ArticleOrphanet journal of rare diseases2025
Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed.
- Prenatal sonographic clues suggestive of hypohidrotic ectodermal dysplasia in a fetus: a case description.Quantitative imaging in medicine and surgery · 2026Article
- Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure.Orphanet journal of rare diseases · 2026Article
- How much sweating is enough? Predicting thermoregulatory capacity in patients with ectodermal dysplasia based on a minimal pilocarpine-induced sweat volume.Frontiers in pediatrics · 2026Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
backgroundX-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.
methodsInitial 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.
resultsMost 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.
conclusionUltrasound-based screening and prenatal treatment of the fetus are viewed positively by the vast majority of female XLHED carriers.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.