This document discusses genetic testing in neonates and children. It covers several topics: 1. Congenital anomalies which are abnormalities present at birth that can be caused by genetic factors like single gene defects or chromosomal disorders, as well as environmental factors. 2. Developmental delay which refers to a child not gaining skills at the expected rate and can be caused by genetic conditions, brain injuries, infections or prenatal exposure to toxins. 3. Dysmorphism which means abnormal body shape or features and can involve conditions like wide or narrow eye spacing. The document also discusses genetic screening techniques like cytogenetic, biochemical and molecular testing to detect chromosome, protein or DNA abnormalities that can cause

2. GRACIOUS COLLEGE OF NURSING ABHANPUR
RAIPUR C.G.
GENETIC TESTING IN THE NEONATES AND
CHILDREN
CHILDREN
PRESENTED BY
OM VERMA
ASSISTANT PROFESSOR

4. A. CONGENITAL ANOMALIES
A. CONGENITAL ANOMALIES

5. A. Congenital anomalies
Congenital anomalies comprise a wide range of
abnormalities of body structure or function that are present
at birth and are of prenatal origin.
Congenital anomaly are a diverse group of disorders of
Congenital anomaly are a diverse group of disorders of
prenatal origin which can be caused by single gene defect
chromosomal disorders ,multifactorial inheritance ,
environmental, tetra gene defect micronutrients
deficiencies .

6. DEFINITION
Congenital disorders can be defined as structural or
functional anomalies that occur during intrauterine life. Also
called birth defects, congenital anomalies or congenital
called birth defects, congenital anomalies or congenital
malformations, these conditions develop prenatally and may
be identified before or at birth,
According to Jennifer Doudna & Samuel H. Sternberg

7. CLASSIFICATION OF BIRTH
DEFECT
DEFECT
( CONGENITAL ABNORMALITIES )

8. MALFORMATION MAY INVOLVE ONE ORGAN/SYSTEM OR
MULTIPLE SYSTEMS :
1. Single system defects (single abnormalities):
Single abnormalities may have a genetic or non genetic basis.
For. e.g., congenital heart defects.
For. e.g., congenital heart defects.
2. Multiple malformation syndromes (multiple abnormalities):
It consists of defects in two or more systems and is more likely
to be due to chromosomal abnormalities.

9. 3. Syndrome: A recognizable pattern of anomalies a
group of signs or changes in the body that are typical of
an illness
4. Malformation: Is a primary structural defect
4. Malformation: Is a primary structural defect
occurring during the development of an organ or tissue.
Partial or complete or alterations in the normal structure
Ex. Cleft lip and cleft palate

10. 5. Dimorphology is the study of malformation
arising from abnormal embryogenesis.
6. Deformation: Abnormal form, shape or
6. Deformation: Abnormal form, shape or
position of a structure caused by mechanical
factors.
7. Dysplasia: Abnormal organization of tissue.

11. 8. Disruption: Morphologic defect resulting
from extrinsic interference with normal
process. Morphological change of the already
formed structure due to exposure to
destructive process.
destructive process.
Ex. Amniotic band syndrome (ABS) occurs
when the lining of the amniotic sac is damaged
during pregnancy,

13. Causes of congenital anomalies:
The common causes can be grouped into three categories:
Genetic, environmental and multifactorial origin.
GENETIC FACTORS: It plays a role in some birth
GENETIC FACTORS: It plays a role in some birth
defects. Genetic causes of congenital anomalies can be
divided into two main categories:
1. Those associated with chromosomal aberration.
2. Those arising from single gene mutations.

14. Chromosomal birth defects:
Abnormalities in the number or structure of
chromo- somes can cause birth defects and is
responsible for about 6% of congenital
abnormalities. Several chromosomal disorders
responsible for about 6% of congenital
abnormalities. Several chromosomal disorders
can lead to spontaneous abortions/miscarriage.
e.g. Down syndrome, Turner syndrome.

15. Single gene defects :
Deletion or mutation in a single gene
can cause congenital abnormalities.
Single gene mutation follow Mendelian
Single gene mutation follow Mendelian
pattern of inheritance and are
responsible for about 7.5% of all
congenital abnormalities..

16. ENVIRONMENTAL CAUSES (TERATOGENS):
An agent which causes a birth defect or mal- formations
of an embryo fetus is known as a teratogen. Teratology is
the study of develop- mental defects . If mother is
exposed to teratogens during pregnancy, it can produce
exposed to teratogens during pregnancy, it can produce
fetal death, growth retardation, fetal malforma- tion or
functional impairment.
The teratogens may be drug, chemical, physical or
biological agents.

17. MULTIFACTORIAL INHERITANCE :
Some birth defects are caused by a
combination of genes and
environmental exposure. Multifactorial
environmental exposure. Multifactorial
inheritance is defined as inheritance of
genes with environmental factors.
E.g.. Neural tube defect, congenital heart
disease

18. B. DEVELOPMENTAL DELAY
B. DEVELOPMENTAL DELAY

19. INTRODUCTION
A developmental delay refers to a child who
has not gained the developmental skills
expected of him or her, compared to others of
expected of him or her, compared to others of
the same age. Delays may occur in the areas of
motor function, speech and language,
cognitive, play, and social skills.

20. CAUSES OF DEVELOPMENTAL DELAY
@.Genetic or hereditary conditions like Down syndrome
@.Metabolic disorders like phenylketonuria (PKU) is an
@.Metabolic disorders like phenylketonuria (PKU) is an
inherited disorder that increases the levels of a
substance called phenylalanine in the blood.
Phenylalanine is a building block of proteins (an amino
acid )

21. @.Trauma to the brain, such as shaken baby
syndrome
Shaken baby syndrome - is a serious brain
injury resulting from forcefully shaking an
injury resulting from forcefully shaking an
infant or toddler. It's also known as abusive
head trauma,

22. @. Severe psychosocial trauma, emotional
trauma such as post-traumatic stress disorder
@.Exposure to certain toxic substances like
@.Exposure to certain toxic substances like
prenatal alcohol exposure or lead poisoning
@.Some very serious infections
@. Deprivation of food or environment

23. @. Premature birth that results in muscles
developing more slowly
@. Genetic causes (such as Down syndrome)
@.Nerve and muscle disorders (such as
@.Nerve and muscle disorders (such as
muscular dystrophy or cerebral palsy)
@. Developmental diagnoses such as autism
@.Hormonal causes such as hypothyroidism

25. Delays in Motor Skills
• Gross motor skills- refer to any type of action that
require a child to move his or her muscles. Gross
motor skills refer to larger movements, such as
crawling, walking, or running.
crawling, walking, or running.
 Fine motor skills- refer to smaller actions, such as
pointing or picking up items with their fingers

26. Delays in Cognitive Skills
• Often referred to as intellectual abilities, such
as verbal and non-verbal skills, attention, focus,
eye coordination and memory
eye coordination and memory
• Babies learn very Slowly , it starts by being
curious and they learn to identify basic colors,
or identify animals in pictures

27. Delayed Social Skills
It is common for children with developmental
delays to have difficulty with social and
emotional skills. For example, they may
have trouble understanding social cues,
have trouble understanding social cues,
initiating communication with others, or
carrying on two-way conversations. They may
also have difficulty dealing with frustration or
coping with change.

28. Delays in Communication Skills
• Communication development refers to
speech abilities and using spoken
language to communicate.
language to communicate.
• It includes issues related to hearing,
seeing and speaking problems

29. Signs and Symptoms of Developmental
Delay
Most common symptoms can include:
@. Learning and developing more slowly than other
children same age
children same age
@.Rolling over, sitting up, crawling, or walking much
later than developmentally appropriate
@. Difficulty communicating or socializing with others

30. @.Lower than average scores on IQ tests
@.Difficulties in Speaking
@.Having problems remembering things
@. Difficulty with problem-solving
@. Difficulty with problem-solving
@.Trouble learning in school
@.Inability to do everyday tasks

31. C. DYSMORPHISM
C. DYSMORPHISM

33. Abnormal Morphogenesis -a biological process that
causes a tissue or organ to develop its shape by
controlling the spatial ( location ) distribution of cells
during embryonic development.
Abnormal Embryogenesis is the process by which an
embryo develops into a foetus. It begins when an ovum
Abnormal Embryogenesis is the process by which an
embryo develops into a foetus. It begins when an ovum
and sperm meet and fertilization occurs. The fertilization
results in the formation of a zygote.
Abnormal Morphogenesis and Embryogenesis it is
called dysmorphism

34. DEFINITION
The condition of having an abnormally
shaped body part, especially as a
shaped body part, especially as a
congenital condition. It is called
Dysmorphism.

36. Abnormal form, shape or position of a structure

37. A dysmorphic feature is an abnormal difference in body
structure.
1. HYPERTELORISM –wide spacing between the eyes
Increased Distance Between
Two Body Parts.

38. A dysmorphic feature is an abnormal difference in
body structure.
2. HYPOTELORISM :- Narrow space between the eye
Abnormal
Decrease In The
Distance
Between The
Two Eyes

39. 3. An epicanthal fold is skin of the upper
eyelid that covers the inner corner of
the eye.

40. BROAD NASAL ROOT,
LOW SET EARS –
Low set ears (pinna), abnormal rotation, the
absence of ears, and abnormal folds in the ear

41. GENETIC SCREENING
GENETIC SCREENING

42. SCREENING
To examine / test/ Identification
somebody to find out if he/she has a
somebody to find out if he/she has a
particular disease and disorders it is
called screening.

43. GENETIC SCREENING - Is really focused on a
whole population of people, Genetic screening
may also be called DNA testing. It's a type of
test that can identify changes in the genes,
chromosomes or proteins in body. Genetic
chromosomes or proteins in body. Genetic
testing takes a sample of blood, skin, hair,
tissue or amniotic fluid. and send laboratory to
identify the causative agents in genetic
disorders .

44. Three categories of genetic testing are
available—
@. Cytogenetic testing,
@. Biochemical testing,
@. Biochemical testing,
@. Molecular testing,
To detect abnormalities in chromosome
structure, protein function and DNA sequence,

45. Cytogenetics –
involves testing samples of tissue, blood, or
bone marrow in a laboratory to look for
changes in chromosomes, including broken,
missing, rearranged, or extra chromosomes.
missing, rearranged, or extra chromosomes.
Changes in certain chromosomes may be a sign
of a genetic disease or condition or some types
of cancer.

46. Biochemical genetic testing involves the study
of enzymes in the body that may be abnormal
in some way. The enzymes may function
improperly or be absent or unstable.
Molecular tests look for changes in one or
Molecular tests look for changes in one or
more genes. These types of tests determine the
order of DNA building blocks (nucleotides) in
an individual's genetic code, a process called
DNA sequencing.