Prenatal Diagnosis Concept

subject area of

• DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?  Journal Articles
• A RARE CASE OF INTERSTITIAL del(1)(p34.3p36.11) DIAGNOSED PRENATALLY  Journal Articles
• A clinical approach to the use of predictive values in the prenatal diagnosis of neural tube defects  Journal Articles
• A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome  Journal Articles
• A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing  Journal Articles
• A qualitative study on how Muslim women of Moroccan descent approach antenatal anomaly screening  Journal Articles
• Academic detailing and adherence to guidelines for Group B streptococci prenatal screening: a randomized controlled trial  Journal Articles
• Alpha-thalassaemia and population health in Southeast Asia  Journal Articles
• An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis  Journal Articles
• Antenatal MR imaging of pulmonary lymphangiectasia secondary to hypoplastic left heart syndrome  Journal Articles
• Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis  Journal Articles
• Antenatal counselling for congenital anomaly tests: An exploratory video-observational study about client–midwife communication  Journal Articles
• Antenatal counselling for congenital anomaly tests: Pregnant Muslim Moroccan women׳s preferences  Journal Articles
• Anti-ζ Antibody Screening for α-Thalassemia Using Dried Filter Paper Blood  Journal Articles
• Antibiotic Prophylaxis for Urinary Tract Infections in Antenatal Hydronephrosis  Journal Articles
• Assessment of intrauterine growth retardation by diagnostic ultrasound  Journal Articles
• Assessment of the early risks of chorionic villus sampling.  Journal Articles
• Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis  Journal Articles
• Baller‐Gerold syndrome associated with congenital hydrocephalus  Journal Articles
• Bleeding disorders in neonates  Journal Articles
• CHORIONIC VILLUS SAMPLING  Journal Articles
• CHORIONIC VILLUS SAMPLING FOLLOWED BY GENETIC AMNIOCENTESIS AND SEPTIC SHOCK  Journal Articles
• Can Preference Scores for Discrete States Be Used to Derive Preference Scores for an Entire Path of Events?  Journal Articles
• Can adverse maternal and perinatal outcomes be predicted when blood pressure becomes elevated? Secondary analyses from the CHIPS (Control of Hypertension In Pregnancy Study) randomized controlled trial  Journal Articles
• Carrier Screening for Genetic Disorders in Individuals of Ashkenazi Jewish Descent  Journal Articles
• Carrier detection and prenatal diagnosis of hemoglobinopathies in Ontario.  Journal Articles
• Carrier detection in the hemophilias  Journal Articles
• Changes in detection of birth defects and perinatal mortality after introduction of prenatal ultrasound screening in the Kola Peninsula (North-West Russia): combination of two birth registries  Journal Articles
• Changes in rate of preterm birth and adverse pregnancy outcomes attributed to preeclampsia after introduction of a refined definition of preeclampsia: A population‐based study  Journal Articles
• Clients’ psychosocial communication and midwives’ verbal and nonverbal communication during prenatal counseling for anomaly screening  Journal Articles
• Clinical trial of chorion biopsy.  Journal Articles
• Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study  Journal Articles
• Congenital supratentorial meningeal arteriovenous malformation with hemangioma and massive arachnoid cell hyperplasia  Journal Articles
• Cross-cultural perspectives on decision making regarding noninvasive prenatal testing: A comparative study of Lebanon and Quebec  Journal Articles
• DHCR7 and Smith-Lemli-Opitz syndrome.  Journal Articles
• De novo 1q32q44 duplication and distal 1q trisomy syndrome  Journal Articles
• Decision Analysis of Prenatal Testing for Chromosomal Disorders: What Do the Preferences of Pregnant Women Tell Us?  Journal Articles
• Development and preliminary validation of an indirect screener for drug use in the perinatal period  Journal Articles
• Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative  Journal Articles
• Diagnosis and management of congenital diaphragmatic hernia: a clinical practice guideline  Journal Articles
• Difficult prenatal diagnosis in mild Smith‐Lemli‐Opitz syndrome  Journal Articles
• Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis  Journal Articles
• Documentation of guideline adherence in antenatal records across maternal weight categories: a chart review  Journal Articles
• Economic evaluation of HIV screening in pregnant women attending antenatal clinics in India  Journal Articles
• Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women’s experiences  Journal Articles
• Feasibility of in ovo diffusion tractography in the chick embryo using a dual‐cooling technique  Journal Articles
• Femoral–facial syndrome: Prenatal diagnosis and clinical features. Report of three cases  Journal Articles
• Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation  Journal Articles
• Fetal and Neonatal Alloimmune Thrombocytopenia: Harvesting the Evidence to Develop a Clinical Approach to Management  Journal Articles
• Fetal renal failure associated with intrauterine growth retardation  Journal Articles
• Fibrochondrogenesis: Prenatal diagnosis and outcome  Journal Articles
• First trimester biochemical screening for Down syndrome: free beta hCG versus intact hCG  Journal Articles
• First-Trimester Screening for Trisomies 21 and 18  Journal Articles
• Follow-up evaluation of prenatally recognized vesicoureteric reflux  Journal Articles
• Frequency and clinical consequences of extremely high maternal serum PAPP‐A levels  Journal Articles
• Gastrointestinal duplications  Conferences
• Gastrointestinal duplications.  Journal Articles
• Genetic sonography after first‐trimester Down syndrome screening  Journal Articles
• Hemophilia in the 1990s: Principles of Management and Improved Access to Care  Journal Articles
• IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE  Journal Articles
• Identification of a novel β⁰ ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis  Journal Articles
• Imaging putative foetal cerebral blood oxygenation using susceptibility weighted imaging (SWI)  Journal Articles
• Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era  Journal Articles
• Impact of prenatal diagnosis on revised livebirth prevalence estimates of Down syndrome in the Lothian region of Scotland, 1978–1992  Journal Articles
• Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals’ views from Lebanon and Quebec  Journal Articles
• Implementing Publicly Funded Noninvasive Prenatal Testing for Fetal Aneuploidy in Ontario, Canada: Clinician Experiences With a Disruptive Technology  Journal Articles
• Influence of qualitative research on women's health screening guidelines.  Journal Articles
• Information-Sharing to Promote Informed Choice in Prenatal Screening in the Spirit of the SOGC Clinical Practice Guideline: A Proposal for an Alternative Model  Journal Articles
• Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries.  Journal Articles
• Introduction of non-invasive prenatal testing as a first-tier aneuploidy screening test: A survey among Dutch midwives about their role as counsellors  Journal Articles
• Life Course Pathways to Prenatal Maternal Stress  Journal Articles
• Low first‐trimester pregnancy‐associated plasma protein‐A and Cornelia de Lange syndrome  Journal Articles
• MR imaging of the fetal brain at 1.5T and 3.0T field strengths: comparing specific absorption rate (SAR) and image quality  Journal Articles
• MR venography of the fetal brain using susceptibility weighted imaging  Journal Articles
• MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis  Journal Articles
• Management of the Pregnant Patient with Idiopathic Thrombocytopenic Purpura  Journal Articles
• Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.  Journal Articles
• Measuring venous blood oxygenation in fetal brain using susceptibility‐weighted imaging  Journal Articles
• Medical Records and Women’s Self-Report Are Not Reliable Sources for Determining Whether Prenatal HIV Testing Was Done  Journal Articles
• Molecular genetic analysis of severe protein C deficiency.  Journal Articles
• Neonatal Thrombocytopenia Due to Passive Immunization  Journal Articles
• Neonatal alloimmune thrombocytopenia: Spontaneous in utero intracranial hemorrhage  Journal Articles
• Neonatal outcome of fetuses with urinary tract abnormalities diagnosed by prenatal ultrasonography.  Journal Articles
• Outcomes of haemoglobin Bart’s hydrops fetalis following intrauterine transfusion in Ontario, Canada  Journal Articles
• Pedagogical strategies in teaching invasive prenatal procedures: a scoping review protocol  Journal Articles
• Performance of antenatal imaging to predict placenta accreta spectrum degree of severity  Journal Articles
• Pericardial Hemangioma Presenting as Thoracic Mass in utero  Journal Articles
• Perinatally diagnosed asymptomatic congenital cystic adenomatoid malformation: to resect or not?  Conferences
• Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.  Journal Articles
• Perspectives of Pregnant People and Clinicians on Noninvasive Prenatal Testing: A Systematic Review and Qualitative Meta-synthesis.  Journal Articles
• Predicting stillbirths – still a distant reality  Journal Articles
• Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals  Journal Articles
• Preferences of women facing a prenatal diagnostic choice: long‐term outcomes matter most  Journal Articles
• Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada  Journal Articles
• Prenatal HIV Testing in Ontario  Journal Articles
• Prenatal HIV tests. Routine testing or informed choice?  Journal Articles
• Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies  Journal Articles
• Prenatal and immediate postnatal ultrasonographic diagnosis of ureterocele.  Journal Articles
• Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies  Journal Articles
• Prenatal diagnosis and postnatal outcome of fetal intracranial hemorrhage  Journal Articles
• Prenatal diagnosis by FISH of a 22q11 deletion in two families.  Journal Articles
• Prenatal diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS) by DHCR7 mutation analysis  Journal Articles
• Prenatal diagnosis of Turner's syndrome by ultrasonography.  Journal Articles
• Prenatal diagnosis of abnormally invasive placenta reduces maternal peripartum hemorrhage and morbidity  Journal Articles
• Prenatal diagnosis of bladder exstrophy by fetal MRI.  Journal Articles
• Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation  Journal Articles
• Prenatal diagnosis of split cord malformation by ultrasound and fetal magnetic resonance imaging: case report and review of the literature  Journal Articles
• Prenatal exclusion of β thalassaemia major by examination of maternal plasma  Journal Articles
• Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy  Journal Articles
• Prevalence and Genotypes of α- and β-Thalassemia Carriers in Hong Kong — Implications for Population Screening  Journal Articles
• Proceed with care: direct predictive testing for Huntington disease.  Journal Articles
• QF‐PCR rapid aneuploidy screen and aCGH analysis of cell free fetal (cff) DNA in supernatant of compromised amniotic fluids (AF)  Journal Articles
• Quantified scoring of the amniotic fluid surfactant foam test and assessment of factors contributing to false negative test results  Journal Articles
• RETIRED: Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities With Normal Karyotype  Journal Articles
• RETIRED: Prenatal Screening for Fetal Aneuploidy  Journal Articles
• RETIRED: Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada  Journal Articles
• Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome  Journal Articles
• Rationalizing the management of pregnancies of unknown location: Diagnostic accuracy of human chorionic gonadotropin ratio‐based decision tree compared with the risk prediction model M4  Journal Articles
• Reconciling ethical and economic conceptions of value in health policy using the capabilities approach: A qualitative investigation of Non-Invasive Prenatal Testing  Journal Articles
• Relevance to prenatal diagnosis of the identification of a human Y/autosome translocation by Y‐chromosome‐specific in situ hybridisation  Journal Articles
• Reliability of amniotic fluid volume estimation from ultrasonograms: Intraobserver and interobserver variation before and after the establishment of criteria  Journal Articles
• RhD status of a fetus at risk for haemolytic disease with a discrepant maternal DNA-based RhD genotype  Journal Articles
• Screening for depression in women during pregnancy or the first year postpartum and in the general adult population: a protocol for two systematic reviews to update a guideline of the Canadian Task Force on Preventive Health Care  Journal Articles
• Sequential Pathways of Testing After First-Trimester Screening for Trisomy 21  Journal Articles
• Simple non-invasive prenatal detection of Hb Bart's disease by analysis of fetal erythrocytes in maternal blood  Journal Articles
• Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.  Journal Articles
• The Intrauterine Diagnosis of Hemoglobin Disorders  Journal Articles
• The alpha-globin gene cluster: genetics and disorders.  Journal Articles
• The cost‐effectiveness of 10 antenatal syphilis screening and treatment approaches in Peru, Tanzania, and Zambia  Journal Articles
• The detection of mosaicism by prenatal BoBs™.  Journal Articles
• The effect of storage conditions on amniotic fluid phosphatidylglycerol concentration.  Journal Articles
• The impact of fetal screening on indications for cystourethrography in infants  Journal Articles
• The impact of socioeconomic factors on the efficiency of voluntary toxoplasmosis screening during pregnancy: a population-based study  Journal Articles
• The importance of indirect screening and objective gold standards: a response to Terplan (2012)  Journal Articles
• The influence of risk estimates obtained from maternal serum screening on amniocentesis rates  Journal Articles
• The management of asymptomatic congenital lung malformations  Journal Articles
• The multiple facets of pulmonary sequestration  Conferences
• The prenatal identification of fetal compatibility in neonatal alloimmune thrombocytopenia using amniotic fluid and variable number of tandem repeat (VNTR) analysis  Journal Articles
• The prenatal prediction of thrombocytopenia in infants of mothers with clinically diagnosed immune thrombocytopenia  Journal Articles
• The prevalence of anti‐K in Canadian prenatal patients  Journal Articles
• The role of religion in decision-making on antenatal screening of congenital anomalies: A qualitative study amongst Muslim Turkish origin immigrants  Journal Articles
• The safety of diagnostic ultrasonography.  Journal Articles
• The significance of intrauterine growth restriction is different from prematurity for the outcome of infants with gastroschisis  Journal Articles
• The usefulness of chromosome banding in pre‐ and postnatal service cytogenetics: A reconsideration  Journal Articles
• Third branchial cleft anomaly detected in utero.  Journal Articles
• Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings  Journal Articles
• Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature  Journal Articles
• Turner syndrome in adolescence  Journal Articles
• Turner syndrome in adolescence.  Journal Articles
• US and MRI findings of fetal dural sinus thrombosis: report of two cases  Journal Articles
• Use of a DNA Method, QF-PCR, in the Prenatal Diagnosis of Fetal Aneuploidies  Journal Articles
• What the Editors are reading – Fetal urology  Journal Articles
• α‐Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis  Journal Articles
• β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis  Journal Articles