CF and Other Hereditary Conditions Influence Parents’ Views of Prenatal Testing

Parents of a child born with a severe genetic condition such as cystic fibrosis (CF) are greatly affected by their child’s illness and likely to favor early prenatal testing of future pregnancies, researchers at Plymouth University, U.K., report. Their study, “Impact of fetal or child loss on parents’ perceptions of non-invasive prenatal diagnosis for autosomal recessive conditions,” was published in the journal Midwifery.

Professor Heather Skirton, a professor in health genetics, and colleagues interviewed 17 parents (four men and 13 women) who were carriers of a serious autosomal recessive disorder — like cystic fibrosis, spinal muscular atrophy, or thalassemia —  and had a child, living or deceased, with the disease.

The researchers found that these parents, due to their experiences, had strong views regarding non-invasive prenatal testing.

Parents said they had started their reproductive journeys “naively,” and described feelings of reproductive vulnerability after the child’s diagnosis, and a consequent realization of the risks posed to future children. They viewed non-invasive prenatal testing, which poses little danger to a fetus, as a way to increase knowledge by allowing for prenatal diagnosis.

All humans carry some variants for recessive diseases, but those with a normal copy of disease-causing gene are typically healthy. For this reason, parents may not be aware that they could be carriers of genetic conditions.

Team members began their research while studying a new prenatal blood test that can be performed at the ninth week of pregnancy. The non-invasive test detects genetic conditions, giving parents at an early stage an option of continuing or terminating a pregnancy.

Professor Skirton recommended that midwives, especially, consider the test to help vulnerable parents.

“The study showed that the impact of losing a child to one of these conditions, or knowing their child is living with it, is huge,” she said in a news release. “The parents can’t protect themselves from that previous experience and the fear that goes with it, so midwives should be sensitive to parents’ reproductive vulnerability and ensure they are supported to consider the option of non-invasive prenatal testing if appropriate.”

Parents viewed the non-invasive test as reducing threats to the fetus, “while allowing them to prepare for an affected child or consider termination of pregnancy. By being carried out at nine weeks, the non-invasive prenatal test means that they could delay disclosing the pregnancy, if desired. The study showed that they also viewed it as a way to reduce threats to an unborn child,” Professor Skirton concluded. “The overall findings were very interesting, as the decision whether or not to have the test would have been challenging for the participants, given that the resultant question — whether or not to terminate the pregnancy — would also be hard to face.”