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Lista de obras de Lyn S Chitty

"The communication and support from the health professional is incredibly important": A qualitative study exploring the processes and practices that support parental decision-making about postmortem examination

scientific article published on 04 November 2019

"We might get a lot more families who will agree": Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy

artículo científico publicado en 2018

'Hope for safe prenatal gene tests'. A content analysis of how the UK press media are reporting advances in non-invasive prenatal testing

artículo científico publicado en 2014

A case of atelosteogenesis

artículo científico publicado en 1990

A case-control study of maternal periconceptual and pregnancy recreational drug use and fetal malformation using hair analysis

artículo científico publicado en 2014

A comparison of Australian and UK obstetricians' and midwives' preferences for screening tests for Down syndrome.

artículo científico publicado en 2006

A distinctive overgrowth syndrome with polysyndactyly

artículo científico publicado en 1996

A new syndrome comprising vertebral anomalies and multicystic kidneys

artículo científico publicado en 1999

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation

artículo científico publicado en 2014

A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy

artículo científico publicado en 2016

A semi-automated method for non-invasive internal organ weight estimation by post-mortem magnetic resonance imaging in fetuses, newborns and children

artículo científico publicado en 2008

A sonographic approach to the prenatal diagnosis of skeletal dysplasias

artículo científico publicado en 2019

Abnormal folate metabolism in foetuses affected by neural tube defects

artículo científico publicado en 2007

Acceptability of a minimally invasive perinatal/paediatric autopsy: healthcare professionals' views and implications for practice.

artículo científico publicado en 2013

Accuracy of antenatal fetal ultrasound in the diagnosis of duplex kidneys

scientific article published on 01 April 2003

Advances in the prenatal diagnosis of monogenic disorders

artículo científico publicado en 2018

An apparently new syndrome of bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay.

artículo científico publicado en 1993

An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family

artículo científico publicado en 1998

An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders

artículo científico publicado en 2014

Anomalies of the fetal thorax and abdomen: diagnosis, management and outcome

scientific article published on 01 July 2008

Antenatal screening for aneuploidy.

artículo científico publicado en 1998

Association of isolated short femur in the mid-trimester fetus with perinatal outcome

artículo científico publicado en 2008

Authors' reply: Noninvasive prenatal testing for trisomy 21: when counselling is needed before responding to a survey

artículo científico publicado en 2014

Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed-methods study with bereaved parents

scientific article published on 06 February 2019

Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing.

artículo científico publicado en 2018

Body weight lower limits of fetal postmortem MRI at 1.5 T.

artículo científico publicado en 2015

Brachmann–de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis ⬇️

artículo científico publicado el 1 de septiembre de 2010

Cell-Free DNA in Pediatric Solid Organ Transplantation Using a New Detection Method of Separating Donor-Derived from Recipient Cell-Free DNA

artículo científico publicado en 2020

Cell-Free Fetal DNA Testing for Prenatal Diagnosis

artículo científico publicado en 2016

Cell-free DNA testing: an aid to prenatal sonographic diagnosis

artículo científico

Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing

scientific article published on 06 July 2009

Cell-free fetal DNA and non-invasive prenatal diagnosis

artículo científico publicado en 2009

Charts of fetal size: 1. Methodology.

artículo científico publicado en 1994

Charts of fetal size: 2. Head measurements

artículo científico publicado en 1994

Charts of fetal size: 3. Abdominal measurements.

artículo científico publicado en 1994

Charts of fetal size: 4. Femur length

artículo científico publicado en 1994

Charts of fetal size: kidney and renal pelvis measurements

artículo científico publicado en 2003

Charts of fetal size: limb bones

artículo científico publicado en 2002

Chondrodysplasia punctata: a clinical diagnostic and radiological review

scientific article published on October 2008

Choroid plexus cysts: the need for further study

scientific article published on 01 November 1994

Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis

artículo científico publicado en 2014

Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy

artículo científico publicado en 2017

Comparison of diagnostic performance for perinatal and paediatric post-mortem imaging: CT versus MRI.

artículo científico publicado en 2015

Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization

artículo científico publicado en 2013

Congenital cystic adenomatoid malformations may not require surgical intervention.

artículo científico publicado en 2006

Congenital malformations

artículo científico publicado en 1990

Congenital microgastria: a rare cause of failure to visualise the fetal stomach

artículo científico publicado en 2011

Continuing with pregnancy after a diagnosis of lethal abnormality: experience of five couples and recommendations for management.

artículo científico publicado en 1996

Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing; a mixed-methods systematic review

artículo científico publicado en 2020

Current Controversies in Prenatal Diagnosis 2: Cell free DNA prenatal screening should be used to identify all chromosome abnormalities

artículo científico publicado en 2018

Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing

artículo científico publicado en 2020

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

artículo científico publicado en 2015

Cystic lung lesions - prenatal diagnosis and management

artículo científico publicado en 2008

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges

scientific article published on 19 June 2020

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

artículo científico publicado en 2019

Determination of foetal sex in pregnancies at risk of haemophilia: a qualitative study exploring the clinical practices and attitudes of health professionals in the United Kingdom.

artículo científico publicado en 2011

Developing noninvasive diagnosis for single-gene disorders: the role of digital PCR.

artículo científico publicado en 2014

Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study

artículo científico publicado en 2017

Development and mixed-methods evaluation of an online animation for young people about genome sequencing

scientific article published on 02 January 2020

Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy

artículo científico publicado en 2015

Development of a measure of genome sequencing knowledge for young people: The kids-KOGS

artículo científico publicado en 2019

Development of the Knowledge of Genome Sequencing (KOGS) questionnaire

scientific article published on 11 July 2018

Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound

artículo científico publicado en 2007

Diagnostic accuracy and limitations of post-mortem MRI for neurological abnormalities in fetuses and children

artículo científico publicado en 2015

Diagnostic accuracy of post mortem MRI for abdominal abnormalities in foetuses and children

artículo científico publicado en 2014

Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children

artículo científico publicado en 2014

Diagnostic accuracy of post-mortem magnetic resonance imaging in fetuses, children and adults: a systematic review

artículo científico publicado en 2009

Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and children

artículo científico publicado en 2014

Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study

artículo científico publicado en 2014

Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia

artículo científico publicado en 2012

Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

artículo científico publicado en 1991

Dysplastic kidneys

artículo científico publicado en 2007

Early prenatal diagnosis of skeletal anomalies

artículo científico publicado en 2011

Edematous polydactyly in Smith-Lemli-Opitz syndrome Type II.

artículo científico publicado en 2004

Editorial January issue 2021 A new decade, fond farewells and a new era for Prenatal Diagnosis

artículo científico publicado en 2020

Emerging Considerations for Noninvasive Prenatal Testing.

artículo científico publicado en 2017

Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme

scientific article published on 12 March 2019

Esophageal and duodenal atresia in a fetus with Down's syndrome: prenatal sonographic features

artículo científico publicado en 1996

Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic h

Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis

artículo científico publicado en 2012

Evaluation of allelic expression of imprinted genes in adult human blood.

artículo científico publicado en 2010

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

artículo científico publicado en 2014

Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.

artículo científico publicado en 2016

Excess methionine suppresses the methylation cycle and inhibits neural tube closure in mouse embryos

artículo científico publicado en 2006

Executive summary

artículo científico publicado en 2003

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

artículo científico publicado en 2015

Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review

artículo científico publicado en 2018

Factors affecting uptake of postmortem examination in the prenatal, perinatal and paediatric setting.

artículo científico publicado en 2017

Fetal Size and Dating: Charts Recommended for Clinical Obstetric Practice

article by Pam Loughna et al published August 2009 in Ultrasound : journal of the British Medical Ultrasound Society

Fetal cardiac anomalies and genetic syndromes

artículo científico publicado en 2004

Fetal forearm anomalies: prenatal diagnosis, associations and management strategy

artículo científico

Fetal genital anomalies: an aid to diagnosis

artículo científico publicado en 2008

Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study

artículo científico publicado en 2006

Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery

artículo científico publicado en 2012

Fetal therapy: progress made and lessons learnt

artículo científico publicado en 2011

First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS)

artículo científico publicado en 2003

First trimester screening - new directions for antenatal care?

scientific article published on 01 January 2011

Foetal brain imaging: ultrasound or MRI. A comparison between magnetic resonance imaging and a dedicated multidisciplinary neurosonographic opinion

artículo científico publicado en 2008

Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?

artículo científico publicado en 2017

Health professionals' and coroners' views on less invasive perinatal and paediatric autopsy: a qualitative study

artículo científico publicado en 2018

Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.

artículo científico publicado en 1996

Identification of new biomarkers for Down's syndrome in maternal plasma

artículo científico publicado en 2012

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders

artículo científico publicado en 2016

Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom

scholarly article by Melissa Hill published in April 2012

Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield

artículo científico publicado en 2011

In Case You Missed It: The Prenatal Diagnosis Editors Bring You the Most Significant Advances Of 2017.

artículo científico publicado en 2018

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2019

artículo científico publicado en 2020

In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018

artículo científico publicado en 2019

In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2016.

artículo científico publicado en 2017

In case you missed it: thePrenatal Diagnosiseditors bring you the most significant advances of 2014

artículo científico publicado en 2015

In case you missed it: thePrenatal Diagnosiseditors bring you the most significant advances of 2015

artículo científico publicado en 2016

In case you missed it: thePrenatal Diagnosissection editors bring you the most significant advances of 2013

artículo científico publicado en 2014

Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England

article

Informed choice in prenatal testing: a survey among obstetricians and gynaecologists in Europe and Asia

article

Informed choice to undergo prenatal screening for thalassemia: a description of written information given to pregnant women in Europe and beyond

Inositol for prevention of neural tube defects: a pilot randomised controlled trial - CORRIGENDUM

artículo científico publicado en 2016

Inositol for the prevention of neural tube defects: a pilot randomised controlled trial

artículo científico publicado en 2016

Integrity of the methylation cycle is essential for mammalian neural tube closure.

artículo científico publicado en 2006

Intra-amniotic inflammation in human gastroschisis: possible aetiology of postnatal bowel dysfunction

artículo científico publicado en 1998

Is informed choice in prenatal testing universally valued? A population-based survey in Europe and Asia.

artículo científico publicado en 2009

Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI?

scientific article published on 15 April 2019

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

artículo científico publicado en 2015

Lung aeration on post-mortem magnetic resonance imaging is a useful marker of live birth versus stillbirth

artículo científico publicado en 2014

Measurement of the fetal mandible—feasibility and construction of a centile chart

artículo científico publicado en 1993

Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?

artículo científico

Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study

artículo científico publicado en 2019

Minimally invasive fetal postmortem examination using magnetic resonance imaging and computerised tomography: current evidence and practical issues.

artículo científico publicado en 2010

Minimally invasive perinatal and pediatric autopsy with laparoscopically assisted tissue sampling: feasibility and experience of the MinImAL procedure

artículo científico publicado en 2019

Minimally invasive perinatal autopsies using magnetic resonance imaging and endoscopic postmortem examination (“keyhole autopsy”): feasibility and initial experience

artículo científico publicado en 2011

Missed diagnoses of abnormal copy number variant cases: A national epidemic or an endemic at a single institution?

artículo científico publicado en 2018

Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service

artículo científico publicado en 2014

Molecular prenatal diagnosis: the impact of modern technologies.

artículo científico publicado en 2010

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis

artículo científico publicado en 2023

Multiplex ligation-dependent probe amplification (MLPA): a reliable alternative for fetal chromosome analysis?

artículo científico publicado en 2011

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

artículo científico publicado en 2016

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

artículo científico publicado en 2011

New charts for ultrasound dating of pregnancy.

artículo científico publicado en 1997

Next generation sequencing and the next generation: how genomics is revolutionizing reproduction

artículo científico publicado en 2015

Next-generation sequencing and the impact on prenatal diagnosis

scientific article published on 18 July 2018

Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views

artículo científico publicado en 2015

Non-invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound

artículo científico publicado en 2006

Non-invasive fetal sex determination: impact on clinical practice

artículo científico publicado en 2008

Non-invasive prenatal determination of fetal sex: translating research into clinical practice

artículo científico publicado en 2010

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.

artículo científico publicado en 2016

Non-invasive prenatal diagnosis and determination of fetal Rh status

artículo científico publicado en 2008

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

artículo científico publicado en 2015

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective

artículo científico publicado en 2012

Non-invasive prenatal diagnosis for single gene disorders: experience of patients

article

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

artículo científico publicado en 2015

Non-invasive prenatal diagnosis: Implications for antenatal diagnosis and the management of high-risk pregnancies

artículo científico publicado en 2008

Non-invasive prenatal diagnosis: progress and potential

artículo científico

Non-invasive prenatal testing for Down syndrome

artículo científico publicado en 2013

Non-invasive prenatal testing for Down's syndrome: pregnant women's views and likely uptake

artículo científico publicado en 2013

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

artículo científico publicado en 2015

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

article

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations

Non-invasive prenatal testing for aneuploidy, copy number variants and single gene disorders

scientific article published on 01 March 2020

Non-invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers

artículo científico

Non-invasive prenatal testing for single gene disorders: exploring the ethics

artículo científico publicado en 2012

Non-invasive prenatal testing for trisomy 21: a cross-sectional survey of service users' views and likely uptake.

artículo científico publicado en 2014

Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening.

artículo científico publicado en 2017

Non-visualisations of the fetal bladder: aetiology and management.

artículo científico publicado en 2001

Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications

scientific article published on 24 September 2019

Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier

scientific article published on 16 December 2019

Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA

artículo científico

Noninvasive prenatal diagnosis: current practice and future perspectives

artículo científico publicado en 2008

Noninvasive prenatal testing for aneuploidy–ready for prime time?

artículo científico publicado en 2012

Noninvasive prenatal testing: the paradigm is shifting rapidly

artículo científico publicado en 2013

Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?

artículo científico publicado en 2017

Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected].

artículo científico publicado en 2013

Offering prenatal diagnostic tests: European guidelines for clinical practice.

artículo científico publicado en 2014

Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study

artículo científico publicado en 2018

PEHO or PEHO-like syndrome?

artículo científico publicado en 1996

Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study

artículo científico publicado en 2020

Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study

artículo científico publicado en 2022

Perinatal renal disease

artículo científico publicado en 2007

Perlman syndrome—a cause of enlarged, hyperechogenic kidneys

artículo científico publicado en 1998

Pitfalls in counselling: the craniosynostoses

artículo científico publicado en 1991

Post mortem magnetic resonance imaging in the fetus, infant and child: a comparative study with conventional autopsy (MaRIAS Protocol).

artículo científico publicado en 2011

Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study

artículo científico publicado en 2013

Post-mortem apparent resolution of fetal ventriculomegaly: evidence from magnetic resonance imaging

artículo científico

Post-mortem examination of human fetuses: a comparison of whole-body high-field MRI at 9.4 T with conventional MRI and invasive autopsy.

artículo científico publicado en 2009

Postmortem Examination of Human Fetuses: A Comparison of Whole-Body High-Field MRI at 9.4 Tesla With Conventional MRI and Invasive Autopsy

Postmortem cardiovascular magnetic resonance imaging in fetuses and children: a masked comparison study with conventional autopsy

artículo científico

Postmortem magnetic resonance appearances of congenital high airway obstruction syndrome

artículo científico publicado en 2014

Practical issues drawn from the implementation of the integrated test for Down syndrome screening into routine clinical practice

artículo científico publicado en 2007

Preferences for Prenatal Tests for Cystic Fibrosis: A Discrete Choice Experiment to Compare the Views of Adult Patients, Carriers of Cystic Fibrosis and Health Professionals

artículo científico publicado en 2014

Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers.

artículo científico publicado en 2017

Preferences for prenatal testing among pregnant women, partners and health professionals

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

artículo científico publicado en 2015

Prenatal Diagnosis of Cystic Lung Lesions

Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.

artículo científico publicado en 1999

Prenatal diagnosis and management strategies in a family with a rare type of congenital ichthyosis

artículo científico publicado en 2007

Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses

article by Wing Cheong Leung et al published 2004 in Prenatal Diagnosis

Prenatal diagnosis of cloacal anomalies

artículo científico publicado en 2002

Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome

scientific article published on 01 November 2011

Prenatal diagnosis of fetal abnormality: psychological effects on women in low-risk pregnancies

Prenatal evaluation of fetal neck masses in preparation for the EXIT procedure: the value of pulmonary Doppler ultrasonography (PDU)

artículo científico publicado en 2001

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

article by Jenny Lord et al published 23 February 2019 in The Lancet

Prenatal finding of a fetus with mosaicism for two balanced de novo chromosome rearrangements.

artículo científico publicado en 1999

Prenatal gender determination and the diagnosis of genital anomalies.

artículo científico publicado en 2004

Prenatal management of disorders of sex development

artículo científico publicado en 2012

Prenatal screening for Down syndrome

artículo científico publicado en 1998

Prenatal sonographic diagnosis of Malpuech syndrome

artículo científico publicado en 2006

Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II.

artículo científico publicado en 1994

Promises, pitfalls and practicalities of prenatal whole exome sequencing

artículo científico publicado en 2017

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy

artículo científico publicado en 2014

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

artículo científico publicado en 2018

Realising the promise of non-invasive prenatal testing

scientific article published in the British Medical Journal

Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

artículo científico publicado en 2017

Recreational drugs and fetal gastroschisis: maternal hair analysis in the peri-conceptional period and during pregnancy

article

Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy.

artículo científico publicado en 2005

Right or wrong? Looking Through the Retrospectoscope to Analyse predictions made a decade ago in Prenatal Diagnosis and Fetal Surgery

artículo científico publicado en 2020

Routine testing of fetal Rhesus D status in Rhesus D negative women using cell-free fetal DNA: an investigation into the preferences and information needs of women

artículo científico publicado en 2013

SAFE--the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements

scientific article published on February 2008

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.

artículo científico publicado en 2013

Service users and care providers' experiences of tertiary combined fetal medicine clinics

artículo científico publicado en 2012

Sex selection: triumph or tyranny?

Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops

artículo científico publicado en 1999

Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies

artículo científico publicado en 2006

Spina bifida

artículo científico publicado en 2015

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

artículo científico publicado en 2016

Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta

scientific article published on 27 March 2019

Syndromic associations with congenital anomalies of the fetal thorax and abdomen

artículo científico publicado en 2008

Techniques in current use in prenatal diagnosis.

artículo científico publicado en 1994

The 100 000 Genomes Project: What it means for paediatrics

The 2010 Malcolm Ferguson-Smith Young Investigator Award.

artículo científico publicado en 2011

The 2012 Malcolm Ferguson-Smith Young Investigator Award

artículo científico publicado en 2013

The 2013 Malcolm Ferguson-Smith Young Investigator Award

artículo científico publicado en 2014

The 2014 Malcolm Ferguson-Smith Young Investigator Award.

artículo científico publicado en 2015

The 2015 Malcolm Ferguson-Smith Young Investigator Award

artículo científico publicado en 2016

The 2017 Malcolm Ferguson-Smith Young Investigator Award

artículo científico publicado en 2018

The 2018 Malcolm Ferguson-Smith Young Investigator Award

artículo científico publicado en 2019

The 2019 Malcolm Ferguson-Smith Young Investigator Award

artículo científico publicado en 2020

The Welsh study of mothers and babies: protocol for a population-based cohort study to investigate the clinical significance of defined ultrasound findings of uncertain significance

artículo científico publicado en 2014

The challenge of imaging the fetal central nervous system: an aid to prenatal diagnosis, management and prognosis

article

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

artículo científico

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

artículo científico publicado en 2013

The development of a peptide SRM-based tandem mass spectrometry assay for prenatal screening of Down syndrome

article

The differential diagnosis of enlarged hyperechogenic kidneys with normal or increased liquor volume: report of five cases and review of the literature.

artículo científico publicado en 1991

The evolution of prenatal diagnosis

artículo científico publicado en 2010

The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing

artículo científico publicado en 2005

The natural history of prenatally diagnosed congenital cystic lung lesions: long-term follow-up of 119 cases

artículo científico publicado en 2017

The risk of recurrence of holoprosencephaly in euploid fetuses

artículo científico publicado en 2007

The role of sonographic phenotyping in delivering an efficient non-invasive prenatal diagnosis (NIPD) service for FGFR3-related skeletal dysplasias

scientific article published on 30 March 2020

The significance of choroid plexus cysts in an unselected population: results of a multicenter study.

artículo científico publicado en 1998

The twin challenge in prenatal diagnosis

artículo científico publicado en 2005

Time and travel costs incurred by women attending antenatal tests: A costing study.

artículo científico publicado en 2016

Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay.

artículo científico publicado en 1996

Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies

scientific article published on 01 August 2019

Ultrasound findings before amniocentesis in selecting the method of analysing the sample.

artículo científico publicado en 2007

Ultrasound markers of fetal chromosomal abnormality: a survey of policies and practices in UK maternity ultrasound departments.

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Ultrasound screening for fetal abnormalities.

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Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia

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Update on the use of exome sequencing in the diagnosis of fetal abnormalities

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Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units

artículo científico publicado en 2016

Use of Cell-free DNA to Screen for Down's Syndrome

scientific article published on 01 April 2015

Uses of cell free fetal DNA in maternal circulation

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Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom

artículo científico publicado en 2013

Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals

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Will the introduction of non-invasive prenatal testing for Down's syndrome undermine informed choice?

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Women and health care professionals' preferences for Down's Syndrome screening tests: a conjoint analysis study

artículo científico publicado en 2004

Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study

artículo científico publicado en 2016

Women’s and Health Professionals’ Preferences for Prenatal Tests for Down Syndrome

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Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

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Wrongful birth: clinical settings and legal implications

artículo científico

Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100,000 genomes project

scientific article published on 21 August 2020

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