Written MFM Boards 2 Flashcards
1
Q
Method to assess effect of different factors on survival
A
Cox regression
2
Q
Reported neonatal toxicity with SSRI use
A
persistent pulmonary HTN (right-left shunting across ovale and PDA can lead to fetal hypoxia)
3
Q
Rate limiting step in T3/T4 production
A
Trapping of Iodide in thyroid gland
4
Q
What is function of TPO enzyme
A
Converts Iodide to Iodine in the thyroid gland
5
Q
What is function of thyroglobulin
A
Stores T3 and T4 in thyroid gland
6
Q
Thyroglobulin vs thyroid binding globulin
A
Thyroglobulin - stores T3/T4 in thyroid gland
TBG - protein that T3/T4 are bound to in serum
7
Q
Type of receptor T3 and T4 bind to
A
Nuclear receptor
T3 affinity >T4
8
Q
Most accurate thyroid testing in critically ill patients?
A
Free T4
9
Q
What thyroid level is typically elevated in critical illness, as a result of physiology not pathology?
A
rT3
10
Q
Thyroid hormone changes in pregnancy: TRH TSH Free T3/T4 Total T3/T4 Thyroid binding globulin
A
TRH/TSH - decreased
Free T3/T4 - same or marginally increased
Total T3/T4 - increase
TBG - increase
11
Q
Enzymes (deiodinases) involved in peripheral conversion of T4–>T3
A
Type I - unchanged in pregnancy
Type II - in placenta, maintains local placental levels of T3
Type III - in placenta, makes rT3
12
Q
Thyroid hormones that cross the placenta
A
T4
TRH
13
Q
Thyroid hormone that does not cross placenta
A
TSH
14
Q
Amniotic fluid levels of thyroid hormone are reflective of maternal or fetal thyroid serum levels
A
Fetal
15
Q
What happens to neonatal thyroid levels following delivery and why?
A
transient hyperthyroxinemia – thought to help with thermoregulation
16
Q
Anti-TPO but no overt hypothyroidism, at risk of what
A
Postpartum thyroiditis
Hypothyroidism
17
Q
Iodine intake recommendation pregnancy/lactation
A
WHO - 250ug daily
ATA - 150ug daily
IOM - 220ug pregnancy and 290ug lactation daily
18
Q
When is fetal TSH present? Fetal T3/T4?
A
TSH at 10-12 weeks as fetal thyroid can capture iodide, but not much T3/T4 until 18-20 weeks
19
Q
How to test for iodine deficiency
A
Urine iodine levels:
24hr secretion >100ug intake is sufficient
<50ug moderate deficiency
20
Q
Iodine deficiency can be exacerbated by what deficiency
A
Selenium
21
Q
Pregnancy complications associated with hypothyroidism
A
Pregnancy loss Stillbirth LBW Preeclampsia Abruptions
22
Q
When to test for thyroid stimulating antibodies in pregnancy
A
After 20 weeks, as high hCG can falsely low Ab
23
Q
Hyperthyroidism treatment in pregnancy
A
1st tri: PTU, avoid long term use hepatotoxicity
2nd/3rd tri: MMI, avoid in 1st tri because of choanal atresia, aplasia cutis, TE fistula
24
Q
PTU:MMI dose equivalents
A
20:1
25
Fetal hypothyroid signs
Goiter
Bradycardia
Growth restriction
26
How are Iodides used for hyperthyroidism treatment?
- Prevent T3/T4 from being released from maternal thyroid
- Use PTU/MMI before using Iodides
- Don't use for more than 2 weeks as crosses placenta and can lead to fetal goiter
27
Fetal hyperthyroidism symptoms
```
Goiter
Tachycardia
Advanced bone age
Hydrops
Craniosynostosis
Growth restriction
```
28
Clinical manifestations of thyroid storm
- Thermoregulatory dysfunction
- CNS effects: agitation, delirium, coma
- GI dysfunction
- CV dysfunction: tachycardia, arrhythmia
29
Lab value predictive of high risk fetal hyperthyroidism
>300% TSI
30
Protocol for Thyroid Storm treatment
1. B-blocker
2. PTU
3. 1 hr after PTU given Potassium Iodide
4. Dexamethasone
31
Congenital myotonic dystrophy inheritance pattern
AD - trinucleotide repeat
32
Ultrasound findings of congenital myotonic dystrophy
```
Polyhydramnios
DFM
PTB
FGR
Club foot
```
33
Pathophysiology of TTP
Platelet aggregates form leading to micro-occlusion of vessels
34
Vessels predominately effected by TTP
Brain and kidney
35
Classic pentad of clinical findings in TTP
1. Fever
2. Kidney damage
3. Neuro dysfunction
4. Hemolytic anemia
5. Thrombocytopenia
**Anemia, thrombocytopenia and neuro changes are most common
36
TTP caused by antibodies to
ADAMTS-13
37
Serum finding that can aid in differentiating HELLP and TTP
antithrombin III level decreased in HELLP
38
Treatment for TTP
Plasmapheresis and plasma exchange with platelet-poor FFP
Typically followed by steroids
Treament 5d if rapid complete response, 3-4weeks if partial response
39
Treatment for refractory TTP
Vincristine
Azathioprine
Splenectomy
40
Lab values to help differentiate between HUS/TTP and AFLP
AFLP - decrease antithrombin III and coagulopathy
41
Most specific maternal serum testing for acute CMV infection
Low avidity IgG (2-4months)
IgM positive - can be positive for long time, can be false positive from other viruses, can be positive from reactivation
42
Bacterial enzyme linked to preterm labor
Phospholipase A2
43
List fetal organs that receive most cardiac output
1. placenta
2. lower body
3. upper body
4. lungs
5. GI tract
6. Heart/brain/kidneys
7. Liver
8. Spleen
9. Adrenas
44
Part of fetal heart with highest PO2
Left atrium
45
Po2 values of umbilical artery and vein on cord gases
```
vein = 28-32
artery = 19
```
46
Warfarin embryopathy risk is highest at what GA
6-12 weeks
47
Risk of congenital anomaly when Hgb A1c < or > 8.5%
<8.5% --> 3% risk
| >8.5% --> 22% risk
48
Causes of low estriol (2)
1. X-linked ichthyosis: due to placental sulfatase deficiency
2. SLOS: due to mutation in 3-betaOH-7-dehydrocholesterol reductase
49
Clinical findings of SLOS
```
Polydactyly/Syndactyly
Microcephaly
FGR
Cleft lip/palate
Ambiguous genitalia
```
50
Level of what protein is elevated in SLOS? What is low?
7-DHC levels in amniotic fluid
Cholesterol levels are low
51
Aneuploidies associated with low PAPP-A
T21 and T18 (very low)
52
OB complications associated with low PAPP-A
```
pre-eclampsia
FGR
PTB
SAB
IUFD
```
53
AFP made by what structures
Yolk sac
Fetal GI tract
Fetal liver
54
Causes of elevated MSAFP
1. Fetal anomaly - ONTD, abdominal wall defect
2. Congenital nephrosis
3. Teratomas
4. Incorrect dating
5. Multifetal gestation
6. Fetal death
7. PAS
55
How do the following affect MSAFP levels
1. weight
2. DM
3. Race
4. GA
1. larger weight means lower MSAFP (more diluted)
2. DM have lower MSAFP
3. Black women have higher MSAFP
4. Increase in MSAFP with increasing GA
56
OB complications associated with elevated MSAFP
```
FGR
Preeclampsia
PTB
IUFD
Abruption
```
57
Serum screening results in T21
PAPP-A, Estriol, AFP - low
| bHCG, Inhibin - high
58
CRL limits for NT measurement
45-84mm
59
1st trimester serum markers
PAPP-A and b-hCG
60
2nd trimester serum markers
b-hCG
Inhibin A
Estriol
AFP
61
Soft markers with highest to lowest LR for aneploidy
1. Nuchal fold
2. Absent nasal bone
3. Echogenic bowel
4. Short humerus
5. Short femur
6. Echogenic intracardiac focus
7. UTD
8. CPC
62
Causes of low estriol on serum screening
T21
T18
Sulfatase deficiency
SLOS
63
To make it a quad screen which serum analyte is added
Inhibin A
64
Describe integrated screening
1st tri (NT+PAPP-A) and 2nd tri (quad screen) put together to give final risk, reported after completion of all tests
65
Describe stepwise versus contingent sequential screening
Stepwise -- 1st tri risk reported if high, if not elevated then only risk after 2nd is reported
Contingent - 1st tri risk done if low then no further testing, if moderate then 2nd tri testing, if high then diagnostic testing recommended
66
What MoM of PAPP-A levels have highest association with placental insufficency
at or below 0.2
67
OB complications associated with high Inhibin A
Preeclampsia
FGR
IUFD
PTB
68
What does high hCG and high MSAFP indicate
Associated with OB complications
| Confined placental mosaicism for T16
69
Carrier frequency for CF, SMA (white)
CF - 1:25
| SMA - 1:50
70
Gene that causes SMA
SMN1
71
What is the difference between SMN1 copies in non-carriers and carriers
Noncarrier - two copies of SMN1 gene in trans (one on each chromosome)
Carrier - two copies of SMN1 gene in cis (both copies on one chromosome) OR one copy of SMN1 gene
72
What race has higher cis-carrier rate of SMN1
Blacks
73
Osteogenesis imperfecta is caused by what type of genetic mutation
AD mutation in Col1A
74
Achondroplasia is caused by what type of genetic defect
AD condition, mutation in FGFR3
75
```
Differences between pre-renal and intrinsic AKI
BUN:Cr
Urine Na
FENa
Osmolality
Specific gravity
```
```
Pre-renal:
BUN:Cr >20:1
Na <20
FENa <1%
Osm >500
SG >1.02
```
```
Intrinsic:
BUN:Cr 10:1
Na >40
FENa >2%
Osm <350
SG 1.01
```
76
What structures produce adipokines
Adipose tissue
| Placenta
77
Leptin/Adiponectin --- which is proinflammatory?
Leptin
78
In obesity what happens to Leptin/Adiponectin
Leptin -- increases
| Adiponectin -- decreases
79
Elevated Leptin levels in pregnancy are associated with what OB complications
GDM
| pre-eclampsia
80
Hormones regulating Calcium homeostasis
PTH -- stimulates bone resorption
| Vitamin D -- stimulates GI absorption and bone resorb
81
Vit D IU recommendation in pregnancy/lactation
600IU
82
What hormone produced by breasts help increase Ca levels for lactation
PTHrp
83
T/F: placenta makes PTHrp
True
84
Clinical sx of hyperparathyroidism
```
Stones
Weakness
Peptic ulcers
Pancreatitis
Constipation
Anorexia
Nausea/vomiting
HTN
Depression/Psychosis
```
85
Diff dx of hypercalcemia
```
Hyperparathyroidism - secreting nodule
Malignancy
Granulomatous disease
Thyrotoxicosis
Hypervitaminosis D or A
```
86
Neonatal complications of maternal hyperparathyroidism
Neonatal hypocalcemia and tetany
| SAB and stillbirth
87
Medical management of hyperparathyroidism
```
Hydration
Lasix
Phosphates
Calcitonin
Bisphosphonates (not used in pregnancy)
```
88
Clinical sx of hypoparathyroidism
Tetany
Paresthesia
Mental changes
QT prolongation
89
Neonatal complications of maternal hypoparathyroidism
Bone demineralization
FGR
Neonatal hyperparathyroidism
90
Type of cells that make up 40% of the decidua
NK cells
91
Cells of pregnancy that do NOT have MHC class I molecules (HLA)
Syncytiotrophoblast
92
OB complications in IBD
SGA
PTB
Cesarean
Stillbirth
93
T/F: IBD tends to stay the same in terms of activity during pregnancy as it was pre-pregnancy
True
94
Possible side effects of prolonged steroid use
PPROM
GDM
Cleft palate
95
Women on Sulfasalazine should be advised to take what preconception and continue throughout pregnancy
Folic acid 2mg (x1 month preconception)
96
Risk of child having IBD if one or two parents have IBD
1 - 5%
| 2 - 30%
97
If someone presents with symptoms of IBD flare, important to rule out what as well
C. diff
98
T/F: Pregnancy can lead to decreased flares postpartum and longer term in IBD
True
99
Abxs of choice for endocarditis prophylaxis
Ampicillin
Ceftriaxone
Clindamycin
100
IV drug use is associated with endocarditis of which valve
Tricuspid valve
101
Major and minor criteria for infective endocarditis
Major -- +blood cultures or vegetation in imaging
Minor -- predisposing condition, fever, vascular phenomena, immunologic phenomena
102
Definite endocarditis is defined as what based on modified Duke
- 2 major
- 1 major and three minor
- 5 minor
103
2 major functions of adiponectin
1. insulin sensitization
| 2. anti-inflammatory properties
104
Conditions that low adiponectin levels are seen in
Obesity
DM
Metabolic syndrome
105
Most common (2) antigens causing alloimmunization
1. Rh (D)
| 2. Kell
106
Sommatomamotropin levels are ____ in SGA and LGA pregnancies
Decreased in SGA
| Increased in LGA
107
Are Ghrelin levels high or low in obese women
Low
108
Does Ghrelin stimulate or suppress appetite
stimulate appetite
109
What happens to Ghrelin levels over the course of pregnancy
Ghrelin levels high in 1st trimester and decreases over gestation
110
What happens to Leptin levels in pregnancy
Steadily increase
111
Conditions associated with high Leptin
Obesity
DM
GDM
Preeclampsia
112
OB complication associated with decreased adiponectin
LGA
113
Risk of Rh (D) alloimmunization after 1st pregnancy
~1%
114
Without Rhogam what % of Rh negative women will become sensitized
17%
115
Rhogam 300ug protects against how much fetal blood/RBC's
30uL of whole blood or 15mL of RBCs
116
Rh (D) critical titer
>1:16
117
Typical drop in Hct following fetal transfusions
1 point/day post-transfusion
118
What is responsible for Na urinary excretion?
ANP
119
What is responsible for urine Na retention
Aldosterone
120
Congenital heart disease not usually associated with genetic syndrome
Heterotaxy
| Transposition
121
Congenital heart disease with highest rate of associated aneuploidy
AV canal defect
122
Genetic disorders associated with fetal TOF
T21
| DiGeorge
123
Genetic syndrome associated with truncus arteriosus
22q11 deletion
124
Folic acid supplementation recommendations:
(a) sickle cell
(b) twins
(c) singletons
(d) epilepsy
(a) 4-5mg/day
(b) 1mg
(c) 400ug
(d) 4mg
125
How is diagnosis of active versus latent TB made?
Active - positive sputum culture
| Latent - positive testing, no clinical sx, no evidence of active disease on CXR
126
Latent TB treatment in pregnancy regimen
INH 300mg daily for 3-6 months
127
Active TB in pregnancy treatment regimen
Same as non-pregnant
First 2 months: INH + rifampin + pyrazinamide + ethambutol
Next 4 months: INH + rifampin
128
Medication that should be used as adjunct to INH
B6 -- because INH can interfere with B6 metabolism
129
INH side effect and how its monitored
Hepatitis -- check LFTs and bilirubin prior to treatment and then monthly
130
Why is active TB treatment 2-parts?
1st part = kill active organisms
| 2nd part = microbiologic cure
131
TB drug treatment that is contraindicated in pregnancy
Streptomycin -- associated w/ hearing loss
132
pH of breast milk
7.0
133
Location for listening to aortic, TC, mitral, pulmonary valve
Aortic - right upper sternal border
Pulmonary - left upper sternal border
TV - left sternal border, 4th ICS
Mitral - left midclavicular line, 5th ICS
134
Most common valvular problem in chronic rheumatic heart disease
Mitral stenosis followed by aortic stenosis and aortic regurgitation
135
Late valvular manifestation of chronic rheumatic disease
tricuspid regurgitation -- secondary to right heart failure
136
Inheritance of hypertrophic cardiomyopathy
AD, variable penetrance
137
Anti-seizure meds that may worsen muscle weakness in Myasthenia Gravis
Phenytoin (Dilantin)
138
Abx that can potentiate Magnesium neuroblockade
Gentamicin
139
GA most asthma exacerbations occur
24-36 weeks
140
Does FEV1 or PEF change in pregnancy
No
141
Normal range of PEF
380-550L/min
142
In acute asthma exacerbation, after giving a SABA what is considered a good response for at home management and what requires ER presentation
PEF is >80% predicted is good response, if PEF <50% then should present to ER
143
Trisomy 18 findings
```
FGR
Hypertonia
Micrognathia
Horseshoe kidney
Meckels diverticulum
Omphalocele
CDH
ONTD
Cardiac defects - VSD and PDA most common
Clenched hands, overlapping digits
Polyhydramnios
Rocker bottom feet
```
144
Trisomy 13 findings
```
Holoprosencephaly
Micro/anopthalmia
Cardiac defects -- HLHS
Enlarged echogenic kidneys
Postaxial polydactyly
FGR
```
145
What % difference between pre and post-ductal neonatal O2 saturation is abnormal
10%
146
What does a difference in pre and post ductal O2 saturation in neonates indicate
Right to left shunting
147
What is TTN caused by
Continued lung fluid in the parenchyma
148
What is genetic anticipation
phenotype get more severe and/or presents at a younger age with each generation
149
How does cAMP lead to smooth muscle relaxation
cAMP is a second messenger that functions to reduce intracellular Calcium in smooth muscle cells
150
Periventricular leukomalacia most common in what infection
Chorioamnionitis
151
Advantages of delayed cord clamping in term neonate
Increased iron stores
| Higher Hgb levels
152
Disadvantages of delayed cord clamping
Increased risk of hyperbilirubinemia, polycythemia (SGA infants), reduced volume of umbilical blood available for harvesting
153
Advantages of delayed cord clamping in preterm infants
Increased iron and Hgb levels with decreased need for transfusion
Reduce mortality
Improved transitional circulation
Decreased NEC and IVH
154
Risk factors for spina bfida
```
Folate deficiency
Pregestational DM
Obesity
Fever/hyperthermia
Epilepsy
```
155
Autoimmune med associated with 25% teratogenicity risk
Mycophenolate -- ear, eye lip/palate abnormalities
156
True/False: Mitral/Aortic stenosis should be kept wet
True
157
Infectious disease associated with placentomegaly and pale placenta
Syphilis
158
Dermatoses associated with adverse fetal outcomes
Pustular psoriasis
| Pemphigoid gestationalis
159
Maternal congenital cardiac disease with highest risk of same cardiac disease in fetus
1. Aortic Stenosis
| 2. AVSD
160
Chance of fetal congenital heart disease with affected sibling
3%
161
Chance of recurrent HLHS with affected sibling
8%
162
Lupus flare associated with _____ levels of complement
low
163
WBC count in lupus flare can be _____
low or normal
164
Rising dsDNA may be a sign of
lupus flare
165
Drug class of Terbutaline and MOA
Betamimetic, increase cAMP which causes a decrease in intracellular calcium leading to smooth muscle relaxation
166
What femur length:foot length ratio suggests skeletal dysplasia
<1
167
Measurements in skeletal dysplasia that suggest lethality
Femur length: AC <0.16
Chest circumference: AC <0.8
168
Skeletal dysplasia with absent scapula
Campomelic dysplasia
169
Dysplasia with absent or hypoplastic clavicles
Cleidocranial dysplasia
170
Main characteristics of achondrogenesis
1. severe micromelia
2. unossified spine
3. short trunk w/ large head
**lethal**
171
Most common heritable, nonlethal skeletal dysplasia
Achondroplasia
172
Main manifestations of achondroplasia
1. Rhizomelia
2. Frontal bossing
3. Midface hypoplasia
4. Short digits w/ Trident hand
173
Disorders associated with FGFR3 mutations
Achondroplasia
Hypochondroplasia
Thanatophoric dysplasia
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)
174
Cases of recurrent tetra-amelia (missing all 4 limbs) has occured _____
in consanguineous families
175
What is Roberts syndrome
AR -- associated with tetraphocomelia and facial clefts
Cytogenetic analysis shows centrometric separation or "puffing" -- pathognomic
176
Main characteristics of campomelic dysplasia
1. bowed femur/tibiae
2. hypoplastic scapula
3. disorder of sex development
Most are lethal
177
Main characteristics of cleidocranial dysplasia
1. wide cranial sutures
2. hypomineralization of skull
2. absent clavicles
3. dental abnormalities
178
Main characteristics of hyphosphatasia
1. micromelia
| 2. undermineralization (moth eaten appearance)
179
Main characteristics of OI
1. fetal fractures -- bone angulation, crumpled appearance, beading of ribs
2. bone fragility - compression of skull with US probe
3. wormian bones
180
OI type that is perinatally lethal
Type II
181
Short rib-polydactyly syndromes are due to what underlying pathology
primary ciliary dyskinesia
182
Skeletal dysplasia that can be associated with echogenic dysplastic kidneys
Short rib-polydactyly syndromes
183
Main characteristics of Thanatophoric dysplasia
1. Micromelia with bowing
2. Telephone receiver femur (type I)
3. Cloverleaf skull (type II)
4. Macrocephaly
5. Trident shaped hands
6. Small chest
184
T/F: clubfoot more likely to be bilateral
True, 60-70%
185
Genetic associations with Rocker-Bottom feet (most--> lest)
T18 > T13 > T15 (rare)
186
Main characteristics of radial ray malformation
1. absent radius
2. radial deviation of hand
3. absent or abnormal thumb
187
Differential dx of radial ray malformations (6)
1. T18
2. Holt-Oram
3. TAR
4. Fanconi anemia
5. Valproate syndrome
6. VATER/VACTERL
188
Holt-Oram main findings
1. Cardiac septal defects
| 2. Radial ray malformation
189
Main characteristics of Meckel-Gruber Syndrome
1. Cystic renal dysplasia
2. postaxial polydactyly
3. posterior encephalocele
190
Most common aneuploidy with polydactyly
T13
191
Associated with pre-axial polydactyly
Diabetic embryopathy
192
Most common aneploidy associated with arthrogryposis
T18
193
Most common sign/sx of arthrogryposis
lack of fetal movement
| abnormal extremity position on ultrasound
194
Dysplasias to think of with curved/angulated bones (5)
1. OI
2. Thanatophoric dysplasia
3. Campomelic dysplasia
4. Hypophosphatasia
5. Diabetic embryopathy
195
Dysplasia to think of with abnormal ossification
1. OI
2. Arthrogryposes, akinesia sequence
3. Achondrogenesis
4. Hypophosphatasia
196
How are the fetal o2 requirements met
1. increased maternal blood supply to placenta
2. increased fetal blood supply to placenta
3. Fetal Hgb has higher O2 affinity than maternal Hgb
4. Higher Hgb concentration in fetus
5. Double Bohr effect
197
% of neonatal HgF at term
80% of Hgb is HgbF
198
What does double Bohr effect mean -- ie how are the curves moving
The dissociation curve is happening in maternal and fetal circulations and moving opposite directions
199
pO2 for uterine and umbilical vessels
Uterine artery: 100mm Hg
Uterine vein: 50mmg Hg
Umbilical vein: 28mmg Hg
Umbilical artery: 18mm Hg
200
sO2 for uterine and umbilical vessels
Uterine artery: 98%
Uterine vein: 75%
Umbilical vein: 70%
Umbilical artery: 45%
201
pCO2 for uterine and umbilical vessels
Uterine artery: 32mmHg
Uterine vein: 45mmHg
Umbilical vein: 40mmHg
Umbilical artery: 50mm Hg
202
T/F: Progesterone levels can remain elevated for weeks following demise
True
203
Source of elevated maternal and fetal deoxycorticosterone levels
it is a metabolite of progesterone
204
Where is estrogen produced <7 weeks and > 7 weeks
CL until about 7 weeks then placenta takes over
205
where is most fetal plasma cholesterol made
de novo in fetal liver
206
does the fetus have high or low LDL plasma levels
Low --- being used up by adrenal gland
207
cause of elevated estrogen levels
hemolytic disease of newborn
208
What has higher risk of maternal mortality --- CHD or valvular heart disease
valvular heart disease
209
Valvular disease that carries the biggest potential risk in pregnancy
mitral stenosis
210
Inotropic medication that can directly decrease uterine blood flow
Dopamine (but paradoxically may increase flow if it improves maternal parameters)
211
Potential complication of severe pulmonary stenosis
right heart failure
212
4 things to avoid in mitral stenosis management
1. tachycardia
2. decreased SVR/hypotension
3. acute increased preload
4. increased pulmonary pressure (hypoxia)
213
If unrepaired ASD/VSD/PDA what are some things to avoid
anything that increase the left to right shunt
- -systemic hypertension
- -decreased pulmonary vasular resistance
- -SVT
214
What events cause increased pulmonary vascular resistance
Hypoxemia
Hypercarbia
Metabolic acidosis
Excess catecholamines
215
Patient population at increased risk of intracranial aneurysms
Aortic coarctation -- 10%
216
Complications in uncorrected coarctation
Hypertension
Coronary artery disease
Aortic dissection
Heart failure
217
Findings of TOF
1. VSD
2. Overriding aorta
3. RVOT obstruction
4. RVH
218
Most common cause of death with TOF
Sudden cardiac arrest and heart failure
219
Aortic root diameter in Marfans that is an indication for preconception repair
>45mm
220
3 major risk factors of MI
age >30
HTN
DM
221
when in respiratory cycle to take swan-ganz catheter measurements
end of expiration
222
Steroid enzyme absent in the fetus
3beta-OHSD
223
CAH is most commonly caused by defect in what enzyme
21-alpha hydroxylase
224
CAH leads to an increase in....
17OHP and androgens
225
Treatment for CAH in mother....CAH in fetus
Maternal - give hydrocortisone
Fetal - give dexamethasone starting at 7-8weeks, continue if female fetus
226
Supplements for women s/p bariatric surgery
```
B12
Folate
Iron
Vit D
Calcium
```
227
For cord blood gas, if left out for >20 minutes, will the pH be falsely low or falsely high
falsely low (falls 0.05 after 30 minutes)
228
Normal UA blood gas
pH - 7.27
pCO2 - 50
HCO - 22
Base excess - -2.7
229
UA blood gas <____ considered acidosis
7.0
230
UA cord gas, how to distinguish metabolic and respiratory acidosis
Metabolic - low pH, low HCO3
| Respiratory - low pH, normal HCO3
231
UA base deficit associated with adverse neonatal outcomes
>/= 12
232
Most common heart defect in DiGeorge
TOF
233
What causes volume exapnsion in pregnancy
peripheral vasodilation leads to activation of the renin-angiotensin-aldosterone system
234
Maternal/paternal risk of passing on balanced translocation
Maternal - 10-15%
| Paternal - 1-2%
235
what would an affected offspring of this parent be: 45, XX, der (21;22)
46, XX, der (21;22), +21
236
Microcytic anemia with High HgbA2
B-thal
237
Swan parameters that increase in pregnancy
CO, SV, HR
238
Swan parameters that decrease in pregnancy
SVR, PVR, colloid osmotic pressure
239
Swan parameters with no significant change
PCWP, central venous pressure, mean arterial pressure
240
Respiratory parameters that decrease in pregnancy
TLC
FRC
ERV
RV
241
Respiratory parameters that increase in pregnancy
TV
| IRV
242
Respiratory parameters with no change in pregnancy
Vital capacity
243
Sequence of loss of parameters in BPP
```
Breathing
FHR accels
Movement
Tone
Fluid
```
244
How does glucose cross the placenta
facilitated diffusion
245
How do Vitamins A/D/E/K cross placenta
simple diffusion
246
Typical fetal heart rates in cases of fetal SVT and fetal atrial flutter
SVT: 220-300
| Atrial flutter: 350-500
247
Recommended diet with diabetes
3 meals and 3 snacks
248
Caloric intake for diabetic women --- normal weight, obese weight
Normal - 30kcal/kg
Obese - 25kcal/kg
in general 2000-2400kcal
249
Diet composition for diabetics
Carbs - 40-50%
Protein - 20%
Fat - 30-40% (<10% saturated)
250
What epigenetic modification turns genes "off"
methylation
251
Define imprinting
Expression of a specific gene depends on the sex of the parent donating the gene
252
Cause of Prader-Willi Syndrome
Loss of the paternal copy of a critical region on Chromosome 15 (maternal uniparental disomy)
253
Cause of Angelmans syndrome
Loss of the maternal copy of a critical region on Chromosome 15 (paternal uniparental disomy)
254
Most likely cause of imprinting and risk of recurrence
```
random deletion (mostly)
<1% recurrence in siblings
```
255
Chromosome abnormalities can be either numerical or _____
structural
256
Most common chromosomal structural abnormalities
Translocations
Deletions
Inversions
257
What do the p-arms of acrocentric chromosomes contain
chromosomal satellites and code for ribosomal RNA's
258
of chromosomes in a balanced translocation
45
259
Average gene density
1 gene pere 50 kilobases
260
How do chromosome inversions happen
2 breaks on same chromosome -- the intervening segment rotates and reintegrates in an upside down position
261
Difference between paracentric and pericentric inversions
paracenteric - the inverted chromosome segment is located on one side of the centromere (ie only 1 arm), usually associated with infertility/miscarriages
pericentric - the inverted segment involves both chromosome arms and spans the centromere, increased risk of phenotypic abnormalities in offspring
262
Definition of macrodeletion
3-5 megabases
263
CAH leads to increased levels of what two hormones
17-OHP and androgens
264
What changes in oxyhemoblobin curves occur in mother and fetus
Mother - right shift favoring release of O2 at any pO2
| Fetus - left shift favoring high saturation at any pO2
265
What is the effect of 2,3-BPG on adult hemoglobin
Decreases the ability of adult hemoglobin to bind O2 (decreased O2 affinity)
266
T/F: fetal hemoglobin is unaffected by 2,3-BPG
True
267
X & Y axis of Bohr model
X axis: pO2
| y axis: % hemoglobin saturation
268
At the same pO2 does the fetus or mother have higher oxygen saturation
fetal
269
What is the Bohr effect
The ability of CO2 to effect the oxygen affinity of hemoglobin
270
Bohr effect in mother
Increase CO2 in mother from fetal offloading --> hemoglobin more likely to release oxygen
271
Bohr effect in fetus
Decreasing CO2 due to offloading to mother --> higher hemoglobin affinity for O2
272
3 things that favor movement of oxygen from maternal to fetal compartment
1. difference in pO2, creates gradient favoring fetal movement
2. fetal hemoglobin with higher affinity for oxygen than maternal hemoglobin
3. double bohr effect
273
What factors can cause a more right-shift of maternal oxyhemoglobin curve
High DPG
High temp
Low pH (acidosis)
274
Coagulation factors increased in pregnancy
Factors 7, 8, 9, 10, 12
vWF
Fibrinogen
275
Coagulation factors without change in pregnacny
Prothrombin
| Factor 5
276
DVT more likely in what leg
left
277
Function of Protein C and S
To prevent clot from propagating to normal endothelial tissue
278
Molecule in clotting cascade the cleaves fibrin
Plasmin
279
PT/PTT which clotting pathway is being tested
PT - extrinsic
| PTT - intrinsic
280
Factors in the intrinsic cascade
8, 9, 11, 12, PLTS
281
Clotting cascade, common pathway factors
Calcium, 5, 10
282
Dermatomal level needed for c-section
T4
283
At what CRL should midgut herniation not be seen
after 54mm it is suspicious
| after 61mm definitely abnormal
284
Time period in GA for ONTD exposure
21-28 days after conception
285
urogenital anomalies, upturned upper lip, clotting issues, macrocephaly, hypoplasia of nails/digits
fetal hydantion syndrome
286
Neonatal live vaccine in first 6 months of life, avoided with some IBD drugs
Rotavirus
