This document discusses genetic patterns of common pediatric disorders. It begins by defining genetics and genetic disorders. Genetic disorders can be caused by mutations in genes from one or both parents or environmental factors. The document then classifies genetic disorders into single gene inheritance, multifactorial inheritance, and chromosomal abnormalities. It provides examples of each type and describes inheritance patterns such as autosomal dominant, autosomal recessive, and X-linked. The document concludes by discussing diagnostic tests for genetic disorders during pregnancy and for newborns.

1. GENETIC PATTERNS OF COMMON
PEDIATRIC DISORDERS
Supervised by Presented by
Dr. Seema Chauhan Ruchi Sharma
C.I. cum S.T. MSc. Nursing 1st year
S.N.G.N.C, IGMC Shimla S.N.G.C, IGMC Shimla

2. Genetics is the study of heredity. Heredity
is a biological process where a parent
passes certain genes onto their children or
offspring.
Genetics is build around molecules called
DNA. DNA molecules hold all the genetic
information for an organism. During
reproduction, DNA is replicated and
passed from parent to offspring.

4. TERMINOLOGIES
Genetics: Genetics is a branch of biology
concerned with the study of genes, genetic
variation, and heredity in organisms.
Genetic disorder: A genetic disorder is
caused by completely or partially alteration
in genetic material.

5. HOW GENETIC DISORDER IS
CAUSED?
 A genetic disorder is a
disease caused in whole or in
part by change in the DNA
sequence away from the
normal sequence. Genetic
disorder can be caused by a
mutation in one gene , by
mutations in multiple gene ,
by a combination of gene
mutations and environmental
factors or by damage to
chromosomes.

6. MUTATION
 The changing of the
structure of a gene,
resulting in a variant form
that may be transmitted to
subsequent generations,
caused by the alteration
of single base units in
DNA, or the deletion,
insertion, or
rearrangement of larger
sections of genes or
chromosomes.

7. CLASSIFICATION OF GENETIC
DISORDERS
1. Single gene
inheritance
2. Multifactorial
inheritance
3. Chromosomal
abnormalities

8. SINGLE GENE INHERITANCE
It is also called Mendelian or monogenetic
inheritance. These defects are caused by
mutant genes, either present on only one
chromosome pair that has been matched with
a normal gene from the other parent’s
chromosome or present on chromosomes
from both parents. There are more than 6000
known single-gene disorders, which occur in
about 1 out of every 200 births.

9. AUTOSOMAL DOMINANT INHERITANCE
Autosomal dominant inheritance is
determined by the presence of 1 abnormal
gene on one of the autosomes. The disorder is
transmitted in a vertical (parent to child)
pattern and can appear in multiple
generations.

11. AUTOSOMAL RECESSIVE INHERITANCE
 Autosomal recessive inheritance involves mutations
in both copies of a gene. Examples of autosomal
recessive diseases are cystic fibrosis and sickle cell
disease, phenylketonuria
 The observation of multiple affected members in the
same generation, but no affected family members in
other generations; recurrence risk of 25% for parents
with a previous affected child; males and females
being equally affected.

13. X-LINKED RECESSIVE INHERITANCE
 It demonstrates a recessive pattern of inheritance.
There are more affected males than females because
all the genes on a Man’s X chromosome will be
expressed since a male has only one X chromosome.
On the other hand female will usually need two
abnormal X chromosomes to exhibit the disease and
one normal and one abnormal X chromosome to be
carrier of the disease.

14. X-LINKED DOMINANT INHERITANCE
It occurs when a male has an abnormal X
chromosome or a female has one abnormal X
chromosome. All of the daughters and none of
the sons of an affected male will inherit the
condition, while both male and female
offspring of an affected woman have a 50%
chance of inheriting the condition. Males are
more severely affected than males.

15. MULTIFACTORIAL INHERITANCE
It is also called complex or polygenic
inheritance. Many of the common congenital
malformations such as cleft lip, cleft palate,
spina bifida, pyloric stenosis, clubfoot,
congenital hip dysplasia and cardiac defects
attributed to multifactorial inheritance. These
conditions are thought to be caused by
multiple gene and environmental factors.

16. CONT…
That is combination of genes from both
parents, along with unknown environmental
factors, produces the trait or condition. For
example pyloric stenosis is seen more often
in males, while congenital hip dysplasia is
much more likely to occur in females. In
multifactorial inheritance the likelihood that
both identical twins will be affected is not
100%, indicating that there are non genetic
factors involved.

17. CHROMOSOMAL ABNORMALITIES
Chromosomes, distinct structures made up of
DNA and protein, are located in the nucleus of
each cell. Because chromosomes are the
carrier of the genetic material, abnormalities
in chromosome number or structure can result
in disease. Abnormalities in chromosomes
typically occur due to a protein with cell
division.

18. CLASSIFICATION OF CHROMOSOMAL
ABNORMALITIES
Chromosomal abnormalities: Down’s
syndrome, Turners’ syndrome
Single gene defect: Some cataract, cleft lip
and palate and polydactaly.
Polygenic defect: Some of defects that are
transmitted as a polygenic trait are clubfoot,
congenital dislocation of hip, spinabifida etc.

19. DIAGNOSTIC TESTS
Amniocentesis
Test for chromosomal abnormality, neural
tube defects or specific genetic conditions
of the fetus.
Usually not performed until after 15 weeks
gestation.
Complications- miscarriage, fetal injury,
amniotic fluid leakage, premature labor,
maternal hemorrhage, amniotic fluid
embolism, abruptio placenta and damage to
bladder or intestines.

21. Chorionic villi sampling
Test for chromosomal abnormality, fetal
metabolic or blood disorders, or specific
genetic conditions of the fetus.
Performed at 7-11 weeks of gestation, so
provides early detection early detection of
genetic abnormalities.
Complications- accidental abortion, infection,
bleeding, amniotic fluid leakage, fetal limb
deformities.

23. Triple/ quadruple screen
 A screening test for low-risk pregnant women to
determine pregnancies at an increased risk for open
neural tube defects, Down syndrome and trisomy 18
 Performed between 16 and 19 weeks of gestation.
 Educate mothers that a normal test does not guarantee
a healthy baby.
 Conversely, an abnormal result does not guarantee the
baby has a problem. Additional testing will be
necessary to confirm or rule out a specific genetic
condition.

24. Fetal nuchal translucency (FNT); may be
combined with pregnancy associated
plasma protein (PAAP-A) and beta hCG to
increase detection rate.
Any pregnant woman presenting by 11 to
14 weeks gestation can be screened.
Particularly for women with increased risk
or desire screening for Down syndrome,
trisomy 13, trisomy 18.

25. Ultrasound
 Screen for structural malformations.
 Usually performed at 18 to 20 weeks of gestation;
routinely done.
 Early ultrasound can be performed at 11 to 14
weeks to evaluate for Down syndrome and other
chromosomal abnormalities.

26. Percutaneous umbilical blood sampling
 Detect chromosome abnormalities. Usually done
when diagnostic information cannot be obtained
through amniocentesis, CVS or ultrasound or the
results of these tests were inconclusive.
 Performed at or after 18 weeks.
 Complications- miscarriage, blood loss, infection,
premature rupture of membranes. The risk to the
pregnancy is greater than with other prenatal
procedures such as amniocentesis and CVS.

27. Fetoscopy
 Indicated for woman at risk for delivering a baby with
significant congenital anomalies; can be used to
perform corrective surgery on the fetus.
 Performed during or after 18th week of pregnancy.
 Complications- spontaneous abortion, premature
delivery, premature rupture of membranes, amniotic
fluid leak, intrauterine fetal death, infection.
 Monitor fetus before and after procedure.

28. Gene testing
 To detect abnormalities that may indicate actual
disease or predict future disease. Indicated in the
evaluation of congenital anomalies, intellectual
disability, growth retardation, recurrent miscarriage to
determine reason for the loss of a fetus, prenatal
diagnosis of genetic disease.
 Provide support, information and resources to family.
 Refer to genetic counseling before and after test.

29. Newborn screening (blood)
 Identification of newborns so that treatment can begin
early to prevent impact of disorder such as, severe
cognitive impairment or death.
 Refer to state protocol for fetal/newborn screening for
endocrine disorders.
 Explain to family the rationale and procedure.
 Collect blood sample accurately.
 Collect prior to blood transfusion if possible.

30.  Ideally performed after 24 hours of age; obtain
specimen as close to time of discharge from newborn
or labor and delivery unit as possible and no later than
7 days of age.
 The test is less accurate if done before 24 hours of age
and should be repeated by 2 weeks of age if the
newborn is younger than 24 hours old.
 Screening between 24 and 48 hours is satisfactory, but
optimal screening is performed between 3rd and 5th
days of life.

31. DOWN’S SYNDROME: ALSO
KNOWN AS MONGOLISM
It is the commonest chromosomal anomaly
which was first described by Down in 1866. It
occurs one in every 800 t0 1000 live births. It
occurs more often in Caucasians than in
African-Americans, although the incidence is
unchanged in various socioeconomic classes.

32. ETIOLOGY
The cause is not known, but evidence from
cytogenetic and epidemiologic studies
supports the concept of multiple causality.
Approximately 95% of all cases of Down
syndrome are attributable to an extra
chromosome 21, thus the name nonfamilial
trisomy 21.

33. THIS CONDITION ARISES IN ONE OF 3
WAYS
 Non Disconjunction (94%): Ovum to be fertilized
contains 24 chromosomes i.e. an extra 21st
chromosome, which resulted from unequal
chromosome distribution at the cell division in the
ovary. This type of abnormality occurs particularly
in older women, toward the end of reproductive life.
Abnormal spermatozoa produced by males are non-
competitive with normal sperm, but only one ovum
released, each month and if abnormal it may be
fertilized.

34. CONT…
 Mosaicism (3%): Unequal distribution of
chromosomes during cell division after
fertilization. Some cells then have 46
(normal) chromosome, other 47(trisomy).
 Translocation (3%): The transfer of a
segment of chromosome to a different site
on the same chromosome or to a different
chromosome which cause congenital
abnormality.

35. CLINICAL FEATURES

37. THERAPEUTIC MANAGEMENT
 Evaluation of sight and hearing
 Periodic testing of thyroid function
 Children participating in sports should be
evaluated radiologically for atlantoaxial
instability
 Risk for spinal cord compression
 Support to parents
 Early training with specific limited objectivities
 Group therapy
 Older child needs special school
 Medical problem treated on individual merits

39. PROGNOSIS
Life expectancy for those with Down
syndrome has improved in recent years but
remain lower than for the general
population. More than 80% survive to age
55 years and beyond. As the prognosis
continues to improve for these individuals,
it will be important to provide for their
long-term health care, social, and leisure
needs.

40. NURSING CARE MANAGEMENT
Assisting parents in their physical
adjustment to the neonate
Providing optimal physical care
Preventing infection
Correcting physical problems
Promoting optimal development

41. TRISOMY 13 (PATAU’S
SYNDROME)
Introduction
It was first observed by Thomas Bartholin in
1657, but the chromosomal nature of disease
was ascertained by Dr. Klaus Patau in 1960.
The disease is named in his honor.

42. DEFINITION
It is a chromosomal condition associated with
severe intellectual disability and physical
abnormalities in many parts of the body.
 It is a type of chromosome disorder
characterized by having 3 copies of
chromosome 13 in cells of the body, instead
of usual 2 copies.

43. Incidence- 1 in 5000 live births.
Etiology- It is also more frequent with
advanced maternal age. Patient has
additional chromosome 13.

44. CLINICAL FEATURES OF TRISOMY
13
Usually, all clinical features are not
present in individual.
General- failure to thrive (grow), severe
mental retardation, minor motor
convulsions.
Face- midline or bilateral cleft lip and cleft
palate, either small or no eyes
Cardiac defect 80%.

45. CONT…
Cryptorchidism, deafness, single umbilical
artery.
Clenched hands
Prominent heels and deformed feets
called- “rocker bottom feet”
Extra fingers or toes (polydactyly)
Hernias
Microcephaly

47. DIAGNOSTIC EVALUATION
Ultrasounds or x-rays can reveal abnormal
of the internal organs
MRI or CT scans can reveal cerebral
hemispheres are fused
Chromosomes studies show trisomy

48. TREATMENT
There is no cure for Trisomy 13, and
treatment focus on symptoms. These can
include surgery (to repair cleft lip and
palate, heart defects) and therapy
(physical, occupational and speech
therapy).

49. COMPLICATIONS
Breathing difficulties
Congenital heart defects
Hearing loss
High blood pressure
Intellectual disabilities
Neurological problems
Pneumonia
Seizures
Slow growth

50. TRISOMY 18 (EDWARD
SYNDROME)
Introduction
Next to Down’s syndrome, this is the second
most common autosomal trisomy among live
births. It was discovered by John Hilton
Edwards in 1960.
In this there is extra chromosome or piece of
chromosome. It can be full, partial, or mosaic
and is much more common in females than in
males (80%).

52. Full trisomy 18 is when an individual has
3 copies of chromosome 18 (95%)
Mosaic trisomy 18 arises when there is an
extra copy of chromosome 18 present in
some cells (5%)
Partial trisomy occurs when part of
chromosome 18 is translocated to another
chromosome (Extremely rare)

53. DEFINITION
It is a congenital condition that is
characterized especially by intellectual
disability and by craniofacial, cardiac,
gastrointestinal, and genitourinary
abnormalities, is caused by trisomy of the
human chromosome numbered 18, and is
typically fatal especially within the first
year of life.

54. Incidence- 1 in 5000 live births, female
predominance is 3%.
Etiology- It is similar to Down syndrome more
frequent without advanced maternal age.
Patient has additional chromosome 18.

55. CLINICAL FEATURES
E- Elongated Skull
D- Digits Overlapping
W (V)- Ventricular Septal Defect
(90%)
A- Apnea
R- Rocker bottom feet
D- Dysplastic ears
Intellectual disability

57. EDWARD SYNDROME

58. DIAGNOSIS
Ultrasound- Maternal polyhydramnios
CVS (chorionic villi sampling) - 10-12 weeks
of pregnancy, Removal of a piece of the
chorionic villi
Amniocentesis- 15-18 weeks of pregnancy ,
Withdraw of small volume of amniotic fluid
Blood test

59. TREATMENT
There is no cure for trisomy 18.
Treatment for trisomy 18 consists of supportive
medical care to provide the child with the best
quality of life possible.
Organizations such as the Chromosome 18
Registry & Research Society and the Trisomy
18 Foundation can help them.

60. TURNER SYNDROME (MONOSOMY X)
 Turner syndrome was first discovered in 1938 by Dr.
Henry Turner, an endocrinologist while studying a
group of seven girls who all had the same unusual
development and physical features.
 Turner syndrome is a genetic condition that affects 1
in every 2,000 to 2,500 live-born girlsA girl with
Turner syndrome is missing one whole X
chromosome (45,XO) or part of an X chromosome.
Sometimes, some cells will have 2 X chromosomes,
but other cells have only one (mosaicism).

61. DEFINITION
Turner syndrome is a rare genetic condition in
which a female does not have the usual pair of
two X chromosomes.

62. Incidence- 1 in 2500 live births
Etiology- Maldistribution of chromosomes
during cell division leading to individual with
45 chromosomes a single ‘X’ being only sex
chromosome present.

64. MANAGEMENT
 Cyclic estrogen therapy
 Plastic surgery for webbed neck
 Psychological support often required for the problem
of small stature, infertility etc.
 Patients will need to be monitored for heart defects
and high blood pressure by a cardiologist
 They also need to be evaluated by a nephrologist for
any potential kidney problems.
 Audiological evaluations.
 Educational evaluation is helpful to evaluate learning
and psychological issues

65. KLINEFELTER’S SYNDROME
Klinefelter syndrome is one of the most
common chromosomal disorders, occurring in
one to two per 1,000 live male births. It is
named after the endocrinologist Harry
Klinefelter, who identified the condition in the
1940s. In 1956, identification of the extra X
chromosome was first noticed mice can also
have the XXY syndrome, making them a useful
research model.

66. DEFINITION
 Klinefelter syndrome (KS), also known as 47, XXY
or XXY, is the set of symptoms that result from two or
more X chromosomes in male.
 Klinefelter syndrome is a genetic condition that
results when a boy is born with an extra copy of the X
chromosome.
 Klinefelter syndrome is a common genetic condition
affecting males, and it often isn't diagnosed until
adulthood.

67. Incidence- 1 in 100 live births
Etiology- Affected male has 47 chromosomes,
2 X chromosomes in addition to normal Y.

68. CLINICAL FEATURES
Mildly mentally retarded
Tall stature
Poor musculature.
Small testes with normal leyding cell but
atrophy of seminiferous tubules.
Delayed puberty.
Gynecomastia 60%.
Infertile.
Behavioral and emotional problems common.
It is not usually detected during childhood.

70. MANAGEMENT
Methyl testosterone 20-40 mg/day may reduce
gynaecomastia.
 Treatment of emotional and educational problem.
The surgical removal of the breasts may be
considered for both the psychological reasons and
to reduce the risk of breast cancer.
The use of behavioral therapy can mitigate any
language disorders, difficulties at school, and
socialization.
 An approach by occupational therapy is useful in
children, especially those who have dyspraxia.

71. FRAGILE X SYNDROME
It is the most common inherited cause of
intellectual disability. It is the outcome of a
mutation of a gene (FMR1 [Fragile X mental
retardation]) on the X chromosome. This
mutation essentially “turns off” the gene,
triggering fragile X syndrome. Males and
females are both affected, but is more
commonly seen in males and affected females
usually have milder symptoms.

73. TREATMENT
No medicine can cure it.
Special education to help with learning
Speech and language therapy
Occupational therapy to help with daily tasks
Behavior therapy

74. CYSTIC FIBROSIS (CF)
 CF is inherited in an autosomal
recessive manner.
It is caused by the presence of mutations in
both copies of the gene for the cystic
fibrosis transmembrane conductance
regulator (CFTR) protein. Those with a
single working copy are carriers and
otherwise mostly normal. CFTR is involved
in production of sweat, digestive fluids, and
mucus.

76. CAUSES
CF is caused by a mutation in the gene cystic
fibrosis transmembrane conductance regulator
(CFTR)
In cystic fibrosis, a defect (mutation) in a gene
changes a protein that regulates the movement
of salt in and out of cells. The result is thick,
sticky mucus in the respiratory, digestive and
reproductive systems, as well as increased salt
in sweat.

77. RISK FACTORS
Family history- Because cystic fibrosis is
an inherited disorder, it runs in families.
Race- Although cystic fibrosis occurs in
all races, it is most common in white
people of Northern European ancestry.

78. COMPLICATIONS
Respiratory system complications
Damaged airways (bronchiectasis)
Chronic infections
Growths in the nose (nasal polyps)
Coughing up blood (hemoptysis)
Pneumothorax
Respiratory failure
Acute exacerbations

79. DIGESTIVE SYSTEM
COMPLICATIONS
Nutritional deficiencies
Diabetes
Blocked bile duct
Intestinal obstruction
Distal intestinal obstruction syndrome (DIOS)

80. REPRODUCTIVE SYSTEM
COMPLICATIONS
Almost all men with cystic fibrosis are infertile
because the tube that connects the testes and
prostate gland (vas deferens) is either blocked
with mucus or missing entirely.
Although women with cystic fibrosis may be
less fertile than other women, it's possible for
them to conceive and to have successful
pregnancies. Still, pregnancy can worsen the
signs and symptoms of cystic fibrosis, so be sure
to discuss the possible risks with your doctor.

81. OTHER COMPLICATIONS
Thinning of the bones (osteoporosis)-People
with cystic fibrosis are at higher risk of
developing a dangerous thinning of bones.
Electrolyte imbalances and dehydration-
Because people with cystic fibrosis have saltier
sweat, the balance of minerals in their blood
may be upset. Signs and symptoms include
increased heart rate, fatigue, weakness and low
blood pressure.

82. MANAGEMENT
 Individualized and continued treatment.
 Assessment of specific problems and appropriate
symptomatic management
 Continuous emotional support and guidance
 Respiratory care includes intermittent aerosol therapy,
mucolytic agents, bronchodilators, antibiotics, anti-
inflammatory agents, mist inhalation and postural
drainage.
 Management of diarrhea, steatorrhea, malabsorption
and other gastrointestinal problems should be
performed adequately

83. CONT…
Nutritional support should be provided with
increased caloric intake, supplementation of fat-
soluble vitamins and pancreatic enzyme
replacement. Frequent feeds, gavage feeding or
even gastrostomy feeding is required for the
child suffering from cystic fibrosis.
Genetic counseling and gene therapy.
Early diagnosis with treatment of complications.

84. CLEFT LIP AND CLEFT PALATE
A cleft lip is a physical split or separation of
the two sides of the upper lip and appears as a
narrow opening or gap in the skin of the upper
lip. This separation often extends beyond the
base of the nose and includes the bones of the
upper jaw and/or upper gum. It is the most
common congenital craniofacial anomaly,
occurring once in every 700 births worldwide.

85. DEFINITION
 Cleft lip and cleft palate occur when there is a split or
opening in the lip and when the roof of the mouth
does not close properly during a baby’s early
development inside the womb. Together, these birth
defects commonly are called “orofacial clefts”.

86. INCIDENCE
Cleft lip and palate occurs in about 1 to 2 per
1000 births in the developed world. Cleft lip is
about twice as common in males as females,
while Cleft palate without Cleft lip is more
common in females.

87. RISK FACTORS
Family history
Exposure to certain substances during
pregnancy-pregnant women who smoke
cigarettes, drink alcohol or take certain
medications.
Having diabetes
Being obese during pregnancy

88. CAUSES
 In most cases, the cause of cleft lip and cleft
palate is unknown. These conditions cannot be
prevented. Most scientists believe clefts are due
to a combination of genetic and environmental
factors. There appears to be a greater chance of
clefting in a newborn if a sibling, parent, or
relative has had the problem.

89. PATHOPHYSIOLOGY
 Development of cleft occurs early in pregnancy. The
tissue that forms the lip ordinarily fuses by 5 to 6
weeks of gestation, and the palate closes between 7
and 9 weeks of gestation. Therefore, if either the lip or
palate does not fuse, then the infant is born with a
cleft. Cleft lip or cleft palate may occur in isolation
from one another, but 50% of infants born with cleft
lip also have cleft palate. The cleft may be unilateral or
bilateral.

90. SYMPTOMS
Signs and symptoms of submucous cleft
palate may include:
Difficulty with feedings
Difficulty swallowing, with potential for
liquids or foods to come out the nose
Nasal speaking voice
Chronic ear infections

91. CARE FOR CHILDREN WITH CLEFT LIP AND
CLEFT PALATE OFTEN INVOLVES A TEAM OF
DOCTORS AND EXPERTS, INCLUDING:
Surgeons who specialize in cleft repairs,
such as plastic surgeons or ENTs
Oral surgeons
Ear, nose and throat doctors (ENTs, also
called otorhinolaryngologists)
Pediatricians
Pediatric Dentists
Orthodontists
Nurses

92. CONT…
Auditory or hearing specialists
Speech therapists
Genetic counselors
Social workers
Psychologists
Treatment involves surgery to repair the
defect and therapies to improve any
related conditions.

93. SURGERIES
Cleft lip repair — within the 6 weeks to 3
months of age (cheiloplasty)
Cleft palate repair — by the age of 6 months 5
years (palatoplasty).

95. POSTOPERATIVE
MANAGEMENT
Maintenance of airway
Preventing injury to suture line
Promoting adequate
Encouraging infant-parent bonding

96. PREVENTIONS
Consider genetic counseling
Take prenatal vitamins
Don’t use tobacco or alcohol

97. GENETIC COUNSELING
 According to American society of human genetics,
“Genetic counseling is a communication process that
deals with human problems relating to the occurrence
or risk of occurrence of a genetic disorder in a
family”.

98. STEPS OF GENETIC
COUNSELING
Identify their needs
Family history and history of pregnancy
Establish the diagnosis
Communicate the information learned
Help the concerned individual and family to
adjust psychologically

99. GUIDELINES FOR GENETIC
COUNSELING
 Provided or supervised by a health care professional
 Non genetic health care professionals have a
responsibility to recognize their abilities and
limitation with regard to provision of genetic
services.
 Health care professional should not agree to testing
without pre-test counseling in circumstances where
doing so would go against their professional
judgment.
 Before actual testing take place, there should be free
and informed consent.

100. GENETIC COUNSELING
TEAM
 Family or referring physician
 the geneticist
 the nurse
 other concerned members of the helping
profession

101. PREVENTION OF GENETIC
DISEASE
 Genetic counseling
 Genetic screening and testing
 Premarital counseling
 Pre-implantation genetic diagnosis
 Prenatal diagnosis and selective abortion
 Neonatal screening
 Treatment of genetic disease
 Education

102.  Prevention plays an important role in human genetic
services. Prevention strategies have been developed
for use at the primary, secondary, and tertiary levels.
 At the primary level, the use of folic acid during
pregnancy for the primary prevention of neural tube
defects has recently been demonstrated.
 New born screening is an example of secondary
prevention.
 Tertiary prevention includes comprehensive care given
by specialist clinics that care for individuals with
chronic condition that specially include the
rehabilitative services.

103. ROLE OF NURSE IN GENETIC
COUNSELING
 Recognize or suspect genetic disorders by their physical
characteristics and clinical manifestations.
 Create a genetic pedigree (diagram of a family history),
including causes of death and any genetic linked
ailment.
 Clear up misconceptions and allay feelings of guilt
 Assist with diagnostic process by exploring medical and
family history information.
 Enhance and reinforce self image and self worth of
parents, child or the individual at risk for presenting
with genetic condition.

104.  Encourage interaction with family and friends, offer
referrals, phone number of support group.
 Check with government policy for information and
resources regarding neonate testing required, state
regulations on genetic testing and research.
 Recognize that there are many ethical, legal,
psychosocial and professional issues associated with
obtaining, using and sorting genetic information.
 Be aware of associated professional responsibilities,
including informed consent, documentation in medical
records, medical release and individual privacy of
information.

105. RESPONSIBILITIES OF NURSE IN
GENETICS
Help collect and interpret relevant family and
medical histories.
Identify patients and families who need further
genetic evaluation and counseling and refer them
to appropriate genetic services.
Offer genetics information and resources to
patient and families.
Collaborate with genetics specialists.
Participate in the management and coordination
of care of patients with genetic conditions.

106. BIBLIOGRAPHY
 Marlow Dorothy R., Redding Barbara A.; Textbook of Pediatric
Nursing; Published by Elsevier; Page No. 262-263, 375-378, 534
 Kyle Terri and Carman Susan; Essentials of Pediatric Nursing; 2nd
Edition; Published by Wolters Kluwer; Page No. 1063-1090, 707-710
 Datta Parul; Pediatric Nursing; 3rd Edition; Published by Jaypee; Page
No. 272
 Sethi Neeraj, Awasthi Shikha; Essentials of Pediatric Nursing; 3rd
Edition; Published by Lotus Publishers; Page No. 283,284,481,482
 Yadav Manoj; Child Health Nursing; Edition 2011; S.Vikas and
company(medical publishers) India; Page No. 259-270.
 Basheer Shebeer. P. and Khan S. Yaseen; A Concise Textbook of
Advanced Nursing Practice; 2nd Edition; Published by Emmess
Medical Publishers; Page No. 161, 167-168
 www.wikipedia.com