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 | 35
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| Why do we worry about increased maternal age | The risk to have a child with a chromosome condition is increased
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| Multiple pregnancy losses are defined as __ pregnancy losses | Three or more
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| Maternal conditions that may increase the risk of birth defects | 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 | Teratogens
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| What are the two systems that continue to develop throughout pregnancy | Brain and genitalia
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| A union between individuals who are related | Consanguinity
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| Consanguinity increases the risk for __ disorders | Autosomal recessive
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| As a general rule everyone carries __ autosomal recessive genes | 5-7
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| What is First trimester screening or “Nuchal Translucency Screening” | 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 | chorionic villus sampling, basically a biopsy of placental tissue
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| Ultrasound can identify __% of babies with Down syndrome | 50
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| Ultrasound cannot __ all chromosome conditions or birth defects | Rule out
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| Ultrasound an identify __% of babies with any chromosome condition, although those that are detected tend to be the most severe | 30
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| A fluid collection in 3 or more body parts | Hydrops
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| The earlier a spontaneous abortion occurs the more likely it was due to __ | A chromosomal abnormality
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| Couples who experience habitual abortion constitute about __% of the population | 0.5%
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| Recurrent pregnancy loss is now defined as __ spontaneous abortions | 2 or more
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| What are the three most common trisomic conditions seen in living individuals | Trisomy 13,18 and 21
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| What is the most frequent abnormality related to a chromosome abnormality | Down syndrome
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| What is the most common type of Down syndrome | Trisomy 21
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| There is a positive correlation with the frequency of Down syndrome and __ | Maternal age
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| Babies with Down syndrome are more often born to __ mothers | 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 | 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 | 1 in 100 deliveries
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| What is the incidence of babies born with Down syndrome in the general population | 1 in 600 deliveries
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| What are some examples of neural tube defects | Anencephaly, spina bifida, and meningomyelocele
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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 | 2-5%, 10% respectively
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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 | Maternal serum AFP
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| Cystic fibrosis affects __ individuals of European descent in the United States | 1 in 3300
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| All individuals with a family history of cystic fibrosis should be offered __ | carrier testing
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| What is the value of CVS | It can be performed earlier in the pregnancy
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| What is the downfall of CVS | A slightly higher miscarriage rate of 1-5% and an association with distal limb defects
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| When is amniocentesis generally carried out | 15-17 weeks
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| What is the underlyin risk of amniocentesis when performed at 15 weeks of gestation and beyond | Increased risk of miscarriage
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| How long does the process of karyotyping take place | 10-14 days
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| If 1 parent is affected by an autosomal dominant disorder what are the chances that the child will be affected | 1 in 2
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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 | 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 __ | Trisomy 21
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| In the absence of chromosomal abnormalities an increased nuchal translucency is associeated with an increased risk of __ | Structural cardiac abnormalities and skeletal dysplasia
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| AKA the triple screen | Maternal serum analyte testing
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| What is included in the maternal serum analyte testing (triple screen) | 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 | Inhibin
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| To which populations should screening for sickle cell disease be offered | Individuals of African/African American descent, those from the Mediterranean basin, the middle east, and India
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| What is the definitive test to determine the carrier status of sickle cell disease | Hemoglobin electrophoresis
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| What two groups have the highest rates of cystic fibrosis | 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 | 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 | Fetal number, presentation, documentation of viability, gestational age, amniotic volume, placental location, fetal biometry, and an anatomic survey
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| When is a specialized US exam performed | When an anomaly is suspected based on history, biochemical abnormalities, or results of either the limited or standard scan
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| When is the typical fetal anatomic survey performed | 17-20 weeks
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| When is amniocentesis often performed | 15-20 weeks
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| What is the risk of abortion as a result of amniocentesis | 1 in 200 to 1 in 450
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| When is chorionic villus sampling performed | 10-12 weeks
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| What is the benefit of CVS over amniocentesis | Its availability earlier in pregnancy
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| What are some disadvantages of CVS over amniocentesis | Higher rate of abortion, does not allow diagnosis of neural tube defects
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| What does PUBS stand for | Percutaneous umbilical blood sampling
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| What are some benefits of PUBS | Rapid result turnaround and the ability to perform the procedure in the second and third trimesters
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| Fetal movements associated with __ provide reassurance that the fetus is not acidotic or neurologically depressed | Accelerations of fetal heart rate
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| A reactive and therefore reassuring non-stress test is defined as | 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 | Open neural tube defects
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| __ levels in amniotic fluid appear to be more specific than the AFP test in predicting neural tube defects | Acetylcholinesterase
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| Low levels of AFP in conjunction with estriol and comparatively high levels of hCG have been shoen to be predictive for __ | 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 | Down syndrome
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| What is the most common consideration in selecting women for diagnostic amniocentesis | Advanced maternal age
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| After __ weeks both amniotic fluid and maternal plasma volume decrease | 38
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