Prenatal Genetic Risk Assessment Program

Now, more than ever, the health care community is aware of the growing liability and complexity of genetic testing and is challenged to determine its appropriate use for the prenatal patient. Our Prenatal Genetic Risk Assessment Program is designed to empower prenatal heath care providers to perform routine genetic screenings and testing in their respective practices.

The program consists of specific tools to help providers keep sufficient documentation, implement patient education and establish case management. Easily incorporated into clinical practice protocols, the program provides high quality, standard of care genetic screening for all pregnant patients. When a screening is provided in a prenatal health care provider’s office, patients are able to receive more comprehensive and efficient care, and the utilization of genetics specialists is limited to those patients with highly complex management issues.

Our Prenatal Genetic Risk Assessment Program has four components:

• On-site Professional Education - Customized, on-site education allows primary care providers to learn about managing the most common genetic risks. Educational programs are conducted by Genzyme Genetics board certified genetic counselors. To date, over 700 physicians, OB nurse clinicians and case managers have attended our program. All have rated it extremely valuable and highly applicable to their daily responsibilities. The initial session provides 2.4 nursing contact hours. Category 1 CME credits can be applied for if scheduled approximately three months in advance.
• Patient Questionnaire - This comprehensive screening tool includes the same genetic screening questions as the American College of Obstetricians and Gynecologists (ACOG) Antepartum Record. The patient completes the patient questionnaire (pdf), which has been market tested and shown to be user friendly and accurate. Our succinct patient questionnaire can replace the genetics portion of the ACOG form.
• Prenatal Risk Assessment Guide – Once the patient completes her questionnaire, the nursing staff can review it in the context of our Patient Risk Assessment Guide. This guide provides clear and concise information regarding the nature and incidence of genetic diseases and instructions for accurate assessment of genetic risk. For those patients identified to be at risk, the guide also includes standard of care management recommendations.
• Genetic Counseling Telephone Support – Board certified genetic counselors are available to support professionals who use the Prenatal Risk Assessment Guide. Board certified geneticists are available to discuss complex or unusual cases.

		Search by Test Name or Condition:
		Search by Test Name:
		Select a test .... Acetylcholinesterase (AChE) Testing AFP3® - Triple Marker Test AFP4® - Quadruple Marker Test Amniotic Fluid Alphafetoprotein (AFAFP) Testing Angelman Syndrome Protocol Angiotensin Converting Enzyme (ACE) Analysis Ashkenazi Jewish Carrier Testing Bloom Syndrome Mutation Analysis Canavan Disease Mutation Analysis CFTR Intron 8 Poly (T) Analysis Chitotriosidase Assay Cri-Du-Chat Microdeletion Analysis Cystic Fibrosis Expanded Mutation Analysis - CFplus™ Cystic Fibrosis Gene Sequencing Cytogenetics – Amniotic Fluid Chormosome Analysis Cytogenetics – Blood Chromosome Analysis Cytogenetics – Chorionic Villi Sampling Chromosome Analysis Cytogenetics – Chromosome Breakage Analysis (Blood) Cytogenetics – Products of Conception (POC) Chromosome Analysis DiGeorge/Velocardiofacial (22q11) Syndrome Microdeletion Analysis Fabry Disease Enzyme Analysis Fabry Disease Mutation Analysis by Sequencing Factor II (Prothrombin) G20210A Mutation Analysis Factor V Leiden Mutation Analysis Familial Dysautonomia Mutation Analysis Fanconi Anemia Group C Mutation Analysis FirstScreen™ - First Trimester Screening Fragile X Syndrome Mutation Analysis Gaucher Disease Enzyme Analysis Gaucher Disease Mutation Analysis Glycogen Storage Disease Type 1a Mutation Analysis InSight (Interphase FISH for Rapid Detection of X, Y, 13, 18, 21) IntegratedScreen™ - Integrated Screening Kallmann Syndrome Microdeletion Analysis Maple Syrup Urine Disease (MSUD) Mutation Analysis Maternal Cell Contamination Analysis Maternal Serum Alphafetoprotein (MSAFP) Screening Microdeletion Analyses Miller-Dieker Syndrome Microdeletion Analysis MTHFR (C677T) Mutation Analysis Mucolipidosis Type IV Mutation Analysis Niemann-Pick Disease Type A Mutation Analysis Pompe Disease Test Pompe Disease Mutation Analysis (GAA) by Sequencing Prader-Willi Protocol Preimplantation Genetic Diagnosis (PGD) - Aneuploidy Preimplantation Genetic Diagnosis (PGD) - Translocations Rh c/E Mutation Analysis Rh D Mutation Analysis SequentialScreen™ SerumIntegratedScreen™ - Integrated Screening Sickle Cell Anemia Mutation Analysis Smith-Magenis Syndrome Microdeletion Analysis Spinal Muscular Atrophy (SMA) Steroid Sulfatase Deficiency (X-linked Ichthyosis) Subtelomere Analysis Tay-Sachs Disease Mutation Analysis Tay-Sachs Enzyme Analysis (Hexosaminidase A) TRAP (Tartrate Resistant Acid Phosphatase) Williams Syndrome Microdeletion Analysis Wolf-Hirschhorn Syndrome Microdeletion Analysis Y Chromosome Microdeletion Analysis Zygosity Testing