Obstetrician Elizabeth Whistler asked for a bioethics consultation to consider the request of Charles and Amanda Harrelson for genetic testing and a possible elective abortion. Mrs. Harrelson, who was pregnant for the first time, was three months into an apparently normal pregnancy. She and her husband were both achondroplastic dwarfs. They seemingly were financially comfortable and well adjusted to their physical conditions. They had requested testing of their developing fetus for evidence of achondroplasia.

Achondroplastic dwarfism is a bone growth disorder in which cartilage is not properly converted into bone. Adult males develop to an average height of about four feet, four inches; females average about three inches shorter. While trunk size is normal, arms and legs are short and the head is enlarged, featuring a prominent forehead. Intelligence is generally normal. Physical problems include bouts of apnea (periods in which breathing stops), obesity, bowed legs, and abnormalities of the lower back. Back pain is common in older people with the condition.

The condition results from a mutation in a single gene, the FGFR3 (fibroblast growth factor 3) gene. It occurs once in every 15,000 to 40,000 births, but if both parents have the gene, one child in four will inherit two copies, which results in severe defects, usually stillbirth or death from respiratory failure soon after birth. One child in four will not inherit any copies and will not be affected. Two in four will inherit one copy and have dwarfism, the same characteristic as their parents.

Prenatal diagnosis for the presence of the abnormal gene is available. Since incidence is so rare, if neither parent has the condition, testing would not normally be carried out. If both parents are affected, then testing would be indicated. Any fetus with two copies of the gene could be aborted.

Dr. Whistler was discussing the diagnostic procedure with Mr. and Mrs. Harrelson and helping them understand their options when she realized that their intention was to abort not only any fetus with two copies of the gene (resulting in severe defects) but also any fetus with no copies (an unaffected fetus). If the fetus was not achondroplastic, they would have the pregnancy aborted because they did not want to rear a child obviously different from themselves.

What, if any, morally justifiable reasons do the Harrelsons have for their preference to have a child with Dwarfism? What role do you think Dr. Whistler should play in counseling the Harrelsons?