Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses
Abstract
Fragile X syndrome (FXS) is the most common inherited form of mental retardation. It is caused by a CGG repeat expansion, which results in hypermethylation and silencing of the FMR1 gene. The results from 213 FXS prenatal diagnoses performed in the study centre were reviewed. Family history of FXS or undiagnosed mental retardation (MR) were the reasons for referral and 64% of mothers were not aware of their status so prenatal and mother tests were performed at the same time. Among those women referred for family history of unknown MR, 17.6% were found to be FXS carriers. The attitudes and perceptions of the syndrome of 52 FXS carriers were also evaluated. Most of them had been diagnosed as carriers when the child was already born and the most common feeling was sadness, followed by impotence and guilt. The majority of them had received genetic counselling and they considered it useful. Regarding reproductive options, prenatal diagnosis was chosen by 40.5% of women. Prenatal diagnosis for FXS is a good reproductive option and it should be carried out whenever family history of MR is present. A high percentage of FXS carriers are detected following this approach.
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In a European study of 213 fragile X syndrome prenatal diagnoses, 17.6% of those with a family history of unknown intellectual disability were found to be fragile X carriers.
“Of note, in a recent European study of 213 FXS prenatal diagnoses, 17.6% of those with a family history of unknown ID were found to be FXS carriers (44).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [44]
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Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321 · see citing works
- Authors
- Xunclà, M., Badenas, C., Domínguez, M., Rodríguez-Revenga, L., Madrigal, I., Jiménez, L., Soler, A., Borrell, A., Sánchez, A., & Milà, M.
- Affiliations
- Hospital Clínic de Barcelona (ES)
- Universitat Pompeu Fabra (ES)
- Corresponding author
- Milà, M.
- Venue
- Reproductive BioMedicine Online
- Publisher
- Elsevier BV
- Published
- 2010-10
- Volume
- 21
- Issue
- 4
- Pages
- 560-565
- ISSN
- 1472-6483 (ISSN-L)
- OpenAlex
- W2051970842
- Cited by
- 9
- References
- 15
- Citations by year
- 2026: 1 · 2025: 1 · 2018: 2 · 2016: 1 · 2013: 1 · 2012: 3
- FWCI
- 0.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Reproductive BioMedicine Online (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Instituto de Salud Carlos III
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
- Keywords
- fragile X syndrome, prenatal diagnosis, FMR1 gene, CGG repeat expansion, intellectual disability, carrier detection, parental attitudes, reproductive decision-making, genetic counseling
- MeSH terms
- Attitude to Health, Female, Fragile X Syndrome, Genetic Counseling, Genetic Testing, Humans, Intellectual Disability, Parents, Pregnancy, Prenatal Diagnosis, Surveys and Questionnaires
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