2014 - Final XLS in CSV form - Sheet1 Flashcards by Jay Barrow

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

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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

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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

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What is the most common fetal anaomaly in obese patients?

Neural tube defects / Spina Bifida

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Most likely diagnosis of echogenic bowel at 20 weeks?

Normal

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What confers the worst neonatal prognosis in CMV?

Microcephaly

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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.

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What is the most likely complication of pregnancy conceived with IUD in place?

SAB - 3x more likely (50%)

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Which HIV drug should you avoid in first trimester?

Efavirenz due to concern for NTD

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Which ashkenazi disease is treatable with enzyme replacement?

Gauchers

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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

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TTTS is best diagnosed with a discrepency in what ?

Amniotic fluid volumes

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Which fetal anomaly has highest risk of malignancy?

CCAM (Pleuropulmonary blastoma and bronchoalveolar carcinoma )

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Smoking is least likely associated with an incease in which pregnancy associated condition?

Preeclampsia

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Which complication is not associated with SSRI use in pregnancy?

Gastroschisis

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Which ultrasound finding in gastroschisis is most associated with intestinal atresia ?

Bowel dilation (>14mm strongly predicts atresia)

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Which cells are the innate immune cells?

Which are the adaptive immune cells?

Innate: NK, Monocytes, macrophages, trophoblasts

Adaptive: B cells and T cells

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What factors are most important in oxygen delivery to tissue?

CO x PaO2 (Oxygen delivery = CO x arterial oxygen content )

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What does a class 1 MHC get attacked by?

Cytotoxic T cells

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Very Low Estriol levels are most commonly associated with what?

Placental Sulfatase Deficiency, X linked icthyoses, SLOS

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What is the treatment for NAIT?

IVIG

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What is mode of inheritene of IHSS?

Hypertrophic cardiomyopathy is also called IHSS.

Autosomal Dominant

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Short bent femurs, humerus, radii, and thoracic circumference <5%. Normal ossification of cranuim and spine. What is the most likely diagnosis?

Thanatophoric Dysplasia

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How does dialysis change with pregnancy?

Longer sessions
More frequent sessions
Add less calcium to dialysate
Add more HCO3 to dialysate

Longer sessions

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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? 1. brachycephaly 2. Hypoplasia of mid phalangeal joint of 5th digit 3. 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