Prenatal Diagnosis of Cystic Fibrosis in a Highly Heterogeneous Population

Casals, Teresa; Giménez, Joaquím; Ramos, María Dolores Burguete; Nunes, Virginia; Estivill, Xavier

doi:10.1002/(sici)1097-0223(199603)16:3<215::aid-pd838>3.0.co;2-7

Cited by 13 publications

(6 citation statements)

References 32 publications

(20 reference statements)

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“…Mutation F508del shows a North-to-South Europe decreasing frequency gradient (30-90%) while the percentage of non-F508del chromosomes associated with CF increases (6,17). The Mediterranean area has the highest CFTR heterogeneity, making genetic diagnosis by mutation analysis especially difficult (9,(19)(20)(21)(22). For the Spanish CF patients, 73 different mutations have been identified accounting for 87% of CF alleles with only 10 of them having a frequency higher than 1% and for the French population 105 mutations account for 86% of CF chromosomes (22,23).…”

Section: Molecular Heterogeneity Of Cf In Greecementioning

confidence: 99%

“…The Mediterranean area has the highest CFTR heterogeneity, making genetic diagnosis by mutation analysis especially difficult (9,(19)(20)(21)(22). For the Spanish CF patients, 73 different mutations have been identified accounting for 87% of CF alleles with only 10 of them having a frequency higher than 1% and for the French population 105 mutations account for 86% of CF chromosomes (22,23). Studies of North-eastern Italian CF patients identified 62 mutations accounting for 73.8% of detectable CF alleles while for the Celtic population from Brittany, France, 19 mutations account for 98% of CF chromosomes (24,25).…”

Section: Molecular Heterogeneity Of Cf In Greecementioning

confidence: 99%

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Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high‐risk individuals

et al. 2003

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Cystic fibrosis (CF) mutation analysis on 437 CF patients, characterized 80 different mutations (20 so far specific to our population) accounting for 91% of CF genes and generating 103 different genotypes. Eight mutations were common [F508del (53.4%), 621+1G>T (5.7%), G542X (3.9%), N1303K (2.6%), 2789+5G>A (1.7%), 2183AA>G (1.4%), E822X (1.4%), R1158X (1%)], 12 showed frequencies between 0.5% and 1%, while the remaining (60) were very rare (1 to 3 alleles). Denaturing gradient gel electrophoresis (DGGE) screening of 12 exons (3, 4, 7, 10, 11, 13, 14b, 16, 17b 20 and 21) detected 85.5% of CF alleles. Haplotypes for eight diallelic and three microsatellite markers have been characterized for the common, a few rare and novel Greek mutations. Results of 165 prenatal diagnoses (including 49 due to bowel hyperechogenicity), testing a total of 41 different parental genotypes, are reported. One hundred and sixteen prenatal tests resulted in 22 affected, 59 heterozygous, 34 normal fetuses and one incomplete diagnosis. Of the 49 echogenic bowel fetuses, 3 were heterozygotes. Carrier screening was initiated, with emphasis on individuals and couples in high-risk groups - with a family history of CF, one partner with CF, and couples with male infertility seeking in vitro fertilization (IVF). Mutation analysis on 672 individuals (120 couples, 91 unaffected CF siblings, 283 CF family relatives and 58 general population subjects), identified a total of 176 heterozygotes and 7 couples where both partners were CF heterozygotes. Prenatal diagnosis was performed in 4 cases and 3 were counseled on the availability of a prenatal test.

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Section: Molecular Heterogeneity Of Cf In Greecementioning

confidence: 99%

Section: Molecular Heterogeneity Of Cf In Greecementioning

confidence: 99%

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high‐risk individuals

et al. 2003

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“…However, perhaps most significantly, a prenatal diagnosis permits the possibility of prenatal therapy. While such therapy is still in development, significant strides have been made in the development of non‐invasive screening techniques that have the potential to dramatically increase prenatal screening rates and thereby open the door to prenatal therapy for many (Casals et al, ; Nasis et al, ; Sekizawa et al, ; Bustamante‐Aragones et al, ).…”

Section: Non‐invasive Screening Techniques and The Future Of Prenatalmentioning

confidence: 99%

Cystic fibrosis: A look into the future of prenatal screening and therapy

Nishida

Smith

Rana

et al. 2015

Birth Defects Research Pt C

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Despite recent guidelines suggesting prenatal screening for carriers of cystic fibrosis (CF) mutations, many physicians do not offer patients this service or even counseling. Some argue that the risks of miscarriage associated with prenatal diagnostic techniques outweigh the benefit of added insight, but with the advent of newer, noninvasive techniques, risks of miscarriage may be significantly lowered. Prenatal diagnosis provides parents the time to prepare for raising a child with CF, and soon, could provide treatment options in utero that could improve quality of life. Here, we describe two of the most promising gene therapy approaches: lentivirus and adenoassociated virus (AAV)-mediated gene transduction. Thus, prenatal detection and treatment is in a most crucial stage for care of patients with CF.

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“…For Spanish patients with CF, 73 different mutations have been identified, accounting for 87% of CF alleles with only 10 of them having a frequency higher than 1%; and for the French population, 105 mutations account for 86% of CF chromosomes (Chevalier-Porst et al, 1994;Casals et al, 1996). Studies of North-eastern Italian patients with CF identified 62 mutations, accounting for 73.8% of detectable CF alleles; whereas for the Celtic population from Brittany in France, 19 mutations account for 98% of CF alleles (Ferec et al, 1992;Gasparini et al, 1992).…”

Section: Cftr Gene Analysis In Iranian Azeri Turkish Patientsmentioning

confidence: 99%