REVIEW ON

GENETIC TESTING OF DISORDERS

IN PEDIATRICS

DYSMORPHOLOGY CYTOGENETICS BIOCHEMICAL

GENETICS IMMUNOGENETICS

TESTING FOR
BALANCED
MOLECULAR
CHROMOSOMAL
GENETICS
TRANSLOCATION

CANCER GENETIC
SUSPECTIBILITY COUNSELLING
TESTING

PRE- SYMPTOMATIC , SCREENING

COMMERCIAL DNA TESTING PRENATAL
TESTING BENEFITS & DIAGNOSIS &
HARMS TREATMENT
 BHAVAN’S COLLEGE MUNSHI NAGAR ,
ANDHERI WEST , MUMBAI – 400058
DEPARTMENT OF MICROBIOLOGY

CERTIFICATE

THIS IS TO CERTIFY THAT

MS. VAISHNAVI.V.KAWTHANKAR

ENROLLED FOR M.SC. PART II (AFFILIATED TO MUMBAI UNIVERSITY)

UNDER CBGS IN 2020– 2021 HAS SUCCESFULLY SUBMITTED

A REVIEW ON GENETIC TESTING OF DISORDERS IN PEDIATRICS

OF PAPER III IN THE SEMESTER III OF THE TWO YEARS POST
GRADUATE COURSE.

DATE:

SIGNATURE
HEAD OF MICROBIOLOGY DEPARTMENT
SIGNATURE
STAFF INCHARGE

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 BHAVAN’S COLLEGE MUNSHI NAGAR

ANDHERI WEST , MUMBAI – 400058

DEPARTMENT OF MICROBIOLOGY

NAME : VAISHNAVI .V. KAWTHANKAR

CLASS: MSC PART – II

SUBJECT : PSMB 303- ADVANCES IN BIOTECHNOLOGY :

( REVIEW )

SEMESTER : SEM – III

TOPIC: A REVIEW ON GENETIC TESTING OF DISORDERS IN

PEDIATRICS

TEACHER INCHARGE : Dr. S. L. SAMANT

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 GENETIC TESTING OF DISORDERS IN
PEDIATRICS

 ABSTRACT :

Medical genetics has commenced from basic science . Even before the use of modern laboratory
techniques, pediatrics departments initiated the clinical illustration of simple genetic diseases, syndromes
and major malformations. As genetics has become driving force in medical research and is now addressed
for incorporation into medical practice. Smith coined the term ‘ dysmorphology’ that implies the study of
genetics and embryology in diagnosis of birth defects and developmental abnormalities. Cytogenetics is
branch of genetics that studies structure and behavior of chromosomes as well as their relation to human
disease and its processes . Identification and diagnosis of chromosomal abnormalities in fetus is important
application of prenatal genetics, and allows families of terminating such pregnancies as an options and
pursue pregnancies with normal chromosome. Garrod invented term ‘ Inborn errors of metabolism’, as
majority of these disorders cause mental retardation and physical abnormalities in newborn / infant . As
pediatrics studied methods for treatment and prevention of associated mental retardation. Many
discoveries of fundamentals of human immunogenetics such as structure & variation of human
immunoglobulin molecules & different subtypes of T and B cells, as abnormalities of both T & B cells can
lead to severe combined immunodeficiency. Numerous genes responsible for genetic disease can be
identified and number of diagnostic tests could be performed by molecular techniques . Genetic diseases
can be caused by mutation in genes in children and adults. Diagnosis tool is screening for genetic disease
in children . Prevention is first tool of genetic disorder, was done by genetic counselling . Screening
programs have been developed for detection / prevention of birth of a child with genetic disorder/
allowance for early treatment by new expanded screening programs. Basic requirements for programs
are diagnostic test that has ability to mediate with therapy to improve symptoms / prevent complications.
Many disorders that are not responsive to therapy, prenatal diagnosis & carrier detection can be
performed for parents who have an affected child . Prenatal diagnosis focuses on detection / prevention of
chromosome and genetic abnormalities of fetus in pregnancies at risk. Techniques such as Amniocentesis,
Chorionic villus Sampling, ultrasonography has allowed many families to seek pregnancies of high genetic
risk , when they previously would not have considered pregnancy / would have aborted accidental
pregnancies. Understanding of metabolic pathways have lead to number of metabolic disorders would
avoid deaths / severely compromised conditions. DNA technology have been used in diagnosis of disease,
carrier detection, pre-symptomatic & prenatal diagnosis. DNA testing has its benefits & potential harms.
If report comes negative, it can give emotional relief. Positive report can help in planning, time
adjustment & managing finances . DNA tests can be useful in family planning decisions, as it can help
parents to undergo prenatal diagnosis. Genetic tests can cause distress, anxiety, family rejection if test is
positive. Decision making capacity does not entirely depends on age of child. Geneticist should consider
whether child is interested /not, as request made by parents for particular test. As genetic testing is likely
to have pyschological effects on child. Pharmacogenetic testing is helpful in choosing safest drug . Carrier
testing is requested when relatives are affected with autosomal recessive/ x-linked disease/when parents
are carriers. It would be cautious to test for diseases if children have early onset conditions where in early
prevention / intervention measures can affect diagnosis. Pre-symptomatic diagnosis of each of adult-onset
conditions have different severity. Balanced chromosomal translocations testing is specifically done for
reproductive significance. Molecular testing is helpful in identifying parents with increased susceptibility
to cancer, as child can be at risk. As commercial testing is available widely, there is appearing concern

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 that genetic testing of children is ordered by parents without involvement of health care personnel /child
in decision making .

 REFERENCES :

1) David . L . Rimion and Kurt Hirschhorn , A History of Medical Genetics in Pediatrics , Medical
Genetics Institute , 2004 .

2) Shubha Phadke and Mamatha Gowda , Genetic Testing in Children , Medical Genetics Institute ,
2013 .