AI Article Synopsis
- The study aimed to estimate the cystic fibrosis (CF) birth prevalence and the types of CFTR gene variants in Yucatan, Mexico, based on five years of newborn screening data.
- In total, 96,071 newborns were screened; from that, 30 underwent sweat tests, leading to nine possible CF cases, with seven confirmed and two inconclusive.
- The findings revealed the CF birth prevalence in southeastern Mexico is about 1 in 13,724, and a variety of CFTR gene variants were identified, indicating a diverse genetic landscape.
Article Abstract
Objective: To use the results of the first five years of a cystic fibrosis newborn screening program to estimate the cystic fibrosis birth prevalence and spectrum of cystic fibrosis transmembrane conductance regulator ( CFTR) gene variants in Yucatan, Mexico.
Methods: Screening was performed from 2010 to 2015, using two-tier immunoreactive trypsinogen testing, followed by a sweat test. When sweat test values were >30 mmol/L, the CFTR gene was analyzed.
Results: Of 96,071 newborns screened, a second sample was requested in 119 cases. A sweat test was performed in 30 newborns, and 9 possible cases were detected (seven confirmed cystic fibrosis and two inconclusive). The most frequently detected CFTR pathogenic variant (5/14 cystic fibrosis alleles, 35.7%) was p.(Phe508del); novel p.(Ala559Pro) and p.(Thr1299Hisfs*29) pathogenic variants were found.
Conclusions: Cystic fibrosis birth prevalence in southeastern Mexico is 1:13,724 newborns. Immunoreactive trypsinogen blood concentration is influenced by gestational age and by the time of sampling. The spectrum of CFTR gene variants in Yucatan is heterogeneous.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/0969141317722808 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!