Gene therapy for cystic fibrosis: Will it affect the uptake of prenatal carrier screening?

We report a study which examined whether the decision of 135 couples to accept prenatal cystic fibrosis (CF) carrier screening would be influenced by the advent of gene therapy. A majority (91 couples; 67 per cent) felt that gene therapy for CF would not influence their decision to be screened. Twenty-two couples (16 per cent) stated that they would decline to be screened and an equal number felt ambivalent. Even if the life expectancy of a CF sufferer were increased by gene therapy to normal, 78 per cent of couples would still wish to avail themselves of prenatal carrier screening. A majority of women who decline screening do so because they are opposed to termination of pregnancy. The availability of gene therapy could increase the proportion of couples who accept screening.     

Carrier screening for cystic fibrosis

A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. Only in the latter form of screening has sufficient data been collected to allow conclusions to be reached on the optimum mode of delivery. It seems very probable that when CF carrier screening passes into routine service, it will be the antenatal couple model that is used.     

Cystic lung lesions – prenatal diagnosis and management

With increasing use of fetal ultrasound comes an increase in the detection of clinically silent ‘abnormalities’ which pose diagnostic and management dilemmas for perinatologists and paediatricians. Congenital thoracic malformations (CTMs) (excluding congenital diaphragmatic hernia) are one such example, where a few cases are symptomatic in early life and management options are clear, but the majority are clinically asymptomatic, giving rise to difficulties in defining postnatal management of the well child with a sonographic or radiological lesion. Here, we will outline the prenatal presentation and natural history of CTMs that are not congenital diaphragmatic herniae and briefly discuss the approach to postnatal management, which is covered in more detail in the review by Laje and Liechty in this issue. Copyright © 2008 John Wiley & Sons, Ltd.