Lyn Chitty

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Lyn Chitty is affiliated with the following schools: Imperial College London, University College London, University of Oxford, King's College London

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Lyn Chitty's Degrees

Masters Medicine University of Oxford

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According to Wikipedia, Dame Lyn Susan Chitty is a British physician and Professor of Genetics and Fetal Medicine at University College London. She is the deputy director of the National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre. She is the 2022 president of the International Society for Prenatal Diagnosis. Her research considers non-invasive prenatal diagnostics. She was made a Dame in the 2022 New Year Honours.

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Lyn Chitty's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). (2003) (699)
Charts of fetal size: 1. Methodology (1994) (385)
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study (2019) (344)
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study (2019) (344)
Charts of fetal size: 2. Head measurements * (1994) (314)
Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population. (1991) (292)
Charts of fetal size: 3. Abdominal measurements (1994) (278)
Charts of fetal size: 4. Femur length (1994) (237)
Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study (2013) (235)
Promises, pitfalls and practicalities of prenatal whole exome sequencing (2018) (228)
Fetal Size and Dating: Charts Recommended for Clinical Obstetric Practice (2009) (185)
Charts of Fetal Size (1994) (183)
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening (2015) (177)
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities (2015) (170)
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening (2015) (166)
Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. (2012) (147)
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature (2013) (138)
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach (2015) (136)
The clinical implementation of non‐invasive prenatal diagnosis for single‐gene disorders: challenges and progress made (2013) (132)
First and Second Trimester Antenatal Screening for Down's Syndrome: The Results of the Serum, Urine and Ultrasound Screening Study (SURUSS) (2003) (129)
Post-mortem examination of human fetuses: a comparison of whole-body high-field MRI at 9·4 T with conventional MRI and invasive autopsy (2009) (125)
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 (2016) (123)
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 (2012) (121)
Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield (2011) (117)
Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. (2010) (116)
Charts of fetal size: kidney and renal pelvis measurements (2003) (112)
Charts of fetal size: limb bones (2002) (110)
Women and health care professionals' preferences for Down's Syndrome screening tests: a conjoint analysis study (2004) (108)
Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities. (2016) (106)
Reduction in diagnostic and therapeutic interventions by non‐invasive determination of fetal sex in early pregnancy (2005) (106)
Ultrasound screening for fetal abnormalities (1995) (102)
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 (2014) (99)
Integrity of the methylation cycle is essential for mammalian neural tube closure. (2006) (98)
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management (2018) (97)
Non-invasive fetal sex determination: impact on clinical practice. (2008) (96)
Non-invasive prenatal diagnosis and determination of fetal Rh status. (2008) (93)
Chondrodysplasia punctata: a clinical diagnostic and radiological review (2008) (91)
Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study (2014) (87)
Post mortem magnetic resonance imaging in the fetus, infant and child: A comparative study with conventional autopsy (MaRIAS Protocol) (2011) (84)
Minimally invasive perinatal autopsies using magnetic resonance imaging and endoscopic postmortem examination (“keyhole autopsy”): feasibility and initial experience (2012) (84)
Dysplastic and polycystic kidneys: diagnosis, associations and management (2001) (81)
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32 (1999) (77)
Noninvasive prenatal testing for aneuploidy-ready for prime time? (2012) (77)
Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective (2012) (76)
Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study (2006) (75)
Intra‐amniotic inflammation in human gastroschisis: possible aetiology of postnatal bowel dysfunction (1998) (75)
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol (2014) (73)
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA (2013) (72)
Dysplastic kidneys. (2008) (72)
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
Prenatal features of Noonan syndrome (1999) (72)
Measurement of the fetal mandible—feasibility and construction of a centile chart (1993) (71)
Association of isolated short femur in the mid‐trimester fetus with perinatal outcome (2008) (71)
Diagnostic accuracy of post-mortem magnetic resonance imaging in fetuses, children and adults: a systematic review. (2010) (70)
For Debate: Continuing with pregnancy after a diagnosis of lethal abnormality: experience of five couples and recommendations for management (1996) (69)
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis (2015) (69)
Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy (2015) (67)
Diagnostic accuracy and limitations of post-mortem MRI for neurological abnormalities in fetuses and children. (2015) (64)
Early prenatal diagnosis of skeletal anomalies (2011) (63)
Women’s Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study (2016) (62)
The natural history of prenatally diagnosed congenital cystic lung lesions: long-term follow-up of 119 cases (2017) (60)
Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second‐trimester amniocenteses (2004) (58)
Noninvasive prenatal testing: the paradigm is shifting rapidly (2013) (58)
Non‐invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound (2006) (57)
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 (2005) (57)
Molecular prenatal diagnosis: the impact of modern technologies (2010) (56)
Abnormal folate metabolism in foetuses affected by neural tube defects. (2006) (56)
Fetal sex determination using cell‐free fetal DNA: service users' experiences of and preferences for service delivery (2012) (55)
Uses of cell free fetal DNA in maternal circulation. (2012) (54)
Non‐invasive prenatal diagnosis for single gene disorders: experience of patients (2014) (54)
Ultrasound screening for fetal abnormalities in the first trimester (1997) (54)
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. (2016) (54)
Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA. (2015) (52)
Comparison of diagnostic performance for perinatal and paediatric post-mortem imaging: CT versus MRI (2016) (51)
Non-invasive prenatal diagnosis: progress and potential (2014) (50)
Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children (2014) (50)
Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing (2009) (49)
Fetal cardiac anomalies and genetic syndromes (2004) (49)
Offering prenatal diagnostic tests: European guidelines for clinical practice (2013) (49)
Evaluation of a Novel Assay for Detection of the Fetal Marker RASSF1A: Facilitating Improved Diagnostic Reliability of Noninvasive Prenatal Diagnosis (2012) (48)
Perinatal mortality in different ethnic groups. (1989) (48)
Views and preferences for the implementation of non‐invasive prenatal diagnosis for single gene disorders from health professionals in the united kingdom (2013) (47)
Non-invasive prenatal testing for single gene disorders: exploring the ethics (2012) (47)
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals (2015) (46)
Excess methionine suppresses the methylation cycle and inhibits neural tube closure in mouse embryos (2006) (46)
Cell-Free Fetal DNA Testing for Prenatal Diagnosis. (2016) (46)
A semi-automated method for non-invasive internal organ weight estimation by post-mortem magnetic resonance imaging in fetuses, newborns and children. (2009) (45)
Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways (2016) (45)
Noninvasive prenatal diagnosis: current practice and future perspectives (2008) (45)
Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature (1999) (45)
Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing. (2018) (44)
Incremental cost of non‐invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England (2011) (44)
SAFE—The Special Non‐invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements (2008) (44)
Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome? (2017) (42)
Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom (2012) (40)
Postmortem Cardiovascular Magnetic Resonance Imaging in Fetuses and Children: A Masked Comparison Study With Conventional Autopsy (2014) (40)
An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family. (1998) (39)
Inositol for the prevention of neural tube defects: a pilot randomised controlled trial (2016) (39)
Diagnostic accuracy of post mortem MRI for abdominal abnormalities in foetuses and children. (2015) (39)
Prenatal management of disorders of sex development. (2012) (39)
“We might get a lot more families who will agree”: Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy (2018) (38)
Client Views and Attitudes to Non-Invasive Prenatal Diagnosis for Sickle Cell Disease, Thalassaemia and Cystic Fibrosis (2014) (38)
Will the introduction of non‐invasive prenatal testing for Down's syndrome undermine informed choice? (2015) (37)
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 hybridisation (2017) (37)
Cell‐free fetal DNA: the new tool in fetal medicine (2015) (36)
Offering non‐invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained? (2017) (36)
Non‒visualisations of the fetal bladder: aetiology and management (2001) (35)
Cystic lung lesions – prenatal diagnosis and management (2008) (34)
A comparison of Australian and UK obstetricians' and midwives' preferences for screening tests for Down syndrome (2006) (34)
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation (2014) (34)
Next-generation sequencing and the impact on prenatal diagnosis (2018) (34)
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. (2015) (33)
Non-invasive prenatal testing for Down syndrome. (2014) (33)
A qualitative study looking at informed choice in the context of non‐invasive prenatal testing for aneuploidy (2016) (33)
Evaluation of Allelic Expression of Imprinted Genes in Adult Human Blood (2010) (33)
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis (2022) (33)
Health professionals’ and coroners’ views on less invasive perinatal and paediatric autopsy: a qualitative study (2018) (32)
Update on the use of exome sequencing in the diagnosis of fetal abnormalities. (2019) (32)
RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy (2014) (31)
Is informed choice in prenatal testing universally valued? A population‐based survey in Europe and Asia (2009) (31)
Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia (2007) (31)
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 (2012) (31)
Practical issues drawn from the implementation of the integrated test for Down syndrome screening into routine clinical practice (2007) (30)
Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier. (2019) (30)
Recreational drugs and fetal gastroschisis: maternal hair analysis in the peri‐conceptional period and during pregnancy (2005) (30)
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review (2020) (30)
Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project (2019) (29)
In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013 (2014) (29)
Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and children (2014) (28)
Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders. (2016) (28)
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 (2006) (28)
Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study (2020) (28)
PEHO or PEHO-like syndrome? (1996) (28)
Non‐invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers (2015) (27)
Accuracy of antenatal fetal ultrasound in the diagnosis of duplex kidneys (2003) (26)
Fetal genital anomalies: an aid to diagnosis (2008) (26)
Ultrasound findings before amniocentesis in selecting the method of analysing the sample (2007) (26)
Congenital malformations of the lower respiratory tract. (2006) (25)
Current controversies in prenatal diagnosis 2: Cell‐free DNA prenatal screening should be used to identify all chromosome abnormalities (2018) (25)
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? (2021) (25)
Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia—a report of six pregnancies (2006) (24)
Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered (2021) (23)
Erratum: Post-mortem MRI versus conventional autopsy in fetuses and children: A prospective validation study (Lancet (2013) 382 (223-233)) (2013) (23)
A Case-Control Study of Maternal Periconceptual and Pregnancy Recreational Drug Use and Fetal Malformation Using Hair Analysis (2014) (23)
The 100 000 Genomes Project: What it means for paediatrics (2016) (23)
Congenital cystic adenomatoid malformations may not require surgical intervention (2006) (22)
The challenge of imaging the fetal central nervous system: an aid to prenatal diagnosis, management and prognosis (2009) (22)
Perlman syndrome—a cause of enlarged, hyperechogenic kidneys (1998) (22)
Cell-free fetal DNA and non-invasive prenatal diagnosis. (2009) (22)
An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders (2014) (22)
The development of a peptide SRM-based tandem mass spectrometry assay for prenatal screening of Down syndrome. (2012) (21)
Non-invasive prenatal diagnosis and screening for monogenic disorders. (2020) (21)
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 (2013) (21)
Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study (2018) (20)
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges (2020) (20)
Fetal forearm anomalies: prenatal diagnosis, associations and management strategy (2012) (20)
Congenital Lung Disease (2019) (19)
Foetal brain imaging: ultrasound or MRI. A comparison between magnetic resonance imaging and a dedicated multidisciplinary neurosonographic opinion (2008) (19)
Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed‐methods systematic review (2020) (19)
Lung aeration on post-mortem magnetic resonance imaging is a useful marker of live birth versus stillbirth (2014) (19)
Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy (2017) (19)
Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review. (1996) (19)
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications. (2019) (19)
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 (2017) (19)
Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta‐analysis (2021) (18)
Ultrasound markers of fetal chromosomal abnormality: a survey of policies and practices in UK maternity ultrasound departments (2000) (18)
‘Hope for safe prenatal gene tests’. A content analysis of how the UK press media are reporting advances in non‐invasive prenatal testing (2015) (18)
Non-invasive prenatal testing for aneuploidy, copy number variants and single gene disorders. (2020) (18)
Identification of new biomarkers for Down's syndrome in maternal plasma. (2012) (17)
Post‐mortem apparent resolution of fetal ventriculomegaly: evidence from magnetic resonance imaging (2013) (17)
Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion (2017) (17)
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 (2014) (16)
Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype. (1991) (16)
The Risk of Recurrence of Holoprosencephaly in Euploid Fetuses (2007) (16)
Developing noninvasive diagnosis for single-gene disorders: the role of digital PCR. (2014) (16)
Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies (2021) (16)
A case of atelosteogenesis. (1990) (16)
Prenatal evaluation of fetal neck masses in preparation for the EXIT procedure: the value of pulmonary Doppler ultrasonography (PDU) (2001) (16)
Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use? (2014) (16)
Development of the Knowledge of Genome Sequencing (KOGS) questionnaire. (2018) (16)
Prenatal screening for chromosome abnormalities. (1998) (16)
A sonographic approach to the prenatal diagnosis of skeletal dysplasias (2019) (15)
Congenital anterior abdominal wall defects (1996) (15)
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization (2013) (15)
Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta (2019) (14)
Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome. (2017) (14)
Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus? (2016) (14)
Stakeholder attitudes and needs regarding cell-free fetal DNA testing (2016) (14)
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis (2022) (14)
EP21.04: BOOSTB4: a clinical study to determine safety and efficacy of pre- and/or postnatal stem cell transplantation for treatment of osteogenesis imperfecta. (2016) (14)
Is traditional perinatal autopsy needed after detailed fetal ultrasound and post‐mortem MRI? (2019) (13)
Prospective Register of Outcomes of Free-fetal DNA testing (PROOF) - results of the first year's audit (2007) (13)
PRENATAL DIAGNOSIS OF BLACKFAN–DIAMOND SYNDROME: CASE REPORT AND REVIEW OF THE LITERATURE (1996) (13)
A new syndrome comprising vertebral anomalies and multicystic kidneys. (1999) (13)
Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome (2001) (13)
A distinctive overgrowth syndrome with polysyndactyly (1996) (12)
Antenatal screening for aneuploidy. (1998) (12)
Feasibility and experience of the MinImAL procedure: Minimally Invasive perinatal and paediatric Autopsies with Laparoscopically assisted tissue sampling. (2019) (11)
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 (2020) (11)
Preferences for prenatal testing among pregnant women, partners and health professionals. (2018) (11)
Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study. (2019) (10)
Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening. (2017) (10)
Preferences for prenatal diagnosis of sickle‐cell disorder: A discrete choice experiment comparing potential service users and health‐care providers (2017) (10)
Informed choice to undergo prenatal screening for thalassemia: a description of written information given to pregnant women in Europe and beyond (2008) (10)
Wrongful birth: clinical settings and legal implications. (2014) (10)
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 (2014) (10)
Pseudotrisomy 13 and autosomal recessive holoprosencephaly. (1993) (10)
Non-invasive Prenatal Diagnosis for BRCA Mutations – a Qualitative Pilot Study of Health Professionals’ Views (2016) (10)
Pitfalls in counselling: the craniosynostoses. (1991) (10)
IMPLEMENTATION OF ROUTINE OF FETAL RHD TYPING IN ALL RHD-NEGATIVE PREGNANT WOMEN: TIMING, COSTS, AND EFFICIENCY (2012) (9)
Informed choice in prenatal testing: a survey among obstetricians and gynaecologists in Europe and Asia (2008) (9)
Use of cell-free DNA to screen for Down's syndrome. (2015) (9)
Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review. (2019) (9)
Multiplex ligation-dependent probe amplification (MLPA): a reliable alternative for fetal chromosome analysis? (2012) (9)
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3‐related skeletal dysplasias (2020) (8)
Ensuring high standards for the delivery of NIPT world‐wide: Development of an international external quality assessment scheme (2019) (8)
Choroid Plexus Cysts - When to Karyotype? (1993) (8)
Sex selection: triumph or tyranny? (2006) (8)
Advances in the prenatal diagnosis of monogenic disorders (2018) (8)
Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II. (1994) (7)
PRENATAL DIAGNOSIS OF SKELETAL DYSPLASIAS (2008) (7)
Next generation sequencing and the next generation: how genomics is revolutionizing reproduction (2015) (7)
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. (2020) (7)
Fetal central nervous system anomalies: When should we offer exome sequencing? (2022) (7)
Development and mixed-methods evaluation of an online animation for young people about genome sequencing (2020) (7)
Realising the promise of non-invasive prenatal testing (2015) (7)
Emerging Considerations for Noninvasive Prenatal Testing. (2017) (7)
Lessons learnt from prenatal exome sequencing (2022) (7)
Syndromic associations with congenital anomalies of the fetal thorax and abdomen (2008) (7)
Cell-free DNA testing: an aid to prenatal sonographic diagnosis. (2014) (7)
Whole genome sequencing for diagnosis of neurological repeat expansion disorders (2020) (7)
Choroid plexus cysts: the need for further study (1994) (7)
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Detection of Paternal Mutations, Exploration of Patient Preferences, and Cost Analysis (2016) (6)
Postmortem magnetic resonance appearances of congenital high airway obstruction syndrome (2014) (6)
Edematous polydactyly in Smith‐Lemli–Opitz syndrome Type II (2004) (6)
In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018 (2019) (6)
Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study. (2021) (6)
First trimester screening ‐ new directions for antenatal care? (2011) (6)
Prenatal diagnosis of Blackfan-Diamond syndrome: case report and review of the literature. (1996) (6)
Has Noninvasive Prenatal Testing Impacted Termination of Pregnancy and Live Birth Rates of Infants With Down Syndrome (2018) (6)
Cell-Free DNA in Pediatric Solid Organ Transplantation Using a New Detection Method of Separating Donor-Derived from Recipient Cell-Free DNA. (2020) (5)
Factors Affecting Uptake of Postmortem Examination in the Prenatal, Perinatal and Paediatric Setting; a Systematic Review (2017) (5)
Prenatal sonographic diagnosis of Malpuech syndrome (2006) (5)
Prenatal diagnosis of craniosynostosis: Sonographic features of Muenke syndrome (2011) (5)
In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2019 (2019) (5)
Bodyweight limits of fetal Post Mortem MRI at 1.5 T: Bodyweight limits of PMMR (2015) (5)
In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2015 (2016) (5)
First- and second-trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS) (vol 10, pg 56, 2003) (2006) (5)
Prenatal screening for Down syndrome. (1998) (4)
Inositol for prevention of neural tube defects: a pilot randomised controlled trial – CORRIGENDUM (2016) (4)
In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2014 (2015) (4)
The evolution of prenatal diagnosis (2010) (4)
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery (2020) (4)
In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017 (2018) (4)
Non-invasive prenatal testing for Down's syndrome—Where are we now? (2014) (4)
Time and travel costs incurred by women attending antenatal tests: A costing study. (2016) (4)
RECENT DEVELOPMENTS in NON-INVASIVE PRENATAL DIAGNOSIS and TESTING (2014) (3)
“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 (2019) (3)
Non-invasive prenatal diagnosis: implications for antenatal diagnosis and the management of high-risk pregnancies. (2008) (3)
Short femora - achondroplasia or IUGR: use of growth patterns as an aid to diagnosis (2002) (3)
Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS (2019) (3)
Uptake, Outcomes, and Costs of Implementing Non-invasive Prenatal Testing for Down Syndrome Into NHS Maternity Care: Prospective Cohort Study in Eight Diverse Maternity Units EDITORIAL COMMENT (2016) (3)
Societal Aspects: Ethics (2015) (3)
Mild renal pelvis dilatation: implications and management (1998) (3)
progress in prenatal genetic diagnosis: Using cell-free fetal DNa in maternal blood (2013) (3)
21 – Congenital Lung Disease (2012) (3)
Fetal Skeletal Abnormalities (2011) (3)
Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study (2022) (3)
Non‐invasive prenatal testing 10 years on (2021) (3)
Epidemiological and sonographic features of fetal gastroschisis and neonatal outcome. (1996) (2)
OC11.09: Congenital heart disease and the diagnostic yield with exome sequencing (CODE Study): a prospective cohort study and systematic review (2020) (2)
The twin challenge in prenatal diagnosis (2005) (2)
Anomalies of the fetal thorax and abdomen: diagnosis, management and outcome (2008) (2)
The Role of Sonographic Phenotyping in Delivering an Efficient Noninvasive Prenatal Diagnosis Service for FGFR3-Related Skeletal Dysplasias (2020) (2)
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think? (2022) (2)
Quality criteria for randomized controlled studies: Obstetric Journal Guidelines. (2021) (2)
P30.03: Ventriculomegaly at 11–14 weeks: diagnostic criteria and outcome (2016) (2)
Perinatal renal disease. (2008) (2)
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved] (2022) (2)
Advances in prenatal diagnosis. (1984) (2)
Cardiac disease—aetiology, prenatal diagnosis and management (2004) (2)
Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay (1996) (2)
Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies (2019) (2)
In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2016 (2017) (2)
Techniques in Current Use in Prenatal Diagnosis (1994) (2)
Pitfalls and Practicalities of Prenatal Whole Exome Sequencing Short title : Promises and Pitfalls of Prenatal Whole Exome Sequencing (2017) (1)
Postmortem Examination of Human Fetuses: A Comparison of Whole-Body High-Field MRI at 9.4 Tesla With Conventional MRI and Invasive Autopsy EDITORIAL COMMENT (2009) (1)
Is Traditional Perinatal Autopsy Needed After Detailed Fetal Ultrasound and Postmortem MRI? (2020) (1)
Fetal therapy: progress made and lessons learnt (2011) (1)
Effectiveness of non-invasive prenatal diagnosis using free fetal DNA in the maternal circulation. (2006) (1)
Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study (2022) (1)
Posterior Urethral Valves (PUV): Prenatal Ultrasound Findings and their Correlation with Glomerular Filtration Rate (GFR) at I Year of Age (2008) (1)
Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders (2022) (1)
Detection of DiGeorge and Cri du Chat syndrome deletions from maternal plasma by deep sequencing cell free DNA (cfDNA) (2013) (1)
Service users and care providers' experiences of tertiary combined fetal medicine clinics (2012) (1)
Preimplantation genetic diagnosis: current practice and future possibilities (2009) (1)
Cell-free fetal DNA: emerging applications and future obstacles (2012) (1)
Evaluation of array comparative genomic hybridisation in prenatal diagnosis of fetal anomalies (EACH Study) (2015) (1)
Living with Osteogenesis Imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals. (2021) (1)
Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey (2022) (1)
Noninvasive Prenatal Screening and Diagnosis Using Cell‐free Fetal DNA (2015) (1)
What's out there for parents? A systematic review of online information about prenatal microarray and exome sequencing (2021) (1)
Should we offer prenatal exome sequencing for foetal growth restriction or short long bones? - a systematic review and meta-analysis. (2022) (1)
Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches (2023) (1)
observational study abnormalities by rapid aneuploidy screening: prenatal diagnosis of chromosomal Fetal nuchal translucency scan and early (2008) (1)
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management (2018) (1)
A new decade, fond farewells and a new era for Prenatal Diagnosis (2020) (1)
Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study (2018) (0)
Results: interview and focus group study with religious leaders and community members (2019) (0)
Noninvasive Prenatal Diagnosis and Screening for Monogenic Disorders Using Cell‐Free DNA (2021) (0)
Position statement from the International Society for Prenatal Diagnosis (ISPD) on the use of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal conditions in singleton pregnancies. (2023) (0)
Comparison of multiplexed maternal plasma DNA sequencing and targeted (chromosome selective) next generat on sequencing approaches for the non-invasive prenata detection of trisomy 21 (2012) (0)
Reproductive Genetics: Consensus views arising from the 57th Study Group: Reproductive Genetics (2009) (0)
The postnatal significance of mild fetal pyelectasis (2001) (0)
The detection rate of karyotypic abnormalities in an unselected population (1997) (0)
Authors's reply (1994) (0)
Lay attitudes towards choosing the sex of offspring: A systematic review (2006) (0)
Summary of papers detailing factors affecting uptake of autopsy examination (2019) (0)
Paper Abstracts of the ISPD 18th International Conference on Prenatal Diagnosis and Therapy (2014) (0)
Fetal dysmorphology: the role of the geneticist in the fetal medicine unit in targeting diagnostic tests (2009) (0)
The 2014 Malcolm Ferguson‐Smith Young Investigator Award (2015) (0)
Routine antenatal determination of fetal rhesus (RH) D status using cell free fetal dna in the maternal circulation: women and health professionals' attitudes (2011) (0)
The 2015 Malcolm Ferguson‐Smith Young Investigator Award (2016) (0)
Background and overview ofthe research (2019) (0)
Missed diagnoses of abnormal copy number variant cases: A national epidemic or an endemic at a single institution? (2018) (0)
In This Issue (2012) (0)
Fetal Anomalies: Ultrasound Diagnosis and Postnatal Management (2003) (0)
The 2013 Malcolm Ferguson‐Smith Young Investigator Award (2014) (0)
Sonographic diagnosis of fetal skeletal anomalies (2016) (0)
The risk of recurrence of holoprosencephaly in women whose fetus is euploid (2007) (0)
Con fi ned placental mosaicism : implications for fetal chromosomal analysis using microarray comparative genomic hybridization (2014) (0)
Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study (2020) (0)
Knowledge of Genome Sequencing Questionnaire (2019) (0)
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges (2020) (0)
18th International Conference on Prenatal Diagnosis and Therapy Late Breaking Abstracts (2014) (0)
Diagnosis and Management of Fetal Skeletal Abnormalities (2020) (0)
The 2017 Malcolm Ferguson‐Smith Young Investigator Award (2018) (0)
Pediatric and prenatal urological ultrasound (2006) (0)
97 Exploring health professional attitudes towards rapid fetal exome sequencing for prenatal diagnosis: What do we need to do to ensure safe implementation? (2019) (0)
Non-invasive prenatal diagnosis: the future of prenatal genetic diagnosis? (2009) (0)
The association of midtrimester short femur with perinatal outcome (2006) (0)
69 Looking beyond no primary findings in the 100,000 genomes project: can additional bioinformatics analysis reveal diagnoses? (2019) (0)
The 2011 Malcolm Ferguson‐Smith Young Investigator Award (2012) (0)
Chapter 17 – Congenital Lung Disease (2006) (0)
Chondrodysplasia punctata: an aetiological classification and diagnostic aid (2005) (0)
A perinatal mortality study in the North-west Thames region (1988) (0)
Prenatal Diagnosis of Cystic Lung Lesions (2001) (0)
Prenatally diagnosed congenital cystic adenomatoid malformation (CCAM) and pulmonary sequestration (PS): Long-term follow-up of 119 cases (2016) (0)
Familial screening for duplex kidneys (2002) (0)
Abstracts of the 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy, 24-28 September 2016. (2016) (0)
Non-invasive prenatal diagnosis for autosomal recessive disorders: a comparison of digital PCR and next generation sequencing for exclusion of paternal mutations (2012) (0)
Noninvasive Prenatal Diagnosis for Single-Gene Disorders (2020) (0)
Less invasive autopsy by postmortem MR imaging of brain and spinal cord in fetuses, newborns and children (2011) (0)
NMR studies of amniotic fluid in human fetal urogenital tract obstruction (2004) (0)
Non-invasive prenatal diagnosis (NIPD) for fetal sex in clinical practice accurate information, fewer invasive tests and no additional health care costs (2010) (0)
Flow cytometry and cytology of human amniotic fluid in fetal gastroshisis: increased CD15, CD11B and polymorph infiltration may alter outcome (1997) (0)
Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally. (2022) (0)
Congenital malformations. (1990) (0)
The 2016 Malcolm Ferguson‐Smith Young Investigator Award (2017) (0)
Prenatal diagnosis of congenital diaphragmatic hernia: prognostic factors and perinatal outcome (1997) (0)
The 2019 Malcolm Ferguson‐Smith Young Investigator Award (2020) (0)
Congenital malformations. (1968) (0)
The 2012 Malcolm Ferguson‐Smith Young Investigator Award (2012) (0)
Masked Comparison Study With Conventional Autopsy Postmortem Cardiovascular Magnetic Resonance Imaging in Fetuses and Children : A (2014) (0)
Emerging Considerations for Noninvasive Prenatal Testing screening for (2017) (0)
Contributors (2006) (0)
Ethical aspects of stem cell therapy and gene therapy (2009) (0)
OP23.08: Early pregnancy differentiation of lethal and non‐lethal skeletal dysplasias (2010) (0)
Non-invasive prenatal diagnosis of single gene disorders an aid to the confirmation of fetal ultrasound findings (2010) (0)
Non-invasive prenatal diagnosis for skeletal dysplasias - Implementation into clinical practice (2012) (0)
Array CGH in patients with cleft lip and/or palate (2010) (0)
Routine Fetal Anomaly Scanning: The Case in Favour (1994) (0)
Clinical trial of combined folic acid and inositol treatment for prevention of NTDs. (2006) (0)
Non-invasive prenatal diagnosis (NIPD): current and emerging technologies (2023) (0)
Long-term Follow-up of fetal Cystic lung Lesion - a model for other anomalies (2006) (0)
Development and mixed-methods evaluation of an online animation for young people about genome sequencing (2020) (0)
Duplex kidneys- antenatal diagnosis, clinical significance and genetics (2002) (0)
Non-invasive Prenatal Detection of Aneuploidy by Targeted Next Generation Sequencing (2011) (0)
The 2018 Malcolm Ferguson‐Smith Young Investigator Award (2019) (0)
Folate Metabolism and Neural Tube Defects (2006) (0)
Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities (2016) (0)
Prevention of neural tube defects by inositol (PONTI) (2006) (0)
Offering prenatal diagnostic tests: European guidelines for clinical practice (2014) (0)
An apparently new syndrome of bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay. (1993) (0)
Hyperechogenic Kidneys in the Fetus Diagnosis and Management (2001) (0)
56 Parent and health professional experiences and views of genome sequencing for rapid diagnosis in critically ill children (2019) (0)
The 2010 Malcolm Ferguson‐Smith Young Investigator Award (2011) (0)
Ultrasound markers of fetal chromosomal abnormalities—review of current UK practice (1997) (0)
Non invasive prenatal diagnosis of single gene disorders An exploration of views and preferences gathered from the people who will use these tests (2010) (0)
Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta (2019) (0)
Fetal stenographic biometry. A guide to normal and abnormal measurements (1998) (0)
Paediatric and urological ultrasound. (2005) (0)
Identification of novel protein biomarkers in amnaiotic fluid and fetal urine in fetuses with serious renal abnormalities. (2008) (0)
Facilitating implementation of NIPD a modified protocol to detect the universal fetal DNA marker RASSF1A (2010) (0)
Effectiveness of Routine Ultrasonography in Detecting Fetal Structural Abnormalities in a Low-Risk Population (1992) (0)
Clinical outcome of prenatally diagnosed duplex kidneys (2003) (0)
Oral Abstracts of the ISPD 21st International Conference on Prenatal Diagnosis and Therapy, San Diego, California, USA, 9–12 July 2017 (2017) (0)
Assessment of Fetal Skeletal Abnormality by Ultrasonography (2017) (0)
CHARTS OF FETAL SIZE. AUTHORS' REPLY (1994) (0)
OC06.02: Expanding analysis of cell‐free DNA to deliver safe, accurate, speedy diagnosis of skeletal dysplasias and other monogenic disorders (2016) (0)
Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis (2022) (0)
B2.4 Rapid paediatric sequencing (raps) in critically ill children at great ormond street hospital (2017) (0)
OP08.09: Rapid whole exome sequencing for the prenatal diagnosis sonographic abnormalities (2016) (0)

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