Prenatal diagnosis of a germline variant in TRAF7: Importance of accessibility to prenatal exome sequencing in cases of structural fetal anomalies

Amy Malinowski; Emad A Elsamadicy; Sifa Turan

doi:10.1111/cge.14170

Prenatal diagnosis of a germline variant in TRAF7: Importance of accessibility to prenatal exome sequencing in cases of structural fetal anomalies

Clin Genet. 2022 Aug;102(2):164-165. doi: 10.1111/cge.14170. Epub 2022 Jun 9.

Authors

Amy Malinowski¹, Emad A Elsamadicy¹, Sifa Turan¹

Affiliation

¹ Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland School of Medicine, Balitimore, Maryland, USA.

PMID: 35684978
DOI: 10.1111/cge.14170

Abstract

Diagnosis of a pathogenic germline TRAF7 missense variant (c.1555 C > T, p.L519F) made on a prenatal basis by exome sequencing (ES) performed on chorionic villi. This case highlights the importance of both higher-level prenatal ultrasounds and the accessibility of ES in making genetic diagnoses in making pregnancy management decisions.

Publication types

Letter

MeSH terms

Abnormalities, Multiple* / diagnosis
Abnormalities, Multiple* / genetics
Exome* / genetics
Female
Germ Cells
Humans
Pregnancy
Prenatal Diagnosis*
Tumor Necrosis Factor Receptor-Associated Peptides and Proteins* / genetics
Tumor Necrosis Factor Receptor-Associated Peptides and Proteins* / metabolism
Ultrasonography, Prenatal

Substances

TRAF7 protein, human
Tumor Necrosis Factor Receptor-Associated Peptides and Proteins