Families with rare diseases don’t have to give up on having children

Patients and families with rare genetic disorders, and people who have not developed a rare genetic disorder but carry a gene mutation, often give up trying to have a child. That’s because they think they will not be able to give birth to a healthy child.

However, not all patients, families, and carriers of genetic mutations have the means to give birth to a healthy child. Through prenatal counseling and preimplantation genetic testing, they can give birth to healthy children, an expert said.

Professor Kim Soo-yeon of the Department of Clinical Genomics at Seoul National University Hospital explained that patients with rare diseases are given various types of counseling these days, of which prenatal counseling is crucial. Prenatal counseling aims to give birth to the next generation of healthy children.

Professor Kim said so on Wednesday at the 2nd On-Dream Rare Disease Joint Symposium on “Moving Rare Diseases One Step Forward for the Future Generation” held at Seoul National University Children’s Hospital,

Prenatal counseling starts with a rare disease diagnosis. While there are some rare diseases for which the cause, course, and prognosis of the patient’s disease are known, there are some rare diseases for which the name of the disease is still unknown.

“For undiagnosed rare diseases, it is impossible to target preimplantation genetic testing for prevention,” Professor Kim said. “So, it is recommended to combine prenatal counseling with efforts for final diagnosis.”

Specific prenatal counseling and planning are done when a rare disease is diagnosed.

“Once diagnosed, the exact type of disease depends on how aggressive the prenatal counseling and planning will be,” Kim said. “Depending on the age of first onset and how severe the symptoms are, preimplantation genetic diagnosis can be used to plan a pregnancy. If the onset is late and the patient is still able to live with current treatments, a normal pregnancy and childbirth can be planned, and the appropriate medical procedures can be determined.”

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Sources : KBR (https://www.koreabiomed.com)

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