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62 Cards in this Set
- Front
- Back
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Review of Systems: Head
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Ask Questions about
Size Shape Do they look like family members? |
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Review of Systems: Eyes
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Ask Questions about
Vision Loss Color Spacing |
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Review of system: Ears
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Ask Questions about
structure hearing loss |
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Review of Systems: Hair
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Ask Questions about
fine coarse sparse present color |
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Review of Systems: Teeth
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Ask Questions about
Extra missing shape |
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Review of Systems: Skeletal
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Tall
Short Scoliosis Fractures Bone Shape Pectus Excavatum or Carinatum Laxity |
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Review of Systems: Skin
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Lumps, Bumps, Birthmarks bruising, scarring,Fingernails (shape, growth)
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Review of Systems: Cardiac
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Heart disease, murmur, blood pressure, surgeries
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Review of Systems: GI, Renal, Hematologic
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Bleeding, Clotting Issues, Skin healing issues, anemia, kidney disease, GI disorders
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Review of Systems: Endocrine, Immune, Reproductive
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Thyroid, diabetes, obesity, anorexia, infertility, multiple miscarriages
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Review of Systems: Neurological/ Neruomuscular
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Weakness, ataxia, strokes, seizures, tics uncontrolled movement
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Review of Systems: Mental
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Learning Disability, Learning Disability + Dysmorphology, Depression, Anxiety, Autism, Mental Illness
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Review of Systems: Personal History
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Occupation, exposure to drugs, medications, alcohol
Make sure to ask: which drug, why, when did you take, how much (suggest a high amount) how long |
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What is a Genogram?
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a Multigenerational family tree used to graphically record information about medical history, relationships and psychosocial issues developed by Monica McGoldrick
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How do Genograms differ from Pedigrees? (4)
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Can include non-relatives
Legal relationships are delineated social problems and family stressors are included pets and significant objects could be recorded |
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What are some limitations and issues related to Genograms? (3)
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Subjective, time sensitive, awareness/standardization
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What are some virtues related to Genograms? (4)
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Concise
easy to read Therapeutic intervention Graphic representation of the family |
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Abnormal White Blood Cells (WBC) per unit volume indicate (3)
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risk for infection
leukeia autoimmune disease |
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Alpha Thalassemia Definition
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defect in the production of alpha globin chains, most common in Asians/Africans
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Alpha Thalassemia Characteristics (4)
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Located on Chromosome 16
Low MCV Low MCH Low Hb Low TIBC |
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Beta Thalassemia Definition
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Defect in production of beta globins—most common in Mediterranean region
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Beta Thalassemia Characteristics (5)
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Located on Chromosome 11
Carriers make ½ as much beta-globin Low MCV Low MCH low Hb with altered ratios |
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Hemoglobin electrophoresis will detect
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Sickle cell (HbS)
HbC Elevation of fetal hemoglobin |
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What is Ferritin? What does it mean when it's abnormal?
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Binds and stores iron, amount available is correlated to the mount abailable iron
Lower= iron deficient anemia Higher= hemochromatosis |
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What is Total Iron Binding Capacity? What does it mean when its abnormal?
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Transferrin - transports iron from gut to tissue
Low= excess iron (High Ferritin) High= low iron (low ferritin) |
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What is the difference between Iron deficient Anemia and Alpha Thalassemia?
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Alpha Thalasemmia will have HIGH Ferritin and LOW Transferrin while Iron Defienct Anemia is the opposite
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What happens in the body when someone is initially sensitized?
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Intial exposure produces IgM doesn't cross placenta which later will shift to IgG.
Mom begins to produce antibodies against RH+ blood which will attack the blood for next pregnancy |
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What are the consequences to the baby if mom is sensitized? (4)
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Hemolytic disease of the newborn
jaundice anemia kernicterus (brain damage by excess bilirubin) |
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How do you treat women for sensitization? (2)
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Inject women who are Rh- with RhIg (IgG from antibodies to D) within 72 hrs post exposure
RhoGam |
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Characteristics of Toxoplasmosis
(Cause and 7 characteristics) |
can come from cat feces, caused by a parasite
bad consequences to fetus retinochoroiditis cerebral calcifications seizures microcephaly hydrocephaly jaundice rash |
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Characteristics of Rubella (5)
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cataracts
Congenital Heart Defect Microcephaly Mental Retardation Hearing Loss |
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Characteristics of Cytomegalovirus (CMV) (5)
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heptamegaly, splenomegaly, hearing loss, vision loss, Mental retardation
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Characteristics of Herpes Virus (4)
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microcephaly
cataract micophthalmi growth retardation . |
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When testing for TORCH IgG indicates
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The infection is older because it is produced second by the body and can stay for years.
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When testing for TORCH IgM indicates
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The infection is newer because the B cells make this first and it goes away very quickly
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Hemaglobin A1C
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Glycosylated hemoglobin and is detectable for the life of RBC. Reflects average amount of glucose in blood over the past 2-3 months.
Ideal value is 6% or less |
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Characteristics of Open Neural Tube Defects
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Open Neural Tube Defects leave brain and spine covered by thin membrane only
Almost always have problems with bladder and bowl control Learning Disability Nerve Damage in legs |
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Characteristics of Closed Tube Defects
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Closed Neural Tube Defects cover the brain and spine by a thick membrane, skin or scar tissue
Usually have a spot with hair over it Range of phenotypes |
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Alpha Fetoprotein (AFP)
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Major plasma protein in fetal life (liver)
Not often expressed in adults Synthesized in liver and passes directly to the fetal bloodstream, filtered out of the blood by fetal kidneys Present in amniotic fluid and maternal serum |
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Why is AFP higher in ONTD?
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Diffusion of AFP directly into amniotic fluid and across amniotic membrane which leads to high serum levels
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When does AFP Peak in Fetal Blood
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13 Weeks
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When does AFP Peak in Amniotic Fluid
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13 Weeks
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When does AFP Peak in Maternal Serum
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32 Weeks
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Maternal Factors affecting MS-AFP (10)
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Gestational Age (draw between 15-21 weeks)
Maternal Weight Diabetes Ethnicity Twins Fetal Blood Exposure Parvovirus Sensitization Lupus Liver Disease |
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High MS-AFP and High AF-AFP could indicate (3)
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ONTD
Ventral Wall Defect Congenital Nephrosis |
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High MS-AFP and Normal AF-AFP could indicate (4)
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Preeclampsia
IUFD IUGR Preterm Delivery |
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Pregnancy Associated Plasma Protein A (PAPP-A) test characteristics
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Marker for Downs (60% lower in downs)
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Free Beta hCG
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shows Dissociated subunits of the heterodimer (free beta) in serum.
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First Trimester Biochemical Screen
(what test does it include, and whats the detection rate and FPR) |
PAPP-A, AMA, free-beta hcG
62% detection rate 5% FPR |
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Nuchal Translucency
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Look at amount of fluid in the back of the next at 11 weeks via ultrasound
77% detection rate with 5% FPR |
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What is involved in a triple screen?
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Estriol, HcG, MS-AFP, AMA
60% detection rate for Tri 21, 5% FPR |
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What is Estriol?
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steroid hormone produced largely by placenta in 2nd/3rd tri.
In Tri 21 values are 25% lower |
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What is Human Chorionic Gonadotropin?
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hormone produced by the placenta during pregnancy.
Tri21 has higher levels |
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What is tested in a Quad Screen?
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Estriol, hCG, MS-AFP, Inhibin-A
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What is Inhibin-A
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inhibits FSh production in pituitary, made by placenta during pregnancy
Tri 21 has elevated levels |
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What is the difference between sequential and integrated testing?
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In sequential testing you reveal the risk in the first trimester and then calculate the combined risk in the second. Integrated testing waits until the second trimester to reveal anything
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Non-Invasive Prenatal Testing
(4) |
Based on circulating cell-free DNA
Up to 6% of the DNA in a pregnany womans blood comes from the fetus, can be detected and quantified Can estimate the total about of DNA from each chromosome by sequencing small fragments and assigning them to chromosomes. detection 98.6% with a .2% FPR |
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Trisomy 13 Characteristics (8)
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Congenital Heart Defects
Rocker Bottom Feet IUGR Renal issues Spina Bifida Cleft Palate Seizures Intellectual Deficiency |
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Abnormalities seen on Ultrasound for Trisomy 13 (3)
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Increased NT
Large Bladder Organs pushing on umbilical cord |
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Why is it important to consider Trisomy 18 if the Quad screen results come back abnormal?
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Quad screen will show all low levels which will not be produced by wrong date of conception
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What/ disorder can be picked up for by Low Estriol levels
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Smith-Lemli-Opitz
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Characteristics of Smith-Lemli-Optiz (8)
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Growth retardation
Microcephaly Facial Anamolies Congenital heart defect feminization of genitalia mental retardation seizures renal issues |
