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Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

Authors :
Dhombres F
Morgan P
Chaudhari BP
Filges I
Sparks TN
Lapunzina P
Roscioli T
Agarwal U
Aggarwal S
Beneteau C
Cacheiro P
Carmody LC
Collardeau-Frachon S
Dempsey EA
Dufke A
Duyzend MH
El Ghosh M
Giordano JL
Glad R
Grinfelde I
Iliescu DG
Ladewig MS
Munoz-Torres MC
Pollazzon M
Radio FC
Rodo C
Silva RG
Smedley D
Sundaramurthi JC
Toro S
Valenzuela I
Vasilevsky NA
Wapner RJ
Zemet R
Haendel MA
Robinson PN
Source :
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2022 Jun; Vol. 190 (2), pp. 231-242. Date of Electronic Publication: 2022 Jul 24.
Publication Year :
2022

Abstract

Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic disease can help to strategize treatment options and clinical preventive measures during the perinatal period, to plan in utero therapies, and to inform parental decision-making. Fetal phenotypes of genetic diseases are often unique and at present are not well understood; more comprehensive knowledge about prenatal phenotypes and computational resources have an enormous potential to improve diagnostics and translational research. The Human Phenotype Ontology (HPO) has been widely used to support diagnostics and translational research in human genetics. To better support prenatal usage, the HPO consortium conducted a series of workshops with a group of domain experts in a variety of medical specialties, diagnostic techniques, as well as diseases and phenotypes related to prenatal medicine, including perinatal pathology, musculoskeletal anomalies, neurology, medical genetics, hydrops fetalis, craniofacial malformations, cardiology, neonatal-perinatal medicine, fetal medicine, placental pathology, prenatal imaging, and bioinformatics. We expanded the representation of prenatal phenotypes in HPO by adding 95 new phenotype terms under the Abnormality of prenatal development or birth (HP:0001197) grouping term, and revised definitions, synonyms, and disease annotations for most of the 152 terms that existed before the beginning of this effort. The expansion of prenatal phenotypes in HPO will support phenotype-driven prenatal exome and genome sequencing for precision genetic diagnostics of rare diseases to support prenatal care.<br /> (© 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.)

Details

Language :
English
ISSN :
1552-4876
Volume :
190
Issue :
2
Database :
MEDLINE
Journal :
American journal of medical genetics. Part C, Seminars in medical genetics
Publication Type :
Academic Journal
Accession number :
35872606
Full Text :
https://doi.org/10.1002/ajmg.c.31989