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DU PA OB Gen Screen

Duke PA OB Genetic Screening

Increased maternal age is defined as a mother who will be __ years or older on the day of delivery 35
Why do we worry about increased maternal age The risk to have a child with a chromosome condition is increased
Multiple pregnancy losses are defined as __ pregnancy losses Three or more
Maternal conditions that may increase the risk of birth defects Insuline dependent diabetics, lupus, seizure disorders, substance abuse
An exposure during embryogenesis which has a harmful effect on the developing fetus Teratogens
What are the two systems that continue to develop throughout pregnancy Brain and genitalia
A union between individuals who are related Consanguinity
Consanguinity increases the risk for __ disorders Autosomal recessive
As a general rule everyone carries __ autosomal recessive genes 5-7
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
What does CVS stand for chorionic villus sampling, basically a biopsy of placental tissue
Ultrasound can identify __% of babies with Down syndrome 50
Ultrasound cannot __ all chromosome conditions or birth defects Rule out
Ultrasound an identify __% of babies with any chromosome condition, although those that are detected tend to be the most severe 30
A fluid collection in 3 or more body parts Hydrops
The earlier a spontaneous abortion occurs the more likely it was due to __ A chromosomal abnormality
Couples who experience habitual abortion constitute about __% of the population 0.5%
Recurrent pregnancy loss is now defined as __ spontaneous abortions 2 or more
What are the three most common trisomic conditions seen in living individuals Trisomy 13,18 and 21
What is the most frequent abnormality related to a chromosome abnormality Down syndrome
What is the most common type of Down syndrome Trisomy 21
There is a positive correlation with the frequency of Down syndrome and __ Maternal age
Babies with Down syndrome are more often born to __ mothers Teenage, and over 35
What is the incidence of babies born with Down syndrome to mothers over the age of 45 1 in 40 deliveries
What is the incidence of babies born with Down syndrome to mothers over the age of 40 1 in 100 deliveries
What is the incidence of babies born with Down syndrome in the general population 1 in 600 deliveries
What are some examples of neural tube defects Anencephaly, spina bifida, and meningomyelocele
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
__ 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
Cystic fibrosis affects __ individuals of European descent in the United States 1 in 3300
All individuals with a family history of cystic fibrosis should be offered __ carrier testing
What is the value of CVS It can be performed earlier in the pregnancy
What is the downfall of CVS A slightly higher miscarriage rate of 1-5% and an association with distal limb defects
When is amniocentesis generally carried out 15-17 weeks
What is the underlyin risk of amniocentesis when performed at 15 weeks of gestation and beyond Increased risk of miscarriage
How long does the process of karyotyping take place 10-14 days
If 1 parent is affected by an autosomal dominant disorder what are the chances that the child will be affected 1 in 2
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
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
In the absence of chromosomal abnormalities an increased nuchal translucency is associeated with an increased risk of __ Structural cardiac abnormalities and skeletal dysplasia
AKA the triple screen Maternal serum analyte testing
What is included in the maternal serum analyte testing (triple screen) Maternal serum alpha-fetoprotein, beta hCG, and estriol
What is added to the triple screen to make it the quad screen in some institutions Inhibin
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
What is the definitive test to determine the carrier status of sickle cell disease Hemoglobin electrophoresis
What two groups have the highest rates of cystic fibrosis Caucasians and Ashkenazi jews
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
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
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
When is the typical fetal anatomic survey performed 17-20 weeks
When is amniocentesis often performed 15-20 weeks
What is the risk of abortion as a result of amniocentesis 1 in 200 to 1 in 450
When is chorionic villus sampling performed 10-12 weeks
What is the benefit of CVS over amniocentesis Its availability earlier in pregnancy
What are some disadvantages of CVS over amniocentesis Higher rate of abortion, does not allow diagnosis of neural tube defects
What does PUBS stand for Percutaneous umbilical blood sampling
What are some benefits of PUBS Rapid result turnaround and the ability to perform the procedure in the second and third trimesters
Fetal movements associated with __ provide reassurance that the fetus is not acidotic or neurologically depressed Accelerations of fetal heart rate
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
What are high levels of maternal serum AFP associated with Open neural tube defects
__ levels in amniotic fluid appear to be more specific than the AFP test in predicting neural tube defects Acetylcholinesterase
Low levels of AFP in conjunction with estriol and comparatively high levels of hCG have been shoen to be predictive for __ Down syndrome
__ is the most common congenital cause of severe mental retardation with an incidence of about 1.3 per 1000 live births Down syndrome
What is the most common consideration in selecting women for diagnostic amniocentesis Advanced maternal age
After __ weeks both amniotic fluid and maternal plasma volume decrease 38
Created by: bwyche