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Article

The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.

Prenatal diagnosis - 1 Jun 2020

Mellis Rhiannon, Chandler Natalie, Jenkins Lucy, Chitty Lyn S

Abstract excerpt

OBJECTIVES: To evaluate the diagnostic yield of noninvasive prenatal diagnosis (NIPD) for FGFR3-related skeletal dysplasias and assess the accuracy of referrals based on sonographic findings to inform guidelines for referral. METHODS: We retrospectively reviewed laboratory and referral records from 2012 to 2018 to ascertain all NIPD tests performed using our next generation sequencing panel to detect FGFR3...

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Bone Diseases, Developmental
Fetus
High-Throughput Nucleotide Sequencing
Infant, Newborn
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy Outcome

Receptor, Fibroblast Growth Factor, Type 3

Ultrasonography, Prenatal

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Identifiers

PMID: 32227640
DOI: 10.1002/pd.5687

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

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