# Carrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia

## TL;DR

This study identifies the carrier frequency of several autosomal recessive and X-linked diseases among individuals in Colombia seeking fertility treatments.

## Contribution

The study provides the first carrier frequency data for recessive diseases in a Colombian population attending a fertility institute.

## Key findings

- 70.5% of individuals carried at least one pathogenic mutation for a recessive disease.
- Alpha-1 antitrypsin deficiency had the highest carrier frequency (10-11.3%) in the population.
- Common diseases like cystic fibrosis and spinal muscular atrophy had notable carrier frequencies.

## Abstract

To determine the carrier frequency of X-linked and autosomal recessive
diseases in patients attending a human fertility institute in Colombia.

This retrospective observational study included patients and gamete donors
attending a Human Fertility Institute in Colombia between January 2017 and
June 2023. Sociodemographic data and results of Next Generation Sequencing
laboratory panels for screening of recessive disease-causing mutations were
collected and analyzed.

Data from 746 samples were analyzed; 599 (80.3%) were Colombian origin
individuals and 147 (19.7%) were foreigners. At least one mutation was
detected in 526 (70.5%) individuals. Of note, 893 pathogenic genetic
variants were identified.

The genetic variants most frequently observed in all the individuals studied
were associated with the following diseases (carrier frequency): alpha
thalassemia (10.5%), alpha-1 antitrypsin deficiency (10%), congenital
adrenal hyperplasia due to 21-hydroxylase deficiency (9.4%), cystic fibrosis
(7.3%), spinal muscular atrophy type 1 (5.6%) and Stargardt disease type 1
(5.0%). The most frequent genetic variant observed in the subgroup of
Colombian origin individuals was associated with alpha-1 antitrypsin
deficiency (11.3%).

Information on the frequency of recessive diseases in Colombia is limited.
This pioneering carrier genetic screening identified a high percentage of
carriers for at least one recessive autosomal or X-linked in the population
evaluated. Screening for recessive mutations could lead to an evolution in
family planning programs and a decrease in the number of patients affected
by recessive disorders. Furthermore, it could become a routine test not only
in cases of assisted reproduction but also in cases of natural
gestation.