Written MFM Boards 2 Flashcards
Method to assess effect of different factors on survival
Cox regression
Reported neonatal toxicity with SSRI use
persistent pulmonary HTN (right-left shunting across ovale and PDA can lead to fetal hypoxia)
Rate limiting step in T3/T4 production
Trapping of Iodide in thyroid gland
What is function of TPO enzyme
Converts Iodide to Iodine in the thyroid gland
What is function of thyroglobulin
Stores T3 and T4 in thyroid gland
Thyroglobulin vs thyroid binding globulin
Thyroglobulin - stores T3/T4 in thyroid gland
TBG - protein that T3/T4 are bound to in serum
Type of receptor T3 and T4 bind to
Nuclear receptor
T3 affinity >T4
Most accurate thyroid testing in critically ill patients?
Free T4
What thyroid level is typically elevated in critical illness, as a result of physiology not pathology?
rT3
Thyroid hormone changes in pregnancy: TRH TSH Free T3/T4 Total T3/T4 Thyroid binding globulin
TRH/TSH - decreased
Free T3/T4 - same or marginally increased
Total T3/T4 - increase
TBG - increase
Enzymes (deiodinases) involved in peripheral conversion of T4–>T3
Type I - unchanged in pregnancy
Type II - in placenta, maintains local placental levels of T3
Type III - in placenta, makes rT3
Thyroid hormones that cross the placenta
T4
TRH
Thyroid hormone that does not cross placenta
TSH
Amniotic fluid levels of thyroid hormone are reflective of maternal or fetal thyroid serum levels
Fetal
What happens to neonatal thyroid levels following delivery and why?
transient hyperthyroxinemia – thought to help with thermoregulation
Anti-TPO but no overt hypothyroidism, at risk of what
Postpartum thyroiditis
Hypothyroidism
Iodine intake recommendation pregnancy/lactation
WHO - 250ug daily
ATA - 150ug daily
IOM - 220ug pregnancy and 290ug lactation daily
When is fetal TSH present? Fetal T3/T4?
TSH at 10-12 weeks as fetal thyroid can capture iodide, but not much T3/T4 until 18-20 weeks
How to test for iodine deficiency
Urine iodine levels:
24hr secretion >100ug intake is sufficient
<50ug moderate deficiency
Iodine deficiency can be exacerbated by what deficiency
Selenium
Pregnancy complications associated with hypothyroidism
Pregnancy loss Stillbirth LBW Preeclampsia Abruptions
When to test for thyroid stimulating antibodies in pregnancy
After 20 weeks, as high hCG can falsely low Ab
Hyperthyroidism treatment in pregnancy
1st tri: PTU, avoid long term use hepatotoxicity
2nd/3rd tri: MMI, avoid in 1st tri because of choanal atresia, aplasia cutis, TE fistula
PTU:MMI dose equivalents
20:1
Fetal hypothyroid signs
Goiter
Bradycardia
Growth restriction
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
Fetal hyperthyroidism symptoms
Goiter Tachycardia Advanced bone age Hydrops Craniosynostosis Growth restriction
Clinical manifestations of thyroid storm
- Thermoregulatory dysfunction
- CNS effects: agitation, delirium, coma
- GI dysfunction
- CV dysfunction: tachycardia, arrhythmia
Lab value predictive of high risk fetal hyperthyroidism
> 300% TSI
Protocol for Thyroid Storm treatment
- B-blocker
- PTU
- 1 hr after PTU given Potassium Iodide
- Dexamethasone
Congenital myotonic dystrophy inheritance pattern
AD - trinucleotide repeat
Ultrasound findings of congenital myotonic dystrophy
Polyhydramnios DFM PTB FGR Club foot
Pathophysiology of TTP
Platelet aggregates form leading to micro-occlusion of vessels
Vessels predominately effected by TTP
Brain and kidney
Classic pentad of clinical findings in TTP
- Fever
- Kidney damage
- Neuro dysfunction
- Hemolytic anemia
- Thrombocytopenia
**Anemia, thrombocytopenia and neuro changes are most common
TTP caused by antibodies to
ADAMTS-13
Serum finding that can aid in differentiating HELLP and TTP
antithrombin III level decreased in HELLP
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
Treatment for refractory TTP
Vincristine
Azathioprine
Splenectomy
Lab values to help differentiate between HUS/TTP and AFLP
AFLP - decrease antithrombin III and coagulopathy
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
Bacterial enzyme linked to preterm labor
Phospholipase A2
List fetal organs that receive most cardiac output
- placenta
- lower body
- upper body
- lungs
- GI tract
- Heart/brain/kidneys
- Liver
- Spleen
- Adrenas
Part of fetal heart with highest PO2
Left atrium
Po2 values of umbilical artery and vein on cord gases
vein = 28-32 artery = 19
Warfarin embryopathy risk is highest at what GA
6-12 weeks
Risk of congenital anomaly when Hgb A1c < or > 8.5%
<8.5% –> 3% risk
>8.5% –> 22% risk
Causes of low estriol (2)
- X-linked ichthyosis: due to placental sulfatase deficiency
- SLOS: due to mutation in 3-betaOH-7-dehydrocholesterol reductase
Clinical findings of SLOS
Polydactyly/Syndactyly Microcephaly FGR Cleft lip/palate Ambiguous genitalia
Level of what protein is elevated in SLOS? What is low?
7-DHC levels in amniotic fluid
Cholesterol levels are low
Aneuploidies associated with low PAPP-A
T21 and T18 (very low)
OB complications associated with low PAPP-A
pre-eclampsia FGR PTB SAB IUFD
AFP made by what structures
Yolk sac
Fetal GI tract
Fetal liver
Causes of elevated MSAFP
- Fetal anomaly - ONTD, abdominal wall defect
- Congenital nephrosis
- Teratomas
- Incorrect dating
- Multifetal gestation
- Fetal death
- PAS
How do the following affect MSAFP levels
- weight
- DM
- Race
- GA
- larger weight means lower MSAFP (more diluted)
- DM have lower MSAFP
- Black women have higher MSAFP
- Increase in MSAFP with increasing GA
OB complications associated with elevated MSAFP
FGR Preeclampsia PTB IUFD Abruption
Serum screening results in T21
PAPP-A, Estriol, AFP - low
bHCG, Inhibin - high
CRL limits for NT measurement
45-84mm
1st trimester serum markers
PAPP-A and b-hCG
2nd trimester serum markers
b-hCG
Inhibin A
Estriol
AFP
Soft markers with highest to lowest LR for aneploidy
- Nuchal fold
- Absent nasal bone
- Echogenic bowel
- Short humerus
- Short femur
- Echogenic intracardiac focus
- UTD
- CPC
Causes of low estriol on serum screening
T21
T18
Sulfatase deficiency
SLOS
To make it a quad screen which serum analyte is added
Inhibin A
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
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
What MoM of PAPP-A levels have highest association with placental insufficency
at or below 0.2
OB complications associated with high Inhibin A
Preeclampsia
FGR
IUFD
PTB
What does high hCG and high MSAFP indicate
Associated with OB complications
Confined placental mosaicism for T16
Carrier frequency for CF, SMA (white)
CF - 1:25
SMA - 1:50
Gene that causes SMA
SMN1
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
What race has higher cis-carrier rate of SMN1
Blacks
Osteogenesis imperfecta is caused by what type of genetic mutation
AD mutation in Col1A
Achondroplasia is caused by what type of genetic defect
AD condition, mutation in FGFR3
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
What structures produce adipokines
Adipose tissue
Placenta
Leptin/Adiponectin — which is proinflammatory?
Leptin
In obesity what happens to Leptin/Adiponectin
Leptin – increases
Adiponectin – decreases
Elevated Leptin levels in pregnancy are associated with what OB complications
GDM
pre-eclampsia
Hormones regulating Calcium homeostasis
PTH – stimulates bone resorption
Vitamin D – stimulates GI absorption and bone resorb
Vit D IU recommendation in pregnancy/lactation
600IU
What hormone produced by breasts help increase Ca levels for lactation
PTHrp
T/F: placenta makes PTHrp
True
Clinical sx of hyperparathyroidism
Stones Weakness Peptic ulcers Pancreatitis Constipation Anorexia Nausea/vomiting HTN Depression/Psychosis
Diff dx of hypercalcemia
Hyperparathyroidism - secreting nodule Malignancy Granulomatous disease Thyrotoxicosis Hypervitaminosis D or A
Neonatal complications of maternal hyperparathyroidism
Neonatal hypocalcemia and tetany
SAB and stillbirth
Medical management of hyperparathyroidism
Hydration Lasix Phosphates Calcitonin Bisphosphonates (not used in pregnancy)
Clinical sx of hypoparathyroidism
Tetany
Paresthesia
Mental changes
QT prolongation
Neonatal complications of maternal hypoparathyroidism
Bone demineralization
FGR
Neonatal hyperparathyroidism
Type of cells that make up 40% of the decidua
NK cells
Cells of pregnancy that do NOT have MHC class I molecules (HLA)
Syncytiotrophoblast
OB complications in IBD
SGA
PTB
Cesarean
Stillbirth
T/F: IBD tends to stay the same in terms of activity during pregnancy as it was pre-pregnancy
True
Possible side effects of prolonged steroid use
PPROM
GDM
Cleft palate
Women on Sulfasalazine should be advised to take what preconception and continue throughout pregnancy
Folic acid 2mg (x1 month preconception)
Risk of child having IBD if one or two parents have IBD
1 - 5%
2 - 30%
If someone presents with symptoms of IBD flare, important to rule out what as well
C. diff
T/F: Pregnancy can lead to decreased flares postpartum and longer term in IBD
True
Abxs of choice for endocarditis prophylaxis
Ampicillin
Ceftriaxone
Clindamycin
IV drug use is associated with endocarditis of which valve
Tricuspid valve
Major and minor criteria for infective endocarditis
Major – +blood cultures or vegetation in imaging
Minor – predisposing condition, fever, vascular phenomena, immunologic phenomena
Definite endocarditis is defined as what based on modified Duke
- 2 major
- 1 major and three minor
- 5 minor
2 major functions of adiponectin
- insulin sensitization
2. anti-inflammatory properties
Conditions that low adiponectin levels are seen in
Obesity
DM
Metabolic syndrome
Most common (2) antigens causing alloimmunization
- Rh (D)
2. Kell
Sommatomamotropin levels are ____ in SGA and LGA pregnancies
Decreased in SGA
Increased in LGA
Are Ghrelin levels high or low in obese women
Low
Does Ghrelin stimulate or suppress appetite
stimulate appetite
What happens to Ghrelin levels over the course of pregnancy
Ghrelin levels high in 1st trimester and decreases over gestation
What happens to Leptin levels in pregnancy
Steadily increase
Conditions associated with high Leptin
Obesity
DM
GDM
Preeclampsia
OB complication associated with decreased adiponectin
LGA
Risk of Rh (D) alloimmunization after 1st pregnancy
~1%
Without Rhogam what % of Rh negative women will become sensitized
17%
Rhogam 300ug protects against how much fetal blood/RBC’s
30uL of whole blood or 15mL of RBCs
Rh (D) critical titer
> 1:16
Typical drop in Hct following fetal transfusions
1 point/day post-transfusion
What is responsible for Na urinary excretion?
ANP
What is responsible for urine Na retention
Aldosterone
Congenital heart disease not usually associated with genetic syndrome
Heterotaxy
Transposition
Congenital heart disease with highest rate of associated aneuploidy
AV canal defect
Genetic disorders associated with fetal TOF
T21
DiGeorge
Genetic syndrome associated with truncus arteriosus
22q11 deletion
Folic acid supplementation recommendations:
(a) sickle cell
(b) twins
(c) singletons
(d) epilepsy
(a) 4-5mg/day
(b) 1mg
(c) 400ug
(d) 4mg
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
Latent TB treatment in pregnancy regimen
INH 300mg daily for 3-6 months
Active TB in pregnancy treatment regimen
Same as non-pregnant
First 2 months: INH + rifampin + pyrazinamide + ethambutol
Next 4 months: INH + rifampin
Medication that should be used as adjunct to INH
B6 – because INH can interfere with B6 metabolism
INH side effect and how its monitored
Hepatitis – check LFTs and bilirubin prior to treatment and then monthly
Why is active TB treatment 2-parts?
1st part = kill active organisms
2nd part = microbiologic cure
TB drug treatment that is contraindicated in pregnancy
Streptomycin – associated w/ hearing loss
pH of breast milk
7.0
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
Most common valvular problem in chronic rheumatic heart disease
Mitral stenosis followed by aortic stenosis and aortic regurgitation
Late valvular manifestation of chronic rheumatic disease
tricuspid regurgitation – secondary to right heart failure
Inheritance of hypertrophic cardiomyopathy
AD, variable penetrance
Anti-seizure meds that may worsen muscle weakness in Myasthenia Gravis
Phenytoin (Dilantin)
Abx that can potentiate Magnesium neuroblockade
Gentamicin
GA most asthma exacerbations occur
24-36 weeks
Does FEV1 or PEF change in pregnancy
No
Normal range of PEF
380-550L/min
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
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
Trisomy 13 findings
Holoprosencephaly Micro/anopthalmia Cardiac defects -- HLHS Enlarged echogenic kidneys Postaxial polydactyly FGR
What % difference between pre and post-ductal neonatal O2 saturation is abnormal
10%
What does a difference in pre and post ductal O2 saturation in neonates indicate
Right to left shunting
What is TTN caused by
Continued lung fluid in the parenchyma
What is genetic anticipation
phenotype get more severe and/or presents at a younger age with each generation
How does cAMP lead to smooth muscle relaxation
cAMP is a second messenger that functions to reduce intracellular Calcium in smooth muscle cells
Periventricular leukomalacia most common in what infection
Chorioamnionitis
Advantages of delayed cord clamping in term neonate
Increased iron stores
Higher Hgb levels
Disadvantages of delayed cord clamping
Increased risk of hyperbilirubinemia, polycythemia (SGA infants), reduced volume of umbilical blood available for harvesting
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
Risk factors for spina bfida
Folate deficiency Pregestational DM Obesity Fever/hyperthermia Epilepsy
Autoimmune med associated with 25% teratogenicity risk
Mycophenolate – ear, eye lip/palate abnormalities
True/False: Mitral/Aortic stenosis should be kept wet
True
Infectious disease associated with placentomegaly and pale placenta
Syphilis
Dermatoses associated with adverse fetal outcomes
Pustular psoriasis
Pemphigoid gestationalis
Maternal congenital cardiac disease with highest risk of same cardiac disease in fetus
- Aortic Stenosis
2. AVSD
Chance of fetal congenital heart disease with affected sibling
3%
Chance of recurrent HLHS with affected sibling
8%
Lupus flare associated with _____ levels of complement
low
WBC count in lupus flare can be _____
low or normal
Rising dsDNA may be a sign of
lupus flare
Drug class of Terbutaline and MOA
Betamimetic, increase cAMP which causes a decrease in intracellular calcium leading to smooth muscle relaxation
What femur length:foot length ratio suggests skeletal dysplasia
<1
Measurements in skeletal dysplasia that suggest lethality
Femur length: AC <0.16
Chest circumference: AC <0.8
Skeletal dysplasia with absent scapula
Campomelic dysplasia
Dysplasia with absent or hypoplastic clavicles
Cleidocranial dysplasia
Main characteristics of achondrogenesis
- severe micromelia
- unossified spine
- short trunk w/ large head
lethal
Most common heritable, nonlethal skeletal dysplasia
Achondroplasia
Main manifestations of achondroplasia
- Rhizomelia
- Frontal bossing
- Midface hypoplasia
- Short digits w/ Trident hand
Disorders associated with FGFR3 mutations
Achondroplasia
Hypochondroplasia
Thanatophoric dysplasia
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)
Cases of recurrent tetra-amelia (missing all 4 limbs) has occured _____
in consanguineous families
What is Roberts syndrome
AR – associated with tetraphocomelia and facial clefts
Cytogenetic analysis shows centrometric separation or “puffing” – pathognomic
Main characteristics of campomelic dysplasia
- bowed femur/tibiae
- hypoplastic scapula
- disorder of sex development
Most are lethal
Main characteristics of cleidocranial dysplasia
- wide cranial sutures
- hypomineralization of skull
- absent clavicles
- dental abnormalities
Main characteristics of hyphosphatasia
- micromelia
2. undermineralization (moth eaten appearance)
Main characteristics of OI
- fetal fractures – bone angulation, crumpled appearance, beading of ribs
- bone fragility - compression of skull with US probe
- wormian bones
OI type that is perinatally lethal
Type II
Short rib-polydactyly syndromes are due to what underlying pathology
primary ciliary dyskinesia
Skeletal dysplasia that can be associated with echogenic dysplastic kidneys
Short rib-polydactyly syndromes
Main characteristics of Thanatophoric dysplasia
- Micromelia with bowing
- Telephone receiver femur (type I)
- Cloverleaf skull (type II)
- Macrocephaly
- Trident shaped hands
- Small chest
T/F: clubfoot more likely to be bilateral
True, 60-70%
Genetic associations with Rocker-Bottom feet (most–> lest)
T18 > T13 > T15 (rare)
Main characteristics of radial ray malformation
- absent radius
- radial deviation of hand
- absent or abnormal thumb
Differential dx of radial ray malformations (6)
- T18
- Holt-Oram
- TAR
- Fanconi anemia
- Valproate syndrome
- VATER/VACTERL
Holt-Oram main findings
- Cardiac septal defects
2. Radial ray malformation
Main characteristics of Meckel-Gruber Syndrome
- Cystic renal dysplasia
- postaxial polydactyly
- posterior encephalocele
Most common aneuploidy with polydactyly
T13
Associated with pre-axial polydactyly
Diabetic embryopathy
Most common aneploidy associated with arthrogryposis
T18
Most common sign/sx of arthrogryposis
lack of fetal movement
abnormal extremity position on ultrasound
Dysplasias to think of with curved/angulated bones (5)
- OI
- Thanatophoric dysplasia
- Campomelic dysplasia
- Hypophosphatasia
- Diabetic embryopathy
Dysplasia to think of with abnormal ossification
- OI
- Arthrogryposes, akinesia sequence
- Achondrogenesis
- Hypophosphatasia
How are the fetal o2 requirements met
- increased maternal blood supply to placenta
- increased fetal blood supply to placenta
- Fetal Hgb has higher O2 affinity than maternal Hgb
- Higher Hgb concentration in fetus
- Double Bohr effect
% of neonatal HgF at term
80% of Hgb is HgbF
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
pO2 for uterine and umbilical vessels
Uterine artery: 100mm Hg
Uterine vein: 50mmg Hg
Umbilical vein: 28mmg Hg
Umbilical artery: 18mm Hg
sO2 for uterine and umbilical vessels
Uterine artery: 98%
Uterine vein: 75%
Umbilical vein: 70%
Umbilical artery: 45%
pCO2 for uterine and umbilical vessels
Uterine artery: 32mmHg
Uterine vein: 45mmHg
Umbilical vein: 40mmHg
Umbilical artery: 50mm Hg
T/F: Progesterone levels can remain elevated for weeks following demise
True
Source of elevated maternal and fetal deoxycorticosterone levels
it is a metabolite of progesterone
Where is estrogen produced <7 weeks and > 7 weeks
CL until about 7 weeks then placenta takes over
where is most fetal plasma cholesterol made
de novo in fetal liver
does the fetus have high or low LDL plasma levels
Low — being used up by adrenal gland
cause of elevated estrogen levels
hemolytic disease of newborn
What has higher risk of maternal mortality — CHD or valvular heart disease
valvular heart disease
Valvular disease that carries the biggest potential risk in pregnancy
mitral stenosis
Inotropic medication that can directly decrease uterine blood flow
Dopamine (but paradoxically may increase flow if it improves maternal parameters)
Potential complication of severe pulmonary stenosis
right heart failure
4 things to avoid in mitral stenosis management
- tachycardia
- decreased SVR/hypotension
- acute increased preload
- increased pulmonary pressure (hypoxia)
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
What events cause increased pulmonary vascular resistance
Hypoxemia
Hypercarbia
Metabolic acidosis
Excess catecholamines
Patient population at increased risk of intracranial aneurysms
Aortic coarctation – 10%
Complications in uncorrected coarctation
Hypertension
Coronary artery disease
Aortic dissection
Heart failure
Findings of TOF
- VSD
- Overriding aorta
- RVOT obstruction
- RVH
Most common cause of death with TOF
Sudden cardiac arrest and heart failure
Aortic root diameter in Marfans that is an indication for preconception repair
> 45mm
3 major risk factors of MI
age >30
HTN
DM
when in respiratory cycle to take swan-ganz catheter measurements
end of expiration
Steroid enzyme absent in the fetus
3beta-OHSD
CAH is most commonly caused by defect in what enzyme
21-alpha hydroxylase
CAH leads to an increase in….
17OHP and androgens
Treatment for CAH in mother….CAH in fetus
Maternal - give hydrocortisone
Fetal - give dexamethasone starting at 7-8weeks, continue if female fetus
Supplements for women s/p bariatric surgery
B12 Folate Iron Vit D Calcium
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)
Normal UA blood gas
pH - 7.27
pCO2 - 50
HCO - 22
Base excess - -2.7
UA blood gas <____ considered acidosis
7.0
UA cord gas, how to distinguish metabolic and respiratory acidosis
Metabolic - low pH, low HCO3
Respiratory - low pH, normal HCO3
UA base deficit associated with adverse neonatal outcomes
> /= 12
Most common heart defect in DiGeorge
TOF
What causes volume exapnsion in pregnancy
peripheral vasodilation leads to activation of the renin-angiotensin-aldosterone system
Maternal/paternal risk of passing on balanced translocation
Maternal - 10-15%
Paternal - 1-2%
what would an affected offspring of this parent be: 45, XX, der (21;22)
46, XX, der (21;22), +21
Microcytic anemia with High HgbA2
B-thal
Swan parameters that increase in pregnancy
CO, SV, HR
Swan parameters that decrease in pregnancy
SVR, PVR, colloid osmotic pressure
Swan parameters with no significant change
PCWP, central venous pressure, mean arterial pressure
Respiratory parameters that decrease in pregnancy
TLC
FRC
ERV
RV
Respiratory parameters that increase in pregnancy
TV
IRV
Respiratory parameters with no change in pregnancy
Vital capacity
Sequence of loss of parameters in BPP
Breathing FHR accels Movement Tone Fluid
How does glucose cross the placenta
facilitated diffusion
How do Vitamins A/D/E/K cross placenta
simple diffusion
Typical fetal heart rates in cases of fetal SVT and fetal atrial flutter
SVT: 220-300
Atrial flutter: 350-500
Recommended diet with diabetes
3 meals and 3 snacks
Caloric intake for diabetic women — normal weight, obese weight
Normal - 30kcal/kg
Obese - 25kcal/kg
in general 2000-2400kcal
Diet composition for diabetics
Carbs - 40-50%
Protein - 20%
Fat - 30-40% (<10% saturated)
What epigenetic modification turns genes “off”
methylation
Define imprinting
Expression of a specific gene depends on the sex of the parent donating the gene
Cause of Prader-Willi Syndrome
Loss of the paternal copy of a critical region on Chromosome 15 (maternal uniparental disomy)
Cause of Angelmans syndrome
Loss of the maternal copy of a critical region on Chromosome 15 (paternal uniparental disomy)
Most likely cause of imprinting and risk of recurrence
random deletion (mostly) <1% recurrence in siblings
Chromosome abnormalities can be either numerical or _____
structural
Most common chromosomal structural abnormalities
Translocations
Deletions
Inversions
What do the p-arms of acrocentric chromosomes contain
chromosomal satellites and code for ribosomal RNA’s
of chromosomes in a balanced translocation
45
Average gene density
1 gene pere 50 kilobases
How do chromosome inversions happen
2 breaks on same chromosome – the intervening segment rotates and reintegrates in an upside down position
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
Definition of macrodeletion
3-5 megabases
CAH leads to increased levels of what two hormones
17-OHP and androgens
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
What is the effect of 2,3-BPG on adult hemoglobin
Decreases the ability of adult hemoglobin to bind O2 (decreased O2 affinity)
T/F: fetal hemoglobin is unaffected by 2,3-BPG
True
X & Y axis of Bohr model
X axis: pO2
y axis: % hemoglobin saturation
At the same pO2 does the fetus or mother have higher oxygen saturation
fetal
What is the Bohr effect
The ability of CO2 to effect the oxygen affinity of hemoglobin
Bohr effect in mother
Increase CO2 in mother from fetal offloading –> hemoglobin more likely to release oxygen
Bohr effect in fetus
Decreasing CO2 due to offloading to mother –> higher hemoglobin affinity for O2
3 things that favor movement of oxygen from maternal to fetal compartment
- difference in pO2, creates gradient favoring fetal movement
- fetal hemoglobin with higher affinity for oxygen than maternal hemoglobin
- double bohr effect
What factors can cause a more right-shift of maternal oxyhemoglobin curve
High DPG
High temp
Low pH (acidosis)
Coagulation factors increased in pregnancy
Factors 7, 8, 9, 10, 12
vWF
Fibrinogen
Coagulation factors without change in pregnacny
Prothrombin
Factor 5
DVT more likely in what leg
left
Function of Protein C and S
To prevent clot from propagating to normal endothelial tissue
Molecule in clotting cascade the cleaves fibrin
Plasmin
PT/PTT which clotting pathway is being tested
PT - extrinsic
PTT - intrinsic
Factors in the intrinsic cascade
8, 9, 11, 12, PLTS
Clotting cascade, common pathway factors
Calcium, 5, 10
Dermatomal level needed for c-section
T4
At what CRL should midgut herniation not be seen
after 54mm it is suspicious
after 61mm definitely abnormal
Time period in GA for ONTD exposure
21-28 days after conception
urogenital anomalies, upturned upper lip, clotting issues, macrocephaly, hypoplasia of nails/digits
fetal hydantion syndrome
Neonatal live vaccine in first 6 months of life, avoided with some IBD drugs
Rotavirus