Duke PA OB Genetic Testing
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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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| show | The risk to have a child with a chromosome condition is increased
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| Multiple pregnancy losses are defined as __ pregnancy losses | show 🗑
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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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| show | Brain and genitalia
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| A union between individuals who are related | show 🗑
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| Consanguinity increases the risk for __ disorders | show 🗑
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| As a general rule everyone carries __ autosomal recessive genes | show 🗑
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| What is First trimester screening or “Nuchal Translucency Screening” | show 🗑
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| show | chorionic villus sampling, basically a biopsy of placental tissue
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| Ultrasound can identify __% of babies with Down syndrome | show 🗑
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| show | Rule out
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| show | 30
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| A fluid collection in 3 or more body parts | show 🗑
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| The earlier a spontaneous abortion occurs the more likely it was due to __ | show 🗑
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| show | 0.5%
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| show | 2 or more
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| What are the three most common trisomic conditions seen in living individuals | show 🗑
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| show | Down syndrome
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| show | Trisomy 21
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| show | Maternal age
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| show | Teenage, and over 35
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| show | 1 in 40 deliveries
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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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| What is the incidence of babies born with Down syndrome in the general population | show 🗑
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| What are some examples of neural tube defects | show 🗑
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| If a couple has a child with a neural tube defect what is the chance that they will have another child affected with the disease. What if they had 2 children affected with the disease | show 🗑
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| __ screening detects about 85% of all open NTD, and 90% of all anencephalic infants, however it does not detect closed forms of NTDs | show 🗑
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| show | 1 in 3300
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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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| When is amniocentesis generally carried out | show 🗑
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| show | Increased risk of miscarriage
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| How long does the process of karyotyping take place | show 🗑
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| If 1 parent is affected by an autosomal dominant disorder what are the chances that the child will be affected | show 🗑
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| If both parents are affected by an autosomal recessive disorder what is the chance the child will be affected, what is the chance that the child will be a carrier | show 🗑
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| show | Trisomy 21
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| In the absence of chromosomal abnormalities an increased nuchal translucency is associeated with an increased risk of __ | show 🗑
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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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| show | Inhibin
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| To which populations should screening for sickle cell disease be offered | show 🗑
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| What is the definitive test to determine the carrier status of sickle cell disease | show 🗑
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| show | Caucasians and Ashkenazi jews
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| How does the american college of obstetricians and gynecologists feel about the use of diagnostic ultrasonography in the assessment of the pregnancy and fetus | show 🗑
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| What type of information does a standard US examination provide | show 🗑
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| show | When an anomaly is suspected based on history, biochemical abnormalities, or results of either the limited or standard scan
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| show | 17-20 weeks
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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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| When is chorionic villus sampling performed | show 🗑
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| show | Its availability earlier in pregnancy
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| show | Higher rate of abortion, does not allow diagnosis of neural tube defects
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| What does PUBS stand for | show 🗑
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| show | Rapid result turnaround and the ability to perform the procedure in the second and third trimesters
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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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| What are high levels of maternal serum AFP associated with | show 🗑
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| show | Acetylcholinesterase
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| show | Down syndrome
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| __ is the most common congenital cause of severe mental retardation with an incidence of about 1.3 per 1000 live births | show 🗑
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| show | Advanced maternal age
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| After __ weeks both amniotic fluid and maternal plasma volume decrease | show 🗑
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