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Laura_Amendola_ Lecture Slides

Weeks after a womans last menstrual period circle6

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between 11-14 weeks after a woman’s last menstrual period circle6 blood test circle6 free-beta hCG and pregnancy-associated protein A (PAPP-A) circle6 levels of PAPP-A tend to be decreased, and hCG increased, with Down syndrome. circle6 ultrasound examination circle6 detection rate circle6 80 to 90 % of pregnancies affected by Down syndrome circle6 Up to 95 % of pregnancies affected by trisomy 18
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Second Trimester Screening Tests circle6 Quad Screening: circle6 Maternal blood test performed at 15-22 weeks. circle6 Indirect measurement of fetal AFP, hCG, uE3 and inhibin A production circle6 Down Syndrome square4 80% detection over 35y of age circle6 Trisomy 18 square4 70% detection circle6 Open neural tube defects square4 80-90% detection circle6 Does not detect all chromosomal abnormalities associated with maternal age circle6 False positive – 5 %
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Ultrasound Screening circle6 Can detect many major birth defects. circle6 Some fetuses with chromosomal abnormalities have characteristics that can be seen by ultrasound as "markers", but others have no visible anomalies. circle6 Ultrasound can NOT diagnose chromosome abnormalities.
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Diagnostic Tests: CVS circle6 10-12 weeks of gestation circle6 Single gene and chromosome disorders only circle6 NTD tested by blood test (AFP) and ultrasound circle6 1% - 1.5% chance of miscarriage circle6 1% - 2% chance of unclear results bright amnio
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Chorionic Villus Sampling (CVS)
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Diagnostic Tests: Amniocentesis circle6 16-22 weeks of gestation circle6 Single gene and chromosome disorders and open neural tube defects circle6 0.5% - 1% chance of miscarriage
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Amniocentesis
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Mary 35 years old John 35 years old 16 weeks gestation Results: Abnormal Quad Screen - increased risk for Down syndrome Prenatal Counseling Norwegian Ancestry Consanguinity is denied
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High-resolution ultrasound at 16-20 weeks: Screening test or diagnostic test? ~ 50% of fetuses with Down Syndrome have: circle6 Thickness of skin at back of neck bup circle6 Length of thigh and upper arm bones bdown circle6 Intestines white in color (normally gray) circle6 Heart defect circle6 Fluid in kidneys bup
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Diagnostic testing: Down syndrome circle6 Mary and John are understandably upset and agree to further testing. Mary had an amnio and a week later, results show that the fetus has the most common form of Down syndrome, trisomy 21.
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Trisomy 21 – Down Syndrome
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Decision circle6 Continue the pregnancy? circle6 Terminate the pregnancy? circle6 What if the couple disagrees?
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Adult Counseling: Predictive Testing circle6 Anne, a 23-year-old woman, goes to her first appointment with her new gynecologist. In taking her history, the doctor notes that several of Anne's family members have had cancer. circle6 Her paternal grandmother died at the age of 40 of breast cancer, two of her four paternal aunts died in their early 50s of ovarian cancer, and a third paternal aunt has recently been diagnosed with breast cancer at the age of 39.
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