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Journal Articles American Journal of Medical Genetics Part C: Seminars in Medical Genetics Year : 2022

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

1 CHU Trousseau [APHP]
2 SU FM - Sorbonne Université - Faculté de Médecine
3 LIMICS - Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé
4 ACM2G - American College of Medical Genetics and Genomics [Bethesda, MD, USA]
5 Nationwide Children's Hospital
6 University Hospital Basel [Basel]
7 Unibas - University of Basel
8 UC San Francisco - University of California [San Francisco]
9 CIBER de Enfermedades Raras (CIBERER)
10 Hospital Universitario La Paz
11 UNSW - University of New South Wales [Canberra Campus]
12 Liverpool Women's NHS Foundation Trust
13 NIMS - Nizam's Institute of Medical Sciences
14 CHU Nantes - Centre hospitalier universitaire de Nantes
15 Service de génétique médicale - Unité de génétique clinique [Nantes]
16 QMUL - Queen Mary University of London
17 JAX - The Jackson Laboratory [Bar Harbor]
18 CarMeN - Cardiovasculaire, métabolisme, diabétologie et nutrition
19 SOFFOET - Société Française de Foetopathologie [Paris]
20 HFME - Hôpital Femme Mère Enfant [CHU - HCL]
21 St George's, University of London
22 University of Tübingen
23 Boston Children's Hospital
24 CUIMC - Columbia University Irving Medical Center
25 UNN - University Hospital of North Norway [Tromsø]
26 CCUH - Children's Clinical University Hospital [Riga, Latvia]
27 University of Medicine and Pharmacy of Craiova
28 UKS - Saarland University Hospital
29 University of Colorado Anschutz [Aurora]
30 AUSL di Reggio Emilia Istituto di Ricerca a Carattere Clinico Scientifico [Reggio Emilia, Italie]
31 IRCCS Ospedale Pediatrico Bambino Gesù [Roma]
32 Vall d'Hebron University Hospital [Barcelona]
33 Hospital de Santa Maria [Lisboa]
34 CHULN - Centro Hospitalar Universitário Lisboa Norte [Lisbon, Portugal]
35 BCM - Baylor College of Medicine
A. Dufke
  • Function : Author


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.
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Dates and versions

inserm-03831074 , version 1 (26-10-2022)



F. Dhombres, P. Morgan, B. P. Chaudhari, I. Filges, T. N. Sparks, et al.. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022, 190 (2), pp.231-242. ⟨10.1002/ajmg.c.31989⟩. ⟨inserm-03831074⟩
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