P. N. Adama van Scheltema
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View article: Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study
Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study Open
Objective To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comp…
View article: Intracerebral hemorrhage in a neonate with an intragenic <scp><i>COL4A2</i></scp> duplication
Intracerebral hemorrhage in a neonate with an intragenic <span><i>COL4A2</i></span> duplication Open
Intracerebral hemorrhage is rare in term born neonates. Besides several non‐genetic risk factors, pathogenic variants in COL4A1 and COL4A2 have been described to play a role in the pathophysiology of neonatal intracerebral hemorrhage. To t…
View article: Prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO)—Development and internal validation
Prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO)—Development and internal validation Open
Objective To develop a prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO) based on fetal ultrasound parameters and amniotic fluid volume. Methods Retrospective nationwide cohort study of fet…
View article: From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care Open
View article: Fetal megacystis: a lot more than LUTO
Fetal megacystis: a lot more than LUTO Open
Objective Fetal megacystis presents a challenge in terms of counseling and management because of its varied etiology and evolution. The aim of this study was to present a comprehensive overview of the underlying etiologies and structural a…
View article: Antenatal staging of congenital lower urinary tract obstruction
Antenatal staging of congenital lower urinary tract obstruction Open
Objective To propose a staging system for congenital lower urinary tract obstruction (LUTO) capable of predicting the severity of the condition and its prognosis. Methods This was a national retrospective study carried out at the eight Aca…
View article: Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy
Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy Open
Objective: To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment because of complex megacystis, high chance of spontaneou…
View article: Prenatal diagnosis of LUTO: improving diagnostic accuracy
Prenatal diagnosis of LUTO: improving diagnostic accuracy Open
Objective To propose a clinical score for the optimal antenatal diagnosis of fetal lower urinary tract obstruction (LUTO) in the second and third trimesters of pregnancy, as an alternative to the commonly used ultrasound triad of megacysti…
View article: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance Open
Recently, Desai et al. described six subjects with deletions in the ATAD3 gene cluster ( Desai et al. 2017 ). Most of these patients died within their first week of life and one died after 7 months, but one was still alive at 30 years of a…
View article: Fetal megacystis: prediction of spontaneous resolution and outcome
Fetal megacystis: prediction of spontaneous resolution and outcome Open
Objectives To investigate the natural history of fetal megacystis from diagnosis in utero to postnatal outcome, and to identify prognostic indicators of spontaneous resolution and postnatal outcome after resolution. Methods This was a nati…
View article: Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (<scp>GPI</scp>) using repeated intrauterine transfusions: a case report
Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (<span>GPI</span>) using repeated intrauterine transfusions: a case report Open
Key Clinical Message Hemolytic anemia due to GPI deficiency can be severe and life threatening during fetal life. When parents decline invasive testing, ultrasound monitoring of fetuses at risk is feasible. Intrauterine transfusion can be …