Prenatal Diagnosis and Treatment Program

Lehigh Valley Health Network (LVHN) offers a genetic testing program that is among the most advanced in the country. The Prenatal Diagnosis and Treatment Program is available through our Division of Maternal and Fetal Medicine, which provides the highest level of care for fragile, high risk or complicated pregnancies.

LVHN providers closely watch you for potential problems or complications, especially if your pregnancy is considered high risk. Using state-of-the-art equipment, we can evaluate your baby’s growth and development from the earliest stages of pregnancy all the way through to the time of delivery. Our goal is to gather information and, at the same time, reassure you about the health of your pregnancy.

When there are conditions that might threaten your developing fetus, we start by using non-invasive technology, which means that there is no break in the skin to evaluate you. Ultrasounds are an example of non-invasive tests. These tests pose little to no risk to you and your baby. At LVHN, our maternal fetal medicine and obstetrics and gynecology physicians and office practices are accredited by the American Institute of Ultrasound in Medicine (AIUM).

Some tests and procedures, however, do carry risks to you, your baby or both. These are called invasive tests. Invasive testing means that your physician would use an instrument to physically enter your body, like having a biopsy. Your maternal fetal medicine specialist will discuss these risks with you, answer your questions and address any concerns you may have. You and your baby’s health and safety is our primary focus.

Prenatal genetic testing

Genetic testing involves taking a sample of DNA (chromosomes, genes or proteins) through a variety of methods and then testing it for the presence of genetic abnormalities. For those who are pregnant, or wish to become pregnant, these tests are offered:

  • Carrier testing: This test identifies whether you carry a gene that can be passed onto your children and make them susceptible to developing a disease or becoming a carrier. This test may be recommended if there is a family history of a disease, or if you belong to an ethnic group that is at a higher risk for certain diseases.
  • Prenatal screening: We use blood tests and ultrasounds to detect genetic disorders.
  • Noninvasive prenatal testing (NIPT): This test is performed during pregnancy to determine if your fetus has a specific disease.

In some cases your child may be born with a condition that needs to be evaluated. In these situations, we perform newborn screening. Shortly after birth, we offer testing to identify the presence of a genetic abnormality that could be problematic for your baby’s health and development.

In addition to identifying possible concerns, genetic testing can also help identify treatments.

When is prenatal testing necessary?

Our Perinatal Genetics Program team is comprised of maternity fetal medicine physicians, advanced practice clinicians and genetic counselors who work closely together to provide you with state of the art prenatal testing and genetic counseling services. Depending on your level of risk for a family-linked condition, our certified genetic counselors can provide information and guidance. We help identify which prenatal tests would be beneficial for you and help you make sense of test results. We’ll tell you exactly what they mean for your pregnancy and make sure you are comfortable with all the information.

What genetic disorders can be found with genetic testing?

Currently genetic testing can identify 30 to 40 genetic conditions, including:

  • Down syndrome: A genetic disorder linked to an extra copy of chromosome 21 that causes developmental and intellectual delays
  • Spina bifida: A birth defect where the baby’s spinal cord does not completely develop, causing mobility issues, seizures or bowel/bladder problems

Non-invasive prenatal tests (NIPT) available

If you have a high-risk pregnancy, your provider – with the help of genetic counselors – will carefully watch for potential problems or complications. Depending on your needs, we offer comprehensive testing during pregnancy to monitor the genetic health of you and your baby.

Choose Your Provider

Our providers support you before, during and after pregnancy. Choose from board-certified obstetricians and maternal fetal medicine specialists to deliver the care you need.

Find a Doctor

Whole woman care

Our gynecologists focus on your total well-being, including mental health and weight management. We want you to feel your best – no matter what.

Find a gynecologist

High-risk pregnancy care

LVHN offers leading-edge maternal fetal medicine services – 24 hours a day, 7 days a week – for high-risk pregnancies.

Learn more