Paul Ramaekers

Benign multiple diffuse neonatal hemangiomatosis after a pregnancy complicated by polyhydramnios and a placental chorioangioma

A male newborn with multiple cutaneous hemangiomatosis is described. Pregnancy was complicated by polyhydramnios and a large placental chorioangioma. After an initial outburst of the hemangiomas in the first two weeks of life, spontaneous and almost complete regression occurred before the age of 3 months. The relationship between hemangiomas and placental chorioangioma is briefly discussed.

ISUOG Practice Guidelines: performance of fetal magnetic resonance imaging

The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) is a scientific organization that encourages sound clinical practice, and high-quality teaching and research related to diagnostic imaging in women’s healthcare. The ISUOG Clinical Standards Committee (CSC) has a remit to develop Practice Guidelines and Consensus Statements as educational recommendations that provide healthcare practitioners with a consensus-based approach, from experts, for diagnostic imaging. They are intended to reflect what is considered by ISUOG to be the best practice at the time at which they are issued. Although ISUOG has made every effort to ensure that Guidelines are accurate when issued, neither the Society nor any of its employees or members accepts any liability for the consequences of any inaccurate or misleading data, opinions or statements issued by the CSC. The ISUOG CSC documents are not intended to establish a legal standard of care because interpretation of the evidence that underpins the Guidelines may be influenced by individual circumstances, local protocol and available resources. Approved Guidelines can be distributed freely with the permission of ISUOG (info@isuog.org). These guidelines are based on consensus reached between participants following a survey of current practices, conducted by ISUOG in 2014 (Appendix S1).

Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report

A newborn boy is described with semilobar holoprosencephaly, cebocephaly with single nostril, median pseudocleft of upper lip, postaxial polydactyly, hypogenitalism, Hischsprungs disease and survival till the age of 13 weeks. Chromosomal analysis on lymphocytes was normal. Up to now, three other patients with this malformation complex have been described. Together with the present patient, they are apparently the first examples of a new malformation syndrome.

Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies

Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD.

Re : Prenatal detection of congenital heart disease-results of a national screening programme

Sir, We have read with interest the article by van Velzen and co-workers that reports a significant increase in the prenatal detection rate of congenital heart disease (CHD) after the introduction of a national screening programme in the Netherlands. Recently we analysed the prenatal detection rate of 1865 fetuses with a morphological CHD, diagnosed during pregnancy up until their first birthday, in the province of Antwerp, Belgium, using data from the European Surveillance of Congenital AnomaliesAntwerp (EUROCAT) over 16 years. Antwerp represents almost 30% of all births in Flanders (the northern part of Belgium). In contrast to the results reported by van Velzen et al., our data revealed a disappointingly low prenatal detection rate of 29.3% for allmorphological CHD, and 40.2% for severe CHD. Only 48.0% of these were diagnosed before the end of the 24th week of pregnancy. This was 51.0% for severe CHD. Therefore, the detection rate of morphological CHD before the end of 24 weeks of gestation is 14.1%, and 20.5% for severe CHD. The increasing trend of the detection rate over this 16-year period is significant (P < 0.0001; Table 1). This is probably the effect of the mandatory ultrasound course during training for obstetrics. Both our group and the group reported on by van Velzen have similar demographic characteristics: Flanders and the Netherlands constitute geographic neighbours. In Flanders, standard mid-trimester anomaly scans have been performed for over 18 years already. Local guidelines are based on the guidelines of the International Society of Ultrasound. For the last 10 years, the Flemish Association of Gynaecology and Obstetrics (VVOG), in collaboration with the Flemish Society of Ultrasound (VVVE), have made major efforts to offer training to all sonographers. In contrast to the Netherlands, no licence is required to perform the anomaly scan, and reimbursement by national health insurance is independent from training and qualification. The improving detection rate in the group studied by van Velzen is clearly the result of better ultrasound screening. The study shows that training, followed by certification and permanent quality control, are mandatory to maintain the standards expected by women. Our numbers confirm that continuing training can significantly improve the detection percentage of CDH in a general population.&

Bladder exstrophy–epispadias complex and triple-X syndrome: Incidental finding or causality?

BACKGROUND Bladder exstrophy is a rare malformation. Prenatal diagnosis is usually an incidental finding on routine ultrasound examination. Triple-X syndrome (karyotype 47,XXX) is the most frequent sex chromosome aneuploidy in live-born females (approximately 1 in 1000). The diagnosis is often not made because women with 47,XXX karyotype have no or hardly any clinical symptoms during life. METHODS Prenatal diagnosis of triple X karyotype is usually an incidental finding when an invasive prenatal diagnosis is performed for other reasons. RESULTS Here, we report on two cases with bladder exstrophy and triple-X syndrome, one in a fetus and one in an adult. In view of two previous reports of this association in literature, causality of these two conditions should be considered. CONCLUSION A gene dosage effect as possible underlying mechanisms will be discussed.

Prenatale cardiologie anno 2016

Foetale cardiologie is een aparte discipline binnen de kindercardiologie en wordt uitgeoefend binnen een multidisciplinair team met gynaecologen gespecialiseerd in prenatale geneeskunde, neonatologen, genetici, cardiochirurgen en paramedici. De expertise van een kindercardioloog met ervaring in foetale cardiologie wordt vooral ingeroepen indien bij screening een foetale hartafwijking wordt vermoed. Door middel van echografie wordt een zo volledig mogelijke diagnose gesteld met aandacht voor de details die de cardiale prognose zullen bepalen. Tijdens een uitgebreid gesprek met de ouders wordt uiteengezet wat de hartafwijking inhoudt en wat de mogelijke behandelingsopties zijn. Bij de bespreking van de uiteindelijke prognose wordt niet enkel rekening gehouden met de mogelijke evolutie tijdens de zwangerschap, maar ook met eventuele geassocieerde structurele en/of genetische afwijkingen. Er wordt, samen met het koppel en de gynaecoloog, een planning opgesteld voor het verdere verloop van de zwangerschap en de partus. Tijdens de prenatale raadplegingen wordt veel aandacht besteed aan een goede (psychologische) voorbereiding van de ouders zodat ze zich na de geboorte volledig kunnen concentreren op de zorg voor hun zieke kind. Een prenatale behandeling is voorbehouden voor specifieke casussen, voornamelijk van tachyaritmie. Optimale prenatale diagnostiek heeft voornamelijk een gunstig effect op de mortaliteit van aritmie, coarctatio en transpositie van de grote vaten.

Relapsing fetal bilateral hydrothorax, an isolated expression of a vein of Galen aneurysmal malformation.

We report a case of bilateral fetal hydrothorax presenting at 20 weeks of pregnancy, spontaneously resolving at 22 weeks and severely relapsing at 28 weeks in a fetus with normal karyotype. The cause was a high-output heart failure caused by vein of Galen malformation.

OP12.01: Low sensitivity in screening for congenital heart diseases by nuchal translucency in a low risk population of 102,472 pregnancies

Objectives: In Flanders (the Dutch speaking Northern part of Belgium) the prenatal detection rate of congenital heart diseases (CHD) is very low. The primary goal of this retrospective study is to determine the sensitivity, positive and negative predictive value (PPV and NPV) of nuchal translucency (NT) measurement for prenatal CHD diagnosis in a general low risk population and to consider if NT measurement is an effective screening tool for CHD. Methods: We used the registry of the General Medical Laboratory, handling the largest percentage of maternal serum samples for first trimester aneuploidy screening in Flanders, to select those fetuses with an enlarged NT. The outcome of these pregnancies was collected from the referring gynecologists and ultrasonographers. Results: In 102,472 maternal serum samples over a 9 years period, 303 (0.30%) pregnancies, had -at least onefetus with a NT of ≥3.5 mm. 156 fetuses were suitable for analysis. In this group the overall incidence of CHD was 7.7% in fetuses with a normal karyotype. The sensitivity for CHD in the group with a NT of ≥3.5 mm and normal fetal karyotype is 1.9% with a specificity of 99.9%, positive predictive value of 7.1% and negative predictive value of 99.4%. The false positive rate is 0.14%. The false negative rate is 98.1%. The likelihood ratio is 13.6. Conclusions: Low sensitivity and high false negative rate make first trimester NT measurement not an effective screening tool for CHD detection at population level.