EP21.28: Prenatal diagnosis of Primrose syndrome Article Swipe
Wael Abdallah
,
Thibaud Quibel
,
Sophie Brisset
,
Rodolphe Dard
,
Emmanuel Spaggiari
,
C. Alby‐Averseng
,
Tania Attié‐Bitach
,
Y. Ville
,
J. Bault
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/uog.27044
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/uog.27044
Results:We collected 5 cases of aneuploidies apart from Trisomy 21: 2 cases of Trisomy 18, one case of Trisomy 9 as well as one case of Klinefelter syndrome and one case of Turner syndrome.The diagnosis was confirmed in the 2nd trimester in most cases.During the same period, 11569 babies were born in our department.The rate of aneuploidies with the exclusion of Trisomy 21 is 0.00043.A termination of pregnancy which took place without maternal incidents was the family chosen management in the cases of Trisomy 18 and Trisomy 9.The two cases involving the sexual chromosomes were discussed in a multidisciplinary board and the decision was not to propose termination of pregnancy and to inform the parents of the potential fertility issues for their child with adequate counselling.Conclusions: The generalisation of the combined screening of aneuploidies associated with trimester 2nd morphological ultrasound as well as a better knowledge of the syndromic malformation associated with these chromosomal anomalies makes it possible to detect aneuploidies, other than Trisomy 21, earlier.But the morphotype and the prognosis of these aneuploidies remain variable depending on the affected chromosome.
Related Topics
Concepts
Medicine
Missense mutation
Prenatal diagnosis
Dysgenesis
Oligohydramnios
Camptodactyly
Fetus
Pediatrics
Pathology
Anatomy
Pregnancy
Genetics
Mutation
Biology
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/uog.27044
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.27044
- OA Status
- bronze
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4387260163
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4387260163Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/uog.27044Digital Object Identifier
- Title
-
EP21.28: Prenatal diagnosis of Primrose syndromeWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
-
2023-10-01Full publication date if available
- Authors
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Wael Abdallah, Thibaud Quibel, Sophie Brisset, Rodolphe Dard, Emmanuel Spaggiari, C. Alby‐Averseng, Tania Attié‐Bitach, Y. Ville, J. BaultList of authors in order
- Landing page
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https://doi.org/10.1002/uog.27044Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.27044Direct link to full text PDF
- Open access
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.27044Direct OA link when available
- Concepts
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Medicine, Missense mutation, Prenatal diagnosis, Dysgenesis, Oligohydramnios, Camptodactyly, Fetus, Pediatrics, Pathology, Anatomy, Pregnancy, Genetics, Mutation, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
- Related works (count)
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10Other works algorithmically related by OpenAlex
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