GENETIC DISORDERS

SCREENING AND
PREVENTION
{ PRESENTER:Ashwin John Mendonca
REGISTER NO:13M5524
MODERATOR:DR.Nishant
Contents

 Definition

 Classification

 Preventive and social measures

 Legislations related to genetic disorders

 Genetic disorder is a genetic problem caused
by one or more abnormalities in the genome
especially a condition that is present from
birth
Classification of genetic
disorders

1.Chromosomal abnormalities
2.Unifactorial diseases
3.Multifactorial disorders
Chromosomal abnormalities

 Chromosomal aberration can be numerical and structural

 Aberration can be related to sex chromosomes or autosomes

 Related sex chromosome eg : klinefelter’s syndrome , turner’s

syndrome

 Related to autosomes eg : down’s syndrome

 Mendelian diseases

 Mendelian diseases are inherited according to the mendelian laws.

 Patterns of inheritance
- autosomal dominant
- autosomal recessive
- X-linked dominant
- X-linked recessive
Autosomal dominant traits achondroplasia
huntington’s chorea
neurofibromatosis

Autosomal recessive traits phenylketonuria

albinism
cystic fibrosis

Recessive x-linked traits hemophilia type a and

type b
color blindness
G6PD deficiency

Dominant x-linked traits vit.D resistant rickets

blood group Xg
 Multifactorial disorders

 Environmental and multiple genes are involved in the mode of

inheritance
 Multifactorial disorders are common disorders of adult life such as
- essential hypertension
- Duodenal ulcer
- diabetes
- ischemic heart disease
- cancers(colon and breast)
 High prevalence in India is due to :
- consanguineous marriages

- high birth rate

- poor governmental facilities

- lack of expertise in genetic counselling

- lack of improved diagnostic facilities

 PREVENTIVE AND
SOCIAL MEASURES
1.Health promotional measures
-eugenics : positive and negative
-euthenics
-genetic counselling
-other genetic preventive measures : consanguineous
and late marriages
2.Specific protection
3.Early diagnosis and treatment
4.Rehabilitation
Eugenics
Galton proposed the term eugenics for science which aims to
improve the genetic endowment of human population.

-negative eugenics:

The aim of negative eugenics is to reduce the frequency of

hereditary disease and disability in the community to as low
as possible.

Eg : people who are suffering from serious hereditary diseases

are sterilized
-positive eugenics
It seeks to improve the genetic composition of the population
by encouraging the carriers of desirable genotype

Its realization is difficult for two reasons-

a. Majority of socially valuable traits have complex
,multifactorial determination , both genetical and
environmental

b. We cannot determine which gene we transmit to our

children
 Euthenics

Science concerned with improving well-being of the mankind by

improving the environment

There should be mutual interaction of hereditary and

environmental factors

Studies with mentally retarded children indicated that exposure

to environmental stimulation improved their IQ
 Genetic counselling
Genetic counselling may be prospective or retrospective

1.Prospective genetic counselling

 This allows for the true prevention of disease

 This approach require identifying heterozygous individuals

for any particular defect by screening procedures and
explaining them the risk of having affected children if they
marry another heterozygote for the same gene.

 For example, sickle cell anaemia and thalassemia

2. Retrospective genetic counselling

 Most genetic counselling is at present retrospective i.e,

the hereditary disorder has already occurred in the
family.

 The methods suggested under retrospective genetic

counselling are
a) Contraception
b) Pregnancy termination
c) Sterilization depending upon the attitudes and
cultural environment of the couples involved
 Others
-consanguineous marriages
when blood relatives marry each other there is an increased risk in
the offspring of traits controlled by recessive genes,and those
determined by polygenes
Premature death is also noted in such offspring
Lowering of consanguineous marriages would be advantageous to
the health of the community
-late marriages
Genetic disorders like down’s syndrome is common in children born
to elderly mothers
Incidence of down’s syndrome in a mother at age 20 is 1:3000 by the
age 40 it is 1:40
 Specific protection

 Protection of individuals and whole communities against mutagens

such as X-Ray and other ionizing radiations and chemical mutagens.

 X-Ray examination of pregnant uterus should be strongly deprecated.

 Patients undergoing X-Ray examination should be protected against

unnecessary exposure of gonads.

 Rh hemolytic disease of the newborn can be preventable by

immunization by anti-D globulin.
Early Diagnosis and Treatment

A . Detection of genetic carriers

B . Prenatal diagnosis
C . Screening of newborn infants
D . Recognizing pre-clinical cases
Detection of genetic carriers

 It is possible to identify the healthy carriers of a number of genetic

disorders ,especially inborn errors of metabolism.

 Eg : female carriers of duchenne type of muscular dystrophy can be

detected by elevated levels of serum creatine kinase in 80 per cent of
carriers.
Prenatal diagnosis
indications methods
a. Advanced maternal age Cytogenetics
Previous child with chromosomal Protein assay
aberration DNA diagnosis sonography
Intrauterine growth delay
b. Biochemical disorders Fetoscopy
c. Congenital anomaly Maternal serum alpha fetoprotein and
chorionic gonadotropin
d. Screening for neural tube defects and
trisomy
amniocentesis
 Amniocentesis is done around 14 -16 weeks of gestation
 Conditions associated with chromosomal abnormalities can be
identified
 It is the examination of amniotic fluid .
 It makes possible the prenatal diagnosis of chromosomal anomalies.
 Diagnosis is made by culture and karyotyping of fetal cells

 Indications

-mother aged 35 years and above

-patients who have had a child with down’s syndrome
-parents who are known to have chromosomal translocation
-parents who have had a child with a metabolic defect
-family history of a sex-linked genetic disease
Screening of newborn infants

 Neonates can be screened for genetic abnormalities.

 Some genetic disorders like hip dislocation can be corrected

at this stage
 Heel-prick blood samples are collected at 5-10 days after

birth
 Neonatal screening for hypothyroidism

 Sickle-cell disease can be detected by electrophoresis

 Cystic fibrosis can be detected by measuring immunoreactive

trypsin in guthrie blood spots

Recognizing pre clinical cases

 Early diagnosis of hereditary diseases

Eg : heterozygotes for phenylketonuria can be detected by a

phenylalanine tolerance test

Thalassemia can detected by studying the blood picture

Simple urine examination for sugar after breakfast can detect

diabetes
 Rehabilitation

 With many genetic or partially genetic conditions causing physical or

mental disability rehabilitation can be done to the patient and the
family in helping him to lead a better and more useful life
Legislations related to genetic disorders

1) The preconception and prenatal diagnostic techniques (PC-PNDT)

(Prohibition of sex selection) act, 1994 (Amended rule 2003)

2) The medical termination of pregnancy act 1971(Amended act,

2002 and amended rules, 2003
PC-PNDT ACT, 1994

 This act was enacted for the prohibition of sex selection, before or
after conception, and for the regulation of pre natal diagnostic
techniques for the purposes of detecting genetic abnormalities or
metabolic disorders or chromosomal abnormalities or congenital
malformations or sex linked disorders and for the prevention of their
misuse for sex determination leading to female feticide.

 This act was brought into operation from 1st January 1996

 The act extends to the whole of india except Jammu Kashmir

 Regulation of prenatal diagnostic technique

 No person or place or centre shall be used or caused to be used by

any person for conducting prenatal diagnostic techniques except
for the purposes of detecting following abnormalities
a) Chromosomal abnormalities
b) Genetic metabolic diseases
c) Hemoglobinopathies
d) Sex-linked genetic diseases
e) Congenital anomalies
f) Any other abnormalities or diseases as may be specified by the
central supervisory board
 Following conditions must be fulfilled:

a) Age of the pregnant woman is above 35 years;

b) The pregnant woman has undergone two or more spontaneous
abortions or fetal loss;
c) The pregnant woman had been exposed to potentially teratogenic
agents such as drugs, radiation, infection or chemicals;
d) The pregnant woman or spouse has a family history of mental
retardation or physical deformities such as spasticity or any other
genetic disease;
e) Any other condition as may be specifies by the board;
 Prenatal diagnostic tests cannot be conducted unless:

a) All side and after effects of such procedures have been explained to
the concerned pregnant woman;
b) Her written consent to undergo such procedures has been obtained
in the language she understands;
c) A copy of her written consent obtained is given to the pregnant
woman;
 MTP ACT, 1971
 Pregnancies which can be terminated by a registered medical
practitioners under the act:

a) Where the length of the pregnancy does not exceed 12 weeks;

b) Where the length of the pregnancy exceeds 12 weeks but does not
exceed 20 weeks, if not less than two medical practitioners are of the
opinion formed in good faith.
That:
- Continuation of pregnancy would involve a risk to the life
- There is substantial risk that if the child was born it would suffer
from physical or mental abnormalities
- If pregnancy is alleged by the pregnant woman to have caused by
rape
- Failure of contraception used by married woman or her husband
No pregnancy of a woman, who had not attained the age of 18
years or who having attained the age of 18 years, is mentally ill
person shall be terminated without the consent in writing of her
guardian.
 Rashtriya bal swasthya karyakram

 RBSK is a new initiative launched in February 2013

 It includes provisions for child health screening and early intervention

services through early detection and management of 4 D’s, prevalent in
children

 These are defects at birth, diseases in children, deficiency conditions and

development delays including disabilities

 An estimated 27 crore children in the age group of 0-18 years are

expected to cover across the country in a phased manner
 Programme implementation

1) For new born:

- Facility based newborn screening at public health facilities, by existing
health man power.
- Community based newborn screening at home through ASHA’s for
newborn till 6 weeks of age during home visits.

2) For children 6 weeks to 6 years:

- Anganwadi centre based screening by dedicated mobile health teams.

3) For children 6 years to 18 years:

- Government and government aided school based screening by
dedicated mobile health teams.
Thank you