Search Results - "Chitty LS"

Abnormal folate metabolism in foetuses affected by neural tube defects.

Authors: Dunlevy LPE Chitty LS Burren KA et al.

Source: Brain: A Journal of Neurology; Apr2007, Vol. 130 Issue 4, p1043-1049, 7p

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Authors: Mellis, R Eberhardt, RY Hamilton, SJ et al.

Source: BJOG: An International Journal of Obstetrics & Gynaecology. Jan2022, Vol. 129 Issue 1, p52-61. 10p.

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021.

Authors: Mone, F McMullan, DJ Williams, D et al.

Source: BJOG: An International Journal of Obstetrics & Gynaecology. Aug2021, Vol. 128 Issue 9, pe39-e50. 12p.

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

Authors: Lewis, C Riddington, M Hill, M et al.

Source: BJOG: An International Journal of Obstetrics & Gynaecology. May2019, Vol. 126 Issue 6, p745-753. 9p. 4 Charts.

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

Authors: Lewis, C Hill, M Silcock, C et al.

Source: BJOG: An International Journal of Obstetrics & Gynaecology. Apr2014, Vol. 121 Issue 5, p582-594. 13p. 3 Charts.

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

Authors: Sebire NJ Weber MA Thayyil S et al.

Source: Journal of Maternal-Fetal & Neonatal Medicine. May2012, Vol. 25 Issue 5, p513-518. 6p.

The risk of recurrence of holoprosencephaly in euploid fetuses.

Authors: David AL Gowda V Turnbull C et al.

Source: Obstetrics & Gynecology. Sep2007, Vol. 110 Issue 3, p658-662. 5p.

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

Authors: Lewis, C Hill, M Silcock, C et al.

Source: BJOG: An International Journal of Obstetrics & Gynaecology. Oct2014, Vol. 121 Issue 11, p1444-1444. 1p.

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Authors: Sherrill E Cheerie D Beck CJ et al.

Corporate Authors: Sherrill E Cheerie D Beck CJ et al.

Source: JAMA neurology [JAMA Neurol] 2026 Jun 01; Vol. 83 (6), pp. 598-601.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE; In Process

Can an Animation Improve Parents' Knowledge and How Does It Compare to Written Information? Development and Survey Evaluation of an Animation for Parents About Prenatal Sequencing.

Authors: Daniel M McInnes-Dean H Wu WH et al.

Source: Prenatal diagnosis [Prenat Diagn] 2026 May; Vol. 46 (5-6), pp. 737-745. Date of Electronic Publication: 2025 Apr 02.

Publication Type: Journal Article; Randomized Controlled Trial; Comparative Study

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Are People From Black Communities Proportionately Represented in UK and US Studies Examining Views on Screening and Diagnostic Genetic Testing in Pregnancy? A Scoping Review.

Authors: Peter M Baptiste R Lewis C et al.

Source: BJOG : an international journal of obstetrics and gynaecology [BJOG] 2025 Dec; Vol. 132 (13), pp. 1956-1965. Date of Electronic Publication: 2025 Apr 29.

Publication Type: Journal Article; Scoping Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100935741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-0528 (Electronic) Linking ISSN: 14700328 NLM ISO Abbreviation: BJOG Subsets: MEDLINE

Black parents' views and understanding of prenatal genetic testing: a cross-sectional survey of attitudes, knowledge and trust in UK healthcare.

Authors: Peter M Abe C Agyepong A et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul; Vol. 34 (7), pp. 1005-1014. Date of Electronic Publication: 2026 Feb 28.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Parent and professional experiences of a clinical trial of prenatal and postnatal stem cell therapy for severe osteogenesis imperfecta.

Authors: Behera B Ingvoldstad Malmgren C Åström E et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun 30. Date of Electronic Publication: 2026 Jun 30.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Moving beyond good intentions: a qualitative study exploring healthcare professionals' perspectives on delivering equitable prenatal testing in the English NHS.

Authors: Peter M Abe C Agyepong A et al.

Source: International journal for equity in health [Int J Equity Health] 2026 May 13; Vol. 25 (1). Date of Electronic Publication: 2026 May 13.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101147692 Publication Model: Electronic Cited Medium: Internet ISSN: 1475-9276 (Electronic) Linking ISSN: 14759276 NLM ISO Abbreviation: Int J Equity Health Subsets: MEDLINE

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review.

Authors: Lim KMX Gibbs A Scotchman E et al.

Source: Prenatal diagnosis [Prenat Diagn] 2026 May; Vol. 46 (5-6), pp. 756-770. Date of Electronic Publication: 2026 Mar 02.

Publication Type: Systematic Review; Journal Article; Review

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Fetal Sequencing: Lessons Learnt and Challenges Remaining.

Authors: Chitty LS; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.

Source: Prenatal diagnosis [Prenat Diagn] 2026 May; Vol. 46 (5-6), pp. 617-618. Date of Electronic Publication: 2026 May 04.

Publication Type: Editorial

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE; In Process

The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World.

Authors: Sparks TN Chitty LS

Source: Prenatal diagnosis [Prenat Diagn] 2026 May; Vol. 46 (5-6), pp. 619-622. Date of Electronic Publication: 2025 Dec 12.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE; In Process

'I Have my Beliefs, but Then I Have my Reality': Reflections of Black and South Asian Parents Living in England on Screening and Genetic Diagnosis in Pregnancy.

Authors: Peter M Baptiste R Buabeng R et al.

Source: Prenatal diagnosis [Prenat Diagn] 2025 Jun; Vol. 45 (7), pp. 857-866. Date of Electronic Publication: 2025 Mar 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Optimising rapid prenatal exome sequencing in the NHS genomic medicine service: the EXPRESS Synopsis.

Authors: Hill M Peter M Daniel M et al.

Source: Health and social care delivery research [Health Soc Care Deliv Res] 2026 Apr; Vol. 14 (14), pp. 1-40.

Publication Type: Journal Article

Journal Info: Publisher: NIHR Journals Library Country of Publication: England NLM ID: 9918470788706676 Publication Model: Print Cited Medium: Internet ISSN: 2755-0079 (Electronic) Linking ISSN: 27550060 NLM ISO Abbreviation: Health Soc Care Deliv Res Subsets: MEDLINE

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Authors: Nguyen JNH Lachgar-Ruiz M Higginbotham EJ et al.

Corporate Authors: Nguyen JNH Lachgar-Ruiz M Higginbotham EJ et al.

Source: Neurology [Neurology] 2026 Mar 24; Vol. 106 (6), pp. e214645. Date of Electronic Publication: 2026 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE