Congenital disorders Flashcards
1
Q
How may congenital infections occur?
A
- during pregnancy, labor and delivery
- transmission: through placenta, amniotic fluid, vaginal canal
- prevention with prenatal care of mom is key!!
2
Q
How do first trimester infections affect the fetus?
A
- affect virtually any of the developing organ systems
- find symmetrically growth restricted infants
3
Q
Presentations of congenital infections?
A
- growth retardation
- premature delivery
- CNS abnormalities: microcephaly, intracranial calcifications, chorioretinitis, hydrocephaly
- hepatosplenomegaly: can have accompanying jaundice
- bruising or petechiae: thrombocytopenia, hemolytic anemia
- skin lesions
- pneumonitis
4
Q
What does TORCH stand for?
A
- T: toxoplasmosis
- O: other - syphilis, HIV, parvovirus B-19, varicella, hepatitis, enterovirus
- R: rubella
- C: cytomegalovirus
- H: herpes simplex
5
Q
Source of Toxo? Maternal sxs, and neonate sxs?
A
- Toxoplasma gondii, found in cat feces, raw or undercooked meat, contaminated soil or water
- maternal sxs: nonspecific, such as fatigue, fever, HA, malaise, and myalgia
- sxs in neonates: fever, maculopapular rash, hepatosplenomegaly, microcephaly, seizures, jaundice, thrombocytopenia (petechiae), and rarely, generalized lymphadenopathy
6
Q
Classic triad signs of congenital toxo?
A
- chorioretinitis
- hydrocephalus
- intracranial calcifications
7
Q
Primary focus of toxo infection in neonate?
long term complications?
A
- CNS:
necrotic, calcified cystic lesions dispersed within the brain (can find similar lesions in liver, lungs, heart, skeletal muscle, and spleen) - long term complications: seizures, mental retardation, spasticity, relapsing chorioretinitis
8
Q
Dx Toxo? Tx?
A
- 85% are asx
- IgM anti-toxoplasma ab at 20-26 weeks (mother)
- isolation of parasite in fetal blood or amniotic fluid
- postnatal: IgM abs in serum
- prenatal US: symmetric ventricular dilation, intracranial calcifications, increased placental thickness, hepatosplenomegaly, ascites
- labs: may show anemia, thrombocytopenia, eosinophilia, abnormal CSF
- tx: pyrimethamine and sulfadiazine or Spiramycin
9
Q
HIV transfer?
A
- educate and address mother’s infection, lower viral load = lower chance of transfer
10
Q
Enterovirus?
A
- usually acquired around time of birth, good prognosis
11
Q
Parvovirus B-19?
A
- possible fetal hemolytic crisis assoc
12
Q
Varicella?
A
- perinatal exposure can be very severe, immune globulin given if suspected
13
Q
Hepatitis?
A
- type B, HBIG and vaccine if mom + - give to baby at time of birth
14
Q
Syphilis transmission?
A
organism: Treponema pallidum
- if mom in primary or secondary stage transmission is nearly 100%
15
Q
Syphilis infection can result in what?
A
- stillbirth
- Hydrops fetalis (fluid overload)
- prematurity and assoc long term morbidity
- hepatomegaly
- edema
- thrombocytopenia
- anemia
- skeletal abnormalities, saddle nose deformity
- rash: maculopapular, vesicular
16
Q
When does transmission of syphilis occur?
- early sxs?
A
- transplacental infection generally occurs in 2nd half of pregnancy
- if mother has primary or secondray infection there is high risk of transmision to fetus
- half of infected infants are sx
- early sxs:
hepatosplenomegaly, skin rash, anemia, jaundice, metaphyseal dystrophy, periostitis, CSF with increased protein and PMNs
17
Q
Congenital syphilis manifestations in infancy and childhood?
A
congenital syphilis can result in:
- late abortion or stillbirth
- infantile: rash, osteochondritis, periostitis, liver and lung fibrosis
-childhood: interstitial keratitis, hutchinson teeth, 8th nerve deafness
18
Q
Sxs of syphilis? Dx, and Tx?
A
- may be asx, may develop sxs weeks or months later
- snuffles: nasal obstruction, initially clear d/c then purulent or sanguineous d/c
- Dx: IgM FTA-ABS (fluorescent treponemal ab absorption) in newborn blood: not always + at first, recheck in 3-4 weeks
- Tx: PCN G
- monitor for vision changes, hearing, developmental abnormalities
19
Q
How common is Rubella in US? When is it the most transmissable?
A
- rare in US due to immunizations, 0.5/1000 live births
- in adults causes mild self limited illness
- high maternal to fetal transmission rate if infected in first trimester
20
Q
Clinical manifestations of congenital rubella?
A
- deafness, cataracts, glaucoma, strabismus, nystagmus, cardiac malformations (PDA, pulmonary artery hypoplasia), and neuro and endocrinologic sequelae
- growth retardation (SGA), radiolucent bone disease, hepatosplenomegaly, thrombocytopenia, purpuric skin lesions (Blueberry muffin lesions that represent extramedullary hematopoiesis), hyperbilirubinemia
21
Q
Dx Rubella? Long term complications?
A
- increased anti-rubella IgM titer in perinatal period
- increased anti-rubella IgG titer in the 1st few years of life
- isolate virus from throat swab, CSF or urine
- long term complications:
communication disorders, hearing defects, mental or motor retardation, microcephaly, learning deficits, balance and gait disturbances, behavioral problems - tx: prevention with vaccination, if immunocompromised baby - may try ganciclovir
22
Q
How common is CMV? How is it transmitted? Are sxs usually present?
A
- most common congenital viral infection
- virus is ubiquitous
- transmitted by saliva, urine or bodily fluids
- can be transmitted to fetus even if maternal infection occurred prior to conception secondary to virus reactivation
- if transmitted from a newly acquired maternal infection then increased severity of infection and worse prognosis
- 40,000 infants born with CMV in US yearly
- 5-20% are sx:
30% mortality rate, 80% neurologic
23
Q
Sxs of CMV?
A
- leading cause of SNHL, mental retardation, retinal disease, and cerebral palsy
- SGA, microcephaly, thrombocytopenia (petechiae, purpura), hepatosplenomegaly, hepatitis, intracranial calcifications
24
Q
Herpes Simplex - transmission? Tx and prevention?
A
- most commonly acquired at time of birth during transit through infected birth canal
- transmission more likely if primary outbreak
- C-section often performed to prevent transmission
- tx acyclovir
- mortality rate high (encephalitis)
25
Q
HSV transmission rates?
A
Primary genital herpes in mother with vaginal delivery transmission rate about 33-50%
- mother with reactivated infection transmission rate is 5%
- more than 75% of infants who acquire HSV infection are born to mothers with no previous hx or clinical findings consistent with HSV infection
26
Q
Sxs of neonatal HSV? Tx
A
- disseminated disease: sepsis, liver (elevated liver enzymes), lungs
- localized: CNS (seizures, encephalopathy), skin, eyes, mouth
- tx: acyclovir
27
Q
Clincal manifestations of congenital varicella?
A
- cutaneous scars
- cataracts
- chorioretinitis
- micropthalmos
- nystagmus
- hypoplastic limbs
- cortical atrophy
- seizures
28
Q
Workup for perinatal infections?
A
- review maternal hx
- assessment of physical stigmata consistent with various intrauterine infections
- CBC, LFTs,
- long bone X-rays
- ophthalmologic eval
- audiologic eval
- neuroimaging - U/S
- LP
29
Q
What infections are asx at birth?
A
- toxo
- syphilis
- CMV
- HSV
30
Q
Which infections cause deafness at birth and later on?
A
- CMV (SNHL), rubella
31
Q
What infections can be assoc with thrombocytopenia and purpura or petechiae?
A
- Rubella, CMV, syphilis, toxoplasmosis
32
Q
Which infection has elevated LFTs?
A
- HSV
33
Q
Which infections cause chorioretinitis and possible blindness?
A
- congenital varicella
- HSV
- CMV
- Rubella
- toxoplasmosis (chorioretinitis)
34
Q
Maternal conditions that may cause birth defects?
A
- med use
- metabolic disorders
- substance abuse
- mechanical forces
- toxins
35
Q
Teratogens - medications?
A
- ACEI
- anticonvulsants
- antineoplastic agents
- thalidomide, retinoic acid, methylene blue
- misoprostol, penicillamine, fluconazole
- lithium, isotrentinoin, acitrentin
- tetracycline, sulfa meds
36
Q
Maternal medical disorders that can cause birth defects?
A
- diabetes: LGA, hypoglycemia
- PKU: delayed growth, developmental delay
- Androgen producing tumors of adrenal glands or ovaries
- SLE: ANAs, miscarriages
- obesity: gestational diabetes, HTN, pre-term labor, babies - overweight
- fever: over 103 - cause baby to be stillborn
- HTN: SGA
- hypothyroidism: if not tx - developmental delays, premature birth, respiratory distress
37
Q
Maternal substance use/abuse?
A
- alcohol
- ilicit drugs
- inhaling paints, solvents
- tobacco
- caffeine (a little is ok)
38
Q
features assoc with FAS?
A
- skin folds at corner of eye
- low nasal bridge
- short nose
- indistinct philtrum
- small head circumference
- small eye opening
- small midface
- thin upper lip
- dislocated joints, aberrant palmar creases
- low IQ
- SGA
- learning and behavioral difficulties
- facial dysmorphism
39
Q
Mechanical forces that may cause congenital defects?
A
- amniotic bands
- too much or too little amniotic fluid - restrict growth
- position of fetus
- uterine fibroids
- placental issues: infarction, detachment
40
Q
Maternal toxins?
A
- mercury
- Lead
- ionizing radiation
- CO
- poor nutrition
41
Q
What is VSD?
A
- 25% of all congenital heart defects
- opening b/t R and L ventricles
- some close spontaneously, others need patching
- degree of sxs correlates with size of the shunt
42
Q
Sxs of VSD?
A
- fatigue
- diaphoresis with feedings
- poor growth
- pansystolic murmur***
- may not be sx at birth due to normally elevated pulmonary vascular resistance but as PAP decreases, the amt of L to R shunt increases
43
Q
What is ASD?
A
- hole b/t the 2 atria
- blood flows from L to R
- can be caused by PFO
- R heart becomes dilated
44
Q
Sxs of ASDs?
A
- infants and children are rarely sx with ASDs
- soft systolic ejection murmur
- fixed split S2
- larger shunts need to be closed if still present around 3 yrs of age
45
Q
What is a PDA?
A
- ductus arteriosus allows blood to flow from PA to AO during fetal life
- this vessel normally closes within first 24 hrs after birth
- failure to close results in a PDA
- going to have a widened pulse pressure
- continuous machine like murmur that can be heard over left side of back as well
- closure with prostaglandin inhibitors such as indomethacin or with catheter based methods by coiling or using a closure device
46
Q
RFs for PDA?
A
- prematurity
- other heart defects
- high altitudes over 10,000 ft
- relative hypoxia (causing increased pulmonary vascular resistance)
- maternal rubella infection
47
Q
COA is often assoc with what other congenital heart abnormalities?
A
- hypoplastic aortic arch, abnormal aortic valve and VSD
- occurs where ductus arteriosis inserts into the aorta
48
Q
Sxs and tx of COA?
A
- poor feeding
- respiratory distress
- shock
- femoral pulses weak compared to radial or brachial pulses
- older kids may have lower extremity claudication
- systolic murmur best heard on L upper back
- tx: try to keep ductus arteriosus open until surgery
49
Q
What is tetralogy of fallot?
A
- combo of VSD, pulm stenosis, overriding aorta, right ventricular hypertrophy
- R to L shunt
- cyanosis varies depending on size of shunt
- surgical repair at about 6 months
50
Q
TOF sxs?
A
- loud, harsh systolic ejection murmur
- hypoxia
- cyanosis
- sxs worsen after PDA closes
- tachypnea
- tet spells: cyanosis worsens with crying, toddlers will squat to relieve sxs, may have syncope, hemiparesis, seizures or death may occur
51
Q
Cornerstone test for workup of congenital heart disease?
A
- Echo or pre-natal US
52
Q
What is cyantoic congenital heart disease?
A
- R to L shunt
- 5 Ts of cyanotic congenital heart disease:
TOF
transposition of great arteries
tricuspid atresia
truncus arteriosus
total anomalous pulm venous return
53
Q
- Acyanotic congenital heart disease types?
A
- PDA
- VSD
- ASD
- obstructive lesions: aortic stenosis, pulmonary stenosis, COA
54
Q
Eval of cyanotic newborn?
A
- central cyanosis is indicative of a significant underlying condition
- cardiopulmonary disease is the most common:
Respiratory distress syndrome
sepsis
cyanotic heart disease
55
Q
Workup of cyanotic newborn?
A
- CXR
- CBC, CMP: blood glucose
- ABGs
- blood cultures
- echo
- involve your supervising physician early and refer
56
Q
Numerical autosomal abnormalities?
A
- down syndrome (Trisomy 21)
- Trisomy 13
57
Q
x’somal deletion disorders?
A
- deletion 22q11 syndrome
58
Q
Numeric sex x’somal disorders?
A
- turner syndrome XO
- Klinefelter syndrome XXY
59
Q
How common is Down syndrome? What is it assoc with?
A
- most common abnormality of x’somal number 1:800
- assoc with developmental and medical comorbidities
- increased risk when maternal age is greater than 35
60
Q
Characteristics of Down syndrome?
A
- normal size baby
- hypotonic
- brachycephaly
- flattened occiput
- hypoplastic midface
- flattened nasal bridge
- upslanting palpebral fissures
- epicanthal folds
- large protruding tongue
- short broad hands
- transverse palmar crease
- wide gap b/t 1st and 2nd toes
61
Q
Medical problems assoc with Down syndrome?
A
- 40% congenital heart defects
- 10% GI tract abnormalities
- 1% hypothyroidism
- increased risk of leukemia (20x)
- increased risk of infection
- increased risk of cataracts
- 10% have alantoaxial instability = predispose to spinal cord injury
- over 35 - may develop alzheimers like features
62
Q
Most constant characteristic of Down syndrome?
A
- mental retardation with IQs mostly b/t 40-50
- goal is to help these children develop to their full potential (PT, OT, ST)
- differing degrees of disability
63
Q
Down syndrome screening and management?
A
- growth (have specific growth chart) - will be slower at reaching developmental milestones
- sleep - sleep apnea
- thyroid screening in newborns
- hearing screening
- vision screening
- echo
- CBC
- support with OT, ST, PT
64
Q
What is Trisomy 13?
A
- multipe dysmorphic features and complications
- most die of heart failure or infection in infancy or by 2nd year of life, marked developmental retardation
65
Q
What is Deletion 22q11 syndrome?
A
- assoc with variety of syndromes:
velocardiofacial syndrome, conotruncal anomaly facial syndrome, Shprintzen syndrome, DiGeorge syndrome, CATCH 22 - most of them have congenital heart disease and cleft palate
- can affect virtually all body systems
66
Q
Manifestations of Deletion 22q11 syndrome?
A
- hypoplasia of thymus and/or parathyroid gland
- conotruncal cardiac defects
- facial dysmorphism
- clinical manifestations may include neonatal hypocalcemia, increased infections, as well as predisposition to autoimmune diseases later in life
- mild to moderate learning difficulties are common
67
Q
Incidence of Turner Syndrome? Comorbidity risks?
A
- XO
- 1:10000 females
- maternal age at birth is often advanced
comorbidity risks:
-renal anomalies (40%)
-congenital heart defect (coarctation - 20%)
-autoimmune thyroiditis is common
68
Q
Dysmorphic features of Turner syndrome
A
- lymphedema (hands and feet)
- webbing of neck
- short stature
- mult pigmented nevi
- gonadal dysgenesis: ovaries fail to respond to gonadotroponin stim ( amenorrhea at puberty and failure of development of secondary sexual characteristics
69
Q
Turner syndrome tx? What can occur as these women get older?
A
- estrogen replacement therapy
- growth hormone therapy can be used to increase ht
- hearing loss, hypothyroidism, and liver fxn abnormalities can occur as these women get older
70
Q
What is Klinefelter syndrome?
When is it detected usually?
A
- XXY
- most common congenital abnormality causing hypogonadism
- other than thin build and long arms, prepubertal boys have normal phenotype
- incidence approx 1:500 live male births
- often not detected until about 15 or 16 when the testes remain small and they lack secondary sexual characteristics
71
Q
Dymorphic features of Klinefelter syndrome?
A
- taller stature/wider arm span
- small testes/decreased testosterone/decreased spermatogenesis
- incomplete masculinization/ decreasd body hair
- female habitus/gynecomastia
72
Q
Clinical features of Klinefelter’s?
Tx?
A
- immaturity
- normal to borderline low IQ, some variations manifest severe mental retardation
- behavioral problems
- tx:
testosterone, replacement therapy
73
Q
What is fragile X syndrome?
A
- 1:4000 males, 1:8000 females
- mutation of DNA that codes for protein helps plays a role in development of synapses
- mental retardation, oblong face with large testicles, autistic like behavior
74
Q
What is cause of Marfan’s syndrome?
A
- caused by mutation in FBN1 gene that determine the structure of fibrillin
- fibrillin is a protein that is impt part of connective tissue and elastic fibers which affect multiple parts of body such as bones, joints, eyes, blood vessels, and heart
75
Q
Who is likely to have marfan’s?
A
- inherited disease and can affect men and women of any race or origin
- there are some very serious cases but most are mild
- 1 in 10 affected cases are serious
- Abe was suspected of having this disease
76
Q
Frequency of Marfans?
A
- about 200,000 people in US have marfan syndrome
- each child of a person who has marfans has 50% chance of inheriting the disease
- 2 unaffected parents have only 1 in 10000 chance of having child with Marfans
- about 25% of all marfan cases are due to spontaneous mutation at time of conception
77
Q
Marfan sxs?
A
- muscle weakness of legs
- increased risk of hernia
- increased risk of spontaneous pneumothorax
- lens dislocation
- AAA
- vascular dissection
- flat feet
- scoliosis
- long and skinny fingers and toes
- pectus excavatum
- arachnodactyly
- stretch marks
- loose/hyperflexible jts
- tall, thin stature
78
Q
Leading cause of death of Marfans?
A
- AAA
79
Q
Dx Marfans?
A
- AAA and ectopia lentis (dislocated lenses) are cardinal features
- clinical signs typical of dx
- genetic testing
80
Q
Tx of Marfans?
A
- BBs: decrease stres along vascular walls
- losartan - ARB
- control of sxs from valvular disease
- there is no cure for Marfans but there are some txs to help improve quality of life
81
Q
Life expectancy of marfans?
A
- now about that of average person, this has grown b/c there is currently better tx and dx
82
Q
What is PKU? Clinical presentation?
A
- most common AA metabolism disorder, 1:12000 births
- decreased activity of phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine
- clincal presentation:
- asx in early infancy
- hypopigmentation
- neuro manifestations: tremors, hypertonicity, behavioral disorders, seizures
- severe mental retardation
83
Q
Management of PKU?
A
- when tx early will be normal physically and developmentally
- dietary restrictions: diet for life
- especially impt during pregnancy if woman has PKU
- restriction of foods high in Phenylalanine: red meat, chicken, fish, eggs, nuts, cheese, legumes, milk and other dairy products
- infants may be breastfed
- avoid aspartame
- supplementation of tyrosine and other nutrients that may be deficient
84
Q
What is Galactosemia? Clinical presentation?
A
- autosomal recessive disorder
- deficiency of galactose 1 phosphate uridyltransferase leading to buildup of unmetabolized galactose
- clinical presentation:
appears within days to weeks of birth - hepatomegaly
- vomiting, anorexia
- growth failure (FTT)
- aminoaciduria
85
Q
Tx of Galactosemia?
A
- eliminate galactose from diet (if tx early - excellent prognosis) - soy based formula
- prognosis: untx - death, mental and or growth retardation, cataracts
86
Q
Neural tube defects incidence? 2 diff types? Dx? Prevention?
A
- this is why you do spine exam in newborns - manifest in diff ways
- failure of neural groove to fuse completely
- 1-2 in 1000 births
- Risk factors: maternal age (teenage and older women), maternal health (meds, diabetes, nutrition)
- 2 major types:
anencephaly (no cranium), meningomyelocele (spina bifida) - distal to brain - dx: prenatally - elevated alpha-fetoprotein
- prevention: prenatal (antenatal) folic acid supplementation
87
Q
Orofacial clefts incidence?
A
- cleft lip with/without cleft palate
- incidence: 1-2/1000 births
- 2:1 male-female ratio
- highest incidence in Asian and Native American pops
- isolated cleft palate: increased incidence of other congenital abnormalities - congenital heart disease
88
Q
What is cerebral palsy?
A
- static encephalopathy (won’t improve)
- encephalopathy: brain injury that is non-progressive disorder of posture and movement
- variable etiologies
- often assoc with epilepsy, speech problems, vision compromise, and cognitive dysfxn
89
Q
Prevalence of cerebral palsy?
A
- 2.5/1000 births
- during past 3 decades considerable advances made in obstetric and neonatal care, but no change in incident of CP
90
Q
Etiology of CP?
A
- prenatal: infection, anoxia, toxic, vascular, Rh disease, genetic, congenital malformation of brain
- natal: anoxia, traumatic delivery, metabolic
- postnatal: trauma, infection, stroke
91
Q
Clinical features of CP?
A
- muscle spasticity
- dyskinesia: defect in ability to perform voluntary movement
- ataxia: defective muscle coordination, especially manifested when voluntary movements attempted
- epilepsy
- mental retardation
- learning disabilities
- behavior problems
- strabismus
92
Q
When is CP usually dx?
A
- in first 18 months of life when they fail to meet developmental motor milestones
93
Q
Complications of CP?
A
- spasticity
- weakness
- increased reflexes
- clonus
- seizures
- articulation and swallowing difficulty
- visual compromise
- deformation
- hip dislocation
- kyphoscoliosis
- constipation
- UTI
94
Q
Management of CP?
A
- refer to neuro and possible physical medicine and rehab physician
- OT and PT
- speech
- adaptive equipment
95
Q
Screening for neonatal congenital disorders?
A
- complete medical, surgical, social, family hx
- amniocentesis
- quad screen (maternal blood sample) and fetal U/S
- newborn disease screening
- TORCH screening
