A5065198877- Prenatal Screening and Diagnostics
- Congenital Anomalies and Fetal Surgery
- Pregnancy and preeclampsia studies
- Fetal and Pediatric Neurological Disorders
- Parvovirus B19 Infection Studies
- Assisted Reproductive Technology and Twin Pregnancy
- Genomic variations and chromosomal abnormalities
- Renal and related cancers
- Ectopic Pregnancy Diagnosis and Management
- Gestational Diabetes Research and Management
- Genomics and Chromatin Dynamics
- Birth, Development, and Health
- Maternal and fetal healthcare
- Congenital Diaphragmatic Hernia Studies
- Urological Disorders and Treatments
- Congenital Heart Disease Studies
- Chromosomal and Genetic Variations
- Cleft Lip and Palate Research
- Cardiovascular Function and Risk Factors
- Bone fractures and treatments
- Cerebrovascular and Carotid Artery Diseases
- Hip disorders and treatments
- Ovarian function and disorders
- Cardiovascular Issues in Pregnancy
- Neurological Disease Mechanisms and Treatments
Amedes Genetics (Germany)
2024
Zentrum für Pränataldiagnostik
2011-2023
Genetikum
2004-2022
Heinrich Heine University Düsseldorf
1981-2022
Fraunhofer Institute for Physical Measurement Techniques
2019
Praxis
2011
University of Bonn
2009
Center for Special Minimally Invasive and Robotic Surgery
2009
New York University Langone Orthopedic Hospital
2008
Kiel University
2001
First-trimester screening between 11 + 0 and 13 6 weeks with qualified prenatal counseling, detailed ultrasound, biochemical markers maternal factors has become the basis for decisions about further examinations. It detects numerous structural genetic anomalies. The inclusion of uterine artery Doppler PlGF screens preeclampsia fetal growth restriction. Low-dose aspirin significantly reduces prevalence severe preterm eclampsia. Cut-off values define groups high, intermediate low probability....
Abstract Objective To examine the effectiveness of screening for trisomy 21 by a combination maternal age and fetal nuchal translucency thickness at 10–14 weeks gestation in Germany, Austria Switzerland. Methods This was multicenter study gestation. All sonographers involved had received The Fetal Medicine Foundation Certificate Competence 10–14‐week scan. crown–rump length were measured 23 805 singleton pregnancies with live fetuses. In each case risk estimated on basis use Foundation's...
The aim of this article is to study secondary cranial signs in fetuses with spina bifida a precisely defined screening period between 18 + 0 and 22 weeks gestation.On the basis retrospective analysis 627 bifida, value indirect cerebral markers was assessed by well-trained ultrasonographers 13 different prenatal centres accordance ISUOG (International Society Ultrasound Obstetrics Gynecology) guidelines on fetal neurosonography.Open diagnosed 98.9% cases whereas 1.1% closed bifida. Associated...
The incidence of a fetal single umbilical artery (SUA) is about 0.5 % and has been associated with an increased risk congenital malformations, aneuploidy intrauterine growth restriction (IUGR). A retrospective analysis 1169 women singleton pregnancies diagnosed SUA between 1997 2014 in specialized practice for prenatal diagnostics performed. Data was obtained on maternal findings as well pregnancy outcome. 989 (84.6 %) fetuses showed isolated (iSUA) while 180 (15.4 presented additional...
This extensive AWMF 085-002 S2e-guideline “First Trimester Diagnosis and Therapy @ 11–13+6 Weeks of Gestation” has systematically analyzed high-quality studies publications the existing evidence (evidence tables) produced recommendations (level recommendation, level evidence, strength consensus). guideline deals with following topics in context weeks scan: legal basis, screening for anatomical malformations, chromosomal defects, quality assessment audit, preeclampsia FGR, preterm birth,...
Abstract Objective To evaluate the intrauterine course and outcome of tricuspid atresia detected in fetus. Methods This was a retrospective review all confirmed cases prenatally between 1998 2006 three tertiary referral centers Germany. Results Fifty‐four were during study period postnatally: 28 (51.9%) had concordant ventriculoarterial connection which 14 also pulmonary outflow obstruction; 25 (46.3%) discordant aortic obstruction, six tract obstruction two other associated intracardiac...
Precise breakpoint definition of chromosomal rearrangements using conventional banding techniques often fails, especially when more than two breakpoints are involved. The classic procedure results in a pattern alternating light and dark bands. Hence, banded chromosomes specific band is rather identified by the surrounding its own morphology. In original altered therefore unequivocal determination not obvious. multicolor technique (mBAND, see Chudoba et al., 1999) able to identify...
This extensive AWMF 085-002 S2e-guideline “First Trimester Diagnosis and Therapy @ 11–13+6 Weeks of Gestation” has systematically analyzed high-quality studies publications the existing evidence (evidence tables) produced recommendations (level recommendation, level evidence, strength consensus). guideline deals with following topics in context weeks scan: legal basis, screening for anatomical malformations, chromosomal defects, quality assessment audit, preeclampsia FGR, preterm birth,...
Some drugs are known for their fetal nephrotoxicity and should be avoided during pregnancy. We report on a pregnant woman suffering from breast cancer who received weekly neoadjuvant trastuzumab (Herceptin(®)) therapy 15 weeks of gestation onward, in addition to 3-weekly carboplatin/docetaxel chemotherapy. Fetal renal insufficiency with anhydramnios missing visualization the bladder developed at 21 weeks. After discontinuation repeated instillation amniotic fluid, amount fluid remained...
<b>Purpose:</b> To examine combined first trimester screening (FTS), noninvasive prenatal testing (NIPT) and a two-step policy that combines FTS NIPT in for aneuploidy. <b>Materials Methods:</b> Retrospective study involving 21 052 pregnancies where was performed at the Praxis Praenatal.de Duesseldorf, Germany. In each case, sum risk of trisomy 21, 18 13 computed. We assumed detects 99 %, 98 90 % cases with 18, sex chromosomal abnormalities false-positive rate is 0.5 %. The following...
Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not Turner syndrome (TS). Our aim was assess the incidence of omphalocele in fetuses TS, phenotype this association other anomalies, their karyotype, fetal outcomes.Retrospective multicenter study confirmed diagnosis TS. Data were extracted from a detailed questionnaire sent specialists prenatal ultrasound.680 TS included analysis. Incidence small diagnosed ≥12 weeks 3.1%....
The aim of this study was to evaluate the impact maternal risk factors on excess fetal loss related amniocentesis.We compared outcome and details for in 20,460 patients undergoing amniocenteses between April 1997 March 2005 11,017 controls given ultrasound during same period our tertiary level prenatal unit. were recorded before procedure. Spontaneous defined as spontaneous miscarriage intrauterine demise at any gestational age.The rate attributed amniocentesis procedure averaged 0.49 % (CI:...
To compare the detection rate for trisomy 21 of universal cell free DNA (cfDNA) screening with contingent screening.Retrospective study at 3 German centers. The included euploid and pregnancies where cfDNA first trimester (FT) assessment was carried out. FT risk computed based on combined stratified into following classes: high >1:10, intermediate 1:11 - 2,500, low <1:2,500. For screening, test results were examined. model, result taken account in case an risk. Different strategies combining...
Ziel: Ursachenverteilung und Befunde bei transfusionspflichtigen fetalen Anämien unter Berücksichtigung seltener Erkrankungen. Material Methoden: Retrospektive Auswertung der intrauterinen Erythrozytentransfusionen an zwei Zentren für Pränatale Medizin in 9 Jahren (2002 – 2010). Ergebnisse: Bei 82 Feten wurden 356 intrauterine durchgeführt. Die Ursache fetaler unserem Kollektiv waren immunologischer Genese (32), Parvovirus Infektionen (23), feto-fetales Transfusionssyndrom (9),...
Abstract Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA represent a rare and interesting class of rearranged chromosomes. These SMCs are predicted to have neocentromere been referred as neocentric (NMCs). We report the molecular cytogenetic characterization two new cases neocentromere‐containing chromosomes, one on 1q43∼44 15q26. Both were examined using fluorescence in situ hybridization (FISH) with various alpha‐satellite probes, no was detected. In case 1, NMC...