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Prenatal Ultrasound and Genetic Tests

Most women have ultrasounds at specific stages of pregnancy to ensure the baby’s growth and development are on track. The most important ultrasound for checking this development, called an anatomic survey, occurs between 16 and 22 weeks of pregnancy. For women within the University Hospitals system of care, advanced prenatal ultrasound and testing services are offered at several locations.

As a patient at University Hospitals, you will likely have at least one prenatal ultrasound session and may also undergo genetic testing for early detection of any fetal genetic or malformation conditions. These tests are done – often together – to accurately diagnose any fetal issues and begin a treatment plan that spans pregnancy and post-delivery.

Expertise in Advanced Prenatal Ultrasounds

All anatomic surveys of unborn babies in the University Hospitals system are conducted by specially trained sonologists. These are physicians who are ultrasound specialists using high resolution 3-D and 4-D imaging for the most precise view of the fetus. This highly skilled and experienced physician, who knows what to look for, will evaluate the ultrasound scan. Additional ultrasounds are performed by sonographers -- technicians who specialize in OB ultrasound imaging and trained by an experienced team of clinical pediatric genetic specialists.

What We’ll Look for During a Prenatal Ultrasound

We’ll be looking for many different conditions during a prenatal ultrasound. Starting with maternal structures, we’ll look at the mother’s ovaries, cervix and uterus. Next, we’ll look at the placental location, how the baby is growing and developing, and fluid volume.

Then, we’ll look at the baby, including cord insertion, the different organ systems and spacing between and size of the eyes. We’ll take images of the spine and chest, including six views of the heart. This high level of detailed review of the heart is significantly more advanced than the industry standard of only one view. We’ll also look at the diaphragm, urinary tract and bowels in addition to the arms, hands, legs and feet.

3-D and 4-D ultrasound advanced imaging helps to more accurately diagnose fetal conditions such as:

  • Cleft lip/palate: Openings or splits in the upper lip or roof of the mouth.
  • Intracranial anomalies: Birth defects of the face or head
  • Hand anomalies: Birth defects of the hands
  • Congenital heart defects: Birth defects of the heart
  • Scoliosis: Curvature of the spine
  • Skeletal malformations: These conditions can be congenital or hereditary and include conditions such as club foot, developmental dysplasia of the hip, and congenital limb defects
  • Spina bifida: A birth defect where the backbone and membranes around the spinal cord are incomplete
  • Down Syndrome: Ultrasound can be used to assess risk for Down Syndrome and other chromosomal disorders when more invasive procedures are unwanted. In fact, many regional hospitals and physicians refer patients to University Hospitals for this service.

Advanced Fetal Testing and Procedures

About 3 to 5 percent of all babies are born with a birth defect. Many of these can be detected by specialized ultrasound exams. Our maternal fetal medicine specialists are trained in advanced sonographic techniques to accurately diagnose fetal malformations. This includes 3D and 4D ultrasound and advanced blood flow evaluation.

Our team has access to the most up-to-date and sophisticated genetic testing through the Center for Human Genetics, including routine chromosome evaluation, gene sequencing and targeted molecular genetic testing. We offer a broad range of fetal screening and testing procedures, such as:

First Trimester Genetic/Aneuploidy Screening

First trimester aneuploidy screening uses both ultrasound and blood tests to obtain information about genetic risks before the end of the first trimester. The screening can let parents know early on about the risk of having a fetus affected by genetic conditions such as Down Syndrome and Trisomy 18. Several severe birth defects can also be detected on a first trimester sonogram.

After a Diagnosis

If a test identifies an issue for your unborn baby, we work with other members of the UH team to conduct fetal boards or meetings where we discuss each case with diagnosed malformations or genetic defects. Together, we develop a plan for treatment both before and after the baby is born, including transitions of care. This team includes our maternal fetal medicine, obstetrics and pediatric teams, plus our radiologists, pediatric subspecialists and sonographers to provide detailed treatment options for you and your unborn baby.

Prenatal Genetic Counseling

Before conducting any tests, our team provides genetic counseling to help families understand testing options in a culturally sensitive manner so they can make the best possible decisions for their unique situation. Some of the reasons to seek or be referred for genetic counseling include:  

  • Abnormal maternal serum screen results
  • Advanced maternal age
  • Abnormal carrier screening test results
  • Family history of genetic disorders
  • Medication, environmental toxins exposure
  • Prior children with birth defects
  • Recurrent pregnancy loss