Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester

The concomitant omphalocele, ectopia cordis and craniorachischisis may be related to trisomy 18. Genetic analysis of the postmortem tissue and the analysis of the parental origin of the extra chromosome 18 using QF-PCR, provide valuable information for genetic counseling.

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Publication Details

Journal
Taiwanese Journal of Obstetrics and Gynecology
Published
2025-03-01
DOI
https://doi.org/10.1016/j.tjog.2023.11.015
Citations
1
Primary Topic
Congenital Anomalies and Fetal Surgery
Type
article
Field-Weighted Citation Impact
2.01
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Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester

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Congenital Anomalies and Fetal Surgery
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article

Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester

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article en
1 citations

Abstract

The concomitant omphalocele, ectopia cordis and craniorachischisis may be related to trisomy 18. Genetic analysis of the postmortem tissue and the analysis of the parental origin of the extra chromosome 18 using QF-PCR, provide valuable information for genetic counseling.

Taiwanese Journal of Obstetrics and GynecologyVol. 64(2)
China Medical University (TW), Mackay Memorial Hospital (TW), China Medical University Hospital (TW)
Openalex Percentile: Top 18%
Congenital Anomalies and Fetal Surgery
2.01
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