RESUMO
Invasive prenatal testing, amniocentesis, and chorionic villus sampling offer insights into fetal genetic integrity and health, but carry inevitable minor risks of miscarriage and infection, thus complicating the decision-making process for parents. Previous research has revealed several factors that influence the decision to undergo invasive prenatal testing, including demographic, clinical, and psychological aspects, and attitudes towards testing. Informed choice, involving understanding options and aligning them with personal values, is crucial, with healthcare providers playing a key role in offering unbiased information. This systematic review aims to gather and synthesize literature data on the above factors to draw conclusions to aid antenatal care providers in supporting couples to make more informed decisions about their prenatal care. A systematic search was performed in PubMed and PsycInfo databases using the appropriate keywords and an in-depth evaluation of the studies retrieved followed. Finally, 17 articles were eligible for our review investigating the decision-making process of invasive prenatal testing. Factors like maternal age, education, and ethnicity are pivotal during the decision-making process. Clinical characteristics also influence decisions and women with pregnancies categorized as high-risk or those who have undergone fertility treatment display a preference for invasive testing. There seems to be a direct correlation between a woman's willingness to consider pregnancy termination, deeply rooted in psychological and moral stances, and the inclination to undergo invasive testing. In the patient decision-making process, the provision and depth of knowledge are of paramount importance. A comprehensive understanding facilitates more informed decisions. Finally, attitudes towards termination of pregnancy, as another factor influencing the decision-making process, reveal a nuanced landscape where personal beliefs, religious considerations, legal restrictions, and perspectives on disability converge. Within this complex context, religion emerges as an important determinant, shaping individuals' views on the morality of abortion. This review sheds light on the most important factors influencing the couples' consent for invasive prenatal testing. Healthcare professionals must identify which factors are critical in every specific case among several sociodemographic, clinical, emotional, and religious factors. Thus, they will be able to provide balanced and comprehensive information to help couples under this stressful procedure. We advocate for a patient-centered multidisciplinary approach while navigating couples through the intricate landscape of decision-making concerning invasive prenatal testing.
RESUMO
BACKGROUND: Chromosomal microarray analysis (CMA) has gained acceptance in prenatal diagnosis, gradually replacing the traditional cytogenetic analysis following amniocentesis or chorionic villi sampling due to its higher resolution than traditional cytogenetics. OBJCTIVE: The present study investigated the prevalence of major and sub-chromosomal abnormalities in fetuses with isolated ultrasound findings during routine anatomy scan or pregnancies of advanced maternal age after maternal request without medical indication. METHODS: Total number of 126 cases were included in total, consisted of two groups; the first group with isolated sonographic soft markers (84 fetuses) and the second group of advanced maternal age (42 fetuses). The group of isolated sonographic markers was further divided per anatomical system affected. The prevalence of genetic aberrations via QF-PCR and CMA was noted. RESULTS: Clinically significant genetic abnormalities were detected in 12% of the first and 7% of cases in the second group. Interestingly, 40% and 67% of abnormal cases in the first and second group respectively, were identified only after CMA, and they would have missed diagnosis with standard karyotype or QF-PCR alone. Most genetic aberrations were detected in fetuses with findings in the central nervous, craniofacial, cardiovascular, and musculoskeletal system. Sub-microscopic chromosomal aberrations identified only after CMA were gathered in cases with short long bones and in one case with ventriculomegaly. CONCLUSION: Even in pregnancies with a first trimester screening low risk result, the risk of identifying a clinically significant CMA aberration is considerable, when an isolated sonographic marker is identified later on in pregnancy or maternal age is advanced.
