Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling

Abstract

Despite the increasing availability and effectiveness of non-invasive screening for foetal aneuploidies, most women of advanced maternal age (AMA) still opt for invasive tests. A retrospective cross-sectional survey was performed on women of AMA undergoing prenatal invasive procedures, in order to explore their motivations and the outcome of preliminary genetic counselling according to the approach (individual or group) adopted. Of 687 eligible women, 221 (32.2%) participated: 117 had received individual counselling, while 104 had attended group sessions. The two groups did not differ by socio-demographic features. The commonest reported reason to undergo invasive tests was AMA itself (67.4%), while only 10.4% of women mentioned the opportunity of making informed choices. The majority perceived as clear and helpful the information received at counselling, and only 12.7% had doubts left that, however, often concerned non-pertinent issues. The impact of counselling on risk perception and decisions was limited: a minority stated their perceived risk of foetal abnormalities had either increased (6.8%) or reduced (3.6%), and only one eventually declined invasive test. The 52.6% of women expressed a preference toward individual counselling, which also had a stronger impact on perceived risk reduction (P = 0.003). Nevertheless, group counselling had a more favourable impact on both clarity of understanding and helpfulness (P = 0.0497 and P = 0.035, respectively). The idea that AMA represents an absolute indication for invasive tests appears deeply rooted; promotion of non-invasive techniques may require extensive educational efforts targeted to both the general population and health professionals. INTRODUCTIONWomen of advanced maternal age (AMA) face an increased risk of having a child affected by a chromosomal disorder such as trisomy 21, 18 or 13, with the risk rising from 1 in 525 for a 20-year-old to 1 in 18 for a 45-year-old woman. 1 For this reason, in many countries women of AMA have been or still are offered invasive prenatal procedures (IPP), namely amniocentesis (AC) and chorionic villus sampling (CVS), to perform foetal karyotyping. 2 However, owing to the risk of foetal loss associated with IPP, noninvasive screening tests have been developed and proven accurate in identifying women at increased risk of foetal aneuploidies, regardless of maternal age. The combined test including sonographic measurement of foetal nuchal translucency and the biochemical assessment of free beta-hCG and PAPP-A performed at 11-13 weeks allows detection of 90-95% of affected foetuses for a false-positive rate of 5%. [3][4][5] Despite the excellent performance of the combined test in antenatal exclusion of trisomy 21, only few countries in Europe have adopted a policy of universal screening of the population and cancelled the AMA as a primary indication to foetal karyotyping. In Italy, according to the most recent guidelines, the combined test is suggested as a primary screening tool in pregnancy, irrespective of maternal age, bu...

Prenatal diagnosis of fetal chromosomal abnormalities among 2318 pregnant women with indications in southern China: a retrospective study

“…(2) patients, especially with AMA, who have a positive biochemical double-marker screening test are more likely to undergo invasive tests (23); only 11 of 920 cases had positive biochemical triplemarker screening tests in our study.…”

High risk—What's next? A survey study on decisional conflict, regret, and satisfaction among high‐risk pregnant women making choices about further prenatal testing for fetal aneuploidy

“…A better counselling model could be to hand out the written information and a link for a decision aid in continuation of the cFTS and then book an appointment for personal counselling the day after. Group counselling followed by the option of a brief individual counselling has also been shown as an acceptable model for genetic counselling …”

Group genetic counseling: An alternate service delivery model in a high risk prenatal screening population

“…Interestingly, surveys of AMA women before their first genetic counseling appointment and followed‐up at 24 weeks of gestation found that decisions regarding amniocentesis were mostly driven by a priori attitudes compared with any other factors . A retrospective survey of AMA women found a limited impact of genetic counseling on decisions to undergo invasive prenatal procedures . Whether either genetic counseling approach influenced patient decisions is unknown and is an important area of future research.…”