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Indications for Prenatal Diagnosis

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
Purpose of prenatal diagnosis 1. informed consent 2. provide reassurance and reduce anxiety 3. allow at-risk couples a tool for testing
Non-Invasive methods 1. biochemical marker screening 2. US 3. Ultrafast MRI 4. Fetal Echocardiogram 5. Fetal cells in Maternal Blood
Minimally Invasive Methods 1. CVS 2. Amnio
Modterately Invasive Methods 1. PUBS 2. Fetoscopy/Embryoscopy 3. Fetal Skin & Muscle Biopsy 4. PGD
AMA Testing options 1. AFP 2. FT Screen 3. ST Screen 4. Diagnostic (CVS, amnio)
APA is defined as Paternal age of 45 or older, risk for new dominant DNA mutation, Risk for new X-linked conditions, Testing: US
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
If Low AFP or increased risk for Down syndrome on MS screen, 1. US 2. Amnio (AFP, chr)
If Increased risk for tri18 on MS screen, 1. US 2. Amnio (chr) 3. Echo for heart
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
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
Nasal Bone 1. tri21 marker 2. Fetal profile in midsagittal plane 3. controversial 4. likelihood increases at 13th (not 11th) week
Significant Family Hx 1. Chr. abn. 2. Balanced translocation 3. Genetic disorder 4. Birth defect 5. MRDD 6. Multiple miscarriages/SABs 7. Testing offered
High Risk Ethnic Background: AJ 1. Tay Saches 2. Gaucher 3. Canavan 4. CF
High Risk Ethnic background: African American 1. SCD 2. Hemoglobin C 3. Alpha Thalassemia 4. Beta-Thalassemia 5. Testing offered
High Risk Ethnic Background: Italian/Med 1. Beta-Thal
High Risk Ethnic Background: SE Asian 1. Alpha-Thal
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
High Risk Ethnic background: Caucasian 1. CF
French Canadian/Cajun 1. Tay Sachs 2. DNA testing offered a part of the AJ panel
Teratogenic Exposures 1. Maternal DOs 2. Medications 3. Recreational/abused substances 4. Infections 5. Toxic chemicals 6. Radiation
Consanguinity 1st cousins have a 6-7% increased risk of AR conditions so offered targeted US
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
Created by: Kali Chatham Kali Chatham

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