Search

Objective To evaluate preferences and decision‐making among high‐risk pregnant women offered a choice between Non‐Invasive Prenatal Testing (NIPT), invasive testing or no further testing. Methods Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first‐trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice. Results A total of 1091/1253 (87%) women completed the questionnaire. Of these, 1053 (96.5%) underwent NIPT, 37 (3.4%) invasive testing and 1 (0.1%) declined testing. 91.7% preferred NIPT because of test safety. Overall, 77.9% made an informed choice, 89.8% had sufficient knowledge and 90.5% had positive attitudes towards NIPT. Women with intermediate (odds ratio (OR) = 3.51[1.70–7.22], p, What's already known about this topic? NIPT is offered as alternative to invasive testing to screen pregnant women at high risk for fetal aneuploidy.Although NIPT has many advantages, concerns have been raised about the consequences for informed decision‐making. What does this study adds? Implementation of NIPT in a national healthcare‐funded prenatal screening program, accompanied by pre‐test counseling, results in most women having sufficient knowledge and making an informed choiceCompared to women choosing invasive testing, women undergoing NIPT have less intention to terminate the pregnancy for Down syndrome.

ObjectivesTo assess the perinatal mortality and the postnatal outcome in fetal lower urinary tract obstructions (LUTO) according to the prenatal management.MethodsThis was a retrospective study of all cases with suspected LUTO encountered in a ten-year period (2005 – 2014) in all 8 academic centres in the Netherlands and eventually treated at the Leiden University Medical Center. Antenatal management, sonographic findings and postnatal outcome were documented. The postnatal renal function (estimated Glomerular Filtration Rate or eGFR) was calculated using the Schwartz formula, considering the length of the infants and the nadir creatinine within one year of postnatal surgical intervention.Results341 fetuses were included: 275 cases with conservative management, 29 cases with vesico-amniotic shunting and 37 LUTO managed with vesicocentesis. The survival rate was respectively 76.7%, 82.6% and 60%. Oligohydramnios, abnormal karyotype and severe associated anomalies were significantly different comparing shunting to conservative management (respectively 100% vs 55%; 0% vs 15%; 24% vs 3%). Subgroup analysis was unable to show a significant difference in survival rate and postnatal renal function in vesico-amniotic shunt placement versus conservative management (survival rate: 68% vs 79%, p > 0.05; eGFR: 52 ml/min/1.73 m2 vs 61 ml/min/1.73 m2, p > 0.05).ConclusionsLUTO cases treated over the past ten years with vesico-amniotic shunt did not show any significant improvement in perinatal survival and postnatal renal function. The study suggests that prenatal selection of cases eligible for the treatment needs further refinement.

Background: Preterm birth is a major cause of neonatal mortality and morbidity. As preventive strategies are largely ineffective, threatened preterm labor is a frequent problem that affects approximately 10 % of pregnancies. In recent years, risk assessment in these women has incorporated cervical length measurement and fetal fibronectin testing, and this has improved the capacity to identify women at increased risk for delivery within 14 days. Despite these improvements, risk for preterm birth continues to be increased in women who did not deliver after an episode of threatened preterm labor, as indicated by a preterm birth rate between 30 to 60 % in this group of women. Currently no effective treatment is available. Studies on maintenance tocolysis and progesterone have shown ambiguous results. The pessary has not been evaluated in women with threatened preterm labor, however studies in asymptomatic women with a short cervix show reduced rates of preterm birth rates as well as perinatal complications. The APOSTEL VI trial aims to assess the effectiveness of a cervical pessary in women who did not deliver within 48 h after an episode of threatened preterm labor. Methods/Design: This is a nationwide multicenter open-label randomized clinical trial. Women with a singleton or twin gestation with intact membranes, who were admitted for threatened preterm labor, at a gestational age between 24 and 34 weeks, a cervical length between 15 and 30 mm and a positive fibronectin test or a cervical length below 15 mm, who did not deliver after 48 h will be eligible for inclusion. Women will be allocated to a pessary or no intervention (usual care). Primary outcome is preterm delivery

OBJECTIVES:Congenital heart defects (CHDs) are reported to be associated with a smaller fetal head circumference (HC) and neurodevelopmental delay. Recent studies suggest that altered intrauterine brain hemodynamics may explain these findings. Our objectives were to evaluate the pattern of head growth in a large cohort of fetuses with various types of CHD, analyze these patterns according to the type of CHD and estimate the effect of cerebral hemodynamics with advancing gestation in the second and third trimesters.METHODS:Singleton fetuses with an isolated CHD were selected from three fetal medicine units (n = 436). Cases with placental insufficiency or genetic syndromes were excluded. CHD types were clustered according to the flow and oxygen saturation in the aorta. Z-scores of biometric data were constructed using growth charts of a normal population. HC at different gestational ages was evaluated and univariate and multivariate mixed regression analyses were performed to examine the patterns of prenatal HC growth.RESULTS:Fetuses with severe and less severe types of CHD demonstrated statistically significant HC growth restriction with increasing gestational age (slope of -0.017/day); however, there was no statistically significant effect of fetal hemodynamics on HC growth. Fetuses with CHD but normal brain oxygenation and normal aortic flow showed a significant decrease in HC growth (slope of -0.024/day). Only fetuseswith isolated tetralogy of Fallot demonstrated a smaller HC z-score at 20 weeks of gestation (-0.67 (95% CI, -1.16 to -0.18)).CONCLUSIONS:Despite the decline in head growth in fetuses with a prenatally detected isolated CHD, HC values were within the normal range, raising the question of its clinical significance. Furthermore, in contrast to other studies, this large cohort did not establish a significant correlation between aortic flow or oxygen saturation and HC growth. Factors other than altered fetal cerebral hemodynamics may contribute to HC growth restriction with increasing gestational age, such as (epi)genetic or placental factors. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Objectives: To demonstrate the spectrum of copy number variants (CNVs) in fetuses with isolated left sided congenital heart defects (CHDs), and analyze genetic content. Methods: Between 2003 and 2012, 200 fetuses were identified with left sided CHD. Exclusion criteria were chromosomal rearrangements, 22q11.2 microdeletion and/or extra-cardiac malformations (n=64). We included cases with additional minor anomalies (n=39), such as single umbilical artery. In 54 of 136 eligible cases, stored material was available for array analysis. CNVs were categorized as either (likely) benign, (likely) pathogenic or of unknown significance. Results: In 18 of the 54 isolated left sided CHDs we found 28 rare CNVs (prevalence 33%, average 1.6 CNV per person size 10.6kb – 2.2Mb). Our interpretation yielded clinically significant CNVs in 2 of 54 cases (4%) and variants of unknown significance in 3 other cases (6%). Conclusions: In left sided CHDs that appear isolated, with normal chromosome analysis and 22q11.2 FISH analysis, array analysis detects clinically significant CNVs. When counselling parents of a fetus with a left sided CHD it must be taken into consideration that aside from the cardiac characteristics, the presence of extra-cardiac malformations and chromosomal abnormalities influence the treatment plan and prognosis.

To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers. This was a multicenter cohort study of tertiary echocardiography referrals between 2002 and 2012. Prenatal and postnatal diagnoses were compared and the degree of agreement was classified as 'correct' (anatomy correct and the postnatal diagnosis led to a similar outcome as expected), 'discrepant' (anatomical discrepancies present but the severity and prognosis of the defect were diagnosed correctly) or 'no similarity' (the pre- and postnatal diagnoses differed completely). We included 708 cases with CHD for which both prenatal and postnatal data were available. The prenatal diagnosis was correct in 82.1% of cases and discrepancies present were present in 9.9%; however, these did not result in a different outcome. In 8.1% there was no similarity between prenatal and postnatal diagnoses. Disagreement between pre- and postnatal diagnoses occurred significantly more frequently in cases that presented with a normal four-chamber view than in those with an abnormal four-chamber view (5.5% vs 1.9%). Incorrect identification of the outflow tracts and incorrect differentiation between unbalanced atrioventricular septal defect and hypoplastic left heart syndrome were relatively commonly encountered. In many cases with disagreement, trisomy 21, extracardiac anomaly or a high maternal body mass index was present. The prenatal diagnosis and estimated prognosis of fetal echocardiography in our tertiary referral centers were appropriate in 92% of cases. Some types of CHD remain difficult to diagnose or rule-out prenatally, therefore awareness and education are of considerable importance. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd

Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury) gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene.

Objective The aim of the study is to study pregnant women's views on noninvasive prenatal testing (NIPT) for Down syndrome and the potential to test for a broader range of conditions. MethodsAn online questionnaire available on the Dutch pregnancy fair website was completed by 381 pregnant women. ResultsOf the women, 51% expressed interest in having NIPT, including 33% of women who had declined first-trimester screening. The majority (73%) thought that the uptake of screening would increase with NIPT. Most women agreed that testing for life-threatening (89%), severe physical (79%), or severe mental (76%) disorders should be offered. A minority (29%) felt that prenatal screening should also be offered for late-onset disorders. Most (41%) preferred to have a free choice from a list of disorders, 31% preferred a closed offer', and 26% preferred choosing between packages of disorders. Although most women (76%) thought that screening for a broad range of conditions would avoid much suffering, 39% feared that it would confront couples with choices, the implications of which would be difficult to grasp. ConclusionThe results suggest that the uptake of screening will increase with NIPT. If NIPT will be offered for a broad range of conditions, it is crucial to find a way that facilitates rather than undermines well-informed decision-making.

Item does not contain fulltext OBJECTIVES: To ascertain the incidence and demographic data of TOP for hypertensive disorders at the limits of fetal viability. METHODS: We conducted a retrospective cohort study. All terminations for hypertensive disorders between 2000 and 2009 in the ten Dutch tertiary care centers with a gestational age between 22 and 28weeks were included. In all cases the fetus was judged to be non-viable, either because of the low gestational age or because of the effects of the maternal condition on the fetus. There was no intention to intervene for fetal indications. RESULTS: During the study period TOP for hypertensive disorders occurred in 0.8promille (131/163.052) of all deliveries in these 10 centers, of which there were 126 singleton and five twin pregnancies. 94 women were nulliparous and 37 multiparous. The main indication for TOP was HELLP syndrome. General history revealed hypertension in 24 women (18.3%). History was unremarkable in 98 cases (75%). The mean gestational age at admission was 166days+/-9.6days (GA 23+5), and at delivery this was 173days+/-9.7days (GA 24+5weeks). The mean birth weight was 472+/-123g (70%

Objective The aim of this study was to investigate health professionals' opinions toward offering noninvasive prenatal testing (NIPT) as first-tier screening test regardless of pregnant women's risk, and toward a potential broader range of disorders. Methods A questionnaire completed by obstetric health professionals (n = 240) after an in-service NIPT training in the West and North of the Netherlands. Results The majority (72%) of respondents favored replacing first-trimester combined test (FCT) by NIPT, although 43% preferred to maintain nuchal translucency measurement. Many respondents believed that replacing FCT by NIPT would only have advantages (57%), would lead to more pregnant women opting for prenatal testing (69%), and would simplify counseling (47%). Differences in attitudes toward counseling between health professionals were observed. When considering NIPT to screen for broader range of disorders, the majority (92%) thought that this should include disorders characterized by neonatal death, whereas 52% of the respondents favored testing for fetomaternal risk factors. Overall, 46% thought screening should be offered as a fixed list of disorders. Conclusion Most health professionals favor NIPT instead of FCT but prefer to maintain nuchal translucency measurement. If NIPT becomes available as a first-tier screening test, attention remains necessary to ensure that pregnant women make well-informed decisions in line with the aim of prenatal screening.