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Wilfredo R. Santos, MD
Neonatologist
CASE NO. 1
Baby Boy M was born via NSD to a 32 year old G2P1 mother who had regular prenatal check-up and had UTI at 8 months AOG. At birth, he had good cry with an APGAR score of 8,9. Patient was term with a BW = 3.2 kg. He was breastfed and was apparently well until after a week manifested vomiting, jaundice and seizure
CASE NO. 2
Baby Girl C was born via CS to a 34 year old G1P0 mother who had placenta previa totalis. Patient was born preterm at 32 weeks AOG and had an AS of 6,7,8 BW= 1.9 kg . She was ventilated with ET CPAP for a week , The course of the NICU stay was uneventful and she was discharged at 2 wks old. However, poor weight gain and failure to thrive was noted at 1 year old prompting the pediatrician to work up the patient.
Who to screen?
All newborns
When to screen?
- Ideally at third day of life - after at least 24 hours of full feeding
CONGENITAL HYPOTHYROIDISM
A disorder affecting infants from birth, is due to the absence or deficiency of the thyroid hormone
Thyroid hormone is responsible for the normal function of certain body organs (bone, muscle, teeth, heart, bowels) and is essential for normal brain development.
1). Defective development of the thyroid gland 2). Development of the thyroid gland in an abnormal location 3). Maternal intake of anti-thyroid medication or excess iodine 4). Inherent defect in thyroid hormone production
CLINICAL MANIFESTATIONS: Most of the time, babies with CH appear normal at birth. Clinical diagnosis occurs in less than 5% of newborn because sign and symptoms are often subtle and minimal and non-specific
Laboratory Diagnosis of CH
Newborn Screening High TSH and T4 levels are confirmatory of CH Thyroid scan Bone age TREATMENT of CH: Thyroid hormone replacement (L-thyroxine 10-15 mg/kg)
Congenital Hypothyroidism
Results from deficient production of thyroid hormone or a defect in its receptor Thyroid hormone is essential to the growth of the brain and body Most infants with CH are asymptomatic at birth Early diagnosis and treatment of hypothyroidism in the newborn prevents mental retardation
Congenital Hypothyroidism
Newborn screening programs are designed to detect elevated serum TSH levels in blood.
Before the advent of screening, less than 1/3 of affected infants were diagnosed before 3 months of age and only by 6 months of age; irreversible brain damage developed in most of these infants
Types of CAH
1). 21-hydroxylase (90%) 2). 11-hydroxylase (5%) 3). 3-beta hydroxydehydrogenase and isomerase 4). 20,22 desmolase 5). 17-hydroxylase Salt-losers ( 80%) Non salt-losers (20%)
Diagnosis of CAH
In girls: - Abnormal sex organ - Early appearance of pubic & axillary hairs - Excessive hairs - Deep voice - Failure to menstruate - Abnormal menstrual period In boys: - Enlarged penis - Early increase in height - Early appearance of pubic & axillary hairs - Early development of masculine characteristics - Small testes upon reaching adolescence
PHENYLKETONURIA
Inherited enzyme deficiency prevents the baby from utilizing proteins properly Phenylalanine excess disrupts normal metabolism and causes brain damage
If not diagnosed and treated early, mental retardation almost always occur
Treatment only involves a special diet Normal development is possible with early treatment
What is Phenylketonuria?
Phenylketonuria or PKU is a condition characterized by high serum levels of phenylalanine and phenylketones in the urine due to absence of the enzyme phenylalanine hydroxylase. PKU is an autosomal recessive disorder due to defective gene locus on the q22q24.1 band region of chromosome 12
Diagnosis of PKU
CLINICAL MANIFESTATIONS: - impaired brain development - musty body odor, eczema - lighter skin and hair color (decreased tyrosine levels) - exaggerated DTRs, paraplegia, hemiplegia
Treatment of PKU
Diet consisting of low phenylalanine and controlled amounts of tyrosine and other amino acids Special milk formula
Galactosemia
Babies with this disorder cannot metabolize galactose Accumulation of galactose in the body can cause multiple problems brain damage, cataracts, liver cirrhosis
What is Galactosemia?
It is an autosomal recessive disorder characterized by the bodys inability to use galactose as a source of energy. 3 Enzyme deficiencies: 1). Galactokinase, which converts galactose to galactose-1-phosphate 2). Uridine diphosphate (UDP) galactose-4epimerase 3). Galactose-1-phosphate uridyltransferase (GALT) - responsible for hereditary or classical galactosemia
Flow Chart
OB explains Newborn Screening to mothers
Consents obtained by OB
Positive screen
Negative screen
Saves families from the frustrating and heartbreaking task of caring for an affected child
6. Contamination
7. QNS to complete testing
If
initial sample was collected posttransfusion, testing should be done at 6,30 and 60 days of life.
THANK
YOU !