Perinatal Genomics Program

What is Perinatal Genomics?

Perinatal genomics is the focus on genetic changes that may cause health problems before a baby is born or shortly after birth. Often, genetic changes are part of what makes us unique, while other changes can lead to health problems – and those are the changes the Perinatal Genomics Program diagnoses and treats.

Studies have shown that at least 10% of babies in a NICU may have a genetic cause for their symptoms. Those same studies have shown that if we can identify the baby’s genetic problem, then we can make improvements to their medical care.

Our highly skilled team of prenatal genetic counselors, maternal-fetal medicine specialists, neonatologists, geneticists, and other healthcare providers work together to care for these patients whether a health problem is diagnosed before or after birth.

Prenatal genetic counseling vs. perinatal genomics

Prenatal genetic counseling is focused on the period right before birth and helping mothers with an increased chance of a child with a birth defect based on a genetic condition. While perinatal genomics includes the period right before and after birth, encompassing both the prenatal and postnatal period. Our program is unique in that we provide comprehensive support not only before birth, but after birth in the NICU.

What are common symptoms of genetic problems?

Many different symptoms may suggest an underlying genetic problem. This can include congenital heart defects, problems with growth or being born small, or problems with the brain. Sometimes, a patient’s symptoms are characteristic for a particular genetic diagnosis. If that’s the case, we will conduct a genetic test to make a diagnosis. When a patient’s symptoms aren’t characteristic to one diagnosis, studies have shown that whole genome sequencing is the best test to find the genetic answer we need to care for your baby.

Whole genomic sequencing (WGS)

WGS is a test in which a DNA sample is taken from the baby and both parents, and genetics specialists evaluate all parts of the DNA to see if there is a problem that can explain the symptoms. Why is it important to look at all the DNA? There are thousands of different genetic problems that can cause symptoms. Since there are so many possibilities, it’s best to perform WGS and look at all the DNA soon after a baby arrives in the NICU. Here at Riley Children’s, we are one of only a few centers in the country using this test, and it is transforming how we care for our patients.