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Carrier Testing

Genetic Screening Consent Form

The American College of Obstetrics and Gynecology recommends offering genetic carrier screening to all pregnant women. Prenatal genetic screening is designed to assess the pregnancy for conditions for which prenatal diagnosis will optimize the management plan for the newborn and mother.

You can choose to opt out of screening and testing. The following is a description of the most common tests that might be offered.

Cystic Fibrosis carrier screening– this blood test will determine if you are a gene carrier. Additional testing and counseling would be recommended if the test is positive. Learn more…

Hemoglobin Electrophoresis – this blood test screens for genetic conditions that cause anemia such as Thalassemia and Sickle Cell. Additional testing and counseling would be recommended if the test is positive.

Fragile X carrier screening – Fragile X is the most common inherited cause of mental retardation. This blood test will determine if you are a gene carrier. Additional testing and counseling would be recommended if the test is positive. Learn more…

Spinal Muscular Atrophy carrier screening – Spinal muscular atrophy is genetic neuromuscular disorder that results in progressive muscle wasting and early death.This blood test will determine if you are a gene carrier. Additional testing and counseling would be recommended if the test is positive.

Ashkenazi Jewish carrier screening – women with Ashkenazi heritage are at increased risk for being carriers for several different genetic conditions. Additional testing and counseling would be recommended if the test is positive. Learn more…

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