Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus: A novel phenotype

Author:

Kilby Mark D.123ORCID,Castleman James1ORCID,Allen Stephanie4,Doyle Samantha5,Williams Denise K.6

Affiliation:

1. Fetal Medicine Centre Birmingham Women's and Children's Foundation Trust Birmingham UK

2. College of Medical and Dental Sciences University of Birmingham Birmingham UK

3. Medical Research Group Illumina Cambridge UK

4. West Midlands Regional Genetics Laboratory Central and South Genomic Laboratory Hub Birmingham UK

5. Perinatal Genomics Service The National Maternity Hospital Dublin Ireland

6. West Midlands Regional Clinical Genetics Service Birmingham Women's and Children's Foundation Trust Birmingham UK

Abstract

AbstractWe report a case of a female fetus born to an unrelated couple with a complex fetal phenotype of a pleural effusion, a cardiac malformation, and syndactyly of the toes. Prenatal exome sequencing identified a variant of uncertain significance in the PORCN gene that was upgraded to likely pathogenic following postnatal clinical examination. The phenotype described in cases with variants in the PORCN gene is often associated with findings that cannot be prospectively diagnosed by ultrasonography. This is the first report of a prenatal phenotype involving a fetal effusion associated with variants in the PORCN gene, with skeletal findings identified later in gestation on ultrasonography. The diagnosis was confirmed on neonatal examination.

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference8 articles.

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