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

## TL;DR

A fetus with situs inversus totalis was found to have new CFAP53 gene variants, highlighting the role of prenatal genetic testing in diagnosing laterality defects.

## Contribution

The study reports novel compound heterozygous CFAP53 variants associated with situs inversus totalis in a fetus.

## Key findings

- Compound heterozygous CFAP53 variants were identified in a fetus with situs inversus totalis.
- Prenatal exome sequencing successfully detected the genetic cause of the laterality defect.
- Molecular testing aids in genetic counseling and decision-making for parents during pregnancy.

## Abstract

Heterotaxy defects can include morphological deviations that affect left-right symmetry. In this case report, we observed novel compound heterozygous CFAP53variants 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.