Patients' choices and opinions on chorionic villous sampling and non-invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross-sectional questionnaire study.

OBJECTIVE: The aim of this study was to investigate choices of and reasoning behind chorionic villous sampling and opinions on non-invasive prenatal testing among women and men achieving pregnancy following preimplantation genetic testing (PGT) for hereditary disorders. METHODS: A questionnaire was electronically submitted to patients who had achieved a clinical pregnancy following PGT at the Center for Preimplantation Genetic Testing, Aalborg University Hospital, Denmark, between 2017 and 2020. RESULTS: Chorionic villous sampling was declined by approximately half of the patients. The primary reason for declining was the perceived risk of miscarriage due to the procedure. Nine out of 10 patients responded that they would have opted for a non-invasive prenatal test if it had been offered. Some patients were not aware that the nuchal translucency scan offered to all pregnant women in the early second trimester only rarely provides information on the hereditary disorder for which PGT was performed. CONCLUSION: Improved counseling on the array of prenatal tests and screenings available might be required to assist patients in making better informed decisions regarding prenatal testing. Non-invasive prenatal testing is welcomed by the patients and will likely increase the number of patients opting for confirmatory prenatal testing following PGT for hereditary disorders.

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies.

OBJECTIVE: To evaluate the impact of introduction of noninvasive prenatal testing (NIPT) on the uptake of invasive testing in pregnancies complicated by fetal central nervous system (CNS) anomalies. METHODS: Retrospective review of all singleton pregnancies complicated by fetal CNS anomalies seen at a single tertiary center between 2010 and 2017. Cases who had undergone invasive testing or NIPT prior to the diagnosis of the CNS anomaly were excluded. Cases were segregated according to whether they were seen prior to introduction of NIPT (group A, 2010-2013) or thereafter (group B, 2014-2017). We examined the rate of invasive and noninvasive genetic testing in each group. RESULTS: We retrieved 500 cases: 308 (62%) were isolated CNS anomalies, and 192 (38%) had additional structural anomalies. In the total cohort, 165 women (33%) underwent expectant management with no further prenatal genetic testing, 166 (33%) had invasive testing, 52 (10%) had NIPT, and 117 pregnancies (23%) were terminated without further prenatal investigations. The introduction of NIPT significantly decreased the number of pregnancies having no testing (44% group A vs 22% in group B, p < .0001), particularly in the group presenting with isolated ventriculomegaly, but did not affect the uptake of invasive testing (34% vs 32%, respectively; p = .61). NIPT would have missed 4% of pathogenic copy number variants (CNVs) in the group of cases with isolated brain anomalies and 11% of CNVs in cases with complex anomalies. CONCLUSIONS: Uptake of invasive prenatal testing in fetuses with brain anomalies was not affected by NIPT. However, the incidence of no genetic testing was significantly reduced. NIPT was a suboptimal testing strategy in this population as it missed a significant number of subchromosomal genetic anomalies.

Trait anxiety, information modality, and responses to communications about prenatal genetic testing.

Decisions to undergo invasive prenatal diagnostic procedures can be anxiety provoking. Individuals receive information about these procedures in one of three modalities: written text, audio (verbal description), or video. We examined whether modality influences emotional responses and testing decisions, and whether trait anxiety, a disposition linked with heightened sensitivity to threatening information, moderates these effects. New Zealand adults (N = 176) completed a trait anxiety measure before random allocation to view a text, audio, or video message about amniocentesis and chorionic villus sampling. Participants completed measures of child related worry, anticipated emotional distress, anticipated coping efficacy, perceived likelihood of miscarriage, and testing interest. High-anxious individuals reported greater distress and lower coping efficacy in response to the video message compared to the audio message. They also reported greater miscarriage likelihood in response to the video message compared to the text message. These findings suggest that use of video, assumed to be most informative for educating patients, could induce greater distress about prenatal testing in individuals prone to anxiety.

The evolving role of genetics in reproductive medicine.

As medicine has evolved over the last century, medical genetics has grown from nonexistence to one of the most visible aspects of how we understand and treat disease. This increased role of genetics within medicine will only increase in the coming years, and its role in reproductive medicine will be significant. Genetics has emerged as a primary focus of research with translational applications within reproductive medicine. The aim of this article is to outline the applications of genetics currently available, and how these technologies can provide a positive impact on patient care.

Clinical correlates of pain and anxiety in prenatal diagnostic procedures.

OBJECTIVE: To study patient perception of pain and anxiety before and after amniocentesis (AC) and transabdominal chorionic villus sampling (CVS) and the clinical correlates of pain and anxiety. METHODS: 92 women underwent AC and 78 CVS. Visual analog scale was used to quantify pain and anxiety, immediately before and after the procedure. Factors which could affect pain and anxiety were noted. RESULTS: The pain and anxiety anticipated before the procedures were significantly less than actually perceived. The pre-procedure anxiety did not correlate with post-procedure pain. There was no correlation between anticipated pain or anxiety and age, parity, education, socioeconomic status, and history of procedure in previous pregnancy in both the AC and CVS groups. Post-procedure pain did not correlate with age, parity, education, socioeconomic status, abdominal scar, placental location, number of needle insertion, repeat procedure or abdominal wall thickness in either group. However, on multiple linear regression the overall post-procedure pain was associated with the number of needle insertions. CONCLUSION: Though pre-procedure pain and anxiety levels are high, most patient experience less pain and anxiety after the procedure.

Prenatal diagnosis for thalassaemia in Egypt: what changed parents' attitude?

OBJECTIVES: To present the current status of the prenatal diagnosis services and results from the largest thalassaemia center in Egypt treating 3000 patients. Traditionally, prenatal diagnosis has not been successful in reducing the births of affected children in Egypt, because the majority of women undergoing prenatal diagnosis continued to have affected pregnancies. METHODS: Seventy-one pregnant mothers at risk for ß-thalassaemia underwent prenatal diagnosis by chorionic villus sampling (n=57) or amniocentesis (n=14) between 11 to 14 weeks of gestation. Molecular characterization of fetal DNA by reverse dot blot hybridization and polymerase chain reaction-amplification refractory mutation system techniques was conducted in all cases. RESULTS: Twenty-four women (33.8%) were found to have affected fetuses; 100% of these women opted to terminate the pregnancy. The change in attitude towards termination of pregnancy was related to in-depth counseling of the religious aspects towards prenatal diagnosis and termination of pregnancy. Forty-eight women (66.2%) with normal or carrier fetuses for ß-thal requested human leukocyte antigen typing of the fetal material to determine if the fetus was a human leukocyte antigen match for their existing thalassaemic siblings. CONCLUSION: This study demonstrates that prenatal diagnosis is feasible and acceptable in Egypt, a Muslim country, provided an in-depth discussion, which also addresses the religious considerations of prevention, is held with the couples.

Maternal anxiety and pain during prenatal diagnostic techniques: a prospective study.

OBJECTIVE: To explore anxiety and pain felt by women undergoing chorionic villus sampling (CVS) and amniocentesis (AC). METHOD: We prospectively questioned 254 women (67 undergoing CVS, 187 AC) before the procedure on their anxiety, after the procedure on their pain felt, and the support they received or desired. The medical team collected technical information concerning each procedure. RESULTS: The level of anxiety was significantly higher in women undergoing CVS than AC, in those who had received complete information before the procedure, and when indication for the procedure was fetal structural abnormalities. The level of pain was significantly higher in cases of anxious women, those undergoing a CVS rather than AC, those who had undergone invasive prenatal diagnostic procedures in previous pregnancies, in procedures deemed difficult by the operator, and with needle insertion in the lateral part of the uterus. About 30% of women undergoing CVS and 8% of those undergoing AC would have desired some form of pain prevention, mostly with nonpharmacologic therapy. CONCLUSION: Prenatal diagnosis is frequently associated with anxiety and pain. We identified factors that could exacerbate either one. When questioned, patients would desire a nonpharmacologic means for pain prevention.

Beyond the first trimester screen: can we predict who will choose invasive testing?

PURPOSE: The purpose of this study is to determine what factors, in addition to a positive first trimester aneuploidy screen, correlate with a pregnant patient's decision to undergo invasive prenatal testing. METHODS: We conducted a retrospective cohort study of singleton pregnancies referred to the Johns Hopkins Prenatal Diagnosis and Treatment Center between 2001 and 2009 with an indication of positive first trimester screen. We compared demographic factors and numerical first trimester screen results with invasive testing uptake. Risk difference calculations and linear modeling were used for analysis. RESULTS: A total of 171 eligible patients were identified. Maternal age, race, residual risk, marital status, and year of first trimester screen correlated significantly with invasive testing uptake. Family history was predictive of invasive testing uptake for patients younger than 35 years only. Type of elevated risk (trisomy 21 vs. 18 and 13), assisted reproductive technology status, parity, and increase from age-related risk were not predictive. A general linear model for relative risk with Gaussian error showed significant interaction between the variables of age and family history, so the two traits were analyzed separately (P = 0.009). CONCLUSIONS: Among patients with positive first trimester screen results, several demographic traits are predictive of invasive testing uptake. This information can help providers to identify patients at increased risk of declining invasive testing and can help providers anticipate educational needs. Further investigation should be conducted to elucidate the causes of these differences, which may relate to misinformation about the testing options and differences in values systems.

[Assessment of anxiety, pain and its management in prenatal diagnosis procedures]. / Évaluation de l'anxiété, de la douleur, et de leur prise en charge dans les gestes de diagnostic anténatal.

UNLABELLED: Invasive prenatal diagnosis procedures are numerous and more or less painful and stressful. The purpose of this study was to investigate maternal perception of both anxiety and pain before and after amniocentesis (AC) or transabdominal chorionic villus sampling (CVS), to determine factors associated with pain and anxiety, and to evaluate the pain support. This is a prospective study evaluating the professional practices at CHRU of Lille between March and May 2009 with 132 AC and 22 CVS by aspiration. An original questionnaire has been elaborated in three parts: the first one fulfilled by patients before the procedure, the second one, after the procedure, and the last one by the medical team. Statistical comparisons have used the Chi(2) test, the Fisher exact test, the Student's t test and the U test of Mann Whitney. RESULTS: The anxiety level is high but does not differ between the two groups AC and CVS. CVS are more painful than AC (EVA 5.77 versus 3.07, P<0.0001). No predisposing factor for anxiety has been found. On the other side, procedures are more painful when they are long lasting, considered difficult by the medical team, when needles used are large, the number of needle insertions increases, puncture is performed along a side of the uterus, patients are anxious, and then procedure indication is an hygroma. Patients are satisfied in 98.7% of cases of the support of the medical team. Few drug treatments was prescribed (only 4.5%), however, patients are generally applicant. CONCLUSION: An analgesic, anxiolytic, or a relaxation technique can be proposed to anxious and applicant patients undergoing CVS. Technical conditions of the procedure are more difficult to improve, however, we should use if possible thinner needles, and avoid, wherever technically possible, the punctures on the lateral side of the uterus. Finally, further studies seem necessary for the evaluation of a treatment protocol.

Different communication strategies for disclosing results of diagnostic prenatal testing.

BACKGROUND: Any screening program aiming to reassure pregnant women that their unborn baby is healthy will cause anxiety while waiting for the test results. OBJECTIVES: 1) To determine if revealing amniocentesis or chorionic villous sampling (CVS) results on a fixed date alters maternal anxiety during the waiting period, compared with a policy of revealing the result "when available" (i.e. variable date). 2) To evaluate whether issuing early results from a rapid molecular test alters maternal anxiety during the waiting period. 3) To evaluate whether different methods of communication (telephone, fax, email, face to face) have any impact on the parents' satisfaction and anxiety levels. SEARCH STRATEGY: We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 August 2010). SELECTION CRITERIA: All published and unpublished randomised trials, in which methods of issuing prenatal test results are compared. DATA COLLECTION AND ANALYSIS: Two review authors (Faris Mujezinovic and Zarko Alfirevic) assessed eligibility and trial quality and performed data extraction. MAIN RESULTS: Two studies (involving 286 women) from amniocentesis (but none from CVS) compared the impact of communicating results of rapid testing with waiting for definitive karyotype. Unfortunately, it was not possible to perform pooled analysis because one study reported only median (interquartile range) data, presumably because the data were not normally distributed.One study reported a statistically significant reduction in the average anxiety during the waiting period for women who had had a rapid test compared with those who had not (mean difference (MD) -2.30, 95% confidence intervals (CI) -3.08 to - 1.52). The other study compared median (interquartile range) for the trait- and state-anxiety scores and found no difference between the two groups. AUTHORS' CONCLUSIONS: We found no conclusive evidence that, while waiting for the full karyotype following amniocentesis, issuing results from a rapid analysis reduces maternal anxiety. The limited evidence from the two trials included in this review does not help resolve the dilemma about whether full karyotyping should be abandoned in favour of limited rapid testing for women undergoing Down's syndrome screening. This choice will rest on clinical arguments and cost-effectiveness rather than impact on anxiety.There is also no evidence to support the view that issuing amniocentesis results as soon as they are available is more user friendly than using a pre-defined fixed date. Studies evaluating the effect of different strategies for disclosing results on women anxiety for CVS are needed.

Ethnic and socio-economic differences in uptake of prenatal diagnostic tests for Down's syndrome.

OBJECTIVE: The objective of this study was to assess ethnic and socio-economic differences in the uptake of maternal age-based prenatal diagnostic testing for Down's syndrome by amniocentesis or chorionic villus sampling. STUDY DESIGN: The study population consisted of 12,340 women aged 36 years or over, who lived in a geographically defined region in the Southwest of The Netherlands and who gave birth to a live born infant in the period 2000-2004. Data were obtained from the Department of Clinical Genetics Erasmus MC and Statistics Netherlands. Logistic regression analyses were done to assess ethnic and socio-economic differences in uptake. RESULTS: The overall uptake of prenatal diagnostic tests was 28.5%. Women of Turkish and Caribbean origin participated in prenatal diagnostic tests equally or more often than Dutch women. Women of North-African origin and women from low socio-economic background had a lower uptake than others. Ethnic differences in uptake could not be attributed to differences in socio-economic background. CONCLUSIONS: Uptake of prenatal diagnostic tests for Down's syndrome in The Netherlands was low and varied among ethnic and socio-economic groups of advanced maternal age. The finding that women of Turkish and Caribbean origin participated in prenatal diagnostic tests equally or more often than Dutch women was unexpected. The low uptake among Dutch women may be related to the Dutch pregnancy culture. The finding that women of North-African origin and women from low socio-economic background had a lower uptake may be related to barriers in access to prenatal diagnostic tests.

Knowledge and attitudes towards prenatal diagnostic procedures among pregnant women in Greece.

OBJECTIVE: To assess knowledge and attitudes towards prenatal diagnostic procedures among pregnant women living in Greece who underwent amniocentesis or chorionic villus sampling in relation to underlying demographic, lifestyle and medical history predictors. METHOD: 354 women, upon receiving the results, were interviewed in person. A structured questionnaire was answered based upon sociodemographic, educational, lifestyle and medical history variables, as well as questions pertaining to the women's knowledge, use and opinion of prenatal tests. Summary statistics and multiple logistic regression analyses were performed. RESULTS: No prior information on prenatal diagnostic procedures was reported in 29% or on prenatal screening tests in 50% of the study subjects. Women with no history of inherited diseases were about threefold more likely to have inadequate knowledge (OR = 2.72, p = 0.01) as were women of non-Greek nationality (OR = 3.27, p = 0.02) as well as those who reported being unaware of the health consequences of smoking during pregnancy (OR = 2.50, p = 0.005). By contrast, women of higher education were over twofold more likely to attain a higher level of knowledge of prenatal diagnostic procedures (OR = 0.51, p = 10(-4)) as were those reported reading the popular press (OR = 0.44, p = 10(-4)). CONCLUSION: In spite of the increased availability of prenatal diagnosis, much more is needed to be done in order to improve the efficiency of prenatal counseling, especially in immigrants and women with a low educational background.

Women's accounts of the physical sensation of chorionic villus sampling and amniocentesis: expectations and experience.

OBJECTIVE: to understand women's expectations and experience of discomfort during chorionic villus sampling (CVS) and amniocentesis, and relate them to aspects of clinical practice. DESIGN: thematic analysis of narrative interviews. Interviews were recorded and transcribed verbatim, coded and analysed using computer-assisted qualitative data analysis software. PARTICIPANTS AND SETTING: sample recruited nationally for two wider studies of experiences of antenatal screening (n=47) and experiences of ending a pregnancy for fetal abnormality (n=40). Of these, 31 women had experienced amniocentesis and/or CVS at least once. FINDINGS: most women found the procedures less painful than expected. A smaller group were shocked or surprised at the sensation, and were worried that they had jumped and that the needle might have damaged the baby. A few found it very painful, using vivid imagery of being stabbed or punctured. However, even those who found it worse than expected felt it was worth the pain to get a definite diagnosis. Women identified a range of factors affecting their experience, including levels of anxiety, prior experience or knowledge of the procedures, levels of information provided, trust in the skill of the operator, or reassurance and empathy of the staff involved. CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: the needs of a small minority of women who find CVS or amniocentesis shocking and/or painful may be overlooked. A review of pre-test information and procedures is recommended to ensure that women are better prepared for possible physical sensations during the procedures to address the needs of this minority.

Decision-making about reproductive choices among individuals at-risk for Huntington's disease.

We explored how individuals at-risk for HD who have or have not been tested make reproductive decisions and what factors are involved. We interviewed 21 individuals (8 with and 4 without the mutation, and 9 un-tested) in-depth for 2 hours each. At-risk individuals faced a difficult series of dilemmas of whether to: get pregnant and deliver, have fetal testing, have pre-implantation genetic diagnosis, adopt, or have no children. These individuals weighed competing desires and concerns: their own desires vs. those of spouses vs. broader moral concerns (e.g., to end the disease; and/or follow dictates against abortion) vs. perceptions of the interests of current or future offspring. Quandaries arose of how much and to whom to feel responsible. Some changed their perspectives over time (e.g., first "gambling," then being more cautious). These data have critical implications for genetic counselors and other health care workers and future research, particularly as more genetic tests become available.

Chorionic villus sampling for beta-thalassemia: the first report of experience in Iran.

OBJECTIVES: Beta-thalassemia is one of the most common hereditary disorders in Iran. The prenatal diagnosis of beta-thalassemia is part of a control program in our country and it began 13 years ago. During the past 8 years the number of procedures has increased significantly as also the legal abortions. This is the first report made on the CVS program in Iran. MATERIALS AND METHODS: One thousand six hundred and sixty-one cases of transabdominal Chorionic Villus Sampling (CVS) have been retrospectively evaluated. Among them 1381 cases had inclusion criteria. CVS results, complications and fetal loss rate were evaluated. The distributions of the population at risk were divided between eight regions that have been proposed for beta-thalassemia mapping previously. RESULTS: The mean age of the patients was 26.2 +/- 5.2 years with mean gestational age of 11.4 +/- 1.4 weeks. CVS was successful in all the patients (100%) although 1% required a second procedure. Post CVS fetal loss was 1.45%. Other minor complications were bleeding or spotting (1.81%), amniotic fluid leak (0.5%), small sub-chorionic hematoma (0.58%), severe abdominal pain (0.6%) and severe vasovagal reaction (0.14%). Late complications were seen in 0.21% (oligohydraminos). Approximately 2/3 of the patients were referred from three regions of the country, North (26.8%), South West (22.4%), Central (19.5%) and the remainder (31.3%) were from the other five regions. CONCLUSION: CVS is a safe and effective method for prenatal diagnosis of beta-thalassemia in countries with a high prevalence as in Iran. The overall complication rate is quite low and acceptable. Fortunately the recent acceptance of legal abortion with respect to Muslim rules has increased the effectiveness of the procedure and made great advances in its application in Iran. Correspondingly, social knowledge has also improved but still there is a gap between the population at risk and the required prenatal diagnosis laboratories and sampling centers.

Chorionic villous sampling: differences in patients' perspectives according to indication, ethnic group and religion.

BACKGROUND: The decision to undergo prenatal testing may be influenced by ethnic or religious factors. OBJECTIVES: To evaluate factors that might influence the decision of pregnant women to choose chorionic villous sampling for prenatal testing. METHODS: The study group comprised 239 women referred for prenatal diagnosis who elected to undergo CVS. The data were analyzed according to indication, ethnic group and religion. RESULTS: Among women undergoing CVS because of advanced maternal age and anxiety, we noted a significantly high proportion of unbalanced families, i.e., with three or more children of the same gender and deviated gender ratio. We found a significant excess of males among the Jewish families and a significant excess of females among the non-Jewish families. Jews were over-represented in the monogenic group while Christian Arabs were over-represented in the maternal age/anxiety group. CONCLUSIONS: The proportion of women who chose CVS for prenatal diagnosis varied according to indication, ethnic group and religion. The data in this study indicate that CVS may have been utilized for balancing families with > or = 3 or more children of the same sex. Christian Arabs chose CVS more often than the other groups. Jewish women may have utilized CVS for family balancing of both sexes, while non-Jews may have utilized CVS for balancing families with > or = 3 daughters.

Dysthymic reactions of women undergoing chorionic villus sampling for prenatal diagnosis of hemoglobinopathies or karyotyping.

OBJECTIVES: The aim of the study was to investigate the levels of anxiety and depression, as well as liability to depression, of women undergoing chorionic villus sampling (CVS) due to the risk of giving birth to a child suffering from hemoglobinopathy, or trisomy. METHODS: The study population consisted of 309 women who attended the Fetal Medicine Unit of Alexandra Hospital, University of Athens, Athens, Greece for a first trimester chorionic villus sampling (CVS). One hundred and fifty-nine women (group A) underwent CVS due to increased possibility of carrying an embryo with beta-thalassemia, while 150 women had the procedure because of an increased nuchal translucency measurement, or a positive first trimester biochemical screening (group B). Three hundred and nine women, matched by age and gestational age with those of the study group, who were not subjected to any diagnostic intervention formed the control group. We further investigated differences of dysthymic reactions among three subgroups of women at risk for hemoglobinopathy: (a) women undergoing their first pregnancy; (b) women who had been pregnant more than once but had not any children, and (c) women who had given birth to at least one healthy child, irrespective of previous terminations. RESULTS: The incidence of clinically elevated levels of anxiety and depression was significantly higher in groups A and B compared to controls (p<0.001), while no significant difference was found in mean anxiety and depression, as well as the liability to depression among the three groups. Clinically elevated levels of depression were found in 10.1 and 4.7% of the women of the hemoglobinopathy and karyotyping group, respectively. Especially women who had no children, due to previous pregnancy terminations presented significantly higher incidence of elevated depression compared to women who were pregnant for the first time, or women who had given birth to at least one healthy child in their life. CONCLUSIONS: The findings of this study highlight the necessity of training medical and nursing personnel to understand and respond to the psychological and social needs of women undergoing CVS due to increased risk for hemoglobinopathy, and especially to those who have no children and who have a history of pregnancy termination due to an affected fetus.

Prenatal medicine related to stress and depressive reactions of pregnant women and their partners.

OBJECTIVE: Our study analyses the emotional mood of pregnant women and their partners before various prenatal diagnostic procedures (amniocentesis, ultrasound, chorion villus sampling), and their psychological stress both before and after the diagnostic procedures. METHODS: We studied 472 pregnant women and 308 partners. 88 women (18.6%) had an amniocentesis, 344 (72.8%) had ultrasound and 40 (8.5%) a chorionic villus sampling. The German version of the Center for Epidemiological Studies-Depression Scale of Hautzinger and the short questionnaire of actual situative perceived stress of Müller were used. RESULTS: Before prenatal examination, the mean level of depression and strain was equal in women and men in all groups (ultrasound, amniocentesis, chorionic villus sampling). Before the start of the prenatal examination the pregnant women had a significantly higher depressive feature on the depression-scale and significantly higher stress score than their partners. After prenatal examination the couples' stress differed significantly in the three groups for women and for men. Comparing the stress experienced before and after the prenatal diagnosis revealed both for women and men statistically significant differences. DISCUSSION: The individual experience of prenatal diagnosis is not determined by the invasivity of the procedure.

[Fears of pregnant women if prenatal examination yields or does not yield any findings]. / Angst der Schwangeren vor und nach der pränatalen Untersuchung bei unauffälligen und bei auffälligen Befunden.

OBJECTIVE: Besides a medical point of view, prenatal diagnosis also has psychological effects on the pregnant woman. We studied the state of anxiety before and after prenatal examination with unsuspicious and suspicious prenatal findings. MATERIAL AND METHODS: In a consecutive sample of 332 pregnant women presenting between the 12th and 21st week of gestation for prenatal malformation scan (level three reference centre, Unit for Prenatal Medicine, Department of Obstetrics and Gynaecology, Medical University of Lübeck) we ascertained state and trait anxiety (Spielberger) before prenatal examination and state anxiety after prenatal examination with unsuspicious and suspicious findings. RESULTS: In the sample of N = 332 pregnant women prenatal examination showed a suspicious finding in 37 fetuses (11.1 %) and an unsuspicious finding in 295 fetuses (88.9 %). Before prenatal examination there is no difference (Mann-Whitney-Test, P = 0.286) between the group with negative results and the pregnant women with a positive result for the trait anxiety scale; however, there is a significant difference (Mann-Whitney-Test, P = 0.014*) for the scale of state anxiety. After prenatal examination the evaluation of the state anxiety questionnaire shows a significant (Mann-Whitney-Test, P = 0.000*) difference between pregnant women with an unsuspicious finding and pregnant women with a suspicious finding. State-anxiety is significantly reduced after examination if the prenatal scan is unsuspicious (Wilcoxon-Test, P = 0.000*), but there is no significant difference between pre-and post-examination anxiety if there is a positive finding (Wilcoxon-Test, P = 0.399). Evaluating aspects of anxiety as regards content, it can be demonstrated that before prenatal examination the pregnant women are just as much afraid of a malformation being detected as of it being missed. CONCLUSIONS: Suspecting or knowing about a malformation of the unborn means a complex process of coping and an intense psychosocial strain for a pregnant woman. Besides the fear of a detected malformation the pregnant women state equal fear of a malformation being missed. In contrast to this the immediate feedback of a negative finding during ultrasound examination leads to a significant reduction of anxiety and to an emotional relief for the pregnant woman.