Indications for Prenatal Diagnosis
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| Incidications for Prenatal Diagnosis | 1. Positive family Hx 2. Previous child with chr. abn. or ONTD 3. Carriers of a balanced translocation 4. Carriers of a metabolic d.o. 5. Consanguinity 6. High risk ethnic background 7. AMA 8. APA 9. Abn. US findings 10. Teratogenic exposures
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| Purpose of prenatal diagnosis | 1. informed consent 2. provide reassurance and reduce anxiety 3. allow at-risk couples a tool for testing
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| Non-Invasive methods | 1. biochemical marker screening 2. US 3. Ultrafast MRI 4. Fetal Echocardiogram 5. Fetal cells in Maternal Blood
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| Minimally Invasive Methods | 1. CVS 2. Amnio
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| Modterately Invasive Methods | 1. PUBS 2. Fetoscopy/Embryoscopy 3. Fetal Skin & Muscle Biopsy 4. PGD
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| AMA Testing options | 1. AFP 2. FT Screen 3. ST Screen 4. Diagnostic (CVS, amnio)
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| APA is defined as | Paternal age of 45 or older, risk for new dominant DNA mutation, Risk for new X-linked conditions, Testing: US
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| IF Elevated AFP, | 1. Targeted US (Gest. Age, Multiples, Anomalies) 2. Repeat AFP is borderline 3. Amnio 4. NST 5. Other maternal blood tests (Liver, Kleihauer-Betke
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| If Low AFP or increased risk for Down syndrome on MS screen, | 1. US 2. Amnio (AFP, chr)
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| If Increased risk for tri18 on MS screen, | 1. US 2. Amnio (chr) 3. Echo for heart
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| If increased risk for Down syndrome or tri18 as determined by first trimester screen, | 1. US 2. CVS 3. Amnio (chromes) 4. Echo at 20-24 weeks
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| Abnormal US findings | 1. Confirmed or suspected fetal anomalies 2. Markers for aneuploidy 3. Abn fetal growth 4. Abn extraembryonic structures (UC, placenta) 5. Abn. AFV 6. Abn. doppler 7. Testing offered
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| Nasal Bone | 1. tri21 marker 2. Fetal profile in midsagittal plane 3. controversial 4. likelihood increases at 13th (not 11th) week
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| Significant Family Hx | 1. Chr. abn. 2. Balanced translocation 3. Genetic disorder 4. Birth defect 5. MRDD 6. Multiple miscarriages/SABs 7. Testing offered
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| High Risk Ethnic Background: AJ | 1. Tay Saches 2. Gaucher 3. Canavan 4. CF
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| High Risk Ethnic background: African American | 1. SCD 2. Hemoglobin C 3. Alpha Thalassemia 4. Beta-Thalassemia 5. Testing offered
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| High Risk Ethnic Background: Italian/Med | 1. Beta-Thal
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| High Risk Ethnic Background: SE Asian | 1. Alpha-Thal
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| Testing offered for Afr.Am, Italian/Med, and SE Asians | 1. CBC for decreased MCV or MCH 2. Hemoglobin electrophoresis 3. Ferritin 4. DNA analysis for carrier and diagnostic testing
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| High Risk Ethnic background: Caucasian | 1. CF
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| French Canadian/Cajun | 1. Tay Sachs 2. DNA testing offered a part of the AJ panel
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| Teratogenic Exposures | 1. Maternal DOs 2. Medications 3. Recreational/abused substances 4. Infections 5. Toxic chemicals 6. Radiation
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| Consanguinity | 1st cousins have a 6-7% increased risk of AR conditions so offered targeted US
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| Testing offered for Teratogenic exposures | 1. US 2. Fetal Echo 3. Maternal Blood (MSAFP, Infections, Antibodies, Drug levels) 4. Amnio (Cultures, PCR for specific infections, AFP, ACHE) 5. NST
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