Is there a risk of transmitting genetic disorders to babies conceived through fertility procedures?

Laurence Boxer, MD, and colleagues from the University of Michigan and the Severe Chronic Neutropenia International Registry investigated the cases of five children conceived by in-vitro fertilization or donor insemination who had severe congenital neutropenia (SCN)—a genetic disorder characterized by abnormally low levels of certain white blood cells in the body. Because these white blood cells help fight bacterial infections by destroying invading bacteria, people with SCN are more susceptible to recurring infections and are at greater risk for developing leukemia.

The study results showed that the same sperm donor was used for all five pregnancies. After conducting advanced genetic testing, the authors established that the donor was the carrier of the gene, not the mothers. The sperm bank was informed of this evidence, and all remaining samples were discarded.

The authors conclude that, because it is presently difficult to screen for all conceivable genetic disorders, it is imperative that potential mothers be properly counseled and informed prior to the procedures. “The mothers need to be prepared that there is always an inherent risk of a genetic disorder being transmitted by the donor’s sperm,” says Dr. Boxer.

The study is reported in “Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations” by Laurence A. Boxer, MD, Steven Stein, B.A., Danielle Buckley, PhD, Audrey Anna Bolyard, RN, and David C. Dale, M.D. The article appears in The Journal of Pediatrics, Volume 148, Number 5 (May 2006), published by Elsevier.