Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.
Holm Schneider, Michael Schneider, Massimiliano Lia, Dorothy K Grange, Smail Hadj-Rabia, Angus Clarke, Mary Fete, Agnes Jaulent, Marlene Guiraud, Anthony Odibo, Florian Faschingbauer
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Abstract
Background: X-linked hypohidrotic ectodermal dysplasia (XLHED) is a severe genetic disorder that may be treatable with short-term protein replacement therapy during fetal development. This is currently being investigated in a multicenter clinical trial. Affected fetuses can be identified by the number of tooth germs during a routine ultrasound scan in mid-gestation. To understand the attitudes of female XLHED carriers towards prenatal treatment and ultrasonographic screening of the fetus, we analyzed an earlier and a very recent survey among those women and the actual decisions of potential trial participants.
Methods: Initial analyses were based on a self-administered survey of 167 female XLHED carriers conducted in 2011. A similar questionnaire was completed 12 years later by 72 female XLHED carriers aged 18-45 years. Subsequently, both the path to diagnosis and further decision-making of the first 33 pregnant women screened for participation in the EDELIFE trial were investigated.
Results: Most women diagnosed with XLHED considered this disease as an obstacle to having children: About one third had decided not to have children, another third would monitor their pregnancy using invasive genetic testing. In both surveys, a small number of women stated that they would consider termination of pregnancy depending on the test result. When it came to participating in the clinical trial, 80% were likely to take part (17% moderately likely, 63% very likely). Among the first pregnant women screened for this trial, 48% underwent invasive tests, while 52% relied on non-invasive tooth germ imaging for fetal XLHED diagnosis. One pregnancy with an affected fetus was terminated, another one resulted in a miscarriage, one woman declined to participate in the trial, and 12 women (80%) decided to have the affected fetuses treated.
Conclusion: Ultrasound-based screening and prenatal treatment of the fetus are viewed positively by the vast majority of female XLHED carriers.
期刊介绍：
Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.
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