With pregnancy comes a lot of questions, regardless of the number of times you’ve been a mother. When will you deliver? Is your baby a boy or a girl? What should you name him or her? There can also be questions surrounding personal health and your baby’s health.
Your health care provider may order prenatal tests as early as your first visit. There are two types of prenatal tests: screening tests and diagnostic tests. Screening tests typically include an answer of increased screening, not a positive or negative result. involves a blood test first and second trimester. Diagnostic prenatal testing, such as the Materniti 21 is used to confirm an official diagnosis.
The second trimester maternal screening test (also called the “triple screen” or “quad screen”) usually takes place between 16 and 20 weeks.
Similar to the first trimester screening, the second trimester screen uses a sample of the mother’s blood together with her age to assess the baby’s risk for Down syndrome and trisomy 18.
• An open neural tube defect. When the neural tube fails to close, the baby is born with an opening in the head (anencephaly) or spinal cord (spina bifida). Babies with anencephaly are stillborn or die soon after birth; those with spina bifida need surgery and may be paralyzed. The severity of spina bifida can vary greatly. One way to reduce your risk of having a child with a neural tube defect is to take folic acid (400 micrograms per day) before conception.
• Down syndrome (also called Trisomy 21). An extra copy of chromosome 21 causes Down syndrome, characterized by mental retardation, certain facial features and sometimes, heart defects.
• Trisomy 18. An extra copy of chromosome 18 causes this syndrome, which usually proves fatal during the first year of the baby’s life and is associated with severe mental retardation.
When an untreatable genetic disorder is diagnosed prenatally, parents have the option of continuing or terminating the pregnancy. A genetic counselor can help you learn more about the disorder and weigh your options in a neutral setting. The decision is a tough one, and parents may weigh such factors as whether the disorder can be treated, the family’s ability to manage the disorder or disability, the extent to which an affected child will be disabled or in pain, and how long the child is likely to live.
These kinds of decisions are extremely difficult to navigate alone, which is why it is recommended to navigate them with your healthcare provider. Even if you don’t have any risks of having a genetic disorder, you can still talk to your healthcare provider about taking the tests for peace of mind. Schedule an appointment today.