A new policy for prenatal screening and diagnosis of Down syndrome for pregnant women with advanced maternal age in a public hospital

Abstract

The number of direct invasive tests was markedly reduced. With effective DS screening policy, it is possible to do away with direct invasive testing for the majority of women with AMA.

A systematic review of factors influencing uptake of invasive fetal genetic testing by pregnant women of advanced maternal age

“…Four papers included data collected in the United States (US) (Marini et al, 2002;Baker et al, 2004;Kuppermann et al, 2006;Nakata et al, 2010), one from South Africa (Urban et al, 2011), two from Canada (Humphreys et al, 2003;Kaiser et al, 2004), one from China (Lo et al, 2010), one from Portugal (Nazaré et al, 2011), one from Italy (Vergani et al, 2002) and one from Israel (Muhsen et al, 2010). In seven papers, the participants were solely women (Baker et al, 2004;Kaiser et al, 2004;Kuppermann et al, 2006;Lo et al, 2010;Nakata et al, 2010;Urban et al, 2011;Vergani et al, 2002), whereas Nazaré et al (2011) andHumphreys et al (2003) included women and their partners (in the remaining two papers counselling was not mentioned). The number of participants ranged from 123 (Kaiser et al, 2004) to 163,756 (Nakata et al, 2010).…”

“…Six papers reported prospective studies (Vergani et al, 2002;Humphreys et al, 2003;Kaiser et al, 2004;Kuppermann et al, 2006;Muhsen et al, 2010;Nazaré et al, 2011), four reported retrospective studies (Marini et al, 2002;Baker et al, 2004;Nakata et al, 2010;Urban et al, 2011) and Lo et al (2010) utilised both prospective and retrospective approaches. Four studies were survey-based (Humphreys et al, 2003;Kuppermann et al, 2006;Muhsen et al, 2010;Nazaré et al, 2011).…”

“…A summary of screening or testing services is presented in Table 2, indicating that in some situations invasive testing was available to all pregnant women (Marini et al, 2002;Baker et al, 2004;Kaiser et al, 2004;Lo et al, 2010), whereas in others the offer of testing was based on AMA (Vergani et al, 2002;Humphreys et al, 2003;Kuppermann et al, 2006;Muhsen et al, 2010;Nakata et al, 2010;Nazaré et al, 2011). Lo et al (2010) described the change in policy in China, where prior to 2006 women were offered either direct invasive tests or a variety of screening tests for Down syndrome. After April 2006, to reduce procedure-related fetal loss, invasive procedures were only offered to women after a positive (high risk) screening result or when ultrasound showed major fetal anomaly.…”

“…Four studies were survey-based (Humphreys et al, 2003;Kuppermann et al, 2006;Muhsen et al, 2010;Nazaré et al, 2011). In other case series studies, authors retrieved data from electronic databases (Lo et al, 2010;Nakata et al, 2010;Urban et al, 2011) and hospital records (Marini et al, 2002;Baker et al, 2004;Lo et al, 2010;Muhsen et al, 2010;Urban et al, 2011).…”

Offering prenatal diagnostic tests: European guidelines for clinical practice

“…3 In some clinical settings, amniocentesis or CVS for aneuploidy has been offered to all pregnant women of advanced maternal age. [4][5][6] In other circumstances or countries, discussion of invasive testing may be prompted by a high-risk screening result. 7 However, the opportunity to use non-invasive techniques for some conditions is now feasible 8 and these are increasingly available to women in some countries.…”