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Utilization of prenatal diagnosis for cystic fibrosis over the past seven years
I Jedlicka-Köhler1, M Götz, I Eichler
1University Children's Hospital, Vienna, Austria.
Insights
Prenatal diagnosis (PD) for cystic fibrosis (CF) availability did not significantly alter reproductive choices for parents with an affected child. The decision to use PD was complex, often hindered by the anticipated difficulty of pregnancy termination decisions.
Area of Science:
- Medical Genetics
- Reproductive Medicine
- Genetic Counseling
Background:
- First-trimester prenatal diagnosis (PD) for cystic fibrosis (CF) using DNA analysis has been accessible since 1986 for parents with a history of the condition.
- Understanding parental reproductive decision-making is crucial for genetic counseling and support services.
Purpose of the Study:
- To assess the impact of prenatal diagnosis availability on the reproductive behavior of parents who already have a child with cystic fibrosis.
- To explore parental attitudes towards further childbearing and the utilization of prenatal diagnosis.
Main Methods:
- A prospective study involving 37 couples with one child affected by CF.
- Simultaneous interviews with parents to ascertain attitudes towards childbearing and PD utilization.
- A 7-year follow-up to compare intended reproductive behavior with actual outcomes.
Main Results:
- 43% of parents intended to have more children; 51% would likely use PD.
- The primary motivation for using PD was the desire for a healthy child (47%).
- Fear of difficult decisions regarding affected fetuses deterred 49% of parents from considering PD.
Conclusions:
- The availability of prenatal diagnosis for cystic fibrosis does not substantially alter reproductive behavior in parents with an affected child.
- Multifactorial reasons influence decisions, with the anticipated difficulty of managing an affected pregnancy being a significant factor.
Objective:
First trimester prenatal diagnosis (PD) by DNA analysis for cystic fibrosis (CF) has been available for parents of affected children since May 1986.
Methods:
In a prospective study 37 couples with a single child affected by CF were investigated. Fathers and mothers were interviewed simultaneously, and their attitudes towards further childbearing and potential utilization of PD ascertained. Parental answers were treated as one. A 7-year follow-up allowed comparison between intended and actual behavior.
Results:
At the time of the interview, 16 parents (43%) were determined to have further children. Nineteen parents (51%) said they would certainly or probably utilize PD in case of pregnancy. Their predominant reason for favoring PD was the strong desire to have a healthy child (47%). Among the 18 rejectors (49%) the fear of an unsolvable conflict in case of an affected fetus prevailed (39%). Twenty-four pregnancies actually occurred in 18 families. Utilization of PD was arranged in five (21%) and finally performed in four (17%) cases.
Conclusion:
Availability of PD does not substantially change the reproductive behavior of parents of children with CF. Reasons for this were multifactorial, with anticipated difficulty in deciding to continue or terminate pregnancy being predominant.