Interventions aiming to improve informed decision on prenatal screening and testing: A scoping review of the literature

Abstract

Prenatal screening and testing can be a part of perinatal care that allows couples to have information about their babies' health status before birth to manage the pregnancy and make decisions beforehand (Ravitsky, 2017). While prenatal screening assesses a pregnant woman's chance of having a fetus affected by a genetic condition, prenatal testing (or diagnostic testing) determines whether the fetus has a specific genetic condition. The diagnosis of a fetus with a genetic condition allows the couple to make an informed decision on the management of their pregnancy. If a genetic condition is identified, pregnancy termination may be planned by choice (Krstić & Obićan, 2020;Ravitsky, 2017), or the couple may have gained time to optimize neonatal outcomes by determining the appropriate facility for delivery and essential healthcare professionals for the care of the baby (American College of Obstetricians & Gynecologists, 2016). According to the American College of Obstetricians and Gynecologists, several prenatal screening tests are available in the first and/or second trimester during the pregnancy. The firsttrimester screening test consists of three markers, including maternal serum beta-human chorionic gonadotropin (beta-hCG), maternal serum pregnancy-associated plasma protein-A (PAPP-A), and nuchal translucency (NT) measurement. The combined test consists of these markers, and together with maternal age, it provides a patient-specific risk. The second-trimester quadruple test includes alpha-fetoprotein (AFP), beta-hCG, estriol, and inhibin A (Krstić & Obićan, 2020). The quadruple test is the most common test used for women who had their first prenatal care in the second trimester or decide to undergo screening in the second trimester (Krstić & Obićan, 2020). There are also integrated tests that use markers measured in both first and second trimesters to estimate the chance for Down syndrome. These test options have different detection and false-positive rates. Integrated tests have the advantage of

Experiences of non‐invasive prenatal screening: A survey study

“…It will also be important to take current societal perceptions and narratives into account as those have a substantial impact on women’s decision processes 10 . A recent scoping review has also demonstrated the importance of providing information to women, and couples, using different types of modalities to improve understanding and knowledge, such as counselling, booklets, and interactive eHealth tools including decision‐making aids 28 …”

A team‐based approach to cardiogenomic education

“…As evidence builds for the utility and efficacy of using genetic information for diagnosis, risk assessment, and management, so does the need to have a genomics‐competent healthcare workforce. Genetics education is delivered in a variety of ways, from local efforts in individual practices and hospitals to national efforts including the development of genetics and genomics competencies for different healthcare professions and levels of training (Cornel, 2019; Sirisena & Dissanayake, 2019; Talwar et al., 2017; Yesilcinar et al., 2021). Given the range in program type and scope, it is difficult to ascertain the professional background of the individuals creating and leading such education programs, but the limited available data suggest that genetic education leaders have subject matter expertise in genetics/genomics but do not necessarily have professional training in education.…”