2014 - Final XLS in CSV form - Sheet1 Flashcards
If the disease frequency for PKU is 1/10,000 what is the carrier frequency?
PKU is AR, q^2 = 1/10,000 so q = 1/100 and carrier frequency is 2pq = 2 * 1 * 1/100 = 1/50
Freq of an autosomal recessive disease is 1/6400, what is the carrier frequency?
q² = 1/6400
q = 1/80
2pq = 2 x 1/80 = 1/40
A woman has recurrent SABs, her karyotype reveals a balanced translocation. Phenotypic trisomy 21 will be present in what percentage of subsequent surviving pregnancies?
1/6 = 16.7% of all gametes
1/3 if only living child
What is the most common fetal anaomaly in obese patients?
Neural tube defects / Spina Bifida
Most likely diagnosis of echogenic bowel at 20 weeks?
Normal
What confers the worst neonatal prognosis in CMV?
Microcephaly
Patient with 8 week IUP has IUD in place, develops fever, chills, abdominal pain. What should you do next?
- Remove IUD, then evaluate for other causes of abdominal pain / fever and check for signs of septic abortion.
What is the most likely complication of pregnancy conceived with IUD in place?
SAB - 3x more likely (50%)
Which HIV drug should you avoid in first trimester?
Efavirenz due to concern for NTD
Which ashkenazi disease is treatable with enzyme replacement?
Gauchers
Which of the following fetal cardiac anomaly is least likely to result in a critically ill newborn? TGA HLHS AVSD TOF w pulm atresia
AVSD
TTTS is best diagnosed with a discrepency in what ?
Amniotic fluid volumes
Which fetal anomaly has highest risk of malignancy?
CCAM (Pleuropulmonary blastoma and bronchoalveolar carcinoma )
Smoking is least likely associated with an incease in which pregnancy associated condition?
Preeclampsia
Which complication is not associated with SSRI use in pregnancy?
Gastroschisis
Which ultrasound finding in gastroschisis is most associated with intestinal atresia ?
Bowel dilation (>14mm strongly predicts atresia)
Which cells are the innate immune cells?
Which are the adaptive immune cells?
Innate: NK, Monocytes, macrophages, trophoblasts
Adaptive: B cells and T cells
What factors are most important in oxygen delivery to tissue?
CO x PaO2 (Oxygen delivery = CO x arterial oxygen content )
What does a class 1 MHC get attacked by?
Cytotoxic T cells
Very Low Estriol levels are most commonly associated with what?
Placental Sulfatase Deficiency, X linked icthyoses, SLOS
What is the treatment for NAIT?
IVIG
What is mode of inheritene of IHSS?
Hypertrophic cardiomyopathy is also called IHSS.
Autosomal Dominant
Short bent femurs, humerus, radii, and thoracic circumference <5%. Normal ossification of cranuim and spine. What is the most likely diagnosis?
Thanatophoric Dysplasia
How does dialysis change with pregnancy?
- Longer sessions
- More frequent sessions
- Add less calcium to dialysate
- Add more HCO3 to dialysate
Longer sessions
What enable increased fetal calcium?
Increased intestinal absorption of calcium from mother
Why does creatinine decrease in pregnancy?
Increased renal perfusion and renal plasma flow (GFR)
What represents a thyroid profile of first trimester?
TSH decreases slightly
FT4 remains same
What is least commonly seen in fetal alcohol syndrome? SUA IUGR midface hypoplasia renal dysplasia MR
Single Umbilical artery
Low level of which hormone is most associated with placental insufficiency?
low PAPP-A
What is FGR at 20 weeks most associated with?
Triploidy, If >26 weeks probably Trisomy 18
What is the most common aneuploidy found in first trimester abortions?
Trisomy 16
What is the gestational age at which fetal lung alveolarization occurs?
36 weeks
What is the major component of surfactant?
Phosphotidylcholine
Which stage of lung development is surfactant produced?
Saccular phase
Which disease is most transmittable in breastfeeding?
CMV
In what setting is Down Syndrome most likely?
- brachycephaly
- Hypoplasia of mid phalangeal joint of 5th digit
- normal humerus
Hypoplasia of the midphalanx of the fifth digit
What condition results from pituitary deficiency? acromegaly diabetes insipidus addisons cushings
Diabetes Insipidus (Decreased ADH from Posterior pituitary)
What is the Barker hypothesis on fetal programming saying for IUGR fetuses?
They will develop Type 2 Diabetes later in life or metabolic syndrome
What is the most important factor affecting Positive Predictive Value?
Prevalence of disease
What is the least common with myxedema? hypothermia hypoglycemia bradycardia hypocapnia
Hypocapnea
In Myxedematous coma patients have (Low blood sugar, low blood pressure, hyponatremia, hypercapnia, hypoxia, slowed heart rate, and hypoventilation)
What is the best way to test for a fetus having CAH?
Direct gene testing
Which PG is not associated with labor? PGE 1 PGE 2 PGE 3 prostacyclin thromboxane
Prostacyclin
If a patient tests IgM positive at 20 weeks for parvovirus, how long should the pregnancy be monitored?
Serial ultrasound should be performed every 1-2 weeks after exposure for 8-12 weeks. (Peak hydrops risk as at 4-6 weeks after maternal infection)
What is the #1 cause of low maternal estriol?
Placental sulfatase deficiency , SLOS, X linked Icthyoses
What is the main source of estriol?
C19 adrenal steroids (DHEAS from fetal adrenals)
Which artery most likely to cause vulvar hematoma?
Branches of pudendal artery
When you open the broad ligament, where is the ureter located?
Crosses over the common iliac artery
What is the most likely diagnosis if NT > 4mm?
45X - Turners , most common with very increased NT
Pfannestial incision opening rectus muscles, what vessels are most likely injured?
Epigastric vessels
Which medication increases cardiac contractility?
Beta agonist
Which medication increases cardiac output when preload and afterload are optimized?
Dobutamine (B agonist)
How can you distinguish preeclampsia from lupus flare?
Increased Urine Sediment, Decreased CH50 activity, Anti DsDNA
How would you investigate whether there is an association between smoking and bladder cancer?
Case control study (Compares a group with disease to a group without and looks back at risk factor)
Maternal blood comes into direct contact with what?
Syncytiotrophoblasts
Which rash is associated with the worst fetal/neonatal outcomes?
Pemphigoid AKA Herpes Gestationalis
Discussion of mode of delivery in a pregnancy with a lethal anomaly involves which ethical principal?
Autonomy
When can a physician override refusal of treatment?
Lack of capacity
What is the first line medication when there is uterine inversion?
Terbutaline , second line Nitroglycerine
When a CVS result is mosaic, what is the most likely outcome?
Confined placental mosaicism
Which anesthetic has the fastest onset of action?
Lidocaine
In TRAP what is found in the acardiac twins’s Dopplers?
Pulsatile flow in UA
Continuous flow in UV
After an overnight fast, what is most likely decreased in the morning?
Glucose
What lab value are features of DKA?
PH: <7.3
HCO3: <15
AG: >12
+Ketones
If O2 is decreased, which fetal organ gets less blood flow? Lungs Brain Adrenals Myocardium
Lungs,
Fetus will maintain flow to Brain and Adrenals and Myocardium
Which medicine is NOT associated with PPHN?
Keppra, NSAIDs, SSRIs
Keppra
What is the most common enzyme deficiency in CAH?
21 α Hydroxylase deficiency
What is MOA of iodine in maternal thyroid function?
Blocks release of thyroid hormone from the gland
What Ultrasound finding is agenesis of the corpus callosum most associated with?
Absent CSP
Also colpocephaly
What is the most common location of an arachnoid cyst?
Middle Cranial Fossa
The 4 chamber view is not sensitive for detecting which cardiac anomaly? HLHS TGA Ebsteins Anomaly VSD
Transposition of great arteries (also bad for Coarctation)
Which fish should be avoided in pregnancy?
King Mackeral
Which disease is NOT associated with relapsing/remitting fevers? Brucella Lyme Malaria Listeria
Listeria
Why does NPH stay longer in body than aspart?
Increased halflife due to protamine and pH
What does wedge pressure represent?
LV preload
Which coagulation factor is decreased in pregnancy?
Protein S, Factor XI, Factor XIII, Platelets
Which cytokine is anti-inflammatory?
IL-10
Which condition does plasmapheresis treat?
TTP
What nerve causes foot drop?
Common peroneal
What nerve injury causes decreased labial sensation?
Illioinguinal
Which nerve injury causes decreased mons sensation?
iliohypogastric