The accuracy of prenatal cytogenetic diagnostic tests for fetal chromosomal anomalies has been confirmed over the last 40 years. Second trimester amniocentesis is the most commonly performed prenatal invasive diagnostic procedure. In recent years, determination of personalized risk for fetal chromosomal anomalies emerged as an important component of prenatal genetic counseling . Women in whom fetal risk for chromosomal aberrations is elevated are offered further testing. However, the decision regarding invasive prenatal diagnosis needs to be made within tight timeframes since the window of gestational age during which such tests can be performed safely and provide accurate results is quite narrow . Previous studies revealed that many women refer to prenatal screening and testing appointments with little understanding about the nature of the exams [5, 6]. Parents should understand the nature of the screening choices they have been offered; however, literature data imply that they may do not receive adequate, timely information from health professionals and thus are unable to make an informed decision . The information and advice provided by an obstetrician prior to referral to a genetics center is likely an important determinant of maternal decision to undergo amniocentesis . In our opinion, our study should be considered unique since it was conducted in Poland, whereas most similar previous studies were carried out in the United States or in Western Europe. To the best of our knowledge, the number of studies including subjects from Eastern Europe who refused invasive prenatal testing despite medical indications, is limited. We analyzed medical records of 177 patients qualified for amniocentesis, selected from a group of 2251 pregnant women tested for chromosomal aberrations and fetal defects. Nearly 30% of women from the study group refused invasive testing although their risk score for trisomy 21 exceeded 1:300; this fraction should be considered high. Other 125 patients underwent diagnostic amniocentesis. In the study conducted by Kuppermann et al., amniocentesis was carried out in 43 out of 710 women . In our opinion, it is vitally important for pregnant women to understand the purpose and potential consequences of prenatal testing, especially that many patients seem to perceive non-invasive prenatal tests merely as a routine component of a larger laboratory workup [8, 9].
In our study, the decision to refuse amniocentesis was made most often by women with primary education; furthermore, primary education turned out to be the only independent predictor of declining invasive prenatal diagnosis on multivariate logistic regression analysis. However, this does not seem to be a universal rule since according to McCoyd, even relatively well-educated and economically stable persons may present with a surprising lack of knowledge and understanding on the purpose of the exam and possibility of fetal diagnosis . During perinatal period, women are particularly vulnerable to anxiety and depressive disorders, and potential problems with their fetuses seem to contribute significantly to this conditions . Patients in whom screening tests showed increased risk for fetal anomaly or revealed an actual defect, are typically devastated and confused . The vast majority of pregnant women do not consider potential problems with their fetuses. Even upon referral to a medical appointment aimed at fetal health assessment, only a small proportion of patients discuss potential risk for a fetal anomaly with their partner or anyone else . This implies that pregnant women display a relatively high level of denial or are just not prepared for possible diagnosis of fetal anomaly. This may explain why upon such diagnosis women are truly shocked and have a sense of betrayal, rather than being “only” surprised or saddened . Pregnancy planning is just one indicator of preparedness for a gestation; the percentage of planned pregnancies in the United States is estimated at 50% . Preparation for pregnancy can be considered a valuable resource for decision-making, especially in a crisis situation, such as detection of a fetal anomaly. Available evidence suggests that under such circumstances, women with unplanned pregnancies may be more prone to decision-making problems [13, 14]. The principal reasons behind undergoing prenatal tests are reassurance and the desire of knowledge about the fetal health. The decision to decline prenatal testing may be driven by personal views on pregnancy termination and the fear for iatrogenic pregnancy loss . Although amniocentesis is associated with an increased risk for miscarriage, it should be stressed that the exact risk has still not been determined and its available estimates vary from 1:100 to 1:1600 . In this study, women with a history of at least two miscarriages in previous pregnancies refused invasive prenatal diagnosis significantly more often than other subjects. Furthermore, the history of at least two miscarriages turned out to be an independent significant predictor of declining amniocentesis. The obstetric history of a woman is likely an important determinant of her decision to approve/refuse an invasive procedure . Surprisingly, however, Sharda et al. showed that nearly 50% of women with unfavorable obstetric history and ultrasonographic evidence of soft aneuploidy markers agreed to take risk of amniocentesis rather than having an abnormal child. On the other hand, some women with two or more live children (including one with a genetic disorder) and primigravidas were reluctant to undergo an invasive procedure . Still little is known on the factors that influence maternal decision to accept or decline diagnostic amniocentesis, and most of available data in this matter are not evidence-based or reflect solely personal experiences . Potential determinants of the decision to undergo/refuse invasive prenatal testing include the method of conception, age, parity, consanguinity, family history of congenital anomalies, history of miscarriage, twin gestation, socioeconomic background and religion. In our series, declining amniocentesis did not correlate significantly with maternal age (< 35 years vs. ≥ 35 years), gravidity (< 2 vs. ≥3), marital status (married vs.others) and gestational age at the time of non-invasivescreening (11 vs. 12 vs. 13). Many women who conceived via assisted reproduction technology (ART) are older than 35 years, either due to previous unsuccessful attempts to get pregnant or as a consequence of conscious decision to delay childbearing . Women who undergo in vitro fertilization (IVF) may theoretically be reluctant to diagnostic amniocentesis owing attributed risk of miscarriage. However, some of them may seek additional assurance that their pregnancies are karyotypically normal, owing past history of infertility. How these conflicting factors influencematernal decision to approve/decline prenatal testing is largely unknown . Nevertheless, in our study, all pregnant women with a history of ART procedures and high personalized risk scores for trisomy 21 (N = 7) opted for an invasive testing. Also the patients whose fetuses presented with nuchal translucency values > 2.5 mm and those with personalized risk scores for trisomy 21 greater than 1:100 refused amniocentesis significantly less often than the remaining participants of this study. Patients who did not give their consent for invasive tests can be offered non-invasive prenatal testing (NIPT) [19, 20]. Rapid advances in NIPT based on cell-free fetal DNA in maternal plasma have now made it possible to identify pregnancies affected by trisomy 21 from 10 weeks of gestation; the blood test provides high accuracy (> 99%) and low false-positive rate (0.1%) in identification of affected pregnancies . NIPT has two key clinical advantages over invasive testing: it does not pose a risk of miscarriage and can be conducted early in pregnancy. However, it should be remembered that NIPT is not currently considered fully diagnostic, and therefore, its positive result needs to be verified by means of an invasive testing . Widespread use of fetal cell-free DNA testing would with no doubt reduce the number of unnecessary invasive tests (amniocentesis and chorionic villi sampling) and eliminate associated risk for miscarriage . Moreover, the use of NIPT may exert a salient effect on pregnant woman’s general attitude to prenatal genetic testing. Many patients who would currently decline prenatal genetic testing would likely opt for performing NIPT .