Scientific explanation plus support groups comfort families

When Sue Salber looks through her microscope in the cytogenetics laboratory at Children’s Hospital of Philadelphia (CHOP), she knows that what she sees may bring devastating news to a parent. Identifying chromosomal abnormalities is almost always linked to unfortunate circumstances—the miscarriage of a baby, a newborn struggling for life, a child suffering from mental or physical disabilities. Yet, Salber’s work helps ensure that accurate diagnoses are made, and parents get the support they need.

“This is an institution that will be able to educate parents, put them in touch with support groups and give excellent follow-up and prognosis. We know they are in the right place and will get excellent care,” she says, noting that CHOP has been ranked as the best children’s hospital in the nation for the fourth year in a row by U.S. News & World Report.

As supervisor of cytogenetics, Salber schedules and oversees the work of eight technologists, handling more than 200 cases per month. When a geneticist identifies a need for testing, the lab is notified immediately. The technologists grow the blood or tissue specimens and study them for evidence of chromosomal abnormalities or store them for later study.

“A normal person has 46 chromosomes, 23 from mom and 23 from dad. Occasionally, due to an error in cell division, you can end up with an extra chromosome, as in Down syndrome, which is caused by an extra number 21,” Salber says.

There also are errors that occur where part of a chromosome is “missing,” as in DiGeorge syndrome which causes cardiac abnormalities, Salber says. “When a baby is transferred here, the geneticist first tries to rule out anything chromosomal. Usually a blood sample will be sent with an indication of the problem, which directs us to look at a specific chromosome. We are able to tell them whether or not that is, in fact, the problem.”

Salber learned the basic steps of tissue culture at Corielle Institute for Medical Research in New Jersey, a world-renowned cell bank that grows and ships specimens to researchers. This training led her to a position at Pennsylvania Hospital, as a supervisor in a cytogenetics lab that provided prenatal diagnoses on amniotic fluid. After 13 years there, Salber continued her supervisory career at the Camden University Hospital pediatric oncology unit, studying chromosome changes in children with cancer. She then worked in the cytogenetics lab at Crozier Chester Hospital before joining CHOP.

Drawn to prenatal and pediatric work, Salber expresses her own strong feelings about the need to be an advocate for children. Having spent three years in a foster home as a child, she saw many children who were not wanted or properly cared for. She and her siblings were ultimately reunited with the rest of her family, but the experience had a significant impact. “I learned very early that life will deal you whatever it will,” she says. “How you handle it and what you learn from it and each other can change it into something that will have a positive effect on you and others.”

In some cases, Salber’s work has reunited families who haven’t spoken in years. When a child was born with multiple abnormalities, a blood study revealed that a chromosomal translocation existed in the family. Contacting siblings with the information allowed them to monitor their own pregnancies and understand the potential risk, while also mending family fences.

Even for couples that have lost a baby, Salber believes cytogenetics can provide an opportunity to learn and heal. Testing done on a miscarried baby can reveal whether a chromosomal rearrangement has occurred and whether there is a chance of recurrence in a subsequent pregnancy.
“People put themselves through torture when they lose a child. If we can offer a scientific explanation for what happened, they can understand and go forward. They can see why a child did not come to full term, and why you would not wish it to because of the suffering that could occur. There is a healing in that, even if it is difficult to deal with at the time,” Salber says. “And, of course, there are trained genetic counselors to support families as they are going through difficult times. There is always hope.”

– Sharon Huss Roat, AS ’87