By Jason Picconi, MD, PhD
Pregnancy is a natural process that the human body is designed to perform. But sometimes abnormalities are discovered and may require a maternal-fetal medicine provider to help better understand the condition. Whether spotted during an ultrasound or on a lab test, these abnormalities can have serious implications for both baby and the parents. This is where a consultation with a maternal-fetal medicine specialist can be of great help in understanding why and how these things happen. A specialist can help develop a specialized care plan to see you through the pregnancy for a healthy baby and mother.
Genes are inherited directly from your parents. They pass information and patterns from generation to generation, like eye color and blood type. They can also pass on medical conditions that can impact a pregnancy or require additional care. Genetics is the hand you are dealt and the hand you deal your child.
Talk about family medical history
Understanding your family’s medical history can help you and your provider prepare a specialized care plan to understand any conditions that may harm the pregnancy or worsen the condition of the mother. If you or your partner have a personal or family history of a medical condition like cystic fibrosis, sickle cell disease or congenital heart defects, visiting with a maternal-fetal medicine provider can help provide a full picture of how those genes, whether you have the condition or are just a carrier, can impact your pregnancy.
Certain groups of people can be more likely to carry these types of diseases. People who are of Ashkenazi Jewish, French Canadian, Southwest Asian, Mediterranean Middle Eastern, Amish, Mennonite or Hutterite populations may be referred to genetic testing prior to pregnancy to determine the risk of these conditions.
Prenatal genetic screening test
During your first and second trimesters, screening for common medical conditions is done through a combination of blood tests and ultrasounds, to look for conditions like Down syndrome, Turner syndrome or spina bifida. These conditions are genetic in the sense they result from abnormalities in the DNA, but they are not inherited from the parent. They occur randomly and the risk can be related to the mother’s age.
It’s important to note that these screening tests can have false positives, so a referral to maternal-fetal medicine can help clarify the risk of these conditions and help to answer your questions. At your 20-week checkup, we can make a more concrete diagnosis.
Genetic anatomy ultrasound
The 20-week anatomy ultrasound is when most parents first get to view their baby. Most of the time, these ultrasounds do not show any abnormalities. In those rare times when they do, your doctor may refer you to a maternal-fetal medicine specialist for a more detailed ultrasound to fully evaluate your baby, take the time to explain the ultrasound findings and provide options for genetic testing either by a blood draw or an amniocentesis (a sampling of the fluid surrounding the baby), to get you the information you need for your pregnancy.
