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Antenatal testing for cystic fibrosis in Cuba, 1988-2011
Teresa Collazo1, Ixchel López, Yulia Clark
1National Medical Genetics Center, Havana, Cuba. tcollazo@infomed.sld.cu.
Insights
Antenatal molecular testing for cystic fibrosis (CF) in Cuba successfully identified genetic status in over half of at-risk pregnancies. This diagnostic approach offers significant social value for families impacted by CF.
Area of Science:
- Medical Genetics
- Public Health
- Molecular Diagnostics
Background:
- Cystic fibrosis (CF) is a severe, incurable autosomal recessive disease with high mortality and significant impact on patients and families.
- In Cuba, CF affects 1 in 9862 live births, complicated by CFTR gene molecular heterogeneity hindering diagnosis.
- Existing molecular diagnostics identify mutations in only 55.5% of CF chromosomes, necessitating advanced testing strategies.
Purpose of the Study:
- To characterize the Cuban public health system's experience with antenatal molecular testing for cystic fibrosis.
- To evaluate the application of direct and indirect molecular methods for prenatal CF detection from 1988 to 2011.
- To assess the outcomes of antenatal diagnostic testing for couples at risk of having children with cystic fibrosis.
Main Methods:
- A retrospective descriptive study analyzed nationwide antenatal diagnostic testing results for 108 fetuses from 1988-2011.
- Polymerase chain reaction (PCR) was used to detect specific CFTR gene mutations (p.F508del, p.G542X, etc.) and genetic markers (XV2C, KM19).
- Testing employed direct mutation analysis, indirect marker analysis, or a combination of both approaches.
Main Results:
- Direct mutation analysis was performed in 86.1% of cases, indirect marker analysis in 4.6%, and combined methods in 9.3%.
- A total of 72 diagnoses were concluded, identifying 20 healthy fetuses, 16 affected fetuses, and 27 carriers.
- Nine cases resulted in diagnoses of healthy status or carrier status with an unknown mutation.
Conclusions:
- Direct or indirect molecular studies were successfully applied in over half of requested antenatal CF tests in Cuba.
- The study highlights the feasibility and social importance of prenatal molecular diagnosis for cystic fibrosis in a population with genetic heterogeneity.
- Antenatal testing provides crucial information for at-risk couples, mitigating the profound burden of cystic fibrosis on families.
Abstract:
INTRODUCTION Cystic fibrosis is a multisystem autosomal recessive disease with wide variability in clinical severity. It is incurable and characterized by elevated and premature mortality, as well as poor quality of life. Its frequency, lethality and devastating impact on both the physical and psychological wellbeing of patients and their families, make it a serious health problem. Its frequency in Cuba is 1 in 9862 live births, where marked molecular heterogeneity of the CFTR gene makes molecular diagnosis difficult. Six mutations have been identified that together enable molecular characterization of only 55.5% of cystic fibrosis chromosomes. This paper presents national results of antenatal diagnostic testing, using direct and indirect methods, for detection of cystic fibrosis. OBJECTIVE Characterize the Cuban public health system's experience with antenatal molecular testing for cystic fibrosis from 1988 through 2011. METHODS A retrospective descriptive study was conducted with results of antenatal diagnostic testing of amniotic fluid, performed nationwide from 1988 through 2011, for 108 fetuses of couples with some risk of having children affected by cystic fibrosis, who requested testing. Polymerase chain reaction detected mutations p.F508del, p.G542X, p.R1162X, p.R334W, p.R553X and c.3120+1G>A, and markers XV2C and KM19. Data were analyzed using absolute frequencies and percentages, and presented in tables. RESULTS For 93 cases (86.1%), testing for cystic fibrosis was done using direct analysis of mutations p.F508del, p.G542X, p.R1162X, p.R334W, p.R553X and c.3120+1G>A; five cases (4.6%) were tested indirectly using markers XV2C/Taq I and KM19/Pst I; and 10 (9.3%) were tested using a combination of the two methods. A total of 72 diagnoses (66.7% of studies done) were concluded, of which there were 20 healthy fetuses, 16 affected, 27 carrier, and 9 who were either healthy or carriers of an unknown mutation. CONCLUSIONS Direct or indirect molecular study was successfully used in over half of antenatal tests requested by couples throughout Cuba at risk of having children affected by cystic fibrosis, which is of great social value because of CF's burden on affected persons and their families.
