Genetic Counseling Provides Answers to Expectant Families

Being an expectant mother can be nerve-wracking, especially if you are considered a high-risk pregnancy or have a family history of certain genetic disorders. Genetic counselors at Lehigh Valley Health Network (LVHN) can help by providing important information about whether your child is at risk for a genetic disorder.

Genetic counselors at LVHN are master’s-level health care professionals who have passed an exam to certify their knowledge. Their goal is to gather information about your family history and the family history of your partner so they can recommend any tests that may be beneficial to you and your baby.

“Genetic counseling can be an important tool for women who are at an increased risk for having a child with certain medical conditions. In addition to helping the parents, extra screening can prepare the medical team in the event the baby needs special care at birth,” says Jessica Barry, genetic counselor, LVPG Maternal Fetal Medicine–Hamilton Blvd.

At LVHN, expectant mothers are given information about genetic screening during one of their first obstetric appointments. While genetic counseling is available to all expectant mothers, Barry says it is especially recommended for pregnant women over the age of 35. Genetic counseling also is recommended for:

• Couples who have an increased risk for a genetic condition
• Couples with family history of a birth defect, autism spectrum disorder or intellectual disability
• Women with a history of several miscarriages or other complex obstetric history

In some cases, genetic counseling may be available prior to pregnancy. “If you have a specific concern about risks for a future pregnancy, preconception genetic counseling is available. Some types of screening can be done prior to a pregnancy and may influence a couple’s options for pregnancy conception,” says Barry.

According to Barry, results from preconception genetic counseling can help women and couples plan for an upcoming pregnancy by providing recommendations about additional consults, ultrasounds and monitoring that may be needed.

Some screening and testing can only be done during pregnancy, such as screening for chromosome anomalies or birth defects.

Expectant mothers at LVHN are routinely offered a variety of screening options during their pregnancy. The most common, cell-free DNA screening or non-invasive prenatal testing (NIPT), screens for Down syndrome, trisomy 18 and trisomy 13 through a simple maternal blood test. Results generally take one to two weeks and the test can also predict the sex of your baby with over 99 percent accuracy. The test is usually done at 10-12 weeks gestation.

“These conditions typically happen randomly and without any significant family history, though women over 35 are at an increased risk to have a pregnancy affected with one of these conditions,” Barry says.

Women are also offered the option to test for autosomal recessive genetic conditions (“carrier screening”) such as cystic fibrosis and spinal muscular atrophy. These conditions also may occur even without significant family history or other risk factors.

Screening for genetic conditions during pregnancy can come with many benefits, even if you are not considered to be at a high risk for certain genetic conditions. Some women use the information to make informed decisions about pregnancy management and prepare for any complications or medical concerns that may arise during the pregnancy or at birth.

However, genetic screening may not be for everyone. “Genetic screening is not the right choice for all individuals, couples or families,” Barry says. “However, we urge you to at least go for genetic counseling. As genetic counselors, our primary goal is to make sure you are appropriately educated on the screening and testing options available during pregnancy so you can make an informed decision.”