Ethics
This document was uploaded by user and they confirmed that they have the permission to share it. If you are author or own the copyright of this book, please report to us by using this DMCA report form. Report DMCA
Overview
Download & View Ethics as PDF for free.
More details
- Words: 1,198
- Pages: 33
Congenital Anomalies
1-4 Years
Cause 1. Pneumonia
Male
Female
Both Sexes
Rate*
1,540
1,341
2,881
37.76
2. Accidents
839
506
1,345
17.63
3. Diarrheas and gastoenteritis of presumed infectious origin
685
546
1,231
16.14
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
174
164
338
4.43
175
159
334
4.38
9. Chronic obstructive pulmonary disease and allied conditions 10. Other protein-calorie malnutrition
Cause 1. Accidents 2. Pneumonia 3. Malignant Neoplasm 4. Congenital Anomalies 5. Diarrheas and gastroenteritis of presumed infectious origin 6. Other diseases of the nervous system 7. Meningitis 8. Diseases of the heart 9. Tuberculosis, all forms 10. Septicemia
Congenital Anomalies 5-9 Years
Male
Female 1,044
618
Both Sexes 1,662
Rate* 17.82
368
288
656
7.03
201
169
370
3.97
135
131
266
2.85
112
92
204
2.19
118
83
201
2.15
105
95
200
2.14
99
75
174
1.87
83
62
145
1.55
79
53
132
1.41
Congenital Anomalies
10-14 Years
Cause
Male
Female
Both Sexes
Rate*
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 system
101
60
167
1.92
8. Meningitis
107
60
167
1.92
9. Nephritis, nephritic syndrome and nephrosis
63
75
138
1.59
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
1-4 Years
Cause 1. Pneumonia
Male
Female
Both Sexes
Rate*
1,540
1,341
2,881
37.76
2. Accidents
839
506
1,345
17.63
3. Diarrheas and gastoenteritis of presumed infectious origin
685
546
1,231
16.14
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
174
164
338
4.43
175
159
334
4.38
9. Chronic obstructive pulmonary disease and allied conditions 10. Other protein-calorie malnutrition
Cause 1. Accidents 2. Pneumonia 3. Malignant Neoplasm 4. Congenital Anomalies 5. Diarrheas and gastroenteritis of presumed infectious origin 6. Other diseases of the nervous system 7. Meningitis 8. Diseases of the heart 9. Tuberculosis, all forms 10. Septicemia
Congenital Anomalies 5-9 Years
Male
Female 1,044
618
Both Sexes 1,662
Rate* 17.82
368
288
656
7.03
201
169
370
3.97
135
131
266
2.85
112
92
204
2.19
118
83
201
2.15
105
95
200
2.14
99
75
174
1.87
83
62
145
1.55
79
53
132
1.41
Congenital Anomalies
10-14 Years
Cause
Male
Female
Both Sexes
Rate*
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 system
101
60
167
1.92
8. Meningitis
107
60
167
1.92
9. Nephritis, nephritic syndrome and nephrosis
63
75
138
1.59
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
