the condition, including development from
latent to declared disease, should be adequately understood
There should be an agreed policy on whom to treat as patients
The cost of case-finding (including diagnosis and treatment of patients
diagnosed) should be economically balanced in relation to possible
expenditure on medical care as a whole
Case-finding should be a continuing process and not a “once and for
all” project.

38. INDIA
Q. What is basic NBS program?

39. Ans . Basics of Newborn Screening program
vary from country to country -
India core screening should include test for
diagnosis of
Congenital Hypothyroidism Cong.
Adrenal Hyperplasia
G6PD. Cystic fibrosis, Sickle cell anemia
Biotinidase

40. INDIA
Q. What is expanded NBS program ?

41. Ans : Disease under expanded NBS are
diagnosed either by
MS/MS
Tandem mass spectrometry
Like : aminoacidopaties, organic acidemia &
disorder of fatty acid oxidation.

42. Q. When to collect blood for NBS?

43. Ans :
For congenital Hypothyroidism Cord blood can
be collected
For NBS blood should be collected before discharge
Between 72 hours to 7 days, When baby had at least
6-8 times adequate breast feeding.
Metabolism of neonate needs 4-5 days for liver to
function independently, to give true picture of
neonatal marker.

44. Q. How to collect blood for NBS?

45. Specimen Collection: Dried Blood Spots
•Do not touch any of the filter paper circle before or after collection.
•Select puncture site and cleanse with 70% isopropanol.
•Use a sterile, disposable lancet with 2.0 mm, or less, point
•Wipe away first blood drop.
•Use second LARGE blood drop to apply to surface of FDA-approved filter
paper circle.
•If not completely filled, add a second LARGE drop immediately.
•FILL all required circles completely. FILL from only one side of the filter
paper.
•Dry specimen at room temperature 3-4 hours in HORIZONTAL position.
•See NCCLS LA4-A3, 1997. Blood collection on filter paper for neonatal
screening programs; Approved standard.

46. Ans : Blood should be collected from Heel prick
on filter paper with following properties-
Filter paper should be Homogenous
Filter paper should absorb 100ul blood in 12 sec &
Produce circle of 12 mm diameter.

47. What Variables Affects
Measurements for
Specimens Collected on Filter Paper ?

48. Variables Affecting Measurements for
Specimens Collected on Filter Paper
 Handling and storage of paper
 Humidity condition of paper
 Volume of blood collected
 Haematocrit level of blood donor
 Absorption time for blood

49. Q. What precaution should be taken
While collecting blood for NBS ?

50. Ans : Blood should be collected from Heel prick
on one side of filter paper.
Blood should be dried at room temperature.
Blood should not be collected in layers on paper.
Venous blood & syringe should be avoided.
Discard first drop of blood.
Cord blood should be avoided as it is contaminated
with maternal blood

51. When to say specimens is
Unsatisfactory ?

52. Unsatisfactory Specimens
Clotted or Layered
Serum Rings
Specimen Not Dried Before Mailing
Supersaturated
No Blood
Diluted, Discolored, or Contaminated
Scratched or Abraded
Quantity Insufficient for Testing

53. Q. Which new born disorders should
be screened in India ?

54. Ans : for Our country new born screening is
divided into three groups
Group A : All new borns should be screen for
Cong. Hypo-thyrodism
Cong. Adrenal Hyperplasia
G 6-PD
Group B: Screening in the high risk population-
If history of MR, Seizure disorders, Critically ill
new born or SIDS – IEM and consanguinity

55. Phenylketonuria, Homocystinuria, Alkaptonuria,
Galactosemia, Sickle cell anemia, Cystic fibrosis,
Biotinidase def, MSUD, Tyrosinemia, FAOD, MCAD
Group C : Expanded New Born Screening
By TMS screening 30-40 IEM
resource Rich Setting

56. Q. Which new born disorders can be treated ?

57. Ans :
PKU
Congenital Hypothyroidism
Galactosemia
Sickle Cell Disease
Biotinidase Deficiency
Congenital Adrenal Hyperplasia
Maple Syrup Urine Disease (MSUD)
Homocystinuria
Tyrosinemia
Cystic Fibrosis
Toxoplasmosis
Gaucher, MPS, Fabry disease, Pompe disease