Explanipedia

EP21.17: Prenatal diagnosis 22q11.2 deletion syndrome with cross ribbon sign Open

S.T. Vo, D. T. Tran, Tung T. Pham, Umber Agarwal, N. V. Nguyen · 2023

22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion in human with a wide spectrum of clinical features, and a leading cause of congenital conotruncal heart defects and neurodevelopmental delay. Cross ribbon sign is the p…

EP06.17: Prenatal diagnosis of Apert syndrome with temporal lobe abnormalities detected on fetal neurosonography Open

Sautina Vo, Mirko Pham, Song Tang, Hoa Giang, Umber Agarwal , et al. · 2023

Apert syndrome is characterised by craniosynostosis and complex hand and foot syndactyly, and an increased risk of brain, palate, heart, and visceral malformations, and intellectual disability. Here we present a case of Apert syndrome in t…

EP08.17: Prenatal diagnosis a case of double ductus venosus in monochorionic‐diamniotic twins using first trimester ultrasound Open

S.T. Vo, Tingting Cao, Umber Agarwal · 2023

Ductus venosus (DV) anomalies are rare conditions with a variable prognosis that relies partly on the presence of associated conditions. We present the first case of double DV in complicated MCDA twins pregnancy detected on first trimester…

OP16.05: Prenatal diagnosis of Zellweger syndrome: a unique case report suggested by level II ultrasound in first trimester Open

S.T. Vo, Nguyễn Xuân Huy, Shukun Tang, Hoa Giang, Umber Agarwal , et al. · 2023

Zellweger syndrome (ZS), also known as Cerebro-hepato-renal syndrome, is a rare lethal autosomal recessive inherited disorder characterised by the absence/reduction of functional peroxisomes in cells. ZS was reported in association with in…

Long term survival of antenatally diagnosed functionally single ventricle congenital heart disease Open

Joyce Lim, D Sutcliffe, Ansa Sabu, Ram Ramaraj, Umber Agarwal · 2023

Funding Acknowledgements Type of funding sources: None. Background Antenatal diagnosis of single ventricle congenital heart disease (CHD) allows prenatal counselling, better parental preparation and support as well as improved perinatal ma…

Prenatal exome sequencing and impact on perinatal outcome: cohort study Open

Borna Poljak, Umber Agarwal, Žarko Alfirević, Stephanie Allen, Natalie Canham , et al. · 2022

Objectives First, to determine the uptake of prenatal exome sequencing (pES) and the diagnostic yield of pathogenic (causative) variants in a UK tertiary fetal medicine unit following the introduction of the NHS England Rapid Exome Sequenc…

Prospective risk of stillbirth according to fetal size at term Open

Umber Agarwal, Oliver Hugh, Jason Gardosi · 2022

There was an arithmetic error listing 27,000 fewer cases in the denominator of the 3-10 centile band of the SGA analysis.This affected the calculated stillbirth rates and risk ratios within this centile band.

EP24.10: Prenatal diagnosis of hydrops fetalis secondary to lysosomal storage disease Open

S.T. Vo, H.H. Bui, H. Giang, Umber Agarwal · 2022

Galactosialidosis is a lysosomal storage disease caused by mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase. Lysosomal storage diseases account for 30% of monogenic causes of hydrops fetali…

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology Open

Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks , et al. · 2022

Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype‐driven early genetic diagnosis of fetal genetic disease can he…

Prospective risk of stillbirth according to fetal size at term Open

Umber Agarwal, Oliver Hugh, Jason Gardosi · 2022

Objectives Fetal growth and size are associated with stillbirth risk. We wanted to investigate the week by week predictive value of fetal size at term on the prospective risk of stillbirth. Methods Anonymised database from the UK GAP progr…

Robert’s uterus (asymmetric septate uterus): a rare congenital Müllerian duct anomaly Open

Louise Dunphy, Siân Taylor, Elspeth Whitby, Umber Agarwal, Žarko Alfirević · 2022

Müllerian anomalies such as Robert’s uterus, which was first described by the French gynaecologist Dr Helene Robert in 1969, are rare clinical entities and have been reported in <3% of the female population. Robert’s uterus is a rare pheno…

Vein of Galen aneurysmal malformation affecting cotwin in dichorionic diamniotic pregnancy Open

James G. Hackett, Lewis Hall, Mohammad Naqaish Sadiq, M. Putheran, Benjamin Hall , et al. · 2020

Vein of Galen aneurysmal malformation (VGM) is a rare congenital abnormality of the embryonic choroid plexus, accounting for 1% of intracranial vascular malformations1. First described by Raybaud et al.1, the malformation develops during w…

Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy Open

Neha Agarwal, Umber Agarwal, Žarko Alfirević, Joyce Lim, Musa Kaleem , et al. · 2020

Planned early delivery or expectant management for late preterm pre-eclampsia (PHOENIX): a randomised controlled trial Open

Lucy C. Chappell, Peter Brocklehurst, Marcus E. Green, Rachael Hunter, Pollyanna Hardy , et al. · 2019

Antenatal diagnosis of total anomalous pulmonary venous connection in functional single ventricle hearts: Outcomes over 13-year period Open

Precylia Fernandes, Lito Mantagou, Ram Ramaraj, Umber Agarwal, Joyce Lim · 2018

Introduction A functionally single cardiac ventricle seen on foetal ultrasound scan carries a guarded prognosis. The antenatal diagnosis of anomalous pulmonary venous connection (APVC) remains challenging, if there is no associated structu…

Maternal sildenafil for severe fetal growth restriction (STRIDER): a multicentre, randomised, placebo-controlled, double-blind trial Open

Andrew Sharp, Christine Cornforth, Richard Jackson, J.A. Harrold, M. Turner , et al. · 2017

Diagnostic accuracy of individual antenatal tools for prediction of small‐for‐gestational age at birth Open

Borna Poljak, Umber Agarwal, Richard Jackson, Žarko Alfirević, Andrew Sharp · 2016

Objective To determine the accuracy of fetal and newborn growth charts for the prediction of small‐for‐gestational age ( SGA ) at birth (birth weight < 10 th centile). Methods This was a prospective cohort study performed within a UK speci…

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