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Neonate > Exam 2 > Flashcards

Exam 2 Flashcards

1
Q

Series of blood tests performed on a neonate with the goal of early identification and treatment of disease

A

newborn screening

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2
Q

newborn screening consists of

A
  1. Individual tests for specific diseases (PKU)
  2. Tandem mass spec
  3. Genetic probes
  4. Hearing screen
  5. Pulse oximetry screening
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3
Q

Galactosemia screening was adopted in all 50 states when

A

mid 1970’s

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4
Q

Features of any Screening Test (6)

A
  1. High sensitivity
  2. Disease with severity which would warrant early detection
  3. Cheap, easy and fast
  4. Definitive test is available
  5. Early detection can change the course of the illness
  6. Treatment available- historically a requirement, now contorversial
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5
Q

the probability that a person who truly has a disease will have a positive test. This is a “true positive”

A

sensitivity

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6
Q

Screening tests should have a very high _____ rate, though it means sacrificing ____

A

high sensitivity rate

specificity

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7
Q

the probability that a person who really does not have the disease will have a negative test. This is a “true negative.”

A

specificity

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8
Q

true positive

A

sensitivity

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9
Q

true negative

A

specificity

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10
Q

a person who tests as negative but who is actually positive

A

false negative

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11
Q

a person who tests as positive but who is actually negative

A

false positive

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12
Q

the likelihood that a person has the disease given a positive test result

A

positive predictive value

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13
Q

the likelihood that a person does not have the disease given a negative test result

A

negative predictive value

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14
Q

who mandates and gives states time to comply as states have particularities

A

HHS

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15
Q

what are the screening requirements for CO

A

initial and second test screening (second test around 1-2 weeks of age)
**some diseases show up later and can be missed at birth screening like thyroidism

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16
Q

tests currently being screened in CO (9)

A
  1. Phenylketonuria*
  2. Congenital Hypothyroidism*
  3. Hemoglobinopathies*
  4. Galactosemia
  5. Cystic Fibrosis
  6. Biotinidase Deficiency
  7. Congenital Adrenal hyperplasia*
  8. B.A.E.R. (hearing test)
  9. TANDEM Mass spect
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17
Q

what tests use dried blood spot sample

A
  1. PKU
  2. Hypothyroidism
  3. Sickle cell disease
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18
Q

First and classic congenital disease identified by newborn screen

A

PKU

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19
Q

a disorder of amino acid metabolism where branched chain AA are not broken down appropriately caused by an enzyme deficiency

A

PKU

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20
Q

sx include:

  • neurodevelopmental problems:
  • Developmental delay to severe cognitive impairment
  • Seizures
  • Autism
  • Hyperactivity
  • Aggressive behavior
  • Hair and skin changes incl. hypopigmentation (from lack of melanin)
A

PKU

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21
Q

How is PKU treated?

A

-restricted diet- elimination of certain amino acids**Children of mom off diet during pregnancy at risk for congenital heart disease

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22
Q

Most common true positive test

and most common test to be missed on 1st screening and picked up on second screening

A

hypothyroidism

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23
Q

when do you check for hypothyroidism

A

Check as close to or after 24 hours bc there is a TSH spike immediately after birth which can alter results

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24
Q

if mom is on TH what can happen to the babys results

A

get false positive

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25
Q

Untreated, causes “cretinism”

A

hypothyroidism

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26
Q

sx include:

  1. “cretinism”
  2. Cognitive impairment
  3. growth and neurologic abnormalities,
  4. fatigue,
  5. skin changes,
  6. coarse hair
  7. large tongue
A

hypothyroidism

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27
Q

how is hypothyroidism treated

A

Thyroid hormone for life

*normal IQ, good health

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28
Q 
sx include:
Painful crises
Aplastic crises
Predisposition to infection
Tendency toward infarction
Bony changes associated with high blood cell turnover
A

sickle cell disease

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29
Q

caused by ectopic thyroid gland (migrated wrong)

A

hypothyroidism

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30
Q

commonly causes bone marrow to shunt down or infarct of the spleen

A

sickle cell disease

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31
Q

sickle cell is screen by screening for what conditions

A

Hemoglobinopathies Screen

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32
Q

diagnostic/confirmatory test and screening test for sickle cell disease

A

screening: isoelectric focusing

diagnostic/confirmatory: hemoglobic electrophoresis

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33
Q

treatment of sickle cell

A
  1. Early immunization against “encapsulated organisms,” pneumococcus and H.flu
  2. Penicillin prophylaxis
  3. Early treatment of crises
  4. Attention toward hydration
  5. Avoid triggers such as infection, hypoxia (such as altitude)
  6. Genetic counseling of parents
  7. Pain meds
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34
Q

Disorder of membrane transport of ions, specifically sodium and chloride (usually genetic mutation)

A

cystic fibrosis

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35
Q

sx include:
1. Chronic lung disease
(secretions can’t be cleared and act as plugs)
2. Chronic infection
3. Malabsorption/ malnutrition
(secretions are thick and block pancreatic function)

A

CF

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36
Q

treatment of CF

A
  1. C.F. is managed, not cured
  2. Antibiotics, preventive and therapeutic
  3. Bronchodilators
  4. Exogenous pancreatic enzymes
  5. Attention to nutrition
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37
Q

how do you screen for CF

A
  1. Screen measures immunoreactive trypsinogen
  2. Definitive test is sweat chloride
  3. Genetic testing for specific mutation
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38
Q

an analytic instrument that separates and determines the quantity of ions in a sample based on mass-to-charge ratios

A

TANDEM Mass Spectrometry

*difficult to determine normal ranges

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39
Q

TANDEM Mass Spectrometry is used to detect primarily what kind of disorders

A
  1. organic metabolism
  2. AA metabolism
  3. FA metabolism
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40
Q

How do you screen for Medium chain Acyl-CoA dehydrogenase deficiency

A

MASS spect

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41
Q

Times of stress and fasting, will cause hypoglycemia and shock

A

M.C.A.D

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42
Q

treatment of M.C.A.D.

A

Treatment is to avoid fasting & dehydration and administer carnitine
(might need IV hydration)

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43
Q

Most debilitating human lymphoid deficiency disease

A

severe combined immune deficiency (SCID)

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44
Q

impairs the differentiation of both T and B lymphocytes

A

SCID

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45
Q

Infants are highly susceptible to recurring infections of viruses, fungi and bacteria

A

SCID

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46
Q

how is SCID inherited

A

X-linkedor autosomal recessive control

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47
Q

how is SCID tested for

A

genetic probe

confirmatory test- gentic marker

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48
Q

how do you treate SCID

A

bone marrow transplant

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49
Q

hemoglobin is a tetramer of 4 beta strands

A

Bart’s hemoglobin

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50
Q

normal adult hemoglobin has what

A

Hbg A, has 2 alpha and 2 beta strands

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51
Q

testing for bart’s hemoglobin

A
  1. genetic probe

2. confirmatory test- hemoglobin electrophoresis

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52
Q

One gene missing

A

silent carrier

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53
Q

2 missing genes

A

Alpha-thal trait

*usually do well clinically

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54
Q

3 missing genes

A

alpha-thal major

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55
Q

sx include:
hydrops fetalis
incompatible with life because of inability to carry oxygen to tissues leading to high output congestive heart failure, hepatosplenomegaly, and end organ failure.
Demise occurs in utero or short after birth usually.

A

alpha-thal major

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56
Q

distribution of Alpha-thalassemia

A

along the malaria belt

*same as sickle cell disease

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57
Q

the 2ndmost frequently observed autosomal recessive lethal disorder

A

spinal muscular atrophy (SMA)

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58
Q

types of SMA

A

type 1- lethal in first year
type 2
type 3- may live into adulthood

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59
Q

how do you screen for SMA

A

preparation of genomic DNA , a “calibrated short-amplicon genotyping”, and high-resolution melt profiling

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60
Q

high prevalence in Navajos

A

SCID

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61
Q

when does the 1st newborn screening take place

A

24-48 hrs after birth bc you need several feedings first

ex. galactosemia

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62
Q

when does the 2nd newborn screening take place

A

8-14 days

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63
Q

How is the dried blood test administered?

A
  1. Blood is drawn from baby’s heel and allowed to dry on filter paper
  2. Sent to Colorado Dept. of Public Health and Environment where individual tests are run
  3. Results sent to hospital, PCP, specialty follow-up clinics and definitive tests arranged with families
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64
Q

secondary causes of congential hearing loss

A

irreversible and permanent impairments in:

speech, language, and cognitive abilities

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65
Q

how do you test for congenital hearing loss

A

BAER
Brainstem auditory evoked response measures brainwave response to broadband click
*non-invasive
*most accurate a 2 weeks but do it at birth when newborns are captive

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66
Q

The first non-blood test screen

A

BAER hearing screening

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67
Q

how do you screen for CCHD

A

pulse oximetry

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68
Q

heart disease comprises those lesions that require intervention within 1st month of life

A

cirtical heart disease

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69
Q

pulse ox helps screen for these CHDs

A
  1. Tetralogy of Fallot
  2. Transposition of Arteries
  3. Truncus Arteriosis
  4. Tricuspid Atresia
  5. TAPVR
  6. Pulmonic Stenosis
  7. Hypoplastic Left Heart
  8. Coarctation of the Aorta
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70
Q

where do you place the pulse ox probe on the baby

A

Place probe on right hand (preductal) and one foot (postductal)

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71
Q

Room air saturation less than ____% requires further workup

A

95%

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72
Q

what is the definitive test for CCHD

A

echo

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73
Q

Approximately ____ % of all newborns have a major malformation diagnosable at birth

A

2%

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74
Q

What is the most common cause of infant mortality in the US

A

Malformations

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75
Q

groups of anomalies occurring together with a common cause

A

syndrome

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76
Q

groups of anomalies occurring together more often than chance alone would allow but cause is unknown

A

associations

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77
Q

one primary defect causes the next, which causes the next

A

sequence

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78
Q

presents with:

  • Small chin causes tongue to be pushed up and back (glossoptosis)
  • Position of tongue prevents normal closure of palate, causing cleft palate
A

Pierre Robin Sequence

*cause is unknown

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79
Q

PIerre Robin Sequence results in

A

Results in obstruction of airway and feeding difficulties

*tends to improve as mandible grows in the first year of life

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80
Q

complete or partial absence or abnormal formation of a structure caused by environmental or genetic factors which interfere with development

A

malformation

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81
Q

a body part which was forming normally but was acted upon by environment to be distorted. Most often, musculoskeletal and fixable

A

deformation

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82
Q

a body part was forming normally when an event occurs that changes it dramatically and irreversibly– often amniotic bands or vascular accident

A

disruption

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83
Q

the inner membrane of the sac which contains the fetus

A

amnion

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84
Q

example of a disruption

A

amion acting as a tourniquets causing amputations

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85
Q

Club foot, properly known as “talipes equinovarus” is an example of what

A

deformation

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86
Q

Caused by in utero positioning and restriction of movement

Can not be passively moved back to normal anatomic position

A

club food deformation

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87
Q

when is the most common ttime for a malformation to occur

A

period of organogenesis

weeks 3-8

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88
Q

an example of a malformation

A

CHD

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89
Q

Physical exam findings that occur in less than 4% of population but have no major intrinsic medical significance

A

Minor malformation

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90
Q

most minor malformations are found where

A

face or hands (70%)

ex. syndactyly

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91
Q

___% of neonates have 1 minor anomaly

___% of neonates have 1 major anomaly

A

15-20% minor

3% major

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92
Q

Single, uninterrupted horizontal crease on palm

Previously called “simian crease”

A

transverse palmar crease

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93
Q

transverse palmar crease occurs in __% of babes with down syndrome and ___% of chinese

A

45% of down syndome babes

16% of chinese -considered a normal variant

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94
Q
  • occur in preauricular region from tragus to corner of mouth
  • Can be associated with hearing loss if bilateral- hearing screen
A

ear tags

*Not associated with renal disease

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95
Q

examples of major malformations

A

omphalocele

CHD

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96
Q

____ % of all malformations occur as isolated malformation: i.e., not as part of a syndrome

A

70%

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97
Q

Multiple malformations are usually due to what etiology

A

Chromosomal : 14.7%
Single gene: 2.5%
Teratogen: 0.4%

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98
Q

types of chromsomal disorders

A
  1. Abnormalities of number- eg. Trisomy v. triploidy

2. Abnormalities of structure- eg. Deletions or duplications of portions of chromosome

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99
Q

a subset of genetics in which we look at the turning on or off of specific genes

A

genomics

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100
Q

Explains how normal tissues vary from organ to organ

Also explains how teratogens can effect the expression of an individual’s genetic makeup

A

genomic defect

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101
Q

2 techniques used for prenatal diagnosis of genetic defects and what they can be used for

A

2 techniques:

  1. Amniocentesis
  2. Chorionic villus sampling

Can be used for:

  1. Biochemical screening
  2. Genetic screening (karyotype and FISH probe)
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102
Q

Under ultrasound guidance, a spinal needle is inserted through the maternal abdominal wall and uterine wall, into a pocket of amniotic fluid
r

A

amniocentesis

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103
Q

risks of amniocentesis

A
  1. fetal loss
  2. damage to fetal structures
  3. leakage of amniotic fluid

*risk is greater in 1st trimester than second

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104
Q

amniotic fluid contains

A

cells from skin and kidney

  • and then cultured, karyotyped, or FISH technique
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105
Q

how is amniotic fluid made/cycled

A

amnion makes fluid, baby swallows it and then “urinates” it back into the amniotic sac

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106
Q

Needle biopsies a portion of the chorion

Approach may be trans-vaginal or trans-abdominal, depending upon location of the placenta

A

Chorionic Villus Sampling

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107
Q

when is Chorionic Villus Sampling best performed

A

11-13 weeks

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108
Q

risks of Chorionic Villus Sampling

A

2-3% risk of fetal loss

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109
Q

Why make the diagnosis of a syndrome in a neonate?

A
  1. External signs give clues to serious, internal malformations
  2. Enables provider to help family plan early interventions for expected issues
  3. Genetic counseling; incl. likelihood of recurrence
  4. Helps family to deal with uncertainty (prognosis, prediction of potential future problems, community support)
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110
Q

Visual inspection of chromosomes and their banding (ID’s all types of specific abnormalities)

A

karyotyping

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111
Q

indications for karyotyping (5)

A
  1. Confirmation of a known syndrome
  2. Infants with multiple congenital anomalies
  3. Child with developmental delays and morphologic changes
  4. Ambiguous genitalia
  5. Still born infant with malformation
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112
Q

advantage of karyotyping

A
  1. Can see structure of chromosomes.

2. Human genome project has enabled us to make more diagnoses based on karyotype

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113
Q

disadvantage of karyotyping

A
  1. needs to grow in tissue culture, therefore takes about a week to get results
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114
Q

DNA probe + label
Hybridize with sample cells
Fluorescent detector

A

FISH Probe

Fluorescent In Situ Hybridization

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115
Q

disadvantage of FISH

A

Asks a specific question; ie. You have to have the disorder in mind when selecting which probe to use.

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116
Q

advantage of FISH

A

results in 24 hrs

117
Q

what is the difference between complete and mosaic trisomy 21

A

complete- 100% of cells involved

mosaic- varying percentage of cells involved

118
Q

Clinical Features of Down Syndrome at Birth

A
  1. Hypotonia
    (tongue protrudes, more due to tone than size)
    Hyperflexibility of joints
  2. Typical facies
  3. Typical features of hands (transverse palmar crease, clinodactyly)
  4. typial features of feet (sandal toe, flat feet)
  5. small penis and testes
119
Q

facies of down syndrome (5)

A
  1. Mild microcephaly
  2. Up slanting palpebral fissures
  3. Small nose with low nasal bridge
  4. Inner epicanthal folds
  5. Tongue appears prominent because of hypotonia- not actually larger
120
Q

hidden features of down syndrome

A 
40% of CHD
Skeletal abnormalities (atlanto-axial subluxation, hip problems)
66% hearing loss
Hypothyroidism
White Blood cell abnormalites
121
Q

White Blood cell abnormalites associated with down syndrome

A
  1. Susceptibility to infection

2. Increased risk of leukemia

122
Q

Anticipatory Guidance of DS (5)

A 
Mental deficiency (IQ ranges 25- 50)
Special programs
Support groups
Rapid response to infection
Infertility
123
Q

“Quad screen” maternal serum markers indicating increased risk

A
  1. Decreased alpha-fetoprotein (AFP)
  2. Increased Human gonadotropin (hCG)
  3. Decreased Unconjugated estriol (uE3)
  4. Increased Inhibin A

*Quad screen can detect 85%

124
Q

Prenatal Diagnosis of Down Syndrome

A
  1. Quad screen
  2. U/S (look for increased nuchal width)
  3. karyotyping via amniocentesis
125
Q

encouraged in moms over ___ y/o regardless of blood screen results to be karyotyped for DS

A

in moms over 35 y/o

126
Q 
Quad results of:
AFP: up
hCG: nl
uE3: nl
Inhibin: nl
A

neural tube defect

127
Q 
Quad results of:
AFP: down
hCG: up
uE3: down
Inhibin: up
A

Trisomy 21

128
Q

Quad results of:
AFP: down
hCG: down
uE3: down

A

Trisomy 18

129
Q

Simple Trisomy 21

A

all cells have 3 copies of chromosome 21

130
Q

Trisomy 21 Mosaic

A

x% of cells have 3 copies of 21, the others have 2

131
Q

Robertsonian Translocation

A

part of one chromosome becomes stuck on another one (3 copies)
* increases the risk of Down Syndrome in siblings

132
Q 
presents with:
 Short stature
Lack of secondary sex characteristics
Shield chest
Webbed neck
Wide carrying angle of arms
Normal intellect – problems with math
A

Turner’s syndrome

133
Q

how is turners syndrome transmitted

A

X-linked

X

134
Q

Unseen problems with Turner’s syndrome (3)

A
  1. Cardiac disease- coarctation of aorta, aortic valve anomalies
  2. Infertility/lack of sexual development
  3. Renal disease
135
Q

Deletion of a portion of chromosome

A

prader willi syndrome

136
Q 
presents with:
Severe hypotonia
Poor feeding at birth and then excessive appetite
Micropenis
Small hands and feet
Normal face
mild-moderate mental retardation
A

prader willi syndrome

137
Q

what medication is used to treat PWS

A

growth hormone helps curve appetite

138
Q

an example of imprinting

A

PWS

*get both copies from mother

139
Q

presents with:
Large head
Short stature
Bony abnormalities: curvatures of spine, short hands, abnormally formed pelvis

A

achondroplasia

140
Q

how is achondroplasia transmitted

A

autosomal dominant

141
Q

risks associated with achondroplasia

A
  1. Hydrocephalus (excess cerebrospinal fluid because of large head with small outlet to spinal cord)
  2. Respiratory problems caused by limited chest cavity
142
Q

you can reassure families with achondroplasia babies that:

A

babe will have:

  1. normal intelligences
  2. normal fertility
143
Q

Occur if both parents, though clinically normal, carry the same gene

A

autosomal recessive

144
Q

example of autosomal recessive disorders

A
  1. sickle cell disease
  2. cystic fibrosis
  3. Crigler-Naajar
145
Q

Gene for trait is carried by mother on the X chromosome and expressed in male children only

A

x-linked disease

146
Q

example of x-linked diseases

A
  1. hemophilia
  2. Duchenne’s muscular dystrophy
  3. red-green color-blindness
147
Q

Thalidomide can cause

A

phocomelia (flipper-like limbs)

148
Q

Presents with:
Typical facies
microcephaly

A

fetal alcohol syndrome

149
Q

facies of FAS (5)

A
  1. small eye openings
  2. flat midface
  3. upturned nose
  4. smooth philtum
  5. thin upper lip
150
Q

what to anticipate with FAS

A
  1. Developmental delay with IQ 50-80

2. Behavioral problems (leading to school, job, and relationship issues)

151
Q

THE BENEFITS OF DIAGNOSING SYNDROMES EARLY IN LIFE ARE:

A
  1. The ability to help families to anticipate the child’s special needs for the future in order to provide services that will maximize their potential.
  2. External features are clues to unapparent, and potentially serious physical problems
152
Q

Frequency of viral infections in fetus and newborn may be as much as ___% as compared to ____% for bacterial disease

A

6-8%

1-2%

153
Q

___ are more likely than ____ to cross the placenta and cause disease in fetus

A

viruses more likely than bacteria

154
Q

acquired in utero

Can result in malformations, fetal loss, prematurity, IUGR, neurological sequellae

A

congenital infections

155
Q

acquired at the time of birth

Wide variety of outcomes from asymptomatic disease to chronic disease or death

A

natal infection

156
Q

acquired during the neonatal period

A

Postnatal infection-

157
Q

the transfer of a disease, condition, or trait from one generation to the next either genetically or congenitally.

A

vertical transmission

158
Q

example of what kind of transmission?
Eg. Passing on an inherited trait such as sickle cell disease
Eg. Passing on an infection such as early onset GBS infection

A

vertical transmission

159
Q

the spread of an infectious agent from one individual to another, usually through contact with bodily excretions or fluids, such as sputum or blood, that contain the agent

A

horizontal transmission

160
Q

example of what kind of transmission?
Eg. Spreading the common cold or spreading avian flu
Eg. Infant developing late onset GBS sepsis from his mother.

A

horizontal transmission

161
Q

what happens when mom is infected

A
  1. her immune system first makes IgM (spike in IgM indicates current infection)
    * IgM does not cross placenta
  2. As the immune response continues, maternal antibody is primarily IgG
    * IgG does freely cross the placenta especially in 3rd trimester (persists for 4-6 months)
162
Q

Viral infections act as teratogens when they occur when?

A

during the 1st trimester

163
Q

effect of virus infection in 2nd trimester

A

baby gets both infection and immunity

*tend to do well bc have antibodies from mom

164
Q

effect of virus infection in 3rd trimester

A

baby can pick up infection without antibody- Mom does not have time to mount a response

165
Q

Viruses that cross the placenta are preceded by maternal viremia, then cause:

A
  1. Replication and infection of placenta
  2. Damage to vessels of placenta so it is “leaky”
  3. Infection of maternal leukocytes which sneak through inflamed placenta
166
Q

what does TORCH stand for

A 
Toxoplasmosis
“Other”- primarily syphilis
Rubella- aka “German measles”
Cytomegalovirus
Herpes
Hepatitis B and C
HIV
*There is no such thing as a “Torch Titer”- provider needs to consider each possible infection and order specific antibody titers separately
167
Q
  • Caused by an intracellular protozoan parasite
  • Most natural infections are acquired by ingesting undercooked meat containing tissue cysts or food contaminated by cat feces.
A

toxoplasmosis

168
Q

toxoplasmosis Infection in first trimester usually results in

A

fetal death or in baby with severe neurologic or ophthalmologic disease

169
Q

toxoplasmosis Infection in 2nd or 3rd trimester usually results in

A

cause mild or subclinical disease

170
Q

what is the host of toxoplasmosis

A

cats

*Rarely seen in Colorado because of arid climate- organism likes moisture

171
Q

Lives on farm in a humid climate, have a barn cat, changing litter

A

toxoplasmosis

172
Q

presents with:

  • CNS is prime target with calcifications*, hydrocephalus and cyst formation
  • Chorioretinits is common (decreased vision)
  • asymmetric IUGR
A

severe toxoplasmosis

173
Q

weight is less than 10 percentile

A

SGA

small gestational age

174
Q

in general, what type of IUGR is better

A

in general asymmetric is more healthy than a symmetric IUGR because it shows that the brain is still growing (small head indicates slowed brain growth)

175
Q

what study do you do to look for hydrocephalus in a newborn

A

head u/s

176
Q

Sexually transmitted infection caused by Treponema pallidum

A

syphilis

177
Q

4 stages of syphilis is adults

A
  1. Primary- ulcerative lesion on genitals, non-painful and easily missed
  2. Secondary- systemic illness with fever, sore throat, headache and diffuse rash
  3. Latent- treponemes present but without symptoms
  4. Tertiary syphilis (neurologic symptoms- dementia, neuropathy, Cardiac aneuryms)
178
Q

Baby more likely infected with shyphilis if mom is infected during what trimester

A

second or third trimester

*can do well during the 2nd trimester

179
Q

presents with:

  • May result in stillbirth, hydrops fetalis, prematurity, IUGR, microcephaly, blistering rash
  • Or, baby may be asymptomatic at birth, develop characteristic symptoms in first 3 months (Hepatomegaly, splenomagaly, skeletal and dental abnormalities, anemia, snuffles*)
A

congenital syphilis

180
Q

how do you treat congenital syphilis

A

penicillin

181
Q

Untreated congenital syphilis, will develop

A

neurosyphilis and bony changes

182
Q

Classic example of viral teratogen if infection occurs during the first 8 weeks of pregnancy

A

rubella

183
Q 
presents with:
Heart defects		         
Hearing loss
Cataracts			       
IUGR
Hepatosplenomegaly
Microcephaly (OFC
A

rubella

*these symptoms are malformations

184
Q

how do you screen for congenital syphilis

A

screen with RPR then do more a specific testing (antibody testing)

185
Q

Late infection with rubella; ie, in third trimester, causes

A

myocarditis- pathology of an already formed structure

*deformation

186
Q

consists of raised purplish bumps on the skin which reflect extramedulary hematopoiesis (in the skin)

A

blueberry muffin rash

*Formation of new blood cells outside of the bone marrow

187
Q

presents with blueberry muffin rash

A

congenital rubella
CMV
congenital leukemia, neuroblasoma
*any intrauterine condition in which there is severe anemia

188
Q

how is rubella prevented

A

MMR vaccine

*rate has continually declined, 92% of people in US are immune

189
Q

Most common cause of intrauterine infection in US most sources quote a rate of 1% of all neonates infected

A

cytomegalovirus (CMV)

190
Q

Mom is asymptomatic, as are most babes

A

CMV

191
Q

20-30% risk of fetal loss if occurs if CMV is caught during ___ trimester

A

first trimester

192
Q 
presents with:
Prematurity
Corioretinopathy
Hepatic failure
Abnormal liver function tests
Elevated direct bilirubin
“Microcephaly”, i.e., OFC (head circumference) less than 5%tile
A

CMV

*symptoms are most severe in 1st trimester

193
Q

the most common cause of congenitally-acquired sensoirneural hearing loss

A

CMV

  • accounts for 90%
  • *progressive and may present after newborn period
194
Q

long-term sequellae of CMV

A
  1. intracranial calcifiations
  2. hearing loss
  3. Cerebral palsy
  4. Seizures
  5. Cognitive impairment
  6. Dental defects
195
Q

how is CMV diagnosed

A
  • Urine specimen is best source for culture (though virus present in other body fluids also)
  • Blood tests available to look for CMV antigens
196
Q

how to treat CMV

A

Gancyclovir

*though it has side effects and is not well proven to be effective

197
Q

Viral infections acquired during time of delivery

A

HIV
Hepatitis B
Hepatitis C
Herpes Simplex virus

198
Q

Risk of transmission of HIV from untreated mom to baby is ___%

A

25%

199
Q

When can you start antiretrovial therapy if mom has HIV

A

right away based upon the resistance pattern (results from starting and stopping medication use)
*antiretrovial are NOT teratogenic to developing fetus

200
Q

how is mom treated for HIV during labor

A
  • baby of mom with high titers usually have cesarean and start AZT
  • baby of mom with low titers can deliver vaginally and are recommended but not required to begin AZT
201
Q

what is the recommendation of breastfeeding with a mom who has HIV

A

Until recently, these mothers were prohibited from breast feeding. Now, though discouraged, we are beginning to see this recommendation soften

202
Q

if you treat mom for HIV during pregnancy and follow recommendations, what is the risk of baby getting HIV

A

less than 1%

203
Q

what do you do when a mom with HIV delievers a baby

A

CONTACT CHIP PROGRAM AT TCH to arrange follow up

204
Q

can HIV be passed through breast feeding

A

yes
*In developing world, particularly Africa, better to continue to breast feed. The likelihood of newborn death due to diarrheal illness outweighs death due to HIV

205
Q

presents with:

  • Subacute illness with nonspecific symptoms
  • Clinical hepatitis with jaundice which is self-limited
  • Fatal fulminant hepatitis
  • Chronic hepatitis with persistence of hepatic inflammation and dysfunction for decades and predisposition for hepatocellular CA.
A

Hepatitis B (HBV)

206
Q

More than ___% of perinatally infected infants with HBC will develop chronic infection whereas only approximately ___% of infected adults do

A

90% of infants

10% of adults

207
Q

what part of prenatal labs screens for HBV

A

HBsAg

208
Q

Management of newborn born to MOC with positive serology of HBC and how effective is it?

A
  1. Immediate bath
  2. Hep B vaccine 0.5ml IM
  3. HBIG (Hepatitis B Immune Globulin) 0.5ml IM
    * Breastfeeding poses no threat to baby

**95% effective in preventing HBV infection in baby!

209
Q

does HVB get into breastmilk of mom?

A

yes

*can still breastfeed if mom is getting treated

210
Q

Signs and symptoms of hepatits C virus are

A

-indistinguishable from Hep B and Hep A

211
Q

Not part of routine prenatal screening

A 
Hep C (HCV)
*child/baby have a low chance of devloping chronic disease whereas adults have a high chance of developing chronic disease (opposite of HBV)
212
Q

Babies born to HCV+ mom should be tested for HCV

when?

A

18 months, when maternal antibody is no longer present

*if positive, treat with interferon and anitviral meds

213
Q

is HCV in breastmilk?

A

Virus has been detected in breast milk but has not been responsible for disease

214
Q

what type of HSV more commonly causes neonatal infection

A

HSV-2 more likely than HSV-1

215
Q

3 ways HSV can present:

A
  1. ) 1/3 disseminated disease involving multiple organs, esp. liver and lung
  2. ) 1/3 localized CNS disease
  3. ) 1/3 localized to skin, eyes and mouth

*Consider diagnosis in neonates with fever, irritability, abnormal CSF findings and seizures

216
Q

initial symptoms of HSV occur when

A

between birth and 3 weeks

217
Q

HSV within first week- overwhelming viral sepsis

A

disseminated disease

218
Q

HSV infection during 2nd week- mucocutaneous (lesions), milder disease

A

local infection

219
Q

HSV: Meningitis, during second or third week

A

CNS infection

220
Q

HSV is most often transmitted when

A

during birth through an infected maternal genital tract

*Occasionally an ascending infection through apparently intact membranes

221
Q

HSV risks to babe

A
  • 33-50% if mom’s primary infection

- 5% if result of reactivation shedding

222
Q

Cesarean delivery may decrease the risk to baby if performed when

A

within 4 to 6 hrs of membrane rupture and supressive thearpy is indicated

  • Many OBs elect to perform C/S whenever active lesions are present (no need for c/s if no active lesions present)
  • Avoid use of fetal scalp electrode as this is a common site for introduction of infection
223
Q

Care of Newborn at risk for HSV because of maternal lesions

A
  1. isolation
  2. culture of urine, stool, mouth, nasopharynx, and rectum
  3. Treatment (use acyclovir if has any symptoms)
224
Q

Fifth disease

A

Parvovirus B19

225
Q

Causes mild, self-limited illness with typical rash in young children- “slapped cheeks” and lacy rash on extensor surfaces of joints
*cause bone marrow suppression

A

Fifth disease

  • Contagious before rash appears and not when rash appears
  • can last up to 6 weeks
226
Q

Exposure of fifth disease in pregnant woman in first trimester carries ____ risk of miscarriage

A

low risk

*risk of aplastic crisis in those predisposed, especially patients with sickle cell disease or anemic

227
Q

disease typical in preschool children

A

Parvovirus B19 (aka Fifth disease)

228
Q

Caused by Herpes Varicella Zoster virus

A

varicella

aka chicken pox

229
Q

presents with:
characterized by fever, puritic rash
potential for pneumonia, encephalitis

A

varicella

*lesions are all at different stages (small pox lesions are all at same stage)

230
Q

recurrence of varicella lesion is known as

A

shingles or zoster

231
Q

Painful, puritic lesions found along a dermatome in particularly in patients who are immunocompromised

A

shingles

*now have shingle vaccine for people older than 60 y/o

232
Q

Effects of Herpes Varicella Zoster Virus on Fetus and Newborn in first trimester

A

varicella embryopathy- limb atrophy, CNS, eye manifestations (malformations)

233
Q

Effects of Herpes Varicella Zoster Virus on Fetus and Newborn in second trimester

A

unapparent infection, may set patient up to develop shingles without having chicken pox first

234
Q

when can varicella infection be fatal

A

infection occurring 5 days before to 2 days after birth

235
Q

Effects of Herpes Varicella Zoster Virus on Fetus and Newborn in third trimester

A

no problem if before 5 days bc maternal antibodies

236
Q 
sx:
watery eye (worse w/ colds)
clear conjuctiva
mucus can trap bacteria causing associated conjunctiviits 
otherwise healthy
A

Dacrostenosis

aka Goopy eye

**not infected by predisoses to infection

237
Q

what is dacrostenosis associated w/

A
  • Congenital obstruction of the nasolacrimal duct causing tears to drain out of the eye, onto the face
  • Associated with mucoid discharge from the lacrimal punctum
238
Q

when does dacrostenosis become sympotomatic and how common is it

A

Present at birth. Becomes symptomatic in later half of first week of life

Very common. Occurs in 6% of newborns
-30% of affected newborns will have bilateral
involvement

239
Q

tx of dactrostenosis

A

-90% resolves on its own in 1st yr of life
-Massage duct has traditionally been recommended (Utility is
questionable)
-keep eye clean w/ warm wet washcloth

*if not resolved by 12 months consult opthalmologist for probing

240
Q

Infection of the obstructed nasolacrimal duct

A

dacrocystitis

241
Q

tx of dacrocystits

A

antibiotics

possible surgical opening of the duct

242
Q

sx:
redness of conjunctivae
crusting of eyes

A

conjuctivitis

*caused by Strep/staph/STIs

243
Q

sx:
cellulitis of skin surrounding eye (warm to touch, pussy discharge)
-eye pain
concerning can spread to behind the eye to optic nerve and can lead to blindness and direct route to brain so look for meningitis

A

periorbital cellulitis

244
Q

sx:
red eye
eye pain
really watery

A

corneal abresion

245
Q

Surgical removal of the foreskin of the penis to expose all or part of the glans for therapeutic, prophylactic, ritual or religious reasons

A

circumcision

*procedural analgesia should be provided

246
Q

AAP recommendation for circumcision

A

-circumcision has potenital health benefits however, not required in all children routinely bc risks can be reduced with good hyigene and safe sex

**ALL parents should be educated on the risks and benefits in an unbiased way

247
Q

Best reason for not circumsizing

A

not medially necessary, unnecessary procedure (as long as the male has good hygiene and has safe sex practices)

inaccurate studies showing loss of sexual pleasure or decreased ability to express emotion

248
Q

benefits of circumcision

A
  1. easier hygiene
  2. Decreased risk of Penile Cancer- very low prevalence, so not compelling
  3. decreased bacterial colonization (10 fold reduction in UTIs in boys during first 2 yrs of life)
  4. decreased skin infections (leads to decreased phimosis)
  5. decreased risk of STIs
249
Q

infection of the foreskin and glans

  • causes pain and discharge
A

ballanitis

250
Q

unretractable foreskin

A

phimosis

251
Q

recurrent balanitis can lead to

A

phimosis

252
Q

Retraction of a phimosis can result in

A

paraphimosis

an emergency situation- foreskin gets stuck behind the glans and acts as a tourniquet

253
Q

what STIs are reduced by circumcision

A
  1. Decrease in HPV and HSV in men and their partners (HPV implicates cervical CA)
  2. 40-60% against HIV**
  3. Probably against syphilis

**more protective if performed before puberty and onset of sexual activity and only in heterosexual males

254
Q

why does circumcision protect against HIV so much?

A
  1. Mucosal surface of foreskin is subject to tears and abrasions
  2. Mucosal surface has a high concentration of Tcells and Langerhans cells which are specific targets for H.I.V.
  3. Creates an ideal environment of moisture and entrapment for organisms
255
Q

circumcision techniques

A

Plastibel
Gomco
Mogen

  • All rely on crushing of tissue and removal of excess skin
  • All safe in experienced hands (2% complication risk- bleeding, infection, injury, cosmetically unpleasing)
256
Q

what religions require circumcision

A

Jewish - day 8
Muslim

*Most people make decision based on personal, religious or social reasons

257
Q

describe the plastibel technique

A
  • put plastic ring, pull skin back up, where circumcision occurs
  • cut off extra foreskin
  • left over skin turns black and necrosis like umbillical cord
  • ring string falls off around 1 week
258
Q

describe Gomco technique

A
  • put a cap on the glans
  • clamp the foreskin and cut
  • doesnt leave anything on the penis
259
Q

describe the Mogen technique

A
  • clamp foreskin
  • cut foreskin with scapel (blind cutting)
  • *Fastest method
260
Q

Rules for circumcision:

A
  • Have to have peed in life
  • Need to have Vit. K injection
  • Normal feeding patterns (bc procedure is stressful for baby so may sleep and not eat much after)
261
Q

what IS RESPONSIBLE FOR MORE INFANT DEATHS IN
THE UNITED STATES THAN ANY OTHER CAUSE OF DEATH DURING
INFANCY BEYOND THE NEONATAL PERIOD.

A

SIDS (sudden infant death syndrome)

**death of unknown cause before 12 months

262
Q

The sudden death of an infant under 1 year of age, which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of
the death scene, and review of the clinical history.

A

SIDS

*90% before 6 months of age

after 12 months would be an unexplained death not SIDS

263
Q

risk factors for SIDS

A
  1. Prone sleep position
  2. Sleeping on a soft surface
  3. Maternal smoking/drug use during pregnancy or second hand smoke
  4. Overheating
  5. Late or no prenatal care
  6. Young maternal age
  7. Preterm birth and/or low birth weight
  8. Male gender
  9. Black or NA (2-3x higher incidence)
264
Q

what has reduced the incidence of SIDS (9)

A
  1. sleeping baby on back (50% reduction)
  2. use firm surface (don’t use car seat or swing bc it compresses throat)
  3. don’t sleep in same bed as parent but DO sleep in same room
  4. breastfeed
  5. offer pacifer at nap/bedtime
  6. don’t use soft objects/pillows/blankets in bed
  7. dont use wedges
  8. don’t smoke
  9. don’t over heat
265
Q

successful steps for breastfeeding success

A
  1. Help mothers initiate breastfeeding within 30min of birth
  2. Show mothers how to breastfeed, and how to maintain lactation even if they should be separated from their infants
  3. Give newborn infants no food or drink other than breast milk, unless medically indicated
  4. ractise rooming-in - that is, allow mothers and infants to remain together - 24 hours a day
  5. Give no artificial teats or pacifiers (also called dummies or soothers) to breastfeeding infants***** until BF is established
266
Q

pacifier safety

A
  1. use 1 solid piece (dont use nipple from bottle)
  2. The shield between the nipple and the ring should be at least 1-1⁄2 inches (3.8 cm) across
  3. Never tie a pacifier to your child’s crib or around your child’s neck or hand
  4. clean and inspect for deterioration
267
Q

what is the recommendation for rear facing car seats and convertible care safety

A

until they are at least 1 year of age and weigh at least 20lb (semireclined in convertible) to decrease the risk of cervical spine injury

*A.A.P. now even recommends rear-facing until 2 years if tolerated

268
Q

what is the recommendation for forward facing car seats

A

4 yrs or 40lbs

*can be used as long as child fits well- tops of ears below the top of the car safety seat back and shoulders below the seat strap slots

269
Q

Belt-positioning booster seats for

A

most children through 8 years of age or 4’9”

*Lap-and-shoulder seat belts for all who have outgrown booster seats

270
Q

when can children sit in front seat

A

13 y/o

271
Q

umbilical could contain

A

2 arteries and 1 vein

  • “2 vessel cord” associated with other anomalies
272
Q

when is umbilical clamping recommending

A

delayed clamping
Current trend is to wait 30 seconds to a few minutes, to give baby a bit more blood (can prevent anemia especially in premature babies)

273
Q

cord care

A
  1. wash cord when baby gets first bath, then allow to air dry–> Do not put baby into a bath tub until after cord falls off, usually 2 to 3 weeks
  2. keep diaper fold under cord to keep dry
  3. use dry care at home (allow it fall off on its own)

*There will often be a few drops of blood from the cord for a day or two prior to its falling off

274
Q

infection of umbilical stump

A

omphalitis

275
Q

a small red mass of scar tissue that stays on the belly button after the umbilical cord has fallen off.

A

umbilical granuloma

  • will drain a light-yellowish fluid
  • usually self-limited, but healing can be hastened with the application of silver nitrate, a form of chemical cautery
276
Q

umbilical hernia is a ___ hernia

A

ventral hernia

  • intestine protrudes through defect in abdominal wall left by the umbilical cord (most noticable when baby is crying)
  • should be soft and able to push back in
277
Q

tx of umbilical hernia

A

Generally resolves without treatment.

  • Surgery only if persists beyond 4 years
278
Q

sx:
redness around the cord, thick discharge, foul smell, hot to touch, painful, other vitals abnormal (fever), fussiness
direct line back to vena cava–> can can peritoniti

A

omphalitis

*tx requires full septic workup

279
Q

breeched head appears

A

flat at top

cone on back

280
Q

head molding form delivery appears

A

cone shaped

*improves in 1-2 days
coning is worse in mom who pushed for a long period of time

281
Q

what spaces can collect with fluid as a result of birth trauma

A
  1. caput succadaneum
  2. cephalohematoma
  3. subgaleal hematoma
  4. epidural hematoma
282
Q

Collection of edema fluid in scalp.

-Results from banging of baby’s head on mom’s pelvis

A

caput succedaneum

*Resolves in 1 to 2 days
completely benign

283
Q

edema that crosses suture lines

A

caput succedaneum

284
Q

Collection of blood beneath the periostium which surrounds the bones of the skull (usually parietal)

  • Limited by suture lines
  • Results from pounding head on mom’s pelvis during labor
A

cephalohematoma

  • Risk of developing jaundice as pool of blood is broken down
  • Resolves over days to weeks
285
Q

Bleeding into large potential space between the scalp and skull
dependent with gravity***
-Result of shearing forces from vacuum or suction tearing bridging vessels

A

subgaleal hemorrhage

  • Can be quite dangerous as a large volume of blood can be lost, causing shock, anemia
  • ALL require phototherapy
286
Q

when baby’s shoulder gets stuck during delivery

A

shoulder dystocia

287
Q

shoulder dystocia can lead to

A

erb’s palsy

fractures

288
Q
  • Stretch injury of brachial plexus
  • Causes characteristic “waiter’s tip” flaccid position of arm
  • might have grasp reflex and nothing else
A

Erb’s palsy

*Resolves distally to proximally over course of days to weeks
(should resolve completely by 3 months- if no improvement in 1 week then get into ortho and PT)

289
Q

what bones are most commonly fractured during birth

A
  1. clavicle
  2. humerous
  3. skull (associated w/ forceps)

*Multiple fractures or fractures of other bones would lead one to consider diagnosis of osteogenesis imperfecta

Neonate (4 decks)

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