Ernst M. Schoonderwaldt

Erasmus MC

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Eric A.P. Steegers

Erasmus MC - Sophia Children’s Hospital

Johannes J. Duvekot

Erasmus University Rotterdam

J. W. Wladimiroff

Cambridge University Hospitals NHS Foundation Trust

Henk Schierbeek

University of Amsterdam

Chris H.P. van den Akker

Amsterdam University Medical Centers

Johannes B. van Goudoever

Amsterdam University Medical Centers

András Vermes

Erasmus University Rotterdam

Irene A.L. Groenenberg

Erasmus University Rotterdam

Hajo I. J. Wildschut

Erasmus MC

Diane Van Opstal

Erasmus MC

Cooperative Institutions

Erasmus MC

Erasmus University Rotterdam

Erasmus MC - Sophia Children’s Hospital

Rotterdam University of Applied Sciences

University of Amsterdam

University Medical Center Utrecht

Amsterdam University Medical Centers

Erasmus MC Cancer Institute

Academic Medical Center

Radboud University Nijmegen

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Human fetal amino acid metabolism at term gestation

American Journal of Clinical Nutrition (2008)

Chris H.P. van den Akker Henk Schierbeek Kristien Dorst Ernst M. Schoonderwaldt András Vermes

Umbilical artery

Phenylketonurias

Catabolism

10.3945/ajcn.2008.26553

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Citations (40)

Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature

American Journal of Medical Genetics Part A (2007)

Merel Klaassens R. J. H. Galjaard Daryl A. Scott Hennie T. Brüggenwirth Diane Van Opstal

Abstract Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by a defect in the diaphragm with pulmonary hypoplasia and postnatal pulmonary hypertension. Approximately 50% of CDH cases are associated with other non‐pulmonary congenital anomalies (so called non‐isolated CDH) and in 5–10% of cases there is a chromosomal etiology. The majority of CDH cases are detected prenatally. In some cases prenatal chromosome analysis reveals a causative chromosomal anomaly, most often aneuploidy. Deletion of 15q26 is the most frequently described structural chromosomal aberration in patients with non‐isolated CDH. In this paper we report on two patients with a deletion of 15q26 and phenotypes similar to other patients with CDH caused by 15q26 deletions. This phenotype consists of intra‐uterine growth retardation, left‐sided CDH, cardiac anomalies and characteristic facial features, similar to those seen in Fryns syndrome. We propose that when this combination of birth defects is identified, either pre‐ or postnatally, further investigations to confirm or exclude a deletion of 15q26 are indicated, since the diagnosis of this deletion will have major consequences for the prognosis and, therefore, can affect decision making. © 2007 Wiley‐Liss, Inc.

Pulmonary Hypoplasia

10.1002/ajmg.a.31892

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Citations (62)

Amino Acid Metabolism in the Human Fetus at Term: Leucine, Valine, and Methionine Kinetics

Pediatric Research (2011)

Chris H.P. van den Akker Henk Schierbeek Gardi Minderman András Vermes Ernst M. Schoonderwaldt

Alanine

10.1203/pdr.0b013e31823214d1

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Citations (30)

Early prenatal disruption; a foetus with features of severe limb body wall sequence, body stalk anomaly and amniotic bands.

PubMed (2014)

Sandra Ventorin von Zeidler Grétel G. Oudesluijs Ernst M. Schoonderwaldt Yolande van Bever

Disruption in early pregnancy can cause severe and multiple congenital anomalies in a foetus. Three sequences, Limb-body wall complex (LBWC), amniotic band sequence (ABS) and body-stalk anomaly (BSA) are thought to be caused by disruption. This case report describes a foetus with severe multiple congenital anomalies, that fit the diagnoses of all three sequences, which might advocate these syndromes are a spectrum of one sequence.

Amniotic Band

Amniotic Band Syndrome

Anomaly (physics)

Sequence (biology)

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Citations (6)

First-Trimester Detection of Surface Abnormalities: A Comparison of 2- and 3-Dimensional Ultrasound and 3-Dimensional Virtual Reality Ultrasound

Reproductive Sciences (2014)

L. Baken Melek Rousian Anton H. J. Koning Gouke J. Bonsel Alex J. Eggink

3D ultrasound

Gold standard (test)

3d model

Third trimester

10.1177/1933719113519172

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Citations (10)

Reproducibility of echocardiographic measurements of human fetal left ventricular volumes and ejection fractions using four-dimensional ultrasound with the spatio-temporal image correlation modality

European Journal of Obstetrics & Gynecology and Reproductive Biology (2011)

Ernst M. Schoonderwaldt Irene A.L. Groenenberg Wim C.J. Hop J. W. Wladimiroff Eric A.P. Steegers

End-systolic volume

End-diastolic volume

10.1016/j.ejogrb.2011.09.036

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Citations (23)

Biomarkers of the one‐carbon pathway in association with congenital diaphragmatic hernia

Birth Defects Research (2012)

Leonardus W.J.E. Beurskens Róbert de Jonge Ernst M. Schoonderwaldt Dick Tibboel Régine P.M. Steegers‐Theunissen

Abstract Homocysteine is an intermediate of the one‐carbon (1‐C) pathway and increased concentrations have been related to neural crest‐related congenital anomalies. The neural crest and the 1‐C pathway might be involved also in the etiology of Congenital Diaphragmatic Hernia (CDH). In 22 CDH and 28 control newborns and their mothers, general characteristics were obtained by standardized questionnaires. The 1‐C pathway intermediates total homocysteine (tHcy), S‐adenosylmethionine (SAM), and S‐adenosylhomocysteine (SAH) were determined in cord blood. Correlations between maternal and newborn factors and risk estimates were investigated by univariate and multivariable logistic regression analyses. Birth weight (2962 vs. 3418 gram; p < 0.001) was lower and gestational age (270 vs. 277 days; p = 0.006) was shorter in case children. Control mothers were slightly older (32 vs. 35 year; p = 0.05). Other characteristics were comparable between case and control children and mothers. The concentrations of homocysteine, SAM and SAH, and the SAM/SAH ratio were comparable (tHcy: 8.57 vs. 8.56 μmol/l, p = 0.99; SAM: 152.7 vs. 157.3 nmol/l, p = 0.76; SAH: 43.5 vs. 48.9, p = 0.26; ratio: 3.8 vs. 3.5, p = 0.50). Maternal and newborn characteristics were not correlated to the biomarker concentrations. In conclusion, the biomarkers of methylation determined in cord blood are not associated with CDH risk. Maternal and child characteristics could not predict newborn biomarker concentrations of the 1‐C pathway. Birth Defects Research (Part A) 2012. © 2012 Wiley Periodicals, Inc.

Cord blood

Etiology

10.1002/bdra.23039

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Citations (3)

Ultrasound diagnosis of fetal anomalies: an analysis of perinatal management of 318 consecutive pregnancies in a multidisciplinary setting

Prenatal Diagnosis (2004)

Hilmar H. Bijma Ernst M. Schoonderwaldt Agnes van der Heide Hajo I. J. Wildschut Paul J. van der Maas

Abstract Objectives The objectives of this study are to analyse the perinatal management decisions made in a multidisciplinary setting following the prenatal diagnosis of fetal anomalies and to evaluate to what extent, in clinical practice, decisions about obstetric management are attuned to those about neonatal management. Methods Data on perinatal management of 318 consecutive singleton pregnancies presented to a multidisciplinary perinatal team in a tertiary centre were collected retrospectively. Results The multidisciplinary perinatal team decided upon non‐aggressive obstetric management in 20% of the cases and consented to termination of pregnancy in 10% of the cases. The multidisciplinary perinatal team decided upon neonatal management in 112(36%) of all fetuses. In 100(89%) of these fetuses, standard neonatal management, and in 12(11%), no neonatal life‐sustaining treatment was decided upon. Implementation of the decisions of the multidisciplinary perinatal team on the various management modalities ranged from 88 to 100%. Conclusion The multidisciplinary perinatal team worked well in making decisions about obstetric management. In 30% of the cases, this concerned end‐of‐life decisions. However, for the majority of cases, the perinatal team did not plan neonatal management before birth and thereby did not attune obstetric and neonatal management to each other. This probably reflects the different attitudes towards end‐of‐life decisions between obstetricians and neonatologists. However, to ensure a consistent perinatal management, a multidisciplinary perinatal team has to make prenatal decisions about both obstetric and neonatal management. Copyright © 2004 John Wiley & Sons, Ltd.

Multidisciplinary team

10.1002/pd.883

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Citations (22)

In‐utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency

Ultrasound in Obstetrics and Gynecology (2000)

Nicolette S. den Hollander W. J. Kleijer Ernst M. Schoonderwaldt Frans J. Los J. W. Wladimiroff

Abstract Mucopolysaccharidosis type VII was diagnosed prenatally during the first pregnancy of a Turkish consanguineous couple, following diagnostic work‐up of an increased nuchal translucency detected by ultrasound at 13 weeks of gestation. Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare autosomal recessive lysosomal storage disease, caused by the deficiency of the enzyme β‐glucuronidase. The most severe form of MPS VII manifests itself by non‐immune fetal hydrops. Tests for the diagnosis of metabolic disorders, especially lysosomal diseases, are essential when the major causes of hydrops fetalis have been excluded. The presence of a β‐glucosidase deficiency, Gaucher's disease, in the infant of the patient's sister emphasizes the importance of a complete family history in consanguineous couples and the risk for several recessive diseases in some families. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology

Hydrops fetalis

Mucopolysaccharidosis

Lysosomal storage disease

Mucopolysaccharidosis I

Lysosomal Storage Disorders

Mucolipidosis

Mucopolysaccharidosis type I

10.1046/j.1469-0705.2000.00148.x

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Citations (23)

HUMAN FETAL AMINO ACID METABOLISM AT TERM: LEUCINE AND METHIONINE KINETICS

Archives of Disease in Childhood (2008)

Chris H.P. van den Akker Henk Schierbeek Gardi Minderman Ernst M. Schoonderwaldt Johannes J. Duvekot

Background Present postnatal nutritional strategies for premature infants often fail to sustain adequate growth. To improve neonatal nutrition, we should explore normal fetal amino acid (AA) metabolism as this is a largely unknown area. Objective To quantify human fetal leucine (leu) kinetics (incl reversible transamination to its ketoacid αKIC and subsequent oxidation) and methionine (met) kinetics (incl transmethylation to homocysteine (hcys) and subsequent conversion to cysteine). Methods Eight healthy pregnant women undergoing cesarean section at term received continuous stable isotope infusions of [1-13C,15N]leu and [1-13C,methyl-D3]met prior to surgery. Umbilical blood flow was measured using ultrasound. After birth, umbilical blood was collected and analyzed for leu, αKIC, and met enrichments and concentrations using gas-chromatography mass-spectrometry. Results Metabolic rates are shown in the table. Conversion of µmol to protein reveals a net fetal uptake of 4.1±1.6 or 2.5±1.8 g/kg/d and a protein breakdown rate of 10±4 or 8±3 g/kg/d based on leu or met kinetics, respectively. Conclusion Although fetuses were born at term, they still showed considerable AA uptake. The metabolic uptake of available leu and met (AA usage) was low (35 and 22%), implying a large nutritional reserve capacity of placentally delivered nutrients. Whereas mature fetuses show high leu deamination and αKIC reamination, hcys remethylation to met is low.

Transmethylation

Transamination

Megaloblastic anemia

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