Congenital Disorders - Exam 1 Flashcards
What is neonatal abstinence syndrome? What does the babies symptoms depend on?
Neonate has intrauterine exposure to substance
Depends on drug, length of use, amount used , use close to delivery , etc)
_____ of pregnant opioid-using women reported their pregnancy was unintended
86%
T/F: NAS is only related to harmful substances such a tobacco and illicit drugs
FALSE!!
includes tobacco and prescription drugs such a SSRIs, anticonvulsants and retinoids
When should you assess mom for maternal substance abuse?
Initial presentation at first prenatal visit ideal with repeat screening at every trimester and periodically
What are some s/s of babies who are born to mother who take anticonvulsants?
Small head circumference
Anteverted nares
Cleft lip / palate
Distal digital hypoplasia - specifically with phenytoin (Dilantin)
Spina bifida - specifically with valproic acid
What are s/s of babies who were born to mother currently taking retinoids? **What is the important one to remember?
CNS malformations, congenital heart defects, TEF
small or absent ears
What s/s will a baby express if the mother was taking SSRIs?
CNS signs - irritability, seizure
Motor signs - agitation, tremor, hypertonia
Respiratory - increased respirations, nasal congestion
GI - diarrhea, vomiting, feeding difficulty
How will a baby present if the mother has been using tobacco?
Associated with low birth weight, infant’s ability to be comforted, with exaggerated startle reflex and tremor
Fetal alcohol syndrome is especially prominent in mother who intake exceed _____/day. What are some s/s? How do you dx it?
3 oz/day
short
poor head growth
developmental delay
midface hypoplasia
Poorly developed philtrum, thin upper lip, narrow palpebral fissures, short nose with anteverted nostrils
cardiac and genital anomalies
neural tube defects
neurobehavioral: Poor judgement, inappropriate social interactions
Diagnosis strictly based on maternal hx and clinical findings. No blood test
What are the facial points about fetal alcohol syndrome that Dr. Darnell pointed out during lecture?
quarter shaped eyes
smooth philtrum
epicanthal folds
thin upper lip
_____ is linked to Increased risk of depression in childhood. Hyperactivity, impulsivity, inattention, and delinquency
marijuana
____ has the most drastic effect on mother and fetus. Including low birth weight, prematurity and IUGR
opiates
When does heroin withdrawal typically start after birth? When does BZD withdrawal typically start?
Heroin withdrawal may start at 24 hrs after birth and peak at 48-72 hrs, but may be delayed as long as 6 days
BZD: Due to longer half life, withdrawal may not start for 2 wks
Why do babies have a harder time metabolizing the substances?
accumulation occurs in the fetus because of the immaturity of renal function and the enzymes used for metabolism
aka the kidneys and liver are NOT well develop and they have a hard time
High-pitched cry
Jitteriness
Tremors
Convulsions
Sweating, fever
Mottling
Excessive sucking and rooting
Poor feeding
Vomiting and diarrhea
What am I?
What would you use to dx?
neonatal abstinence syndrome
babies are constantly screaming
Blood tests, urine toxicology, meconium analysis, cord blood, hair
______ is used to rate newborn born potentially addicted to substances. What score indicates treatment? How often is it checked?
neonatal abstinence score
3 scores of 8s in a row, then you need to treat
q 3-4 hours unless the infant scored 8 or higher then the interval is increased to q 2 hours and continued for 24 hours from the last score that was 8 or higher
When do you start scoring the infant according to NAS? What if the baby does not need tx?
first score is noted 2 hours after birth/admission
if rx is NOT needed then the infant is scored for the first 4 days of life at 4 hour intervals
What is Finnegan CNS based on?
high pitched cry
sleep
moro reflex
What is the first line treatment for NAS? 2nd line? What is used as an analgesic in the NICU?
1st line: morphine or methadone
2nd line: Phenobarbital
fentanyl used for pain relief, usually with morphine
_____ is the tx for an opioid dependent mother for detoxification
methadone
_______ prenatal exposure required less morphine, with shorter recovery time and less hospitalization for infants than Methadone
Buprenorphine (Subutex / Suboxone)
High dose of _____ use should undergo medical detoxification to minimize or prevent withdrawal symptoms
Benzodiazepine
Compare methadone to Suboxone in terms of benefits to mom and baby
methadone: better rate of retaining mom in tx program
suboxone: is better for baby because it leads to lower rates of withdrawal and higher birth weights in babies
A baby born with small or absent ears may have had a mom taking what ?
retinoids
FDA Class of drugs in pregnancy is now known as what ?
PLLR
Pregnancy,Lactation Labeling Rule
_____ generally contraindicated in pregnant women. Caution in women who may become pregnant within ______ period
Live vaccines
within 4 weeks
What 4 vaccines are NOT APPROVED to give while pregnant?
HPV
Flu Mist via nose
MMR
Varicella
What congenital disorders are considered aneuploidy? What is it?
Aneuploidy- abnormal number of chromosome
Trisomies 13, 18, 21
Klinefelter Syndrome (47, XXY)
Turner Syndrome (45, X)
What are 2 autosomal dominant disorders?
Marfan’s Syndrome
Achondroplasia (dwarfism)
What are 2 autosomal recessive disorders?
Cystic Fibrosis
Phenylketonuria (PKU)
______ is an X linked recessive disorder
fragile X syndrome
What are the 4 components of the Quad screening? What are the 2 invasive testing options?
Beta-hCG, AFP, Inhibin A, Estriol
Choroid villus sampling or Amniocentesis
_____ is the MC abnormality of chromosome number. When in replication does it occur?
trisomy 21
Meiosis 1
40% of trisomy 21 babies will have _____
cardiac abnormalities
Normal birth weight
Hypotonia
Flattened occiput, nasal bridge
Upslanting of the palpebral fissures, epicanthal folds
Large, protruding tongue
**Single Palmar creases and wide gap between first and second toes
Cognitive delay
**curved 5th digit
What am I?
trisomy 21
What are 5 body systems that are more likely to have problems for kid with trisomy 21?
⅓ - ½ have congenital heart disease
GI anomalies: esophageal and duodenal atresia and CELIAC
hypothyroidism
polycythemia at birth with prolonged jaundice
12-20 fold increase of leukemia!!
What week gestation is it recommended to get a quad screen?
week 14-18
**Draw the chart that show the results of the Quad screen as it relates to Down, Turner, Edward and Patau Syndrome
What are the odds of a 35 year old woman having a child with Down Syndrome? 40? 45?
35: 1/350
40: 1/100
45: 1/30
What is another name for Edward’s Syndrome? What does 95% of the population have? What is the 1 year survival rate?
trisomy 18
95% have heart defects
2%
Describe the hands, feet, chest and head of a baby with Trisomy 18?
Overlapping fingers with CLENCHED FIST
rocker-bottom feet
wide sterum with wide set nipples
prominent occiput
What is this? What genetic condition?
rocker bottom feet
trisomy 18
What am I? What genetic condition? How do you dx?
crossing over fingers
trisomy 18
genetic testing
______ is the 2nd MC autosomal trisomy/ What is the MC defect? What is the MC cause of death?
trisomy 18
ventricular septal defect
central apnea
What is another name for trisomy 13? What are common abnormalities? What is the 1 year survival rate? MC in male or female?
Patau’s Syndrome
Abnormalities of every organ system and most are incompatible with life
3%
60% are female
**What are the prominent features of trisomy 13 that were mentioned in lecture?
**eye are super close set if not fused together as one
**extra digits
**cleft lip
**clenched hands
**aplasia cutis congenita (cutis aplasia)
**What am I? What genetic condition?
Aplasia cutis congenita (Cutis aplasia)
trisomy 13
Absence of a portion of skin in a localized or widespread area at birth, 70% on the scalp
_____% of trisomy 18 pregnancies end in spontaneous abortion. MC in males or females?
85%
MC in females, 3:1 ratio
What is the karyotype of Klinefelter Syndrome? How common is it? What does it come from?
XXY
1 in 1000 males
Extra X Chromosome arises from nondisjunction in either the sperm or egg
______ is the most common genetic cause of hypogonadism and infertility in men. When is it usually recognized?
Klinefelter Syndrome
age 15-16
Gynecomastia
Tall, long limbs
Normal pubic hair but gonadal dysgenesis
small testis
lack of libido
minimal facial hair
normal to low IQ
usually infertile
What am I?
**What is the highlighted symptom?
Klinefelter syndrome
**small testis, tall slender men
What should clue clinicians in to Klinefelter Syndrome?
Progressive development of pubic and axillary hair in the presence of infantile testicular volume
Males fail to progress to increased facial hair, deepening voice, increased libido
In Klinefelter Syndrome, what determines how intellectually impaired they are?
may have XXY, XXXY, or XXXXY. - if so, the more X they have the more intellectually impaired
How do you dx Klinefelter Syndrome? What is the tx?
dx: genetic testing
tx: testosterone replacement therapy
What is the karyotype for Turner Syndrome? What is it caused by? How common is it? What is the life expectancy?
45, XO
Sex chromosome disorder caused by loss of part or all of an X chromosome
1 in 2000 - 2500 live female births
normal intelligence and life expectancy
95 - 99% of embryos with 45 X are ______. **What is the characteristic feature?
spontaneously aborted
**Web neck, with shield chest with widened nipple distance, puggy hands, low hairline
**Why is Turner syndrome not a good thing to have?
**Aortic valve defects, coarctation
also tend to have a horseshoe kidney, be short and dont go through puberty and are infertile
10% of women with Turner Syndrome _______ but may need ______
have normal pubertal development
estrogen replacement to complete sexual development
Females with Turner Syndrome, will the estrogen correct the infertility? _____ is a potentially life threatening complication of pregnancy
estrogen does NOT correct infertility, 10% can get pregnant
heart disease and aortic dissection while pregnant
What is the tx for Turner Syndrome?
androgens, human growth hormones, small doses of estrogen and later progesterone
How do females with Turner Syndrome carry their arms?
have a wider carrying angle of their arms when by their side in anatomical position
How is Marfan syndrome inherited? What gene? Does it effect males and females?
Autosomal dominant connective tissue disorder
Mutation in the fibrillin 1 gene on chromosome 15q21.1
both sexes equally
What are the classic s/s of Marfan syndrome?
tall, thin with super long wing span
dislocation of the lens and cataracts
Pectus excavatum or carinatum and scoliosis
How does Marfan Syndrome affect the heart? **How do you dx Marfan syndrome?
Progressive dilation of the aortic root and
dysrhythmias
Ghent criteria to calculate Marfan score
What are the 3 general complications of Marfan’s syndrome?
sciolosis
astigatism, myopia and lens dislocation
MVP, progressive aortic root dilation - causing aortic insufficiency, aneurysmal rupture, progressive valvular incompetence
What is the tx for Marfan’s Syndrome? **What is the exercise recommendation?
serial echos!! with BB and losartan to tx cardiac abnormalities
frequent eye exams
genetic eval
***Restriction of strenuous exercise
_____ is used to slow rate of aortic root dilation in Marfan’s syndrome
losartan
** _____ is the MC inherited cause of mental retardation / cognitive disability in males. **What is the responsible gene?
fragile X syndrome
FMR1
How common is fragile X?
1 in 1000-4000 males; 1 in every 7000-9000 females
Intellectual disabilities
Oblong face with large ears
Large Testis
Hyperextensible joints
Mitral Valve Prolapse
Broad foreheads
What am I?
How do you dx?
What is the tx?
fragile X
genetic testing
Genetic counseling
Behavioral therapy
psych, developmental specialists etc
How is CF inherited? **What gene?
autosomal recessive
**Gene located on long arm of Chromosome 7 - CFTR
_____ is the MC life-shortening autosomal recessive genetic disease among Caucasians. How common is it?
CF
1 in 3000 Caucasians; 1 in 22 are carriers
**What is the pathophys behind CF?
- Thick, viscous secretions in the lungs, pancreas, liver, intestine, reproductive tract, lead to increased salt content in sweat glands.
- Chronic PROGRESSIVE disease that can present with protein and fat malabsorption (failure to thrive, hypoalbuminemia, steatorrhea), liver disease (cholestatic jaundice), or chronic respiratory infection
What are 4 common organ systems that have complications due to CF?
- nose: Rhinitis, nasal polyps, sinusitis
- respiratory tract: impermeability to chloride and excessive reabsorption of sodium - results in decreased mucociliary transport- think chronic lung infections
- GI- Meconium ileus or peritonitis, volvulus, rectal prolapse, intussusception, growth failure (due to malabsorption)
- Genitourinary- Infertility - abnormal mucus in sperm and fallopian tubes, delayed puberty (due to nutritional def and underweight), digital clubbing. More than 95% are infertile
**What 3 pathogens love to colonize the airway of a pt with CF?
Staph aureus
Haemophilus influenzae
Pseudomonas aeruginosa
What type of pulmonary disease will a pt with CF PFTs be consistent with?
obstructive airway disease!
How is CF dx? **How is the dx confirmed? ______ is used for the test
newborn screening in most states
Confirmed by positive sweat chloride test (>60 mmol/L)
pilocarpine is used for sweat test
What is the tx for CF?
follow with pulm and infectious dz
PERT (Pancreatic enzyme replacement therapy )
frequent abx thereapy, neb tx and vibrating vest to break up mucous in chest
LUNG transplant!!
How is PKU inherited? What is a result of?
Autosomal recessive metabolic disease
Lack the enzyme to break down phenylalanine
**What will a kid with untreated PKU smell like? If not treated, what is the kid at risk for?
Untreated kids have a musty or “mousy “ odor
If diet not followed, run risk of developmental delay , seizures , intellectual issues, mental health issues
A kid with PKU must restrict _____ and ______
protein restricted
aspartame
What are cleft lip/palate caused from? Are they MC in males or females?
Caused by relative excesses or deficits of tissue along the linear anatomic planes
male: cleft lip/palate together
male cleft lip solo
female: cleft palate solo
What week of gestation does a cleft lip/palate form?
third and eighth weeks gestation. When fusion of the face, around the 6th week is disrupted
What are the risk factors for a cleft lip/palate?
family hx
Exposure to radiation
Viral infections
Metabolic abnormalities
Teratogenic compounds (Phenytoin, Valproic acid, thalidomide, ETOH, tobacco, dioxins and herbicides)
How is a cleft palate diagnosed? What is the prevention?
2nd trimester of preg on US
high dose folic acid and mutlivitamin
Why is cleft lip/palate a problem? What is the tx?
Direct communication between the nasal and oral cavities, creating problems with speech and feeding and ears
Surgical closure (lip - usually by 12 months of age, followed by palate by 18 months of age)
speech therapy, dental help, genetic counseling
What is the underlying cause of Duchenne Muscular dystrophy? What gene?
Synthesis failure of the muscle cytoskeletal protein dystrophin
DMD gene on X chromosome: muscle does not maintain its integrity
Is Duchenne muscular dystrophy MC in males or females? What are some common signs?
1 in 4,000 males. Can also happen ( rarely ) in females
proximal muscle weakness and hypertrophic calf muscles
What lac value will be crazy high in Duchenne Muscular Dystrophy? What age? How do you dx?
Serum creatine kinase levels markedly elevated
noticeable around 5-6 years old
detecting duplications or deletions of the dystrophin gene
What is the tx for Duchenne MD? What is the prognosis?
Corticosteroids
Death usually in 20’s due to cardiac or respiratory failure
**What is Ehlers-Danlos Syndrome? What are some classic findings?
**Inherited genetic disorder involving a defect in the collagen and connective tissue synthesis and structure
Joint hypermobility, cutaneous fragility (skin extensibility with scarring tendency), and hyperextensibility
Why is Ehlers-Danlos Syndrome a bad thing? What is the joint scoring system used?
May also have aortic aneurysms, valvular prolapse, or spontaneous pneumothorax
The Beighton scoring system measures JOINT HYPERMOBILITY
What is the highest score possible for Beighton Scoring system? What dz?
9 is the total score
Ehlers-Danlos Syndrome but just measures JOINT HYPERMOBILITY
______ criteria is the scoring system used to dx Ehlers-Danlos Syndrome? What 2 additional things factor into the dx?
Brighton criteria
genetic testing and Beighton score
Are patients with Ehlers-Danlos Syndrome allowed to play sports?
Avoidance of dangerous contact sports
What 5 parts of the body are tested for in the Beighton score?
Pinky finger
thumbs
elbows
knees
spine
