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

doi:10.1002/ajmg.c.31989

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Article

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

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2022

Dhombres Ferdinand, Morgan Patricia, Chaudhari Bimal P, Filges Isabel, Sparks Teresa N, Lapunzina Pablo, Roscioli Tony, Agarwal Umber, Aggarwal Shagun, Beneteau Claire, Cacheiro Pilar, Carmody Leigh C, Collardeau-Frachon Sophie, Dempsey Esther A, Dufke Andreas, Duyzend Michael Henri, El Ghosh Mirna, Giordano Jessica L, Glad Ragnhild, Grinfelde Ieva, Iliescu Dominic G, Ladewig Markus S, Munoz-Torres Monica C, Pollazzon Marzia, Radio Francesca Clementina, Rodo Carlota, Silva Raquel Gouveia, Smedley Damian, Sundaramurthi Jagadish Chandrabose, Toro Sabrina, Valenzuela Irene, Vasilevsky Nicole A, Wapner Ronald J, Zemet Roni, Haendel Melissa A, Robinson Peter N

Abstract excerpt

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...

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PMID: 35872606
DOI: 10.1002/ajmg.c.31989
PMCID: PMC9588534

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