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Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Prenatal diagnosis - 1 Apr 2026

Sanchez Barbero Ana Isabel, Rodríguez de Alba Freiría Marta, Trujillo-Tiebas María Jose, Ávila Fernández Almudena, Blanco-Kelly Fiona, López Grondona Fermina, Swafiri Saoud, Mirea Andreea-Manuela, Salgado Barbado Elena, Sánchez Jimeno Carolina, Álvaro Navidad Miguel, Plaza Javier, Ayuso Carmen, Lorda-Sánchez Isabel

Abstract excerpt

OBJECTIVE: We perform a deep phenotyping of fetuses diagnosed with genetic syndromes in the first trimester of gestation using HPO standardized terminology. METHODS: A retrospective cohort of 293 fetuses that underwent prenatal genetic testing in the first trimester from 2020 to April 2024, in a University Reference Hospital. Descriptive and comparative analyses were performed. Statistical significance was set at...

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Genetic Diseases, Inborn
Genetic Testing
Phenotype
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy Trimester, First

Prenatal Diagnosis

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PMID: 41821149
DOI: 10.1002/pd.70108

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HP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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