2. INTRODUCTION :-
Modern medical technology has facilitated neonatal and children testing which helps screening
for congenital abnormalities (structural or functional anomalies that occur during intrauterine
life). Development delay, dysmorphism( growth and structural defects).
Human genome analysis is now permitting direct comparison of the defective gene with normal
genes which will benefit prenatal as well as neonatal genetic disorder.
Genetic testing in the neonates is highly significant because many genetic disorders do
maximum harm to the individuals only if left undetected, untreated & particularly conditions
involving errors of metabolism.
3. Congenital abnormalities :-
C.A or birth defects may be the result of defect in the genes in intrauterine
environment (maternal disorders, infections, drugs or chemicals).
4. Critical periods of development and
genetic disorder :-
The first trimester is extremely vulnerable period to any disturbance or
malfunction for the developing foetus because basic tissues and organ systems
are being established during this time.
Environmental factors causing abnormalities include radiation, chemicals,
infectious agents etc.
5. During weeks 3 through all organ systems are being formed and all can be
affected adversely by the teratogens ( is the study of the abnormalities of
physiological development).
In later stages of pregnancy most exposure result in CNS and brain damage
known teratogens.
6. Neonatal Screening For Genetic Disorder
Neonatal testing can be performed to diagnose a disorder or screen for a
potential pathologic condition. This can be done by testing newborn blood
sample. The most common tests are for diagnosis of homocystinuria ( the body
can’t process the amino acids methionine this causes a harmful build up of
substances in the blood and urine). Hypothyroidism etc.
Neural tube defects : maternal serum AFP (alpha fetoprotein) test
Errors in metabolism
7. Genetic testing and screening in children
Category I :- Disorders requiring immediate treatment/prevention surveillance :-
1.PKU :- if this disorder not detected in early stage it may damage the brain. Identified by the
presence of phenylpyruvic acid In the urine is due to the lack of the enzymes phenylalanine
hydroxylase.
Multiple endocrine neoplasia : MEN is a group of disorders that affect the body’ s network of
hormone-producing glands. MEN causes over –growth or tumors on one or more endocrine
glands.
8. CATEGORY II :- TESTING ASYMPTOMATIC
CARRIER:-
Haemophilia
Cystic fibrosis :- it is caused by a defective gene that makes the body produce
abnormally thick and sticky fluid called mucus.
9. CATEOGRY III : TESTING HEALTHY YOUNG PERSON
WITH PREDISPOSITION TO DEVELOP DISEASE
BREAST CANCER
10. CATEGORY IV : TESTING HEALTHY YOUNG
PERSON WHO WILL DEVELOP DISEASE :-
HUNTINGTON’S DISEASE :- nerve cells in the brain breakdown over
time.
11. Screening for development delay :-
Development of child depends upon interaction between inborn genetic
condition and envt. Factors like emotional security, love, attention, nutrition,
home environment and culture factors.
It is difficult to take accurate development history due to poor observation and
educational status of mother. Parents often forget early events in the life of child
development.
12. Development scale :-
After a child is referred for screening the development delay should be
suspected if the child is unable to perform the given tasks by the indicated age.
1. By the end of 6 months, a child should :-
- Reach out at toys.
- Turn head in response to name, sound or moving object.
- bring hands together.
- Try to stand while supported.
13. 2. BY the end of 9 month :-
- clap hands
- sit independently
- hold own bottle
- transfer object from hand to hand.
- take baby food from a spoon.
3. By the end of 12 month :-
- say da-da “ma-ma”.
- able to stand up
- stand without support.
14. 4. By the end of 18 months :-
- walk independently
- bring spoon to mouth.
- use 10-15 words spontaneously
-respond to “no” “give me”.
5. By the age of 24 month :-
Run and jump
- play along side other kids
- drink only from a cup
- use own name to refer itself.
15. 6. By the end of 30 months :-
- walk up steps with support.
-use 2-4 words phrases.
- match shapes.
- become interested in older children
- play with toys for their intended use
7. By the age of 3 years :-
- undress and dress self
- use toilet with some help
- use 3-5 sentences.
Build tower of 8-10 blocks
16. Categories of development assessment :-
1. Assessment for motor development ( describe the way in which child develops or acquires
movement patterns and skills).
2. Assessment for fine motor ( reaching, grasping and manipulating objects)
3. Assessment for language
4. Assessment for psychosocial
5. Assessment for cognitive ( the growth of a child’s ability to think and reason.)
17. Dysmorphism :-
Dysmorphism includes disorders that occur due to the abnormality in
embryogenesis( the process of development of an embryo from zygote). and
morphogenesis ( it is a biological process that a tissue or organ to develop).
18. Types :-
1. Structural or normal variants
2. Major Anomalies
3. Minor Anomalies
4. Multiple Anomalies
