Prenatal diagnosis of cystic fibrosis: 10-years experience

Genetics and genomic medicine in Tunisia

“…Similar to previous reports, these data showed that F508del is the most common mutation (51.28%), followed by E1104X (12.82%), N1303K and G542X (8.97%). All the other mutations were detected in less than 7% of the tested individuals (Hadj Fredj et al., ). No premarital carrier screening is offered for cystic fibrosis, and prenatal diagnosis is mainly restricted to the capital and the big coastal cities.…”

Cystic fibrosis and jejunoileal atresia: A clinical case

“…6 CF also has a considerable impact in the public health systems; consequently, prevention from disease through carrier identification, genetic counseling, and prenatal diagnosis remains the most realistic approach to reduce its burden. 7 …”

“…6 CF also has a considerable impact in the public health systems; consequently, prevention from disease through carrier identification, genetic counseling, and prenatal diagnosis remains the most realistic approach to reduce its burden. 7 Prenatal diagnosis is recommended to the couples known to be CFTR mutation carriers and in cases of ultrasound fetal anomalies such as meconium peritonitis, hyperechogenic and/or bowel dilatation, intraabdominal calcifications and meconium ileus (MI). 7 Intestinal affection is usually the first manifestation, sometimes in the prenatal period.…”

“…According to the Cystic Fibrosis Foundation 2018 Registry Report, the average life expectancy is 47,4 years for those born in 2018 6 . CF also has a considerable impact in the public health systems; consequently, prevention from disease through carrier identification, genetic counseling, and prenatal diagnosis remains the most realistic approach to reduce its burden 7 …”

“…7 Prenatal diagnosis is recommended to the couples known to be CFTR mutation carriers and in cases of ultrasound fetal anomalies such as meconium peritonitis, hyperechogenic and/or bowel dilatation, intraabdominal calcifications and meconium ileus (MI). 7 Intestinal affection is usually the first manifestation, sometimes in the prenatal period.…”