Congenital Disorders Flashcards
(166 cards)
1
Q
What is the new system for medication in pregnancy?
A
PLLR Rule
2
Q
What substances are included in maternal substance use?
A
- Tobacco use
- Prescription drug use- SSRIs, anticonvulsants, retinoids
- Marijuana, cocaine, heroin, hallucinogens, inhalants, prescription psychotherapeutics used non-medically, EtoH
3
Q
What percent of pregnant opioid using women reported their pregnancy was unintended?
A
86%
4
Q
What is the definition of neonatal abstinence syndrome?
A
- Neonate has intrauterine exposure to substance
- Depends on drug, length of use, amount used
- S/Sx of withdrawal apparent
- Baby will stay in hospital for treatment
5
Q
What state leads the nation in babies with NAS?
A
West Virginia
6
Q
What is the number one drug shown on drug screen in WV at birth?
A
THC
7
Q
How is maternal substance use screened for?
A
- Initial presentation at first prenatal visit ideal with repeat screening at every trimester and periodically
- Begin with questions about lawful substances, followed by misuse of OTC meds, next Rx drugs, and so on
- Determine route of administration (PO, IN, SQ, IV)
- Urine screening most common to assess mother’s use
8
Q
What prescription medications have adverse effects on baby?
A
- Anticonvulsants
- Retinoids - isotretinoin (accutane)
9
Q
Possible fetal outcomes if anticonvulsants used prenatally
A
- Small head circumference
- Anteverted nares
- Cleft lip/palate
- Distal digital hypoplasia - specifically with phenytoin
- Spina bifida - specifically with valproic acid
10
Q
Signs and symptoms of maternal retinoid use
A
- Developmental toxicity
- Miscarriage
- CNS malformations
- Congenital heart defects
- TEF
- small or absent ears
11
Q
Signs and symptoms of prenatal SSRI use
A
- Symptoms of NAS
- CNS signs: irritability, seizure
- Motor signs: agitation, tremor, hypertonia
- Respiratory: increased respirations, nasal congestion
- GI: diarrhea, vomiting, feeding difficulty
12
Q
How is tobacco use transferred to baby? What is tobacco use associated with?
A
- Through placenta
- Low birth weight, infant’s ability to be comforted
- Exaggerated startle reflex and tremor
13
Q
What does ETOH use during pregnancy cause?
A
Fetal alcohol syndrome
14
Q
What is included in fetal alcohol syndrome?
A
- Short stature
- Poor head growth - intrauterine and postnatal
- Developmental delay
- Midface hypoplasia
- Poorly developed philtrum, thin upper lip, narrow palpebral fissures, short nose with anteverted nostrils
- Cardiac anomalies, genital anomalies, neural tube defects
- Neurobehavioral: poor judgement, inappropriate social interactions
15
Q
How is FAS diagnosed?
A
- Maternal history and clinical findings. No blood test
16
Q
Signs and symptoms of marijuana use during pregnancy
A
- Increased risk of depression in childhood
- Hyperactivity
- Impulsivity
- Inattention
- Delinquency
17
Q
Signs and symptoms of opiate use during pregnancy
A
- Most drastic effect on mother and fetus
- Withdrawal symptoms
- Low birth weight
- Prematurity
- IUGR
- Heroin withdrawal at 24 hours after birth and peaks in 48-72 hours, but may be delayed as long as 6 days
18
Q
How long may withdrawal from benzos/barbiturates in neonates be delayed?
A
2 weeks
19
Q
After crossing the placental barrier, why do illicit drugs impact the fetus so much?
A
Immaturity of renal function and enzymes used in metabolism
20
Q
Signs and symptoms of neonatal abstinence syndrome
A
- High-pitched cry
- jitteriness
- tremors
- convulsions
- sweating, fever
- mottling
- Excessive sucking and rooting
- Poor feeding
- Vomiting and diarrhea
21
Q
How is neonatal abstinence syndrome diagnosed?
A
- Blood tests
- Urine toxicology
- Meconium analysis
- Cord blood
- Hair
22
Q
What is the scoring criteria used for neonatal abstinence syndrome and when is it considered withdrawal?
A
- Finngan score
- 3 8s in a row
23
Q
When should NAS scoring occur?
A
- First score two hours after birth or admission
- All signs and symptoms observed during scoring interval included in point-total for that period
24
Q
How would a high pitched cry be used to score Finngegan?
A
- High pitched at peak - 2
- High pitched throughout - 3
- Scored if crying is prolonged
25
How would sleep be scored using Finnegan?
* Score longest uninterrupted interval of sleep
* Scoring for premature infant on 3 hour feeds: 1 if <2 hours, 2 if <1 hour, 3 if does not sleep
26
How would Moro reflex be scored according to Finnegan's
* Hyperactive- pronounced jitteriness of hands
* Markedly hyperactive- jitteriness/clonus of hands/feet
27
What happens if infant score during any scoring interval >8
* Scoring increased to 2 hourly and continued for 24 hours from last total score of 8 or higher
28
If pharmacotherapy is not needed, how frequently is the infant scored for the first 4 days of life
4 hour intervals
29
Treatment for neonatal abstinence syndrome
1. Opioids - 1st line (morphine or methadone)
2. Phenobarbital - 2nd line for opioid withdrawal seizure activity and polydrug exposure
3. Fentanyl used as an analgesic in NICU administered with morphine
30
Treatment of mom for maternal substance use
1. Prevention of symptoms with methadone or buprenorphine (Subutex/Suboxone)
2. High dose of benzodiazepine use should undergo medical detoxification to minimize or prevent withdrawal symptoms
3. Test for STDs at initial screen and repeat 3rd trimester
31
Which substance use treating drug is better for retaining mom in treatment? Which is better for baby?
* Better for mom: Methadone
* Better for baby: Suboxone --> lower rates of withdrawal, higher birth weights
32
FDA class of drugs in pregnancy is now know as what?
PLLR
33
How are most drug screens obtained in pregnant women?
Urine
34
A baby born with small or absent ears may have had a mom taking what?
Accutane
35
Class of illegal drugs with the worse outcome for the baby?
Opiates
36
First line of meds for opioid withdrawal in babies?
Methadone
37
What is general guidance for immunizations in pregnancy?
* Live vaccines contraindicated
* Cautioned to be given to children of women who may be or may become pregnant within a 4 weeks period of receiving the vaccine
38
What vaccines can't be given during pregnancy?
* Influenza LAV
* MMR
* Varicella
39
What is aneuploidy?
Abnormal number of chromosomes
40
What conditions are considered aneuploidy?
* Trisomies 13,18, 21: presence of extra chromosome in some or all of body cells
* Klinfelter syndrome (47 XXY)
* Monosomies: Turner syndrome (45, X)
41
What are autosomal dominant genetic disorders that impact neonates?
Marfan's syndrome and achondroplagia
42
What are common autosomal recessive congenital disorders?
Cystic fibrosis and PKU
43
What are common X-linked recessive congenital disorders
Fragile X syndrome
44
What can genetic counseling referrals be given for?
* Planning to become pregnant
* During pregnancy
* Caring for children
45
Candidates for prenatal screening or diagnostic testing?
1. All women should be offered aneuploidy screening in early pregnancy
2. Quadruple screening blood test (b-hCG, AFP, inhibin A, estriol)
3. Option of invasive diagnostic testing (choroid villus sampling or amniocentesis instead of screening, regardless of maternal age if high risk of having offspring with Down syndrome or aneuploidies
46
What are reasons a woman would be considered at high risk for offspring with down syndrome or other aneuploidies?
* Positive screening test for common trisomies
* A previous pregnancy complicated by fetal trisomy
* Current pregnancy with at least one major or 2 minor fetal structural abnormalities
* Chromosomal disorder or a partner with one
47
Why is screening for aneuploidies and other congenital disorders warranted?
* Burden of disease can be significant
* Accurate prenatal tests readily available
* Gives parents options: opportunity to plan for birth of affected child or termination
48
What is the most common abnormalities of chromosome number?
Trisomy 21 (Down syndrome
49
What percent of infants with trisomy 21 have cardiac abnormalities?
40%
50
How does trisomy 21 impact fertility?
* Adult women fertile with 1/3 offspring born with DS
* Males infertile
51
Signs and symptoms of trisomy 21
* Normal birth weight
* Hypotonia
* Flattened occiput, nasal bridge
* Upslanting of palpebral fissures, epicanthal folds
* Large, protruding tongue
* Single palmar creases and wide gap between first and second toes
* Cognitive delay
* Congenital heart disease (1/3-1/2)
* GI anomalies: feeding issues and consipation, up to 30% with esophageal and duodenal atresia, celiac disease
* Hypothyroidism
* Polycythemia at birth with prolonged jaundice
* 12-20 fold increase of leukemia
52
Diagnosis of trisomy 21
1. Quad screen on all pregnancies between week 14-18
2. Maternal AFP low in 50% of trisomies
3. Unconjugates estriol (low)
4. Inhibin A (high)
5. hCG (high)
53
Who is the quad screen recommended for?
* Family history of birth defecs
* 35 +
* Used possible harmful medications or drugs during pregnancy
* Have diabetes and use insulin
* Had a viral infection during pregnancy
* Have been exposed to high levels of radiation
54
Treatment for trisomy 21
* Screening for autoimmune disorders - celiac, thyroid
* Surgical intervention for cardiac and GI abnormalities
* Developmental support - special education - IEPs, therapies - PT, speech, occupational
55
Name 3 vaccines you would not give a pregnant woman
* MMR
* Living flu
* Varicella
56
What 4 blood tests are in the quad screen for pregnant women?
Maternal AFP, unconjugated estriol, inhibin A, hCG
57
What is the most common abnormality of chromosome # in the world?
Trisomy 21
58
What is a moms chance of having a trisomy 21 child at the age of 45
1/30
59
What is the biggest risk factor at birth for a baby born with DS?
Heart defects
60
What autoimmune/blood disorders might you see with DS?
Leukemia, celiac, thyroid
61
What is unique about trisomy 21 hands? Their tongues?
Single palmar crease; big, wrinkled tongue
62
What are common outcomes of trisomy 18?
* Spontaneous abortion
* 2% survival to 1 year
63
Which sex more commonly has trisomy 18?
Female
64
What are features of trisomy 18?
* Heart defects (95%)
* Dysmorphic features
* SGA
* Overlapping fingers
* Rocker-bottom feet
65
Symptoms of trisomy 18
* Clenched firsts
* Low birth weight
* Kidney problems
* Congenital heart disease
* Feet with rounded bottom
* Mental deficiency
* Small head and jaw
* Underdeveloped fingernails
* Unusually shaped chest
* Hole, split, or cleft in iris
66
Signs of trisomy 18
* Unusually large uterus
* Small placenta
* Extra amniotic fluid
* Small breast bone
* Abnormal fingerprint patterns
67
Diagnosis of trisomy 18
Genetic testing
68
Treatment of trisomy 18
* Supportive
* Support groups
* Termination of pregnancy
69
What abnormalities does trisomy 13 cause?
Abnormalities of every organ system
* 1 week survival 40%, 1 year survival 3%, most uncompatible with life
70
What sex more commonly has trisomy?
females (60%)
71
Features of trisomy 13
* FTT (failure to thrive)
* Apneic spells
* Seizures
* Cognitive disabilities
* Deaf
72
Signs and symptoms of trisomy 13: Patau syndrome
* Mental retardation, severe
* Seizures
* Small head (microcephaly)
* Scalp defects (absent skin)
* Small eyes (microphthalmia)
* Cleft lip and/or palate
* Eyes close set (hypotelorism) may even fuse
* Iris defects (coloboma)
* Pinna abnormalities and low set ears
* Simian crease
* Extra digits (polydactyly)
* Hernias: umbilical, inguinal
* Undescended testicle (cryptorchidism)
* Hypotonia
* Micrognathia
* Skeletal (limb) abnormalities
73
Key physical features of trisomy 13
* Small head
* Absent eyebrows
* Cleft lip and/or palate
* Dysplastic or malformed ears
* Clenched hands and polydactyly, or extra fingers
* Undescended or abnormal testes
* Aplasia cutis congenita
74
What is aplasia cutis congenita
absence of a portion of skin in a localized or widespread area at birth, generally on scalp
75
Diagnosis of trisomy 13
genetic testing
76
Treatment of trisomy 13
supportive
* therapy
* support groups
* termination of pregnancy
77
how long might a trisomy 18 live?
only 2% live to one, majority 1 week
78
What percent actually miscarry with trisomy 18?
85%
79
What is unique about trisomy 18 feet?
Rocker bottom
80
Are trisomy 18 and 13 more common in females or males?
Female
81
What is unique about the scalp of a trisomy 13
cutis aplasia
82
Which trisomy is associated with a cleft lip/palate?
13
83
What is a common risk factor for klinefelter syndrome
advanced maternal age, rarely causes spontaneous abortion of fetus
84
What is klinefelter syndrome?
XXY arising from nondisjunction in either sperm or egg
85
What does klinefelter syndrome commonly cause?
hypogonadism and infertility in men
## Footnote
most common genetic cause
86
signs and symptoms of klinefelter syndrome
* Usually recognizable at 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
* Most men are infertile due to few viable sperm
87
What signs should alert clinician to possibility of Klinefelters?
* Progressive development of pubic and axillary hair in presence of infantile testicular volume should alert clinicians
* Males fail to progress to increased facial hair, deepening voice, increased libido
* May have XXY, XXXY, XXXXY and the more X the more intellectually impaired
88
Diagnosis of Klinefelter syndrome
Genetic testing
89
Treatment of Klinefelter syndrome
Testosterone replacement therapy
90
What causes Turner syndrome?
* Loss of part or all of an X chromosome
91
What percent of embryos with 45 X are spontaneously aborted?
95-99%
92
When are the majority of Turner syndrome patients diagnosed?
* 33% infancy
* 33% childhood
* 33% adolescence
93
S/Sx of Turner syndrome
* Normal life expectancy and intelligence
* Low set malformed ears, flattened nasal bridge and triangular facies
* Web neck
* Shield chest with widened nipple distance
* Aortic valve defects, coarctation
* Genitourinary malformations: Horseshoe kidney
* Short stature
* Absent puberty (primary amenorrhea) and infertility
94
Management of Turner syndrome
* 10% have normal pubertal development and are fertile, most require estrogen replacement to complete secondary sexual development
* Infertility is not correctable with estrogen
* Pregnancy dangerous due to high potential for heart disease and aortic dissection while pregnant
* Treatment with androgens, human growth hormones, small doses of estrogen and later progesterone
95
Diagnosis of Turner syndrome
Genetic testing
96
Counseling for child with Turner syndrome
Low fertility rate with high chance of spontaneous miscarriage, stillbirth, chromosomal abnormalities, prenatal U/S and chromosome analysis
97
Name the genotype that is the leading cause of infertility in males
XXY
98
Klinefelter;s will have normal pubic hair,, but deficient what on PE?
Testicular/penile growth
99
In Klinefelter's the more ---- they have, the more intellectual impairment
X
100
What percent of Turner's miscarry while mom is pregnant? What is the genotype?
95-99%
XO
101
Can a girl with Turner's get pregnant?
10% can
102
Can you correct a female with Turner's infertility with estrogen
no
103
What is Marfan's syndrome?
* Autosomal dominant
* Connective tissue disorder
* Mutation in fibrillin 1 gene on chromosome 15q21.1
104
Which sex is affected more by Marfan's syndrome?
Both equally
105
Cardiac s/sx of marfan's syndrome
* Progressive dilation of aortic root
* Dysrhythmias
106
Orthopedic s/sx of Marfan's syndrome
* Tall, thin body, & long, thin face
* Pectus excavatum or carinatum
* Scoliosis
* Pes planus
* Joint laxity
107
Opthalmologic/oral s/sx of Marfan's syndrome
* Dislocation of lens
* Cataracts
* Down-slanting palpebral fissures
* High-arched palate/crowning denition
108
Diagnosis of Marfan's Syndrome
* Ghent criteria --> calculate Marfan score
* Genetic testing
109
Complications of Marfan's syndrome
* Progressive scoliosis
* Astigmatism, myopia, lens dislocation
* MVP, progressive aortic root dilation causing aortic insufficiency, aneurysmal rupture, progressive valvular incompetence
110
Treatment of Marfan's syndrome
* Serial ECHOs
* Treat cardiac abnormalities with Beta blockers to decrease wear and tear on aorta and lower preload. Surgery when aorta reaches 5.5 cm
* Losartan (Cozaar)- ARB slows rate of aortic root dilation
* Frequent eye exams
* Restriction of strenuous exercise
* Genetic evaluation in adolescents/genetic counseling
111
Most common inherited cause of mental retardation/cognitive disability in males
Fragile X syndrome
112
What causes fragile X syndrome
FMR1 gene
Localized inactivation of distal genes and instability of site may lead to tissue mosaicism
113
S/s of fragile x
* Intellectual disabilities, such as autism spectrum disorder or pervasive developmental disorder
* Oblong face with large ears
* Large testis
* Hyperextensible joints
* Mitral valve prolapse
114
Diagnosis of fragile X
DNA testing, after genetic testing to look specifically for FMR1 mutation
115
Treatment for fragile X
* Genetic counseling
* Behavioral therapy
* Other specialties - psych, developmental specialists
116
Most common life-shortening autosomal recessive genetic disease among caucasions
Cystic fibrosis
117
What are 3 main things that will be seen in cystic fibrosis?
* Pulmonary infection
* Pancreatic insufficiency
* Elevated sweat chloride test
118
Median survival in cystic fibrosis
39 years
119
Where is gene located for cystic fibrosis
Long arm of chromosome 7 -CFTR
120
What is the pathophysiology of cystic fibrosis
* Chromosome 7 encodes for CFTR polypeptide
* CFTR = chloride channel on apical surface of epithelial cells
* CFTR important in movement of slat and water across membrane
* Lack of normal CFTR --> chloride ion conductance in sweat gland, resulting in excessively high sweat sodium and chloride levels
* protein not working correctly, chloride trapped in cells
* without movement of chloride, water cannot hydrate cellular surface
* Mucu covering cells becomes thick and sticky
121
What occurs in organs in cystic fibrosis?
* Thick viscous secretions in lungs, pancreas, liver, intestine, reproductive tract, lead to increased salt content in sweat glands
* Chronic progressive disease presents with protein and fat malabsorption, liver disease, or chronic respiratory infection
122
Complications of cystic fibrosis
* Nose: rhinitis, nasal polyps, sinusitis
* Respiratory tract: decreased mucociliary transport (pseudomonas and staph aureus infections) --> bronchitis, pneumonia, atelectasis, pneumothorax, resp failure/ mucoid impaction
* GI: meconium ileus or peritonitis, volvulus, rectal prolapse, intussusception, growth failure (due to malabsorption)
* GU: infertility- abnormal mucus in sperm and fallopian tubes, delayed puberty, digital clubbing, 95+% infertile
123
What are pulmonary symptoms of cystic fibrosis
* Persistent, productive cough
* Hyperinflation of lung fields on CXR
* Pulmonary function tests consistent with obstructive airway diseae
124
Diagnosis of cystic fibrosis
1. Newborn screening
2. Confirmed by positive sweat chloride test using pilocarpine (alkaloid that stimulates secretion of large amounts of saliva and sweat)
3. Lab testing for fecal elastase to measure pancreatic insufficiency
4. DNA testing for CF
125
Treatment of cystic fibrosis
* F/U with pulmonology on regular basis
* F/U with infectious disease
* Genetic counseling
* Pancreatic enzyme replacement therapy
* Antibiotic therapy, neb treatments, vest treatments
* Lung transplant
126
How is PKU diagnosed?
Newborn screen
127
What is inheritance pattern of PKU
autosomal recessive
128
What is PKU?
lack enzyme to break down phenylalanine
129
Treatment of PKU
* Protein restricted diet
* If diet not followed, risk of developmental delay, seizures, intellectual issues, mental health issues
* Restrict aspartame
* Untreated kids have musty or mousy odor
130
What is inheritance of Marfan's
Autosomal dominant
131
Chromosome involved in Marfan's? Gene involved?
15q21.1
fibrillin 1 gene
132
What part of Marfan's could prove lethal?
Aneurysm
133
What is restricted in these patients?
Heavy exertion
134
What is the most common inherited form of MR in males?
Fragile X
135
What is responsible for fragile X?
FMR1gene
136
What is the most common form of genetic life shortening disease in caucasians?
Cystic fibrosis
137
Where does the gene for CF reside?
7
138
What does the chromosome for CF code for?
CFTR
139
CF kids have elevation of ---- and ---- in sweat
Na+, Cl-
140
What 3 bacteria will you find colonized in a CF patient
staph aureus, pseudomonas, H. flu
141
Do CF patients grow at proper rate?
No
142
What causes cleft palate?
Excesses or deficits of tissue along linear anatomic planes
143
What sex more commonly has cleft palate
Male predominance with cleft lip and palate, cleft lip more common in male, cleft palate more common in female
144
Pathophysiology of cleft lip/palate
* Occurs between third and eighth weeks gestation, fusion of face disrupted
* Multiple genetic and environmental factors: exposure to radiation, viral infections, metabolic abnormalities, teratogenic compounds
145
Diagnosis of cleft palate
2nd trimester of pregnancy on US
146
Prevention of cleft palate
High dose of folic acid and multivitamins?
147
What problems does cleft lip and palate cause?
speech, feeding, and ears
148
Treatment of cleft palate
* Surgical closure (lip by 12 months age followed by palate by 18 months age)
* Speech therapy
* Pediatrician for OM/ENT
* Dental help for chronic issues
* Speech therapy
* Genetic counseling
149
What causes Duchenne Muscular dystrophy
* Synthesis failure of muscle cytoskeletal protein dystrophin
* DMD gene on X chromosome
* Muscle will not maintain integrity
--> progressive degeneration of skeletal and cardiac muscle
150
Signs and symptoms of DMD
* Proximal muscle weakness and hypertrophy of calf muscles
* Usually noticeable around 5-6 y/o
* Serum creatine kinase levels markedly elevated
151
Diagnosis of DMD
* Detection of duplications or deletions of dystrophin gene
152
Prognosis of DMD
Death usually in 20s due to cardiac or respiratory failure
153
Treatment for DMD
* Corticosteroids - maintaining strength
* Genetic counseling
154
Inherited genetic disorder involving a defect in the collagen and connective tissue synthesis and structure
Ehlers-Danlos syndrome
155
Presentation of Ehlers-Danlos syndrome
* Joint hypermobility
* Cutaneous fragility (skin extensibility with scarring tendency)
* Hyperextensibility
* Aortic aneurysms
* Valvular prolapse
* Spontaneous pneumothorax
* Cigareete-paper-like scars
156
What scoring system is used to measure joint hypermobility in Ehlers Danlos
Beighton scoring system followed by brighton criteria
157
Diagnosis of Ehlers-Danlos syndrome
* Genetic testing
* Beighton score/Brighton criteria
158
Treatment of Ehlers-Danlos syndrome
* Avoidance of dangerous contact sports
* Follow up with cardiologist, orthopedics, rheumatologic, dermatology
159
Cleft palate and lip occur during what week of pregnancy?
* 5-8
160
What are proposed reasons a child has a CL/CP?
* Radiation
* Virus
* Metabolic abnormality
161
What is the gene involved in DMD
DMD gene on X chromosome
162
What blood test is remarkably elevated in DMD
CPK
163
What 5 parts of the body are tested for the Beighton score?
* Thumb
* Fingers
* Elbows
* Knees
* Spine
164
Major Brighton criteria
* Beighton score of >4
* Arthralgia for longer than 3 months in 4 or more joints
165
Minor Brighton criteria
* Beighton score of 1, 2, or 3
* Arthralgia in one to three joints or back pain or spondlyosis
* Dislocation or subluxation in more than one joint, or in one joint on more than one occasion
* Three or more soft tissue lesions
* Marfanoid habitus
* Skin striae, hyperextensibility, thin skin, or abnormal scarring
* Ocular signs: drooping eyelids, myopia, antimongoloid slant
* Varicose veins, hernia, or uterine or rectal prolapse
* Mitral valve prolapse
166
Brighton requirements for ED diagnosis
* 2 major criteria
* One major plus 2 minotr criteria
* Four minor criteria
* 2 minor criteria and unequivocally affected first degree relative in family history
