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Prenatal Genetic Counseling Program Work and What Genetic Screening Can Help Reveal

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Prenatal Genetic Counseling Program Work and What Genetic Screening Can Help Reveal Pregnancy can be an exciting time for parents, but also a time of uncertainty— especially if there are genetic health concerns. The expert team of physicians and genetic We encourage patients to speak with their counselors at the Weill Cornell Medicine healthcare provider about their family history Prenatal Genetic Counseling Program work and what genetic screening can help reveal. closely with each patient to evaluate the To schedule an appointment chance that a pregnancy may be affected by a genetic condition, explain the limitations and with a genetic counselor, benefits of genetic testing, and assist with the please call 212-746-3045 interpretation of genetic testing results. Prenatal Genetic Counseling Program Genetic counselors are healthcare professionals with specialized education and training in genetics who provide information to guide and support What you should know about decisions being made about one’s genetic prenatal genetic screening health. You may consider seeing a genetic counselor if you: Call 212-746-3045 to Speak With a Genetic Counselor Today. - Want more information regarding genetic Notice of Nondiscrimination screening or diagnostic testing in pregnancy English 繁體中文 (Chinese) Weill Cornell Medicine complies with applicable Federal Weill Cornell Medicine 遵守適用的聯邦民權法律規定，不 - Have received an abnormal screening civil rights laws and does not discriminate on the basis of 因種族、膚色、民族血統、年齡、殘障或性別而歧視任何人。 or ultrasound result in pregnancy race, color, national origin, age, disability, or sex. 注意：如果您使用繁體中文，您可以免費獲得語言援助服 ATTENTION: If you speak another language, language 務。請致電 1-800-876-3059（TTY：1-212-477-0775）。 assistance services, free of charge, are available to you. Call 1-800-876-3059 (TTY: 1-212-477-0775). Русский (Russian) - Are concerned about a genetic condition Weill Cornell Medicine соблюдает применимое Español (Spanish) федеральное законодательство в области or disease in your family Weill Cornell Medicine cumple con las leyes federales de гражданских прав и не допускает дискриминации derechos civiles aplicables y no discrimina por motivos по признакам расы, цвета кожи, национальной de raza, color, nacionalidad, edad, discapacidad o sexo. принадлежности, возраста, инвалидности или пола. - Or your partner is a carrier for ATENCIÓN: si habla español, tiene a su disposición ВНИМАНИЕ: Если вы говорите на русском языке, то weillcornell.org servicios gratuitos de asistencia lingüística. Llame al вам доступны бесплатные услуги перевода. Звоните a genetic condition 1-800-876-3059 (TTY: 1-212-477-0775). 1-800-876-3059 (телетайп: 1-212-477-0775). Genetic Screening Diagnostic Genetic Carrier Screening in Pregnancy Testing in Pregnancy - Blood test on parents before/early in pregnancy Nuchal Translucency Chorionic Villus Samplings (CVS) - If both parents are carriers for the same genetic condition, they are at increased Measurement - Done at approximately 10–13 weeks gestation risk for having a child with that disease - Sonogram at approximately 11–14 weeks - Placental sample obtained for genetic testing - Examples of common diseases tested for - Abnormal nuchal measurement can be - Types of testing that can be done on sample: carrier screening include: associated with chromosome conditions - Chromosome analysis/karyotype - Cystic Fibrosis - Microarray - Alpha Thalassemia First Trimester/Nuchal Screen - Mutation specific testing (if warranted) - Spinal Muscular Atrophy - Finger prick blood test - Tay Sachs Disease - Screens for Down Syndrome, Amniocentesis Trisomy 13 and Trisomy 18 - Can be done as early as 15 weeks gestation - Considered less accurate than - Small sample of amniotic fluid obtained for cell-free DNA testing - Types of testing that can be done on sample: Cell free DNA/Non-Invasive - Chromosome analysis/karyotype Prenatal Testing (NIPT) - Microarray - Blood draw as early as 9–10 weeks - AFP testing gestation - Mutation specific testing (if warranted) - Screens for Down Syndrome, Trisomy 13 and Trisomy 18 and sometimes Speak to your OB/genetic counselor about abnormalities of the sex chromosomes limitations and risks with CVS and Speak with your OB/genetic counselor about (e.g. Turner Syndrome, Klinefelter amniocentesis to determine which of these which carrier screening panel is right for you. Syndrome) options is best for you. - High sensitivity but does NOT replace diagnostic testing - Tests maternal blood for free floating (cell free) placental DNA weillcornell.org.
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