Early detection

Test quickly diagnoses genetic conditions in babies

picture of a newborn.Having a baby is a joyous event but can be nerve-wracking, even when the baby is the picture of health.

Now imagine being the parent of an infant who has a congenital anomaly, a developmental delay or an autism spectrum disorder. Three months is the average wait time faced by parents to learn the nature of their child’s health issue, the severity of it and the help the baby needs.

The clock is ticking, precious time is lost. Anxiety abounds.

Yet this time doesn’t have to slip away. Parents now have the option of rapid-turnaround, Food and Drug Administration-approved microarray testing to diagnose genetic conditions, done at the UT Health Science Center. The Clinical and Molecular Cytogenetics Laboratory of South Texas Reference Laboratories, in the Department of Pathology, recently became certified to offer Affymetrix CytoScan® Dx Assay microarray testing.

“The sooner you identify the underlying cause of these children’s medical conditions, the better the outcomes for the children in the long run,” said Veronica Ortega, B.A., CG (ASCP)CM, manager of the laboratory. “We can confirm the common abnormalities within 24 hours, which is a relief for families because conditions are diagnosed sooner so that the parents can pursue better care options for their children.”

Gopalrao Velagaleti, Ph.D., FACMG, professor of pathology, pediatrics and clinical laboratory sciences and director of the cytogenetics laboratory, said microarray testing is the first line of testing for children with these conditions. It is widely used already, he said, but the Health Science Center is the only institution offering an FDA-approved assay within a region including Texas, Oklahoma and Mississippi.

“It is a tremendous benefit to some of these families to know the underlying cause of their child’s condition, and what the typical outcome is for other babies with similar diagnoses,” said Steven Seidner, M.D., professor of pediatrics at the Health Science Center and the medical director of the Neonatal Intensive Care Unit at University Hospital. “Occasionally this knowledge will also change our management of the baby, including the timing of needed surgeries.”

Testing also tells families whether the child has a new mutation that likely will not recur, or whether there is a strong pattern of inheritance in the family.

“We can often learn whether this is something of major concern to parents in future pregnancies,” Dr. Seidner said.

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