Laura_Amendola_ Lecture Slides

Cystic fibrosis population group approximate mutation

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Cystic Fibrosis Population Group Approximate Mutation Detection Rate Approximate Carrier Frequency North American Caucasian 80-85% 1 in 25 Ashkenazi Jewish 95% 1 in 29 African American 64% 1 in 61 Mexican 58% ---
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Preconception Counseling Caucasian Ancestry Sally 32 years old Mike 35 years old CF Risk Calculation 1/25 X 1/25 X ¼ = 1 in 2500 for this couple to have an affected child
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Diagnostic Testing: Cystic Fibrosis circle6 Baby Claire, is seen for her six-month check-up. The pediatrician notes that Claire is not gaining weight as she should, and asks Claire's mother how her daughter's feeding has been. circle6 She says that her appetite is good, and her feedings are regular and normal, but she comments that her stools are unusually heavy and look greasy . circle6 The doctor discusses the possibility of cystic fibrosis. The mother asks if genetic testing is available for cystic fibrosis. The doctor tells her it is, but that sweat chloride testing is much more accurate and is the best way to tell if Claire has the disorder.
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What is the chance that their next child will be affected? Claire 6 months growth delay Caucasian Ancestry
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Question for Thought circle6 Does this couple have a moral responsibility to NOT conceive another child unless they are willing to do prenatal testing with termination of affected pregnancies?
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BREAK TIME…
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Prenatal Counseling Mary 35 years old John 35 years old 4 weeks gestation Norwegian Ancestry Consanguinity is denied
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Goals of Prenatal Diagnosis circle6 To provide a range of informed choices to couples at risk of having a child with an abnormality circle6 To allow couples at risk of having a child with a specific birth defect to begin a pregnancy with the knowledge that the presence or absence of the disorder in a fetus can be confirmed by testing circle6 To help facilitate a plan that fits with the couple’s needs and values circle6 To provide reassurance and to reduce anxiety, especially among high risk groups
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Goals … circle6 To guide preparation and management for the impending birth of a child with a genetic disorder circle6 e.g. psychological preparation, pregnancy/delivery management, and postnatal care circle6 To enable prenatal treatment of the affected fetus (if available)
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Prenatal Testing: Screening vs. Diagnostic tests circle6 Screening tests identify women who are candidates for further diagnostic tests. circle6 False positives and false negatives can and do occur with screening tests; most patients do not understand this. circle6 The vast majority of diagnostic prenatal tests require a procedure that has an associated risk to the fetus.
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Prenatal Screening circle6 Maternal Age circle6 Ultrasound circle6 Maternal Serum AFP circle6 Triple Screen circle6 Quad Screen circle6 First Trimester Screen Second Trimester
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Maternal Age Screening AGE Risk for Down Syndrome (Livebirth) 25 1 in 1350 30 1 in 901 35 1 in 385 40 1 in 110 Harper, P. Practical Genetic Counseling. 2004 page 67
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First Trimester Screening circle6
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