Term
|
Definition
Karyotype
or FISH to r/o mosaicism |
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Term
|
Definition
|
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Term
|
Definition
| DNA sequencing (93% accurate) in the context of clinical suspicion |
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Term
|
Definition
| Newborn screen using tandem MS for acylcarnitine |
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Term
|
Definition
|
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Term
|
Definition
| lactate levels, look at mitochondrial DNA |
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Term
|
Definition
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Term
|
Definition
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Term
|
Definition
|
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Term
|
Definition
| FBN1 gene has mutant fibrillin on xsome 15q21 |
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Term
|
Definition
| NF1gene has mutant neurofibromin on xsome 17q |
|
|
Term
| Test for Huntington disease |
|
Definition
| PCR to detect CAG expansion (<26 is normal) |
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Term
|
Definition
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|
Term
| Test for congenital deafness |
|
Definition
| newborn screen audiometry/ABR; sequence GJB2 |
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|
Term
| which disease uses southern blot to determine methylation status? |
|
Definition
|
|
Term
| Which diseases display anticipation? |
|
Definition
| Fragile X (CGG), Huntington(CAG), Myotonic Dystrophy (CTG) |
|
|
Term
| 22q11.2 is characterized by what clinical symptoms? |
|
Definition
| Big nose, small eyes, cleft palate, hypocalcemia, impaired T cells |
|
|
Term
| What is the test for 22q11.2 (DiGeorge) |
|
Definition
|
|
Term
| How do you estimate the date of delivery? |
|
Definition
| 40 weeks from 1st day of last menstrual period or add 7 days to the 1st day of the last menstrual period then subtract 3 months |
|
|
Term
| What are the weeks of each trimester? |
|
Definition
1st – 1st 12 to 14 weeks
2nd – 12-24 to 28 weeks
3rd – 24 weeks + |
|
|
Term
| What are the G’s and P’s of obstetrics? |
|
Definition
Gravida: number of pregnancies total
Para: a – Number of full term deliveries (>37 weeks)
b – Number of preterm deliveries (20-37 weeks)
c – Number of miscarriages/abortions (<20 weeks)
d – Number of living children |
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|
Term
| On what day do you have implantation of the blastocyst? |
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Definition
|
|
Term
| What embryological layer turns into the outer layer of placenta? |
|
Definition
|
|
Term
| What are the two layers of the outer placenta? |
|
Definition
| Outer synctiotrophoblast and inner cytotrophoblast |
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|
Term
| In a normal pregnancy, what hormone is first detectable 6-12 days after ovulation? |
|
Definition
|
|
Term
| When do Beta-HCG levels peak during a normal pregnancy? |
|
Definition
| 10 weeks (at ~100,000 mIU/mL) |
|
|
Term
| A progesterone level below what number indicates an abnormal pregnancy? |
|
Definition
|
|
Term
| On ultrasound, what is the first visible indication of a sure Intrauterine pregnancy? |
|
Definition
|
|
Term
| At what gestational age would you expect to see cardiac motion? |
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Definition
|
|
Term
| What are risk factors for spontaneous abortion? |
|
Definition
| Maternal age, prior miscarriage, smoking, and alcohol/cocaine |
|
|
Term
| What is the most common reason for spontaneous abortion? |
|
Definition
| Genetic (errors in gametogenesis) |
|
|
Term
| What are maternal infections that cause spontaneous abortions? |
|
Definition
| Listeria monocytogenes, Toxoplasma gondii, parvovirus B19, rubella, and cytomegalovirus |
|
|
Term
| What would you use to medically manage a spontaneous abortion? |
|
Definition
| Misoprostol, mifepristone |
|
|
Term
| What is the most common cause of maternal mortality in the first trimester of pregnancy? |
|
Definition
|
|
Term
| Where are most ectopic pregnancies located? |
|
Definition
|
|
Term
| What are the risk factors for ectopic pregnancies? |
|
Definition
| Previous ectopic pregnancy, prior tubal surgery or sterilization, pelvic inflammatory disease (PID), IUD in place, in utero DES exposure, assisted reproductive technologies |
|
|
Term
| What is the medical management of an ectopic pregnancy? |
|
Definition
|
|
Term
| What are the risk factors for a molar pregnancy? |
|
Definition
| Age > 35, age <20, southeast Asian, history of prior molar pregnancy |
|
|
Term
| What is seen on ultrasound for a complete mole? |
|
Definition
|
|
Term
| What is the chromosomal pattern for a complete mole? |
|
Definition
|
|
Term
| What is the chromosomal pattern for an incomplete mole? |
|
Definition
|
|
Term
| If you suspect malignancy from the gestational trophoblastic disease, what patterns should you see for the Beta HCG? |
|
Definition
| Plateau of HCG, rising HCG, and persistent HCG 6 months after evacuation or delivery |
|
|
Term
| What age group is an elective abortion most common? |
|
Definition
|
|
Term
| What is used for a medication-induced abortion? |
|
Definition
| Mifepristone and misoprostol |
|
|
Term
| What is the mechanism of action of mifepristone? |
|
Definition
| Blocks the receptors for progesterone and glucocorticosteroids -> results in uterine contractions, pregnancy disruption, and dilation and softening of the cervix |
|
|
Term
| When is it possible to use medication to terminate? |
|
Definition
|
|
Term
| What hormone is stimulated by progesterone to increase body water? |
|
Definition
|
|
Term
| What hematologic changes occur during pregnancy? |
|
Definition
| RBC volume increase (but physiologic anemia starting at 30-34 weeks EGA), increase in leukocytes, decline in platelets |
|
|
Term
| What cardiac abnormalities arise during a normal pregnancy? |
|
Definition
| Peripheral edema, JVD, dyspnea, change in heart position and size (physiologic hypertrophy), S3 gallop, systolic ejection murmur (Others – increase in cardiac output, MAP, and HR, decrease in pulmonary vascular resistance, colloid oncotic pressure, and CVP) |
|
|
Term
| What decreases systemic vascular resistance in pregnancy? |
|
Definition
| Progesterone mediated vasodilation, low pressure “sink” of uterine, placental circulation |
|
|
Term
| Where is the top of the mother’s uterus at week 24? |
|
Definition
| Top of belly button (umbilicus) |
|
|
Term
| What is the major cause of venous thromboembolism in pregnancy? |
|
Definition
| Venous stasis, vessel wall injury, and hypercoagulability (decrease in fibrinolytic system and increase in procoagulant factors) |
|
|
Term
| In pregnancy, the increase of this hormone causes a 2-3 times increase in thyroid binding globulin? |
|
Definition
|
|
Term
| What are the weight gain goals for a patient with a BMI of greater than 30? |
|
Definition
|
|
Term
| What factors affect maternal blood flow and exchange across the syncytiotrophoblast? |
|
Definition
| Maternal blood pressure, maternal vasospasm, size of the placental bed, and thickness of the barrier between fetal/maternal circulation |
|
|
Term
| What is the time frame for the development of gestational hypertension? |
|
Definition
| HTN develops after 20 weeks gestation in the absence of proteinuria |
|
|
Term
| What are mothers with severe gestational HTN at risk for? |
|
Definition
| Placental abruption, preterm delivery, small for gestational age infant, induction of labor, cesarean section, and development of preeclampsia |
|
|
Term
| To diagnose pre-eclampsia, what vital signs and lab values must a mother have? |
|
Definition
| HTN (BP > 140/90), proteinuria (> 0.3 g in 24 hours), and edema that develops after 20 weeks gestation |
|
|
Term
| To diagnose severe pre-eclampsia, what must a mother present with? |
|
Definition
Preeclampsia and the presence of one of the following signs or symptoms:
BP > 160/110, proteinuria > 5 g in 24 hour collection or > 3+ urine dipstick, pulmonary edema or cyanosis, oliguria, cerebral or visual disturbances (headaches or scotoma), epigastric or RUQ pain, impaired liver function, thrombocytopenia, or IUGR |
|
|
Term
| What are the neonatal/fetal risks for preeclampsia? |
|
Definition
| Fetal demise (chronic hypoxia, acute hypoxia, acidosis) or neonatal demise (asphyxia or prematurity) |
|
|
Term
| How would you manage a patient with severe preeclampsia? |
|
Definition
Onset after 34 weeks – delivery
Onset <34 weeks – if stables, then give corticosteroids to accelerate lung maturity and hospitalization with daily fetal assessment |
|
|
Term
| What can be used for seizure prophylaxis in preeclampsia? |
|
Definition
|
|
Term
| If a patient has HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets), what should you do? |
|
Definition
|
|
Term
| When can eclampsia occur? |
|
Definition
| Antepartum, intrapartum, or post-partum |
|
|
Term
| What are risk factors for gestastional diabetes? |
|
Definition
| Obesity, ethnicity, multifetal gestation, maternal age > 35, prior affected gestation, first degree relative with diabetes, and hypertensive disorders |
|
|
Term
| What are fetal risks for gestational diabetes? |
|
Definition
| Macrosomia, stillbirth, delayed respiratory maturity, neonatal (polycythemia, hypoglycemia, jaundice, acidosis, hypocalcemia), and lifetime risk of obesity, diabetes, and HTN |
|
|
Term
| When should you screen for gestational diabetes? |
|
Definition
| 26-28 weeks with 50 gram glucose challenge. However screen earlier if obese, prior history |
|
|
Term
| Post-partum, what are mothers with gestational diabetes at risk for? |
|
Definition
| Developing frank diabetes |
|
|
Term
| For a monochorionic/monoamniotic monozygotic twins to form, what days could you have splitting of the egg? |
|
Definition
|
|
Term
| In a complete placenta previa, where is the placenta located? |
|
Definition
| Overlying the internal os of the cervix |
|
|
Term
| What are risk factors for placenta previa? |
|
Definition
| Multiparity, advanced maternal age, multiple gestation, prior uterine surgery, uterine abnormality, smoking, and cocaine use |
|
|
Term
| What is the classic presentation of a patient with placenta previa? |
|
Definition
| Asymptomatic bleeding, sudden onset, “sentinel bleed” |
|
|
Term
| What are fetal risks of placental abruption? |
|
Definition
| Intraventricular hemorrhage, leukomalacia, and hypoxic brain injury |
|
|
Term
| What is the classic presentation of a patient with placental abruption? |
|
Definition
| Painful, non-clotting blood, fetal compromise, DIC |
|
|
Term
| For a patient with possible placental abruption, what would you be looking for on history? |
|
Definition
| Cocaine use, abdominal trauma, maternal HTN, multiple gestation, and polyhydramnios |
|
|
Term
| What is typically performed to treat a placenta accreta? |
|
Definition
|
|
Term
| What is the action of oxytocin on the initiation of labor? |
|
Definition
| Stimulates uterine contractions and stimulates PG production from amnion/decidua |
|
|
Term
| What are inhibitors of uterine activity during pregnancy? |
|
Definition
| Progesterone, prostacycline, relaxin, nitric oxide, and PTH-rp |
|
|
Term
| What are the cardinal movements of labor? |
|
Definition
| Descent, flexion, internal rotation, extension, external rotation, and expulsion |
|
|
Term
|
Definition
| Clinically by regular uterine contractions (duration 30-60 seconds, every 5 minutes) and progressive cervical change (effacement and dilation) |
|
|
Term
| Early decelerations in fetal heart rate monitoring can be caused by what? |
|
Definition
| Vagal reflex (cervical compression on fetal head) |
|
|
Term
| Late decelerations in fetal heart rate monitoring can be caused by what? |
|
Definition
| Uteroplacental insufficiency, low O2 in CNS, increased sympathetic tone, increased BP, bradycardia, and myocardial depression |
|
|
Term
| What agents can be used to inhibit uterine contractions? |
|
Definition
| Magnesium sulfate, terbutaline, nifedipine, indomethacin, and oxytocin receptor antagonists |
|
|
Term
| How would you diagnose premature rupture of membranes? |
|
Definition
| Vaginal pooling, “Nitrazine” positive, “Ferning”, Indigo carmine amnioinfusion (gold standard) |
|
|
Term
| Fetuses with accessory lobes in their placenta are at risk for what? |
|
Definition
| Fetal bleeding at the time of the membrane rupture |
|
|
Term
| A green color of placental membranes indicates what? |
|
Definition
|
|
Term
| What does meconium discharge indicate? |
|
Definition
| Fetal distress or fetal maturity |
|
|
Term
| For acute chorioamnionitis, what is often the appearance of the membranes? |
|
Definition
| Cloudy, opaque and often yellow |
|
|
Term
| What organisms cause acute chorioamnionitis? |
|
Definition
| Group B strep, gram negative enteric organisms, anaerobes |
|
|
Term
| In the amnion and chorion of a patient with acute chorioamnionitis, what would you see on histology? |
|
Definition
|
|
Term
| What are the fetal complications of chronic villitis? |
|
Definition
| Infection, IUGR, fetal distress or demise |
|
|
Term
| When would you see hemosiderin-laden macrophages in the placental tissues of a mother with a retroplacental hematoma? |
|
Definition
|
|
Term
| In placenta increta, what does the placenta invade? |
|
Definition
|
|
Term
| What are the American Academy of Pediatrics recommendations for breastfeeding? |
|
Definition
| Exclusive breastfeeding for about 6 months, with continuation of breastfeeding for 1 year or longer |
|
|
Term
| What hormone induces milk synthesis? |
|
Definition
|
|
Term
| What is the colostrum very high in? |
|
Definition
| Protein/antibodies and vitamins |
|
|
Term
| What type of formula is less likely to cause allergic reactions? |
|
Definition
| Protein hydrolysate formulas |
|
|
Term
| What is the definition for infertility? |
|
Definition
| >1 year of unprotected intercourse without conception |
|
|
Term
| What approaches can be used to monitor ovulation? |
|
Definition
| Urinary LH, basal body temperature, cervical mucus monitoring, menstrual cycle diary |
|
|
Term
| What are the most common etiologies for infertility? |
|
Definition
| Male and tubal/peritoneal factors |
|
|
Term
| What are genetic factors that cause abnormal sperm production? |
|
Definition
| Klinefelters, CFTR mutation, and microdeletion of the Y chromosome |
|
|
Term
| What are hypothalamic causes for ovarian dysfunction? |
|
Definition
| Kallman’s syndrome, anorexia, athletics |
|
|
Term
| What would you evaluate when considering the ovarian factor causing infertility? |
|
Definition
| HPO axis, thyroid, hyperprolictinemia, and genetic |
|
|
Term
| What is required for the use of clomiphene and the aromatase inhibitors for ovulation induction? |
|
Definition
|
|
Term
| . How would you diagnose the tubal factor as being the etiology of infertility? |
|
Definition
| Hysterosalpingogram and chomopertubation during laparoscopy |
|
|
Term
| What are acquired abnormalities of the uterus that cause infertility? |
|
Definition
| Submucosal leiomyoma, endometrial polyp, and intrauterine adhesions (Asherman’s) |
|
|
Term
| The incidence of chromosome abnormalities is highest in spontaneously aborted pregnancies in what trimester of pregnancy? |
|
Definition
|
|
Term
| In pregnant individuals, who would you offer a karyotype to? |
|
Definition
| Individuals and pregnancies that are clinically abnormal, individuals with a personal history or a family history of miscarriages, clinically abnormal offspring, and/or infertility, and patients with a positive first or second trimester serum marker screen |
|
|
Term
| What testing procedure has the highest risk of procedure-induced pregnancy loss? |
|
Definition
| Chorionic villus sampling (10-12 weeks) |
|
|
Term
| What is the most common prenatal sample type for cytogenetic testing? |
|
Definition
|
|
Term
| What increases the recurrence risk of a woman with a previous child with trisomy 21? |
|
Definition
| Gonadal mosaicism and increased predisposition to meiotic error |
|
|
Term
| What is the theoretical recurrence risk for having a live born Down syndrome child due to parent’s Robertsonian translocation? |
|
Definition
| 33% (Empiric recurrence risk is 3-5% and 10-15% for male and female carriers respectively) |
|
|
Term
| What is the most common form of Down syndrome? |
|
Definition
| Nondisjunction (47, XY, +21) |
|
|
Term
| From what parent is the sex chromosome preferentially lost in Turner syndrome? |
|
Definition
|
|
Term
| There is the risk of what occurring if Y bearing cell line present in a Turner syndrome patient? |
|
Definition
| Formation of Gonadoblastoma |
|
|
Term
| What is the prophylactic treatment of gonadoblastoma? |
|
Definition
|
|
Term
| Large distal exchanged segments in translocations can increase the risk of what? |
|
Definition
| Miscarriages and/or periods of infertility |
|
|
Term
| Trisomies and monosomies of what chromosomes are likely to result in miscarriages and infertility? |
|
Definition
|
|
Term
| What can prenatal interphase FISH assays detect? |
|
Definition
| Common aneuploidies (X, Y, 13, 18 and 21) |
|
|
Term
| When can a FISH assay not be able to confirm the diagnosis of DiGeorge syndrome? |
|
Definition
| When microdeletions are positioned outside of the critical region that is targeted by FISH |
|
|
Term
| What is the low limit of resolution for G-banding(Karyotyping)? |
|
Definition
|
|
Term
| What cytogenetic technique can identify a translocation that is balanced? |
|
Definition
| Metaphase FISH and karyotyping |
|
|
Term
| What can SNP data identify? |
|
Definition
| Long stretches of homozygosity associated with uniparental disomy and consanguinity |
|
|
Term
| What can chromosome microarrays not detect? |
|
Definition
| Balanced rearrangements and low level mosaicism |
|
|
Term
| What are limitations of PCR based mutation detection assays? |
|
Definition
| Large gains and losses will not generally be detected and sequence variants within the primer/probe regions can interfere with primer annealing |
|
|
Term
| What is the inheritance pattern for myotonic dystrophy and what is the mutation? |
|
Definition
| Autosomal dominant, trinucleotide repeat expansion (CTG)n |
|
|
Term
| What can be used to identify the trinucleotide repeat expansion of myotonic dystrophy? |
|
Definition
|
|
Term
| What are the symptoms of congenital myotonic dystrophy? |
|
Definition
| Hypotonia, intellectual disability, poor feeding, respiratory distress, bilateral facial weakness (“tented” mouth), myotonia develops after 5-10 years, and nearly always inherited from affected mothers |
|
|
Term
| What is the most common form of intellectual disability? |
|
Definition
|
|
Term
| What is the trinucleotide repeat in Fragile X syndrome and what the trinucleotide repeat mean on a chromosomal level? |
|
Definition
| CGG causing a higher degree of methylation on FMR1 allele |
|
|
Term
| How many repeats are necessary to cause loss of expression of the FMR1 gene? |
|
Definition
|
|
Term
| What is the trinucleotide repeat in Hungtinton disease? |
|
Definition
|
|
Term
| What is the term used to describe the progressively earlier onset and increased severity of certain diseases in successive generations of a family? |
|
Definition
|
|
Term
| What cytochrome p450 metabolizes warfarin? |
|
Definition
|
|
Term
| What genetic variants of CYP2C9 result in reduced activity? |
|
Definition
|
|
Term
| What are the criteria for including a disorder in the newborn screen? |
|
Definition
| 1) the natural history of the disorder is understood, 2) relatively high incidence, 3) effective medical treatment, 4) inexpensive screening test, 5) screening test has a very high sensitivity and specificity |
|
|
Term
| What are the two major causes of PKU? |
|
Definition
| Deficiency of phenylalanine hydroxylase and deficiency of the cofactor, tetrahydrobiopterin |
|
|
Term
| What are the disorders detected by MS/MS? |
|
Definition
| Amino acidopathies (PKU, maple syrup urine disease, homocystinuria, etc), organic acidemias (propionic academia, methylmalonic academia, isovaleric academia, etc), fatty acid oxidation disorders (SCAD deficiency, MCAD deficiency, etc) |
|
|
Term
| What causes classical galactosemia? |
|
Definition
| Deficiency of the enzyme galactose-1-phosphate uridyltransferase |
|
|
Term
| For patients with urea cycle disoders, what should you limit in their diet? |
|
Definition
|
|
Term
| What can be used to treat patients with urea cycle disoders? |
|
Definition
| Arginine or citrulline, sodium benzoate, and sodium phenylacetate/phenylbutyrate |
|
|
Term
| What can be used to treat patients with glycogen storage disorder type 1? |
|
Definition
| Frequent feedings with glucose or glucose polymers |
|
|
Term
| What are the clinical features of biotinidase deficiency? |
|
Definition
| Seizures, ataxia, hypotonia, developmental delay, skin rash, and alopecia |
|
|
Term
| angiomyolipoma, seizures, six hypopigmented patches and subependymal nodules |
|
Definition
| tuberous sclerosis, tumor suppressor mutation |
|
|
Term
| how is tuberous sclerosis diagnosis confirmed? |
|
Definition
|
|
Term
| the mechanism of getting Prader Willi syndrome that prevents methylation testing is due to |
|
Definition
|
|
Term
| large ears, h/o intellectual diability in a developmentally delayed child is likely what disease |
|
Definition
|
|
Term
| a child presents with bilateral SNHL, confirmed by ABR, has white tuft of hair in anterior hairline, hypopigmented patches on skin is likely what disease |
|
Definition
| Waardenburg syndrome, diagnosed with MLPA to identify partial gene deletions |
|
|
Term
| •A single disorder, trait, or pattern of traits caused by mutations in genes at different chromosomal loci |
|
Definition
|
|
Term
q^2 is the affected population
p^2 is the unaffected population and
2pq is what population |
|
Definition
| carrier population, heterozygotes |
|
|
Term
|
Definition
| Mutations in the ASS1 gene cause type I citrullinemia. This gene provides instructions for making an enzyme, argininosuccinate synthase 1, that is responsible for one step of the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively |
|
|
Term
| what enzyme is missing in galactosemia? |
|
Definition
| galactose-1-phosphate uridyltransferase |
|
|
Term
| long term consequences of galactosemia even with compliance in treatment? |
|
Definition
| short stature, ovarian failure, learning disabilities, shyness, difficulty in social interactions |
|
|
Term
| in a child with MCADD should you test siblings |
|
Definition
| yes, look for acylcarnitine |
|
|
Term
| why does hypoketonuria occur in MCAD def patients who are fasting? |
|
Definition
| they have a defect in metabolizing long chain sat fats including ketone bodies |
|
|
Term
| what test is appropriate for: a couple that has had 3 first trimester SAB unexplained by gynecologic exam? |
|
Definition
| routine chromosome analysis |
|
|
Term
| what test is appropriate for: a kid with achondroplasia. You know that 8% of individuals with it have G1138A substitution in FGFR3 gene? |
|
Definition
|
|
Term
| what test is appropriate for: a kid with multiple café au lait spots and bilateral optic gliomas? |
|
Definition
| no test! future gene sequencing for planning future pregers! |
|
|
Term
| what test is appropriate for: a kid with Smith-Magenis syndrome, you know that 70% of individuals with this have 3.5Mb microdeletion |
|
Definition
|
|
Term
| what test is appropriate for: a kid with microcephaly and developmental delay as a result of maternal PKU? |
|
Definition
|
|
Term
| what test is appropriate for: a lady with scoliosis and h/o lens discoloration, currently pregers and wants to test her fetus? |
|
Definition
|
|
Term
| what test is appropriate for: a boy with regression, infections, loss of growth? |
|
Definition
|
|
Term
| what test is appropriate for: a neonate with multiple congenital anomalies, mother had amniocentesis with normal prenatal karyotype? |
|
Definition
|
|
Term
| what is the most likely embryologic derivative to a kid who presents with sparse hair, decreased sweating, and abnormal teeth. He currently has 8 teeth that are small and pointy? |
|
Definition
|
|
Term
| what developmental abnormality is at play in a kid who presents with sparse hair, decreased sweating, and abnormal teeth. He currently has 8 teeth that are small and pointy? |
|
Definition
|
|
Term
| bluish pale skin, S2 heart sound, EKG shows RVH. what genetic condition is most likely present? |
|
Definition
| 22q11.2 deletion syndrome - this kid has tetralogy of Fallot. |
|
|
Term
| Aortic root dilatation/dissection is seen in which genetic condition? |
|
Definition
| Duchenne muscular dystrophy |
|
|
Term
| Coarctation of the aorta is seen in which genetic condition |
|
Definition
|
|
