Wildschut, H.I.J.

First-trimester crown-rump length and embryonic volume of aneuploid fetuses measured in virtual reality (Article)

2013-05-01T00:00:00Z

Objectives To examine whether embryonic volume (EV), as measured using three-dimensional (3D) ultrasound and a virtual reality approach, is a better measure of growth restriction than is crown-rump length (CRL) in aneuploid fetuses. Methods We retrospectively measured CRL and EV in prospectively collected 3D ultrasound volumes of 55 aneuploid fetuses using the Barco I-Space VR system. The gestational age ranged from 11 + 2 to 14 + 4 weeks. We compared our measured data with previously published reference curves for euploid fetuses. Delta-values were calculated by subtracting the expected mean for euploid fetuses of the same gestational age from observed values. The one-sample t-test was used to test the significance of differences observed. Results The CRL measurements of fetuses with trisomy 21 (n = 26), trisomy 13 (n = 5) and monosomy X (n = 5) were comparable with those of euploid fetuses, but in fetuses with trisomy 18 (n = 19) the CRL was 14.5% smaller (P < 0.001). The EV in fetuses with trisomies 21, 18 and 13 and monosomy X was smaller than in euploid fetuses (-27.8%, P < 0.001; -39.4%, P < 0.001; -40.9%, P = 0.004; and -27.3%, P = 0.055, respectively). Conclusions When relying on CRL measurements alone, first-trimester growth restriction is especially manifest in trisomy 18. Using EV, growth restriction is also evident in trisomies 21 and 13 and monosomy X. EV seems to be a more effective measurement for the assessment of first-trimester growth restriction in aneuploid fetuses. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. Copyright

An urban perinatal health programme of strategies to improve perinatal health (Article)

2012-11-01T00:00:00Z

Promotion of a healthy pregnancy is a top priority of the health care policy in many European countries. Perinatal mortality is an important indicator of the success of this policy. Recently, it was shown that the Netherlands has relatively high perinatal death rates when compared to other European countries. This is in particular true for large cities where perinatal mortality rates are 20-50% higher than elsewhere. Consequently in the Netherlands, there is heated debate on how to tackle these problems. Without the introduction of measures throughout the entire perinatal health care chain, pregnancy outcomes are difficult to improve. With the support of health care professionals, the City of Rotterdam and the Erasmus University Medical Centre have taken the initiative to develop an urban perinatal health programme called 'Ready for a Baby'. The main objective of this municipal 10-year programme is to improve perinatal health and to reduce perinatal mortality in all districts to at least the current national average of 10 per 1000. Key elements are the understanding of the mechanisms of the large health differences between women living in deprived and nondeprived urban areas. Risk guided care, orientation towards shared-care and improvement of collaborations between health care professionals shapes the interventions that are being developed. Major attention is given to the development of methods to improve risk-selection before and during pregnancy and methods to reach low-educated and immigrant groups.

Informing on prenatal screening for Down syndrome prior to conception. An empirical and ethical perspective (Article)

2012-03-01T00:00:00Z

In most Western countries, information on prenatal screening for Down syndrome is provided in the first-trimester of pregnancy. The purpose of this study was to examine whether this information should additionally be provided before pregnancy to improve the informed decision-making process. In an empirical study, we obtained data from pregnant women with respect to their preferences regarding information on prenatal screening preconceptionally. Questionnaire data (n=510) showed that 55.7% of responding women considered participating in prenatal screening for Down syndrome before pregnancy. 28.0% of women possessed information on prenatal screening preconceptionally. 84.6% preferred not to receive information preconceptionally in retrospect. In an ethical analysis, we elaborated on these preferences by weighing pros and cons. We considered two arguments against the provision of information on prenatal screening preconceptionally: women's preference to receive information in a step-by-step manner, and the risk of providing a directive message. We identified three reasons supporting its provision preconceptionally: the likelihood of making an informed decision could, firstly, be increased by "unchaining" the initial information from possible subsequent decisions, and, secondly, by providing women sufficient time to deliberate. Thirdly, the probability of equal access to prenatal screening may increase. To conclude with, we propose to incorporate an information offer on prenatal screening for Down syndrome in preconception care consultations. By offering information, instead of providing information, prospective parents are enabled to either accept or decline the information, which respects both their right to know and their right not-to-know.

Informed decision-making in prenatal screening for Down's syndrome: What knowledge is relevant? (Article)

2011-08-01T00:00:00Z

Objective: To determine the content of decision-relevant knowledge needed for informed decision-making about (non-) participation in prenatal screening for Down's syndrome (DS), in order to develop a knowledge questionnaire for routine application in large-scale programme evaluations. Methods: A generic list of content domains for knowledge about screening was extracted from the literature. Items reflecting specific knowledge domains were constructed. An expert group of professionals and pregnant women expressed whether domains and items represented decision-relevant information. Results: All presented domains were scored as (very) important. Options when receiving an 'increased probability for DS' test result, the meaning of this result, the aim of the screening, and voluntary nature of the test were scored as most important. The condition being screened for, prevalence, and the screening procedure were scored as relatively less important, with a high amount of expert consensus. Conclusion: A knowledge measure for prenatal screening for DS was developed, based on domains and items acquired by expert consensus. Practice implications: This measure of decision-relevant knowledge can be used in routine, large-scale evaluations of the procedure for offering information about prenatal screening for DS.

Informed decision-making about the fetal anomaly scan: What knowledge is relevant? (Article)

2011-06-01T00:00:00Z

Objectives This study had two objectives. The first was to determine the contents of relevant knowledge needed for informed decision-making (IDM) in second-trimester ultrasound screening for fetal anomalies, with the goal of developing a knowledge measure for use in large-scale program evaluations. The second was to compare the contents of decision-relevant knowledge for second-trimester ultrasound screening with those for first-trimester screening for Down syndrome using the combined test. Methods A generic list of content domains for knowledge about screening was extracted from the literature. Items reflecting specific knowledge domains for second-trimester ultrasound screening were constructed. An expert group of professionals and pregnant women expressed whether domains and items represented decision-relevant knowledge. Results Regarding second-trimester ultrasound screening, the experts scored all knowledge domains as (very) important. The meaning of an abnormal test result, the disorders being screened for, and the purpose of the screening were rated as very important for IDM, along with the voluntary nature of the test. All knowledge domains were included in the final measure. Importance ratings of knowledge domains for first-trimester Down syndrome screening and for second-trimester ultrasound screening were highly correlated (Pearson's r = 0.71). The domain 'consequences of a positive test result' was considered more important in first-trimester Down syndrome screening than in second-trimester ultrasound screening. Conclusions We have developed a knowledge measure for second-trimester ultrasound screening for fetal anomalies for use in routine, large-scale program evaluations.

Management of aplastic anemia in a woman during pregnancy: A case report (Article)

2011-02-17T00:00:00Z

Introduction. Aplastic anemia is a rare disease caused by destruction of pluripotent stem cells in bone marrow. During pregnancy it could be life-threatening for both mother and child. The only causal therapy for aplastic anemia is bone marrow transplantation, which is contraindicated during pregnancy because of potential embryo toxicity. Treatment options are erythrocytes and platelet transfusions and immunosuppressive therapy. There is, however, no agreement about the optimal supportive care and treatment regime for this disorder during pregnancy. Case Presentation. A 26-year-old nulliparous Asian woman with an uneventful medical history was admitted to the hospital at 14 weeks' gestation because of excessive vomiting. Routine laboratory tests showed pancytopenia (Hb 3.5 mmol/L, leukocytes 3.5 *109/L, platelets 45 *109L). A bone marrow biopsy confirmed aplastic anemia. Methylprednisolon, cyclosporine A, packed cells and platelet transfusions were initiated. At 33 weeks she developed neutropenia (0.1 *109/L) for which oral colistin and tobramycin were given prophylactically. At 35 weeks labor was induced, during which she developed a fever of 38.2°C. She gave birth spontaneously to a healthy son weighing 2415 grams, who had no signs of pancytopenia. After delivery the blood count of the patient did not recover and did not respond to medication. Eighteen weeks after delivery she died of sepsis complicated by cerebral bleeding and infarction due to severe thrombocytopenia and neutropenia, despite optimal supportive treatment. Conclusion: This potential life-threatening disease has a relatively good prognosis for both mother and child after optimal treatment. Transfusion during pregnancy is the first choice treatment with recommended hemoglobin levels of 5.5 mmol/L and platelet counts of20 *109/L. Cyclosporine A seems a reasonable alternative therapy with a reported success rate in non-pregnant patients of 70% when combined with antithymocyte globuline. Our patient died 18 weeks postpartum from cerebral bleeding and infarction due to severe thrombocytopenia despite intensive supportive treatment, methylprednisolon and cyclosporine A.

Rapid testing versus karyotyping in Down's syndrome screening: Cost-effectiveness and detection of clinically significant chromosome abnormalities (Article)

2011-01-01T00:00:00Z

In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than karyotyping.In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or karyotyping using a population of 110 948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of 24 084 per Down's syndrome (DS) detected). Using karyotyping, the CE ratio increased to 27 898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was 66 608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of karyotyping.

Ethnic differences in participation in prenatal screening for Down syndrome: A register-based study (Article)

2010-10-01T00:00:00Z

Objective: To assess ethnic differences in participation in prenatal screening for Down syndrome in the Netherlands. Methods: Participation in prenatal screening was assessed for the period 1 January 2009 to 1 July 2009 in a defined postal code area in the southwest of the Netherlands. Data on ethnic origin, socio-economic background and age of participants in prenatal screening were obtained from the Medical Diagnostic Centre and the Department of Clinical Genetics. Population data were obtained from Statistics Netherlands. Logistic regression models were used to assess ethnic differences in participation, adjusted for socio-economic and age differences. Results: The overall participation in prenatal screening was 3865 out of 15 093 (26%). Participation was 28% among Dutch women, 15% among those from Turkish ethnic origin, 8% among those from North-African origin, 15% among those from Aruban/Antillean origin and 26% among women from Surinamese origin. Conclusions: Compared to Dutch women, those from Turkish, North-African, Aruban/Antillean and other non-Western ethnic origin were less likely to participate in screening. It was unexpected that women from Surinamese origin equally participated. It should be further investigated to what extent participation and non-participation in these various ethnic groups was based on informed decision-making.

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

2010-08-01T00:00:00Z

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.

The association of daily physical activity and birth outcome: A population-based cohort study (Article)

2010-06-01T00:00:00Z

The potential relationship between daily physical activity and pregnancy outcome remains unclear because of the wide variation in study designs and physical activity assessment measures. We sought to prospectively quantify the potential effects of the various domains of physical activity on selected birth outcomes in a large unselected population. The sample consisted of 11,759 singleton pregnancies from the Avon longitudinal study of parents and children, United Kingdom. Information on daily physical activity was collected by postal questionnaire for self-report measures. Main outcome measures were birth weight, gestational age at delivery, preterm birth and survival. After controlling for confounders, a sedentary lifestyle and paid work during the second trimester of pregnancy were found to be associated with a lower birth weight, while 'bending and stooping' and 'working night shifts' were associated with a higher birth weight. There was no association between physical exertion and duration of gestation or survival. Repetitive boring tasks during the first trimester was weakly associated with an increased risk of preterm birth (<37 weeks) (adjusted odds ratio [OR] = 1.25, 95% CI 1.04-1.50). 'Bending and stooping' during the third trimester was associated with a reduced risk of preterm birth (adjusted OR = 0.73, 95% CI 0.63-0.84). Demanding physical activities do not have a harmful effect on the selected birth outcomes while a sedentary lifestyle is associated with a lower birth weight. In the absence of either medical or obstetric complications, pregnant women may safely continue their normal daily physical activities should they wish to do so.

The impact of rapid aneuploidy detection (RAD) in addition to karyotyping versus karyotyping on maternal quality of life (Article)

2010-05-01T00:00:00Z

Objective: To assess the impact of rapid aneuploidy detection (RAD) combined with fetal karyotyping versus karyotyping only on maternal anxiety and health-related quality of life. Methods: Women choosing to undergo amniocentesis were selected into group 1, i.e. receiving a karyotype result only (n = 132) or to group 2, i.e. receiving both the result of RAD and karyotyping (n = 181). Results: There were no systematic differences in time of RAD combined with karyotyping versus karyotyping only in terms of anxiety (P = 0.91), generic physical health (P = 0.76, P = 0.46), generic mental health (P = 0.52, P = 0.72), personal perceived control (P = 0.91) and stress (P = 0.13). RAD combined with karyotyping reduced anxiety and stress two weeks earlier compared to karyotyping only. Conclusion: RAD as add-on to karyotyping reduces anxiety and stress in the short term but it does not influence overall anxiety, stress, personal perceived control, and generic mental and physical health when compared to a karyotype-only strategy.

Estimating the effect of gestational age on test performance of combined first-trimester screening for down syndrome: A preliminary study (Article)

2010-05-01T00:00:00Z

Objective: To establish how different methods of estimating gestational age (GA) affect reliability of first-trimester screening for Down syndrome. Methods: Retrospective single-center study of 100 women with a viable singleton pregnancy, who had first-trimester screening. We calculated multiples of the median (MoM) for maternal-serum free beta human chorionic gonadotropin (free b-hCG) and pregnancy associated plasma protein-A (PAPP-A), derived from either last menstrual period (LMP) or ultrasound-dating scans. Results: In women with a regular cycle, LMP-derived estimates of GA were two days longer (range -11 to 18), than crown-rump length (CRL)-derived estimates of GA whereas this discrepancy was more pronounced in women who reported to have an irregular cycle, i.e., six days (range -7 to 32). Except for PAPP-A in the regular-cycle group, all differences were significant. Consequently, risk estimates are affected by the mode of estimating GA. In fact, LMP-based estimates revealed ten "screen-positive" cases compared to five "screen-positive" cases where GA was derived from dating-scans. Conclusion: Provided fixed values for nuchal translucency are applied, dating-scans reduce the number of screen-positive findings on the basis of biochemical screening. We recommend implementation of guidelines for Down syndrome creening based on CRL-dependent rather than LMPdependent parameters of GA.

Ethnic differences in informed decision-making about prenatal screening for Down's syndrome (Article)

2010-03-01T00:00:00Z

Background: The aim of this study was to assess ethnic variations in informed decision-making about prenatal screening for Down's syndrome and to examine the contribution of background and decision-making variables. Methods: Pregnant women of Dutch, Turkish and Surinamese origin were recruited between 2006 and 2008 from community midwifery or obstetrical practices in The Netherlands. Each woman was personally interviewed 3 weeks (mean) after booking for prenatal care. Knowledge, attitude and participation in prenatal screening were assessed following the 'Multidimensional Measure of Informed Choice' that has been developed and applied in the UK. Results: In total, 71% of the Dutch women were classified as informed decision-makers, compared with 5% of the Turkish and 26% of the Surinamese women. Differences between Surinamese and Dutch women could largely be attributed to differences in educational level and age. Differences between Dutch and Turkish women could mainly be attributed to differences in language skills and gender emancipation. Conclusion: Women from ethnic minority groups less often made an informed decision whether or not to participate in prenatal screening. Interventions to decrease these ethnic differences should first of all be aimed at overcoming language barriers and increasing comprehension among women with a low education level. To further develop diversity-sensitive strategies for counselling, it should be investigated how women from different ethnic backgrounds value informed decisionmaking in prenatal screening, what decision-relevant knowledge they need and what they take into account when considering participation in prenatal screening.

Ethnic differences in considerations whether or not to participate in prenatal screening for Down syndrome (Article)

2009-12-01T00:00:00Z

Objective: To evaluate ethnic differences in considerations whether or not to participate in prenatal screening for Down syndrome and to relate these to differences in participation. Method: The study population consisted of 270 pregnant women from Dutch, Turkish and Surinamese (African and South Asian) ethnic origin, attending midwifery or obstetrical practices in the Netherlands. Women were interviewed after booking for prenatal care. Considerations were assessed by one open-ended question and 18 statements that were derived from focus group interviews. Actual participation was assessed several months later. Results: Women from ethnic minorities were less likely to participate in prenatal screening, which could be attributed to differences in age and religious identity. They more often reported acceptance of 'what God gives', low risk of having a child with Down syndrome and costs of screening as considerations not to participate in prenatal screening. They also reported many considerations in favour of participation, which did not differ from those of Dutch women but were less often consistent with actual participation in screening. Conclusions: Women from ethnic minorities should not be stereotyped as being uninterested in prenatal screening, but should be better informed about the consequences of prenatal screening and Down syndrome. Copyright

Information about prenatal screening for Down syndrome Ethnic differences in knowledge. (Article)

2009-04-01T00:00:00Z

OBJECTIVE: To evaluate the provision of information about prenatal screening for Down syndrome to women of Dutch, Turkish and Surinamese origins, and to examine the effects of this provision on ethnic differences in knowledge about Down syndrome and prenatal screening. METHODS: The study population consisted of 105 Dutch, 100 Turkish and 65 Surinamese pregnant women attending midwifery or obstetrical practices in The Netherlands. Each woman was personally interviewed for 3 weeks (mean) after booking for prenatal care. RESULTS: Most women reported to have received oral and/or written information about prenatal screening by their midwife or obstetrician at booking for prenatal care. Turkish and Surinamese women less often read the information than Dutch women, more often reported difficulties in understanding the information, and had less knowledge about Down syndrome, prenatal screening and amniocentesis. Language skills and educational level contributed most to the explanation of these ethnic variations. CONCLUSION: Although most Dutch, Turkish and Surinamese women reported to have received information from their midwife or obstetrician, ethnic differences in knowledge about Down syndrome and prenatal screening are substantial. PRACTICE IMPLICATIONS: Interventions to improve the provision of information to women from ethnic minority groups should especially be aimed at overcoming language barriers, and targeting information to the women's abilities to comprehend the information about prenatal screening for Down syndrome.

Down syndrome screening: Determining the cutoff level of risk for invasive testing (Article)

2009-02-01T00:00:00Z

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: A prospective study of 4000 amniotic fluid samples (Article)

2009-01-01T00:00:00Z

The introduction of prenatal screening requires rapid high-throughput diagnosis of common aneuploidies. Multiplex ligation-dependent probe amplification (MLPA) allows for quick, easily automated multiplex testing of these aneuploidies in one polymerase chain reaction. We performed a large prospective study using MLPA on 4000 amniotic fluid (AF) samples including all indications and compared its value to karyotyping and fluorescence in situ hybridization (FISH). MLPA can reliably determine common aneuploidies with 100% sensitivity and 100% specificity. Moreover, some mosaic cases and structural chromosome aberrations were detected as well. In cases of a male fetus, triploidies can be detected by an aberrant pattern of probe signals, which mimics maternal cell contamination (MCC). Macroscopic blood contamination was encountered in 3.2% of the AF samples. In 20% of these samples, an MLPA pattern was found consistent with MCC, although there were no false negatives of the most common aneuploidies. As the vast majority of inconclusive results (1.7%) is due to potential MCC, we designed a protocol in which we determine whether MLPA can be performed on blood-contaminated AF samples by testing if blood is of fetal origin. Then, the number of inconclusive results could be theoretically reduced to 0.05%. We propose an alternative interpretation of relative probe signals for rapid aneuploidy diagnosis (RAD). We discuss the value of MLPA for the detection of (submicroscopic) structural chromosome anomalies. MLPA is a reliable method that can replace FISH and could be used as a stand-alone test for RAD instead of karyotyping.

Perinatale uitkomsten in de vier grote steden en de prachtwijken in Nederland (Article)

2008-12-13T00:00:00Z

Doel. Het verband tussen woonwijk, etniciteit en ongunstige perinatale uitkomsten analyseren bij zwangeren in de 4 grootste steden (Amsterdam, Rotterdam, Den Haag en Utrecht; G4) en in de rest van Nederland. Opzet. Descriptief, retrospectief. Methode. De perinatale uitkomst van 877.816 eenlingzwangerschappen in Nederland in de periode 2002-2006, vastgelegd in de Perinatale Registratie Nederland, werd geanalyseerd op etniciteit van de zwangere (westers of niet-westers) en op woonwijk (achterstandswijk (‘prachtwijk’) of niet) in de G4-steden en daarbuiten. Een ongunstige perinatale uitkomst was gedefinieerd als perinatale sterfte, congenitale afwijkingen, dysmaturiteit, vroeggeboorte, een apgar-score na 5 minuten < 7 en/of opname op een neonatale intensivecareunit. Resultaten. Het perinatale sterftecijfer was in de G4-steden hoger dan in de rest van Nederland (11,1 versus 9,3‰; p < 0,001; 95%-BI van het verschil: 1,2-2,4‰). Hetzelfde gold voor het totaal van ongunstige perinatale uitkomsten (154,9 versus 138,9‰). In de G4-steden was de perinatale sterfte in de groep niet-westerse vrouwen hoger dan in de groep westerse vrouwen (13,2 versus 9,5‰). Het wonen in een prachtwijk gaat gepaard met een hogere perinatale sterfte dan in een niet-prachtwijk (13,5 versus 9,3‰). De relatieve risico’s van het wonen in een prachtwijk zijn groter bij westerse dan bij niet-westerse vrouwen. Conclusie. Vrouwen in de G4-steden hebben een sterk verhoogde kans op een ongunstige perinatale uitkomst. Wonen in een prachtwijk vormt een nog groter risico, vooral voor westerse zwangeren. Deze bevindingen zijn van belang voor het vaststellen van nieuwe strategieën ter verbetering van de perinatale uitkomst.

Jugular lymphatic sacs in the first trimester of pregnancy: The prevalence and the potential value in screening for chromosomal abnormalities (Article)

2008-11-01T00:00:00Z

Objective: To investigate the prevalence of detectable jugular lymphatic sacs in a setting for first trimester screening for Down syndrome, and to evaluate the influence of jugular lymphatic sacs on the screening performance for chromosomal abnormalities. Methods: A prospective single center study (Erasmus University Medical Center, Rotterdam, The Netherlands) over a period of one year (January 2003-February 2004). First trimester nuchal translucency measurement was performed in a study population of 415 fetuses. Additionally, the transversal plane with the spine and mandible was visualized to verify the presence of jugular lymphatic sacs. The jugular lymphatic sacs were measured anterior-posterior. The association between nuchal translucency and jugular lymphatic sacs was tested. Results: Follow-up was complete in 406 cases (97.8%). Jugular lymphatic sacs could be visualized in 98 out of 415 (23.5%). The nuchal translucency thickness and the mean of the left and right jugular lymphatic sac were significantly correlated. Conclusion: The sonographic visualization of jugular lymphatic sacs significantly predicts chromosomal abnormalities, although nuchal translucency is a better predictor. Nuchal translucency and jugular lymphatic sacs are strongly correlated and therefore not applicable in a combination test.

The incidence of neonatal herpes in The Netherlands (Article)

2008-08-01T00:00:00Z

Background: In The Netherlands the incidence of neonatal herpes was 2.0-2.9 per 100,000 live births during the period 1981-1998. The low incidence warranted a rather conservative prevention policy. Objectives: To monitor for potential changes in the incidence of neonatal herpes in The Netherlands between 1999 and 2005, which may affect the prevention policy. Study design: Questionnaires were sent to all virological laboratories, the gynaecological and paediatric departments of every university hospital and half the number of the general hospitals in The Netherlands. The questionnaires pertained to the incidence of proven cases of neonatal herpes, the numbers of caesarean sections performed for the prevention of neonatal herpes and the numbers of pregnant women with genital herpes. Results: In the period 1999-2005 33 cases of neonatal herpes were reported, yielding an incidence of 3.2 cases per 100,000 live births per year. The estimated annual numbers of pregnant women with genital herpes ranged from 200 to 240. Approximately 9 caesarean sections were performed annually to prevent neonatal herpes. Conclusions: In The Netherlands neonatal herpes is still a rare condition. From the findings of this study it is concluded that it is not necessary to revise the Dutch guidelines for the prevention of neonatal herpes simplex infection.

Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study (Article)

2008-05-20T00:00:00Z

Abstract BACKGROUND: In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT) has a high accuracy and reliability. However, it is labor intensive, the results take 14-21 days, the costs are high and unwanted findings such as abnormalities with unknown clinical relevance are not uncommon. These disadvantages challenged the practice of karyotyping. Multiplex ligation-dependent probe amplification (MLPA) is a new molecular genetic technique in prenatal diagnosis. Previous preclinical evidence suggests equivalence of MLPA and traditional karyotyping (TKT) regarding test performance. METHODS/DESIGN: The proposed study is a multicentre diagnostic substitute study among pregnant women, who choose to have amniocentesis for the indication advanced maternal age and/or increased risk following prenatal screening test. In all subjects, both MLPA and karyotyping will be performed on the amniotic fluid sample. The primary outcome is diagnostic accuracy. Secondary outcomes will be maternal quality of life, women's preferences and costs. Analysis will be intention to treat and per protocol analysis. Quality of life analysis will be carried out within the study population. The study aims to include 4500 women. DISCUSSION: The study results are expected to help decide whether MLPA can replace traditional karyotyping for 'low-risk' pregnancies in terms of diagnostic accuracy, quality of life and women's preferences. This will be the first clinical study to report on all relevant aspects of the potential replacement.

Decision-Making after Ultrasound Diagnosis of Fetal Abnormality (Article)

2008-05-01T00:00:00Z

During the last few decades, the use of ultrasonography for the detection of fetal abnormalities has become widespread in many industrialised countries. This resulted in a shift in timing of the diagnosis of congenital abnormalities in infants from the neonatal period to the prenatal period. This has major implications for both clinicians and the couples involved. In case of ultrasound diagnosis of fetal anomaly there are several options for the obstetric management, ranging from standard care to non-aggressive care to termination of pregnancy. This essay explores the context of both clinical and parental decision-making after ultrasound diagnosis of fetal abnormality, with emphasis on the Dutch situation. While normal findings at ultrasound examination have strong beneficial psychological effects on the pregnant woman and her partner, the couple are often ill-prepared for bad news about the health of their unborn child in the case of abnormal findings. When parents consider end-of-life decisions, they experience both ambivalent and emotional feelings. On the one hand, they are committed to their pregnancy; on the other hand, they want to protect their child, themselves and the family from the burden of severe disability. These complex parental reactions have implications for the counselling strategy. © 2008 Reproductive Health Matters.

Decision-making after ultrasound diagnosis of fetal abnormality (Article)

2007-11-01T00:00:00Z

During the last few decades, the use of ultrasonography for the detection of fetal abnormalities has become widespread in many industrialised countries. This resulted in a shift in timing of the diagnosis of congenital abnormalities in infants from the neonatal period to the prenatal period. This has major implications for both clinicians and the couples involved. In case of ultrasound diagnosis of fetal anomaly, there are several options for the obstetric management, ranging from standard care to non-aggressive care and termination of pregnancy. This essay explores the context of both clinical and parental decision making after ultrasound diagnosis of fetal abnormality, with emphasis on the Dutch situation. While normal findings at ultrasound examination have strong beneficial psychological effects on the pregnant woman and her partner, the couple is often ill prepared for bad news about the health of their unborn child in the case of abnormal findings. This is, in particular, true in settings where ultrasonography for the detection of fetal abnormalities is offered as an integral part of antenatal care without appropriate counselling. An important question is to what extent the couple should be supported in decision making when a fetal abnormality is diagnosed. In this context, the parental perception of having a choice varies markedly. When parents consider end-of-life decisions, they experience both ambivalent and emotional feelings. On the one hand, they are committed to their pregnancy, while on the other hand, they want to protect their child, themselves and the family from the burden of severe disability. These complex parental reactions have implications for the counselling strategy.

Ethnic differences in determinants of participation and non-participation in prenatal screening for Down syndrome: A theoretical framework (Article)

2007-10-01T00:00:00Z

Objective: To develop a theoretical framework for analysing ethnic differences in determinants of participation and non-participation in prenatal screening for Down syndrome. Methods: We applied Weinstein's Precaution Adoption Process (PAP) Model to the decision of whether or not to participate in prenatal screening for Down syndrome. The prenatal screening stage model was specified by reviewing the empirical literature and by data from seven focus group interviews with Dutch, Turkish and Surinamese pregnant women in the Netherlands. Results: We identified 11 empirical studies on ethnic differences in determinants of participation and nonparticipation in prenatal screening for Down syndrome. The focus group interviews showed that almost all stages and determinants in the stage model were relevant in women's decision-making process. However, there were ethnic variations in the relevance of determinants, such as beliefs about personal consequences of having a child with Down syndrome or cultural and religious norms. Discussion: The prenatal screening stage model can be applied as a framework to describe the decision-making process of pregnant women from different ethnic backgrounds. It provides scope for developing culturally sensitive, tailored methods to guide pregnant women towards informed decision-making on participation or non-participation in prenatal screening for Down syndrome. Copyright

Induction of labour versus expectant management in women with preterm prelabour rupture of membranes between 34 and 37 weeks (the PPROMEXIL-trial) (Article)

2007-07-06T00:00:00Z

Background: Preterm prelabour rupture of the membranes (PPROM) is an important clinical problem and a dilemma for the gynaecologist. On the one hand, awaiting spontaneous labour increases the probability of infectious disease for both mother and child, whereas on the other hand induction of labour leads to preterm birth with an increase in neonatal morbidity (e.g., respiratory distress syndrome (RDS)) and a possible rise in the number of instrumental deliveries. Methods/Design: We aim to determine the effectiveness and cost-effectiveness of immediate delivery after PPROM in near term gestation compared to expectant management. Pregnant women with preterm prelabour rupture of the membranes at a gestational age from 34+0 weeks until 37+0 weeks will be included in a multicentre prospective randomised controlled trial. We will compare early delivery with expectant monitoring. The primary outcome of this study is neonatal sepsis. Secondary outcome measures are maternal morbidity (chorioamnionitis, puerperal sepsis) and neonatal disease, instrumental delivery rate, maternal quality of life, maternal preferences and costs. We anticipate that a reduction of neonatal infection from 7.5% to 2.5% after induction will outweigh an increase in RDS and additional costs due to admission of the child due to prematurity. Under these assumptions, we aim to randomly allocate 520 women to two groups of 260 women each. Analysis will be by intention to treat. Additionally a cost-effectiveness analysis will be performed to evaluate if the cost related to early delivery will outweigh those of expectant management. Long term outcomes will be evaluated using modelling. Discussion: This trial will provide evidence as to whether induction of labour after preterm prelabour rupture of membranes is an effective and cost-effective strategy to reduce the risk of neonatal sepsis.

Undergoing prenatal screening for Down's syndrome: Presentation of choice and information in Europe and Asia (Article)

2007-05-01T00:00:00Z

To date, studies assessing whether the information given to people about screening tests facilitates informed choices have focussed mainly on the UK, US and Australia. The extent to which written information given in other countries facilitates informed choices is not known. The aim of this study is to describe the presentation of choice and information about Down's syndrome in written information about prenatal screening given to pregnant women in five European and two Asian countries. Leaflets were obtained from clinicians in UK, Netherlands, Spain, Italy, Czech Republic, China and India. Two analyses were conducted. First, all relevant text relating to the choice about undergoing screening was extracted and described. Second, each separate piece of information or statement about the condition being screened for was extracted and then coded as either positive, negative or neutral. Only Down's syndrome was included in the analysis since there was relatively little information about other conditions. There was a strong emphasis on choice and the need for discussion about prenatal screening tests in the leaflets from the UK and Netherlands. The leaflet from the UK gave most information about Down's syndrome and the smallest proportion of negative information. By contrast, the Chinese leaflet did not mention choice and gave the most negative information about Down's syndrome. Leaflets from the other countries were more variable. This variation may reflect cultural differences in attitudes to informed choice or a failure to facilitate informed choice in practice. More detailed studies are needed to explore this further.

Prenatal diagnosis in the Netherlands, 1991-2000: Number of invasive procedures, indications, abnormal results and terminations of pregnancy (Article)

2007-03-01T00:00:00Z

Objective: To provide an overview of invasive prenatal diagnosis in the Netherlands and to analyse trends. Methods: Annual results from all centres for invasive prenatal diagnosis in the Netherlands over the period 1991-2000 were combined and described, with particular emphasis on indications, abnormal results, type of invasive procedures, and terminations of pregnancy. Results: The percentage of invasive prenatal diagnosis increased from 5% of births in 1991 to 6% in 1996 and subsequently remained at that level. During the study period, the number of pregnant women aged 36 and older increased by 70%, but the number of procedures performed because of maternal age remained stable. The detection rate for abnormal results was 2-3% for maternal age and rose from 9 to 13% for other indications. Other trends during the study period included a relative decrease in cordocentesis (-82%) and chorionic villi biopsy (-18%) in favour of amniocentesis (+48%), and a strong decrease in the number of amniocentesis procedures for increased risk of neural tube defect. In 71% of the cases with abnormal results, the pregnancy was terminated. Conclusion: There was a significant decrease in the percentage of pregnant women aged 36 or older who underwent invasive prenatal diagnosis without previous screening. Copyright

Impact of decision-making in a multidisciplinary perinatal team (Article)

2007-02-01T00:00:00Z

Objectives: (1) To describe the characteristics of decision-making about management of unborn infants with serious anomalies by a multidisciplinary perinatal team. (2) To evaluate the impact of multidisciplinary team discussions on the degree to which decisions about the management of unborn infants with serious anomalies are supported. (3) To evaluate the impact of the team discussions on the arguments used by physicians for their preferences concerning management. Methods: Prospective analysis of 78 cases discussed within the multidisciplinary perinatal team of a tertiary centre by means of an anonymous one-page questionnaire with structured questions pertaining to the opinion of the responder on medical management of each case. Results: We did not find systematic differences between specialties prior to the discussion of cases. However, discussion with the multidisciplinary perinatal team improved decision-making about management of unborn infants with serious anomalies by enhancing the degree of support for the decisions taken. The discussions of the team did not change the physicians' arguments mentioned for their preferences. Conclusion: Multidisciplinary team discussions improve decision-making about management of unborn infants with serious congenital anomalies. Copyright

Screening in women's health, with emphasis on fetal Down's syndrome, breast cancer and osteoporosis (Article)

2006-09-01T00:00:00Z

Screening tests have become increasingly popular in women's health care over the last two decades. The initiative for screening is typically generated by either an agency or the health care professional being consulted for some reason. In many instances, however, the demand for screening tests is patient driven with the health care provider being poorly prepared to determine the usefulness of screening. This review illustrates the complexity of screening using three disorders where early detection and treatment have the potential to improve the quality and longevity of life. Prenatal diagnosis of Down's syndrome does not offer the parents the opportunity for cure but does offer the opportunity for education and rational choice as the impact of the diagnosis on the family is weighed. The evidence for breast cancer screening is more persuasive for older than younger women, but even in older women, there is a balance of risks and benefits. Treatment options for osteoporosis have improved in terms of reductions in fracture risk as well as beneficial effects on bone density, but evidence of the effectiveness of a screening programme for this condition in an unselected population is lacking. Ultimately, it is crucial that women be provided with clear and comprehensive information about the screening programme, in terms of possible gains but also costs of various kinds: physical, economic and psychological.