A5077141365- Prenatal Screening and Diagnostics
- Pregnancy and preeclampsia studies
- Fetal and Pediatric Neurological Disorders
- Congenital Diaphragmatic Hernia Studies
- Parvovirus B19 Infection Studies
- Congenital Anomalies and Fetal Surgery
- Birth, Development, and Health
- Congenital Heart Disease Studies
- Assisted Reproductive Technology and Twin Pregnancy
- Neonatal Respiratory Health Research
- Gestational Diabetes Research and Management
- Ectopic Pregnancy Diagnosis and Management
- Maternal and fetal healthcare
- Renal and related cancers
- Ethics and Legal Issues in Pediatric Healthcare
- Neonatal and fetal brain pathology
- Gestational Trophoblastic Disease Studies
- Ultrasound in Clinical Applications
- Urological Disorders and Treatments
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Cytomegalovirus and herpesvirus research
- Autopsy Techniques and Outcomes
- Cardiovascular Issues in Pregnancy
- Cancer Genomics and Diagnostics
Radboud University Nijmegen
2011-2020
Radboud University Medical Center
2011-2020
University Medical Center
2008-2017
University Medical Center Utrecht
2015-2017
Wilhelmina Children's Hospital
2017
Utrecht University
2017
Leiden University Medical Center
2006-2015
University Hospital and Clinics
2008-2015
Maastricht University
1987-2015
OLVG
2015
To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated amniocentesis or chorionic villus sampling.Diagnostic accuracy validated against full karyotyping, using prospectively collected archived samples.Prenatal diagnostic units in Hong Kong, United Kingdom, Netherlands.753 pregnant women at who underwent definitive diagnosis by whom 86 had a fetus with 21....
Massively parallel sequencing of DNA molecules in the plasma pregnant women has been shown to allow accurate and noninvasive prenatal detection fetal trisomy 21. However, whether approach is as for diagnosis 13 18 unclear due lack data from a large sample set. We studied 392 pregnancies, among which 25 involved fetus 37 fetus, by massively sequencing. By using our previously reported standard z-score approach, we demonstrated that this could identify 36.0% 73.0% at specificities 92.4% 97.2%,...
Noninvasive prenatal testing using fetal DNA in maternal plasma is an actively researched area. The current generation of tests massively parallel sequencing based on counting sequences originating from different genomic regions. In this study, we explored a approach that the use fragment size as diagnostic parameter. This dependent fact circulating molecules are generally shorter than corresponding molecules. First, performed analysis paired-end and microchip-based capillary...
To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic in pregnancies with abnormal ultrasound findings.This was a retrospective analysis 251 singleton and multiple at high risk for fetal chromosomal abnormality based on findings sonographic examination, which NIPT performed first-tier genetic test. by massively parallel sequencing cell-free DNA maternal plasma, allowing genome-wide detection whole-chromosome, well partial, autosomal...
Transvaginal echocardiography is still rarely incorporated into the first-trimester ultrasound examination, despite fact that heart defects are most frequently encountered congenital malformation. This study was undertaken to explore possibilities of fetal in late first trimester.In 85 women with uncomplicated singleton pregnancies, three transvaginal examinations between 11+0 and 13+6 weeks' gestation were performed. The carried out at weekly intervals visualization several...
Objectives Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal tests congenital defects are not offered routinely. The present study aims to assess test uptake a large, unselected population of pregnant women, and give more insight into decision or against through nuchal translucency measurement maternal serum screening. Patients Methods is part randomized controlled trial with two groups, each being different...
This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening diagnostic test characteristics.A discrete choice experiment was developed to assess for tests that differed in seven attributes: minimal gestational age, time results, level of information, detection rate, false positive miscarriage risk costs.The questionnaire completed by 596 (70.2%) women 297 (51.7%) professionals, whom 507 (85.1%) 283 (95.3%), respectively, were included...
setting where TMS is used for several assays, as the case in other laboratories (6 ), it makes economic sense to consolidate one platform that can perform multiple assays without operator intervention.We have extended this method include measurements of acetyl carnitine (data not shown).In case, a mixture labeled carnitines are added plasma, and concentrations calculated from calibration curves free, acetyl, total carnitine.The measurement free carnitine, specific acylcarnitines by prior...
The aim of this study was to explore the diagnostic accuracy first-trimester transvaginal echocardiography in fetuses with increased nuchal translucency (NT) thickness, by comparing ultrasound diagnosis findings on postmortem examination or mid-gestational and neonatal outcome.Transvaginal performed 45 a NT > 95th centile. Karyotyping 43. In 20 23 pregnancies which termination pregnancy carried out, determine presence type heart defect. Mid-gestational ongoing follow-up information obtained....
To investigate the feasibility of incorporating spatiotemporal image correlation (STIC) into a tertiary fetal echocardiography program.During study period all pregnant women fitting our inclusion criteria were enrolled consecutively. Four sonographers participated in study, one whom had substantial previous experience STIC volume acquisition and three did not. volumes acquired within time slot allocated for usual examination attempts recorded. assessed on conditions, quality (as defined by...
Abstract Objectives The goal of this study was to use spatiotemporal image correlation (STIC) provide reference values for left and right ventricle volumes, indices fetal cardiac function. Methods In prospective longitudinal study, STIC volumes were acquired periodically from 12 weeks gestation onwards. frozen in end‐systole end‐diastole, volumetric data measured by manual tracing summation multiple slices. These used calculate stroke volume, ejection fraction output. Results Some 202 63...
Abstract Objective To investigate whether pregnancies with small for gestational age (SGA) neonates, defined as customized birth weight below the 10th centile, are associated altered levels of metastin in maternal plasma first trimester. Study Design Maternal blood was obtained between 8 and 14 weeks pregnancy. Levels were measured ( n = 31) or without SGA‐neonates 31), matched at venipuncture. Measurement β‐hCG included to study influence placental volume on markers. Results Metastin...
To evaluate the clinical accuracy of four-dimensional (4D) echocardiography in detailed prenatal diagnosis congenital heart disease (CHD) a telemedicine setting.Ten second-trimester spatiotemporal image correlation (STIC) volumes were sent to three observers different tertiary care centers with expertise 4D echocardiography. The 10 selected based on type cover wide spectrum CHD anomalies, and also included one normal fetal heart. Observers asked provide diagnosis, postprocessing modalities...
What are the pregnancy outcomes for women with a twin that is reduced to singleton pregnancy?Fetal reduction of significantly improves gestational age at birth and neonatal birthweight, however an increased risk loss preterm delivery.Women multiple delivery. Fetal can be considered in these women.Retrospective cohort study 118 between 2000 2010.We compared outcome consecutive dichorionic was managed expectantly primary pregnancy. Reductions were performed 10-23(6/7) weeks' gestation by...
Abstract We investigated the development of skeleton in embryonic and early fetal period both with ultrasonography radiology. Eight normal embryos/fetuses were studied weekly real‐time transvaginal sonography between 8 16 weeks gestation to establish ultrasonographic characteristics ossification. Additionally, ossification was radiographs obtained from five 9 14 gestation. Ossification centers, visualized as increased echogenicity bones, recognized onwards. The appearance primary centers...
The aim of this study was to evaluate pregnancy outcome and early childhood chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks' gestation. A total 63 a first-trimester thickness 3 mm or more were evaluated. In ongoing pregnancies, follow-up scans performed detect exclude additional structural anomalies in the fetus. Follow-up live-born children by questionnaires sent parents reviews medical records. 11 fetuses, diagnosed scans; group there five terminations...
Embryological development was investigated by ultrasonography in a longitudinal study of 18 normal pregnancies. The appearance midgut herniation studied and if present, its circumference valued. In addition, patients with an elevated risk for anomalies were scanned between 10 16 weeks gestation. 17 fetuses, the diagnosis omphalocele made 11 weeks. ratio abdomen calculated contents evaluated. Eight fetuses had abnormal karyotype mean omphalocele/abdomen 0.38 (SD 0.191), whereas eight euploid...