Duke PA OB Genetic Testing
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each of the black spaces below before clicking
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| Increased maternal age is defined as a mother who will be __ years or older on the day of delivery | show 🗑
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| Why do we worry about increased maternal age | show 🗑
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| show | Three or more
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| show | Insuline dependent diabetics, lupus, seizure disorders, substance abuse
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| An exposure during embryogenesis which has a harmful effect on the developing fetus | show 🗑
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| What are the two systems that continue to develop throughout pregnancy | show 🗑
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| show | Consanguinity
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| Consanguinity increases the risk for __ disorders | show 🗑
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| show | 5-7
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| show | Ultrasound measurements of the nuchal translucency obtained 10-13 6/7 gestational weeks. Designed to identify fetuses at risk for Down syndrome, trisomy 13 and trisomy 18
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| What does CVS stand for | show 🗑
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| Ultrasound can identify __% of babies with Down syndrome | show 🗑
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| Ultrasound cannot __ all chromosome conditions or birth defects | show 🗑
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| show | 30
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| show | Hydrops
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| show | A chromosomal abnormality
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| Couples who experience habitual abortion constitute about __% of the population | show 🗑
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| Recurrent pregnancy loss is now defined as __ spontaneous abortions | show 🗑
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| show | Trisomy 13,18 and 21
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| What is the most frequent abnormality related to a chromosome abnormality | show 🗑
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| What is the most common type of Down syndrome | show 🗑
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| There is a positive correlation with the frequency of Down syndrome and __ | show 🗑
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| show | Teenage, and over 35
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| What is the incidence of babies born with Down syndrome to mothers over the age of 45 | show 🗑
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| What is the incidence of babies born with Down syndrome to mothers over the age of 40 | show 🗑
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| show | 1 in 600 deliveries
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| show | Anencephaly, spina bifida, and meningomyelocele
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| show | 2-5%, 10% respectively
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| show | Maternal serum AFP
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| Cystic fibrosis affects __ individuals of European descent in the United States | show 🗑
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| All individuals with a family history of cystic fibrosis should be offered __ | show 🗑
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| What is the value of CVS | show 🗑
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| What is the downfall of CVS | show 🗑
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| show | 15-17 weeks
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| What is the underlyin risk of amniocentesis when performed at 15 weeks of gestation and beyond | show 🗑
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| show | 10-14 days
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| show | 1 in 2
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| show | 1 in 4 of being affected, 1 in 2 of being a carrier
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| Nuchal translucency, measured between 11 and 13 6/7 weeks, combined with free b-hcg, and pregnancy associated plasma protein A levels has been found to have 87% sensitivity for detection of __ | show 🗑
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| show | Structural cardiac abnormalities and skeletal dysplasia
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| AKA the triple screen | show 🗑
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| show | Maternal serum alpha-fetoprotein, beta hCG, and estriol
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| What is added to the triple screen to make it the quad screen in some institutions | show 🗑
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| To which populations should screening for sickle cell disease be offered | show 🗑
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| show | Hemoglobin electrophoresis
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| show | Caucasians and Ashkenazi jews
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| show | It is not the standard of care, and is not recommended for every pregnancy
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| What type of information does a standard US examination provide | show 🗑
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| When is a specialized US exam performed | show 🗑
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| When is the typical fetal anatomic survey performed | show 🗑
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| When is amniocentesis often performed | show 🗑
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| What is the risk of abortion as a result of amniocentesis | show 🗑
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| show | 10-12 weeks
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| What is the benefit of CVS over amniocentesis | show 🗑
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| show | Higher rate of abortion, does not allow diagnosis of neural tube defects
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| show | Percutaneous umbilical blood sampling
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| What are some benefits of PUBS | show 🗑
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| show | Accelerations of fetal heart rate
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| show | 2 or more FHR accelerations, at least 15 bpm above baseline and lasting at least 15 seconds within a 20 min period
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| show | Open neural tube defects
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| show | Acetylcholinesterase
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| show | Down syndrome
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| show | Down syndrome
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| What is the most common consideration in selecting women for diagnostic amniocentesis | show 🗑
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| After __ weeks both amniotic fluid and maternal plasma volume decrease | show 🗑
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