Novel Compound Heterozygous CFAP53 Variants in a Fetus With Situs Inversus Totalis: A Case Report

Cureus 2026 Open access

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Authors: Stylianos Lagios, Andreas E Spathi, Vassilis Papanikolaou, Theoni Leoutsakou, Theochari Eleni, Maria Kavvadia, Theano Stauroulaki, Anastasios Xefteris, Angeliki Malamidou, Angeliki Rouvali, Afroditi P Pegou, Athena P. Souka
+4 more Marianna Chatziioannoy, Aspasia Destouni, Panagiotis G. Antsaklis, Ανδρέας Παμπάνος
DOI: 10.7759/cureus.103723
Cited by: 0
References: 18

Abstract

Heterotaxy defects can include morphological deviations that affect left-right symmetry. In this case report, we observed novel compound heterozygous CFAP53 variants that affect laterality. Whole exome sequencing (WES) was performed during pregnancy. Prenatal exome sequencing is particularly valuable for fetuses with laterality defects, given the increasingly high diagnostic success observed in this category of morphological abnormalities. Molecular testing plays an important role in genetic counselling, allowing parents to make decisions about pregnancy, calculating risk, and often predicting possible medical problems due to the nature of the disease.

Fields of Study & Subjects

Genomics and Rare Diseases Prenatal Screening and Diagnostics Congenital Heart Disease Studies

Publication details

Journal / source
Cureus
Volume
18
Issue
2
Pages
e103723–e103723
Publication date
16 February 2026
Language
EN