antenatal screening for Downs syndrome

Prenatal congenital inguinal hernia is a rare condition, with limited cases reported in the literature. Accurate prenatal diagnosis is crucial for appropriate management and outcomes. We report a case of a 44-year-old woman at 36 weeks of gestation with well-controlled gestational diabetes diagnosed with prenatal congenital inguinal hernia. The patient's antenatal history included abnormal first-trimester screening tests for Down syndrome, but subsequent amniocentesis revealed no chromosomal abnormalities...

BACKGROUND AND OBJECTIVE: Down syndrome is the most common chromosomal anomaly found among newborns. Prenatal screening can inform pregnant women and their partners of the risk of their baby having Down syndrome. The study aimed to determine the awareness and attitude of Nigerian pregnant women towards prenatal screening for Down syndrome. METHODS: This was a prospective observational study among pregnant women who attended antenatal clinics at two teaching hospitals in Nigeria between January and June 2018...

BACKGROUND: With the COVID-19 pandemic, there was an increase and scaling up of provider-to-provider telemedicine programs that connect frontline health providers such as nurses and community health workers at primary care clinics with remote doctors at tertiary facilities to facilitate consultations for rural patients. Considering this new trend of increasing use of telemedicine, this study was conducted to generate evidence for patients, health providers, and policymakers to compare if provider-to-provider telemedicine-based care is equivalent to in-person care and is safe and acceptable in terms of diagnostic and treatment standards...

BACKGROUND: Analysis of cell-free DNA from maternal blood provides effective screening for trisomy 21 in singleton pregnancies. Data on cell-free DNA screening in twin gestations are promising although limited. In previous twin studies, cell-free DNA screening was primarily performed in the second trimester and many studies did not report chorionicity. OBJECTIVE: This study aimed to evaluate the screening performance of cell-free DNA for trisomy 21 in twin pregnancies in a large, diverse cohort...

Introduction Prenatal screening programs are important component for pregnant women care and is often linked with grief and shock based on gestational age or the diagnosis. Lower/ no sensitivity is also associated with these screening programs leading to providing false negative outputs. Case Presentation Present work shows a case of missed antenatal diagnosis of Down syndrome and its persistant medical and psychological impact on the family members. We have also discussed the relevant economic and medical-legal issues related to the context and aimed to maintain an adequate awareness among healthcare to discuss properly these investigations (difference between screening and diagnostic testing), their possible outcome (chances of false results) and enabled the pregnant women/couple to take informed decision on in early pregnancy...

Antenatal screening and diagnostic testing for Down syndrome has greatly advanced over the past 30 years. The goal of this manuscript is to provide a review of the availability and accessibility of prenatal services and selective termination policies across Europe, Australia, New Zealand, and the United States for the period 1990-2021. We collected data from academic peer-reviewed journals, governmental documents, not-for-profit organizations, correspondence with experts, and other online sources without language restrictions...

Background Non-invasive prenatal test (NIPT) is an intermediate step between serum screening and invasive diagnostic testing. It involves analysis of the cell-free fetal DNA (cffDNA) present in the maternal blood sample for determining the likelihood of fetal aneuploidy. Owing to its high sensitivity and specificity, NIPT has quickly gained popularity across the globe since its introduction to clinical practice, making it an attractive alternative to the available screening and diagnostic tests in use. Amniocentesis is currently the gold standard test for obtaining fetal DNA and diagnosing fetal trisomy prenatally, but it is invasive and has procedure-related adverse effects...

OBJECTIVE: To report results of the 2021 French National Perinatal Survey (ENP) in metropolitan France and assess trends in the main indicators of perinatal health, medical practices, and risk factors in France since 1995. POPULATION AND METHOD: All the samples included all women giving birth at a gestational age of at least 22 weeks of gestation and/or to an infant weighing at least 500 grams in all maternity units in metropolitan France during one week in 1995 (N=13 048), 2003 (N=14 324), 2010 (N=14 546), 2016 (N=12 553), and 2021 (N=12 088)...

The cell-free fetal DNA (cffDNA) analysis for screening fetal genetic anomalies has increased dramatically since its commercialization in 2011 worldwide. In the early weeks of pregnancy, it offers a hassle-free, non-invasive procedure of antenatal screening. It guides and protects mothers from undergoing unwanted risk-laden invasive prenatal testing. cffDNA testing is accurate at detecting the abnormal fetus chromosome among a large pool population. Patau syndrome, Edward syndrome, and Down syndrome are currently being accurately screened by this method...

These documents have been archived because they contain outdated information. They should not be consulted for clinical use, but for historical research only. Please visit the journal website for the most recent guidelines. The Use of Magnetic Resonance Imaging in the Obstetric Patient [J Obstet Gynaecol Can 36 (2014) 349-355] AUTHORS Yves Patenaude, MD, Sherbrooke, QC Denise Pugash, MD, Vancouver, BC Kenneth Lim, MD, Vancouver, BC Lucie Morin, MD, Montreal, QC The Role of Surgery in Endometrial Cancer [J Obstet Gynaecol Can 35 (2013) 370-371] AUTHORS Christopher Giede, MD, Saskatoon, SK Tien Le, MD, Ottawa, ON Patti Power, MD, St John's, NL Female Genital Cutting [J Obstet Gynaecol Can 35 (2013) 1028-1045] AUTHORS Liette Perron, MSW, Ottawa, ON Vyta Senikas, MD, Ottawa, ON Margaret Burnett, MD, Winnipeg, ON Victoria Davis, MD, Scarborough, ON Technical Update on Pessary Use [J Obstet Gynaecol Can 35 (2013) 664-674] AUTHORS Magali Robert, MD, Calgary, AB Jane A...

OBJECTIVE: To investigate preferences of pregnant women for the characteristics of prenatal testing, and to quantify their willingness-to-pay (WTP) for non-invasive prenatal testing (NIPT) as first-line screening for Down Syndrome. METHOD: A cross-sectional discrete choice experiment survey including five testing attributes was administered to 192 pregnant women (≤14 weeks' gestation) who were aged ≥21 years in Singapore. We calculated marginal WTP for improvements in testing characteristics and NIPT...

OBJECTIVE: To determine whether first- and second-trimester maternal serum biomarkers are useful for the prediction of pregnancy complications like preterm birth, intrauterine growth restriction (IUGR), and macrosomia. METHODS: We conducted a retrospective analysis of 353 women having first- or second-trimester combined test for Down syndrome screening who delivered at our institution between January 2018 and December 2020. Associations between first- and second-trimester serum markers and adverse pregnancy outcomes among those who underwent prenatal screening for Down syndrome in our clinic were studied...

BACKGROUND: Maternal serum free beta human chorionic gonadotrophin (free β-hCG) is used as a biomarker in first trimester screening for fetal Down's syndrome. Production of free β-hCG can occur in vitro in a time- and temperature-dependent manner; thus, the current Scottish screening protocol states samples must be received by the laboratory within 72 h. To assess the validity of the protocol, an audit was conducted to determine the impact of transit time on maternal serum free β-hCG multiple of median (MoM) values in the Scottish screened population...

Hemoglobin (Hb) Bart's hydrops fetalis is the most severe form of α-thalassemia and is usually inherited in an autosomal recessive manner. We report a case of Hb Bart's hydrops fetalis due to uniparental disomy of chromosome 16. Antenatal screening showed a low maternal mean corpuscular volume (MCV), while paternal MCV was normal. The fetus was found to have a thickened nuchal translucency during first trimester screening for Down's syndrome. Mid-trimester fetal anomaly ultrasound scan showed fetal cardiomegaly with pericardial effusion, scalp edema, ascites and an elevated middle cerebral arterial peak systolic velocity (MCA PSV)...

BACKGROUND: Down syndrome (DS) is the most common human chromosomal abnormality. About 1200 laboratories carry out antenatal screening for DS in second trimester pregnancies in China. Their prenatal assessment of DS pregnancy risk is based on biometric calculations conducted on maternal serum biochemical markers and ultrasonic markers of fetal growth. However, the performance of this triple test for DS in second trimester pregnancies has a false positive rate of 5%, and a detection rate of about 60%∼65%...

OBJECTIVE: To assess trends in the average costs and effectiveness of the French ultrasound screening programme for birth defects. DESIGN: A population-based study. SETTING: National Public Health Insurance claim database. PARTICIPANTS: All pregnant women in the 'Echantillon Généraliste des Bénéficiaires', a permanent representative sample of 1/97 of the individuals covered by the French Health Insurance System. MAIN OUTCOMES MEASURES: Trends in the costs and in the average cost-effectiveness ratio (ACER) of the screening programme (in € per case detected antenatally), per year, between 2006 and 2014...

OBJECTIVE: To determine whether the improved precision of nuchal translucency (NT) measurement used in antenatal screening for Down's syndrome observed over time as evidenced by a decrease in the multiple of the median (MoM) standard deviation requires a modification to the NT MoM truncation limits to maintain accurate risk estimation. METHODS: Probability plots were derived from the measurements of NT MoM values used in a 2018 audit of 22,362 unaffected pregnancies...

OBJECTIVES: The aim of the study was to analyze the correlation of multiples of the normal median of PAPP-A, free β-hCG levels and nuchal translucency values in prenatal, first trimester screening of trisomy 21 in pregnant women. MATERIAL AND METHODS: 251 pregnant women underwent antenatal screening at 11-13+6 weeks of pregnancy which was composed of the measurement of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein (PAPP-A) levels in the maternal serum and an ultrasound assessment of nuchal translucency (NT)...

Importance: Noninvasive prenatal testing (NIPT) using cell-free DNA in maternal blood is increasingly common compared with invasive testing (IT) in routine antenatal detection of Down syndrome (DS). Objective: To assess attitudes and decision making in pregnant women facing a risk of fetal DS greater than 1 in 250 as established by combined first trimester screening at 11 to 14 weeks of gestation. Design, Setting, and Participants: Survey study in which data were collected from pregnant women at high risk of fetal DS participating in a randomized clinical trial...

Background: DNA-based non-invasive prenatal testing (NIPT) using maternal blood constitutes an emerging technology for the detection of Down syndrome (DS). The aim of the study was to conduct a cost-effectiveness analysis to evaluate the economic costs and health implications of the introduction of NIPT based on cell-free foetal DNA analysis through different screening strategies for the detection of DS. Methods: An analytical short-term decision model was developed, from the payer´s perspective (Spanish National Health Service)...