Congenital
Anomalies 1-4 Years
Cause Both
Male Female Rate*
Sexes
1. Pneumonia 1,540 1,341 2,881 37.76
2. Accidents 839 506 1,345 17.63
3. Diarrheas and gastoenteritis of
685 546 1,231 16.14
presumed infectious origin
4. Measles 452 425 877 11.50
5. Congenital anomalies 350 337 687 9.01
6. Malignant Neoplasm 219 153 372 4.88
7. Meningitis 201 155 356 4.67
8. Septicemia 173 173 346 4.54
9. Chronic obstructive pulmonary
174 164 338 4.43
disease and allied conditions
10. Other protein-calorie
175 159 334 4.38
malnutrition
Congenital
Cause
Anomalies 5-9 Years
Male Female Both Sexes Rate*
1. Accidents 1,044 618 1,662 17.82
2. Pneumonia 368 288 656 7.03
3. Malignant
201 169 370 3.97
Neoplasm
4. Congenital
135 131 266 2.85
Anomalies
5. Diarrheas and
gastroenteritis of
112 92 204 2.19
presumed
infectious origin
6. Other diseases
of the nervous 118 83 201 2.15
system
7. Meningitis 105 95 200 2.14
8. Diseases of the
99 75 174 1.87
heart
9. Tuberculosis, all
83 62 145 1.55
forms
10. Septicemia 79 53 132 1.41
Congenital
Anomalies 10-14 Years
Cause Both
Male Female Rate*
Sexes
1. Accidents 938 440 1,378 15.88
2. Malignant neoplasm 223 174 397 4.58
3. Diseases of the heart 189 187 376 4.33
4. Pneumonia 188 171 359 4.14
5. Congenital Anomalies 85 96 181 2.09
6. Tuberculosis, All Forms 97 77 174 2.01
7. Other diseases of the nervous
101 60 167 1.92
system
8. Meningitis 107 60 167 1.92
9. Nephritis, nephritic syndrome and
63 75 138 1.59
nephrosis
10. Septicemia 77 34 111 1.28
What is Newborn
Screening?
• Newborn Screening (NBS) is a simple
procedure to find out if your baby
has a congenital metabolic disorder
that may lead to mental retardation
and even death if left untreated.
Why is it important to have
Newborn Screening?
• Most babies with metabolic disorders
look normal at birth. One will never
know that the baby has the disorder
until the onset of signs and
symptoms and more often ill effects
are already irreversible.
New Born Screening
• Local statistics (NIH Phil, 2004) have
shown that at least 33,000 newborns
can be saved annually from mental
retardation and death through
newborn screening.
New Born Screening
5 disorders:
• Phenylketonuria (PKU)
• Congenital adrenal hyperplasia (CAH)
• Congenital hypothyroidism (CH)
• Galactosemia (GAL)
• Glucose-6-phosphate dehydrogenase
(G6PD)
Congenital Hypothyroidism (CH)
lack or absence of thyroid hormone,
which is essential to growth of the
brain and the body.
If the disorder is not detected and
hormone replacement is not initiated
within (4) weeks, the baby's physical
growth will be stunted and she/he
may suffer from mental retardation.
Congenital
Hypothyroidism (CH)
• Floppy infant
• Thick, protruding tongue
• Poor feeding
• Choking episodes
• Constipation
• Prolonged jaundice
• Short stature
Congenital
Hypothyroidism (CH)
Congenital Adrenal
Hyperplasia
• an endocrine disorder that causes
severe salt lose, dehydration and
abnormally high levels of male sex
hormones in both boys and girls. If
not detected and treated early,
babies may die within 7-14 days.
Congenital Adrenal
Hyperplasia
• In girls:
– Ambiguous genitalia
– Early appearance of pubic and armpit hair
– Excessive hair growth
– Deep voice
– Abnormal Menstrual periods
– Failure to menstruate
• In boys:
– Early development of masculine characteristics
– Well-developed musculature
– Enlarged penis
– Small testes
– Early appearance of pubic and armpit hair
• Both boys and girls will be tall as children but significantly
shorter than
Congenital Adrenal
Hyperplasia
Galactosemia (GAL)
• the body is unable to process
galactose, the sugar present in milk.
Accumulation of excessive galactose
in the body can cause many
problems, including liver damage,
brain damage and cataracts.
Galactosemia (GAL)
• Jaundice
• Vomiting
• Poor feeding
• Poor weight gain
• Lethargy
• Irritability
• Convulsions
Galactosemia (GAL)
Phenylketonuria (PKU)
• is a metabolic disorder in which the
body cannot properly use one of the
building blocks of protein called
phenylalanine. Excessive
accumulation of phenylalanine in the
body causes brain damage.
Phenylketonuria (PKU)
• Skin rashes
• Microcephaly
• Tremors
• Jerking movements of the arms or legs
• Unusual positioning of hands
• Seizures
• Hyperactivity
• Delayed mental and social skills
• Mental retardation
• A distinctive "mousy" odor to the urine, breath,
and sweat
• Light complexion, hair, and eyes
Phenylketonuria (PKU)
Glucose-6-Phosphate
Dehydrogenase Deficiency
(G6PD Def)
• a condition where the body lacks the
enzyme called G6PD.
• Babies with this deficiency may have
hemolytic anemia resulting from
exposure to certain drugs, foods and
chemicals.
Glucose-6-Phosphate
Dehydrogenase Deficiency
(G6PD Def)
• Dark urine
• Enlarged spleen
• Fatigue
• Paleness
• Rapid heart rate
• Shortness of breath
• Jaundice
Chromosomal
Anomalies
What are chromosomal
anomalies?
• reflects an abnormality of
chromosome number or structure
• occur when there is an error in cell
division following meiosis or mitosis
Down's syndrome
• Down syndrome
or trisomy 21 is a
genetic disorder
caused by the
presence of all or
part of an extra
21st chromosome
• Incidence ~ 1 per
800 to 1,000 births
Physical Findings
• Almond shape eyes caused by an
epicanthic fold of the eyelid
• Shorter limbs
• Protuding tongue
Newborns with Down syndrome have
an increased risk of:
• Congenital heart defects
• Gastroesophageal reflux disease
• Recurrent ear infection
• Thyroid dysfunction or disorder
Impairment of cognitive ability
Patau's syndrome
• trisomy 13, additional chromosome 13
due to a non-disjunction of chromosomes
during meiosis
• disrupts the normal course of
development, causing the characteristic
features of Patau syndrome
• the risk increases with increased maternal
age at pregnancy
• 1 in 5,000 live births
Physical Findings
• mental & motor retardation
• polydactyly (extra digits)
• microcephaly
• low-set ears
• holoprosencephaly (failure of the forebrain
to divide properly)
• heart defects
• meningomyelocele (a spinal defect)
• abnormal genitalia
• overlapping of fingers over thumb
Edward's syndrome
• Extra chromosome at chromosome
18 - usually occurs before conception
Rate of occurrence is ~
– 1:3000 conceptions
– 1:6000 live births, as 50% of those
diagnosed prenatally with the condition
will not survive the prenatal period
• Physical findings are similar to that
of Patau’s Syndrome
Cri du chat
• is a rare genetic disorder due to a missing portion
of chromosome 5
• The infant sounds just like a meowing kitten, due
to problems with the larynx and nervous system
Findings
• feeding problems because of difficulty swallowing
and sucking
• low birth weight, hypotonia, microcephaly,
growth retardation, a round face with full cheeks,
down-slanting palpebral fissures, and cardiac
defects (patent ductus arteriosus [PDA], tetralogy
of Fallot)
Turner's syndrome
• monosomy X
• occurs in 1 out of every 2500 female births
• only one X chromosome is present and fully functional
Findings
• Short stature
• Lymphoedema (swelling) of the hands and feet
• Broad chest (shield chest) and widely-spaced nipples
• Low hairline
• Low-set ears
• Reproductive sterility
• Amenorrhea, the absence of a menstrual period
• Increased weight, obesity
Turner
Syndrome Cri du Chat
Klinefelter's syndrome
• Affected males have an extra X sex
chromosome (XXY)
• abnormal testicular development and
reduced fertility
• undiagnosed in most affected males
