"Patau syndrome" from_date:2012

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                            1
                            2021Public Health England
                            Down’s syndrome, Edwards’ syndrome and Patau’s syndrome: options after a higher chance screening result Down’s syndrome, Edwards’ syndrome and Patau’s syndrome: options after a higher chance screening result - GOV.UK Skip to main content Cookies on GOV.UKWe use some essential cookies to make this website work.We’d like to set additional cookies to understand how you use GOV.UK, remember your ) * Find a job * Check benefits and financial support you can get * Universal Credit account: sign in 1. Home 2. Health and social care 3. Public health 4. Population screening programmes 5. NHS fetal anomaly screening programme (FASP) Guidance Down’s syndrome, Edwards’ syndrome and Patau’s syndrome: options after a higher chance screening result * English * العربيَّة * বাংলা
                            2
                            2021Public Health England
                            Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome: non-invasive prenatal testing (NIPT) Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome: non-invasive prenatal testing (NIPT) - GOV.UK Skip to main content Cookies on GOV.UKWe use some essential cookies to make this website work.We’d like to set additional cookies to understand how you use GOV.UK, remember (COVID-19) * Find a job * Check benefits and financial support you can get * Universal Credit account: sign in 1. Home 2. Health and social care 3. Public health 4. Population screening programmes 5. NHS fetal anomaly screening programme (FASP) Guidance Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome: non-invasive prenatal testing (NIPT) Operational guidance
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                            3
                            2019Public Health England
                            Fetal anomaly screening laboratory handbook: Down’s, Edwards’ and Patau’s syndromes [Withdrawn] Fetal anomaly screening laboratory handbook: Down’s syndrome, Edwards’ syndrome and Patau’s syndrome - GOV.UK Skip to main content Cookies on GOV.UKWe use some essential cookies to make this website work.We’d like to set additional cookies to understand how you use GOV.UK, remember your settings * Check benefits and financial support you can get * Universal Credit account: sign in 1. Home 2. Health and social care 3. Public health 4. Population screening programmes 5. NHS fetal anomaly screening programme (FASP) Guidance Fetal anomaly screening laboratory handbook: Down’s syndrome, Edwards’ syndrome and Patau’s syndrome Screening laboratory guidelines and recommendations for Down’s
                            4
                            Patau's Syndrome (Trisomy 13) We value your privacyWe and our partners store and/or access information on a device, such as cookies and process personal data, such as unique identifiers and standard information sent by a device for personalised ads and content, ad and content measurement, and audience insights, as well as to develop and improve products. With your permission we and our partners with Patau's syndrome and Edwards' syndrome can have similar features and be difficult to differentiate.Pseudotrisomy 13 is used to describe babies with features typical of trisomy 13 but with a normal karyotype[5]. Investigations and managementCytogenetic studies and chromosomal analysis will confirm the diagnosis. Organ systems will need specific investigation depending on the abnormality - eg
                            5
                            Evidence for the Oocyte Mosaicism Selection model on the origin of Patau syndrome (trisomy 13). In 2008, Hultén et al hypothesized that maternal ovarian trisomy 21 mosaicism might be the primary causative factor for fetal Down syndrome. We hypothesize that this theory can be extended to trisomy 13. We collected fetal ovarian tissue from seven female fetuses between 16 and 23 gestational weeks
                            6
                            2016PloS one
                            Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve fetal aneuploidy diagnosis, especially for trisomy 13(T13) and trisomy 18(T18). Our aim was to study the methylation landscape in placenta DNA
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                            Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ectoderm to make globally comparable
                            8
                            2015Journal of Neonatal Surgery
                            Congenital Diaphragmatic Hernia in a Case of Patau Syndrome: A Rare Association Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done
                            9
                            2014eMedicine Pediatrics
                            Patau Syndrome (Diagnosis) Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology News & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português * UKNewUnivadisXUnivadis from MedscapeRegisterLog =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ3NzA2LW92ZXJ2aWV3processing....Drugs & Diseases > Pediatrics: Genetics and Metabolic Disease Patau SyndromeUpdated: Apr 06, 2021 * Author: Robert G Best, PhD, FACMG; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Patau Syndrome * * Sections Patau Syndrome * Overview * * * Practice Essentials
                            10
                            2014eMedicine Pediatrics
                            Patau Syndrome (Follow-up) Patau Syndrome Follow-up: Further Outpatient Care, Inpatient & Outpatient Medications, Deterrence/Prevention News & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ3NzA2LWZvbGxvd3Vwprocessing....Drugs & Diseases > Pediatrics: Genetics and Metabolic Disease Patau Syndrome Follow-upUpdated: Apr 06, 2021 * Author: Robert G Best, PhD, FACMG; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Patau Syndrome * * Sections Patau Syndrome * Overview * * * Practice Essentials
                            11
                            2014eMedicine Pediatrics
                            Patau Syndrome (Treatment) Patau Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations News & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português * UKNewUnivadisXUnivadis from =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ3NzA2LXRyZWF0bWVudA==processing....Drugs & Diseases > Pediatrics: Genetics and Metabolic Disease Patau Syndrome Treatment & ManagementUpdated: Apr 06, 2021 * Author: Robert G Best, PhD, FACMG; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Patau Syndrome * * Sections Patau Syndrome * Overview
                            12
                            2014eMedicine Pediatrics
                            Patau Syndrome (Overview) Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology News & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português * UKNewUnivadisXUnivadis from MedscapeRegisterLog =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ3NzA2LW92ZXJ2aWV3processing....Drugs & Diseases > Pediatrics: Genetics and Metabolic Disease Patau SyndromeUpdated: Apr 06, 2021 * Author: Robert G Best, PhD, FACMG; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Patau Syndrome * * Sections Patau Syndrome * Overview * * * Practice Essentials
                            13
                            2013Revista Paulista de Pediatria
                            Gestational, perinatal and family findings of patients with Patau syndrome To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were
                            14
                            2024British Medical Ultrasound Society
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                            ) website has resources relating to the programme and education. Although ultrasound is not part of the initial screening examination, specialists in breast ultrasound will use ultrasound techniques for further evaluation and biopsy. See additional resources at elfh - NHS Fetal Anomaly Screening Programme  Screening for Down’s, Edwards’ and Patau’s syndromes  Fetal cardiac elearning  First
                            15
                            2021National Institute for Health and Care Excellence - Clinical Guidelines
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                            for, screen for Down's syndrome, Edwards' syndrome and Patau's syndrome (see the NHS fetal anomaly screening programme). 1.2.15 Offer pregnant women an ultrasound scan to take place between 18+0 weeks and 20+6 weeks to: • screen for fetal anomalies (see the NHS fetal anomaly screening programme) • determine placental location. 1.2.16 At the antenatal appointment at 28 weeks, offer: • anti-D prophylaxis
                            16
                            2025NZ Ministry of Health guidelines
                            . A unique identifier assigned to each person who receives health care in New Zealand (Health New Zealand 2024a). Non-invasive prenatal testing A test/screen used to detect chromosomal abnormalities such as Down syndrome, Edwards’ syndrome and Patau syndrome in the DNA of a fetus. It is not funded in New Zealand (Health New Zealand 2024b). Rainbow As used in this report, an umbrella term to describe people
                            17
                            2025Carelon Medical
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                            approved to determine fetal sex and screen for fetal aneuploidy, including trisomies 13 (Patau syndrome), 18 (Edward syndrome), and 21 (Down syndrome) in high-risk and average-risk pregnancies.6 At any given maternal age, the rate of common trisomies is similar between singleton and twin pregnancies, and cfDNA screening provides higher predictive values among twin pregnancies compared to traditional
                            19
                            2024Queensland Health
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                            screening, CF: cystic fibrosis, CFTS: combined first trimester screening, CVS: chorionic villus sampling, FXS: fragile X syndrome, MFM: maternal fetal medicine, NIPT/NIPS: non-invasive prenatal screening test, NPV: negative predictive value, Org: organisation, PPV: positive predictive value, RGCS: reproductive genetic carrier screen, SMA: spinal muscular atrophy, T13: Trisomy 13 (Patau syndrome) T18 ) ......................................................................................... 26 9.3 Trisomy 13 (Patau syndrome) ............................................................................................. 27 9.4 Common sex chromosome conditions ................................................................................ 27 9.5 Cystic fibrosis (CF) .............................................................................................................. 28 9.6
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                            2024Carelon Medical
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                            not assess the risk of fetal structural anomalies such as neural tube defects or ventral wall defects.6NIPT was initially validated as a clinical prenatal screen for pregnancies at high risk for trisomy 21, and it has since been approved to determine fetal sex and screen for fetal aneuploidy, including trisomies 13 (Patau syndrome), 18 (Edward syndrome), and 21 (Down syndrome) in high-risk and average risk