Prenatal diagnosis of cystic fibrosis: an experience of 181 cases

Abstract

PD for CF should be performed in reference laboratories equipped for gene scanning and linkage analysis, with a multidisciplinary staff able to offer counselling to couples during all phases of PD.

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

“…Furthermore, in six cases STR preliminary analysis revealed that CV DNA was contaminated by maternal DNA; they included one case of haemophilia (in which the foetus was female), two cases of thalassaemia (in which the paternal mutation was absent) and three cases for which PD was not concluded. In all other cases, including eight twin dichorionic pregnancies, PD was concluded [see also [12][13][14][15]. Finally, in 15 cases, STR analysis revealed non-paternity.…”

“…In addition, the laboratory must be equipped with adequate quality control programmes [30]. For most diseases we used two different analytical procedures (that have invariably given concordant results), including, where available, linkage analysis [12][13][14][15]31]. Finally, the laboratory must be equipped to perform a preliminary analysis of maternal cell contamination and paternity testing (since in most PDs only parental mutations are analysed).…”

“…This is lower than the 4% currently reported [32], which may depend on the preliminary purification of CV that we perform immediately after sampling. Furthermore, in 15 cases, STR analysis revealed non-paternity [see 12,14]. Physicians in our region are involved in multidisciplinary counselling, as required by regional law.…”

“…The procedures for molecular analysis of cystic fibrosis (CF) [12], haemophilia A (HA) and B (HB) [13], thalassaemia and haemoglobinopathies [14], Duchenne/Becker dystrophies (DMD), myotonic dystrophy type I (DM1) and spinal muscular atrophy [15] are detailed in other articles of this issue of CCLM. Protocols for the molecular or biochemical PD of other inherited diseases are available on request.…”

Prenatal diagnosis of haemophilia: our experience of 44 cases

“…Consequently, a positive PD of haemophilia is usually not followed by pregnancy interruption, particularly in countries that offer an adequate quality of patient care [16,17]. In fact, in our series 30% of positive PDs for haemophilia were not followed by pregnancy interruption, differently, in our experience, from cystic fibrosis [18], Duchenne muscular dystrophy, myotonic dystrophy type 1 [19], thalassaemia [20] and other severe diseases [9] for which pregnancy interruption was planned in more than 95% of positive PD. Of course, the multidisciplinary team of counsellors must be aware of all the novel therapies available for haemophilic patients and must give the same support to all couples irrespective of the family's decision [21].…”