New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma

Abstract

The knowledge about the inheritance of the paternal mutation in a fetus may avoid the conventional prenatal diagnosis in some cases. The SNaPshot technique has been shown to be a sensitive and accurate method for the detection of fetal mutations in maternal plasma. Its ease handling, rapid and low cost makes it appropriate for a future routine clinical use in non-invasive prenatal diagnosis of cystic fibrosis.

Non-invasive prenatal diagnosis of single-gene disorders from maternal blood

“…However, in other pathologies in which there is a prevalent causative mutation, i.e., Delta508 mutation in cystic fibrosis, NIPD is more restricted. (Bustamante-Aragones et al, 2008b, 2008c, 2008dChan et al, 2010;Chiu et al, 2002aChiu et al, , 2002bFucharoen et al, 2003;Gonzalez-Gonzalez et al, 2002;Herzenberg et al, 1979;Li et al, 2009;Lo and Chiu, 2010;Lun et al, 2008b;Nasis et al, 2004;Papasavva et al, 2006Papasavva et al, , 2008Tungwiwat et al, 2006Tungwiwat et al, , 2007Yi et al, 2010aYi et al, , 2010b The list of publications reporting NIPD of Mendelian disorders in maternal plasma appears in Table 3. In addition to these published studies, other personal data not published yet include the NIPD of: Leber congenital amaurosis (1 case), McKusick type metaphyseal chondrodysplasia (1 case), Hurler syndrome (1 case), Huntington's disease (9 cases), epidermolysis bullosa (1 case), achondroplasia (5 cases), oculodentodigital dysplasia (1 case), Osler-Rendu-Weber disease (1 case) and Ellis-van Creveld syndrome (1 case).…”

Prenatal diagnosis of inherited diseases: 20 years’ experience of an Italian Regional Reference Centre

“…PD for inherited diseases is currently performed by analysing DNA from foetal cells obtained by chorionic villi (CV) sampling or on samples obtained by amniocentesis. Non-invasive approaches based on the analysis of foetal DNA in maternal blood [3] are poorly standardised [4], and are used for the PD of sex [5] and of some autosomal recessive diseases when maternal and paternal mutations are different [6]. Amniocentesis is usually performed in the second trimester of pregnancy, between 15 and 20 weeks of gestation; amniocentesis before 14 weeks is no longer performed due to the high occurrence of foetal loss [7].…”

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

“…Each peak in the stutter lacks one core repeat unit relative to the main peak. When the paternal amplicon size is directly adjacent to the maternal amplicon size, it may be very difficult to distinguish the signals [18,21,22]. The feasibility of using this NIPD protocol for each couple depends on the availability of family members (of offspring or relative gDNA) for determining the haplotypes linked to mutant or normal alleles in the family.…”