Down Syndrome Screening Research Articles

Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid Metabolomics.

Down syndrome (DS) is a congenital disorder caused by the presence of an extra copy of all or part of chromosome 21. It is characterized by significant intellectual disability, distinct facial features, and growth and developmental challenges. The utilization of metabolomics to analyze specific metabolic markers in maternal amniotic fluid may provide innovative tools and screening methods for investigating the early pathophysiology of trisomy 21 at the functional level. Amniotic fluid samples were obtained via amniocentesis from 57 pregnancies with DS and 55 control pregnancies between 173/7 and 240/7weeks of gestation. The targeted metabolomics focused on 34 organic acids, 17 amino acids, and 5 acylcarnitine metabolites. The untargeted metabolomics analysis concentrated on lipid profiles and included 602 metabolites that met quality control standards. Principal Component Analysis, Orthogonal Partial Least Squares Discriminant Analysis (OPLS-DA), and false discovery rate (FDR) adjustments were applied. MetaboAnalystR 5.0 was used to perform the metabolic pathway analysis on the identified differential metabolites. Fifty differential metabolites, including L-glutamine, eight organic acids, and 41 lipids, were significantly altered in DS based on three criteria: VIP > 1 in the OPLS-DA model, FDR-adjusted p-value < 0.05, and |log2FC|>log2(1.5) from a volcano plot of all detected metabolites. An analysis of 212 differential metabolites, selected from both targeted and untargeted approaches (VIP > 1 in the OPLS-DA model and FDR-adjusted p-value < 0.05), revealed significant changes in nine metabolic pathways. Fourteen key metabolites were identified to establish a screening model for DS, achieving an area under the curve of 1.00. Our results underscore the potential of metabolomics approaches in identifying concise and reliable biomarker combinations that demonstrate promising screening performance in DS.

Clinical strategy study on prenatal screening and diagnostic model for Down syndrome

Exploring efficient and easily implementable prenatal screening strategies aims at birth defect prevention and control. However, there have been limited economic evaluations of non-invasive prenatal screening (NIPS) strategies in China. Furthermore, these studies were predominantly confined to local or geographically proximate provinces and lacked universality and representativeness. This study assesses the health economics of current prenatal screening strategies and NIPS as first-line screening programs, analyzing their efficacy to determine an optimal strategy. From the perspective of health economics, cost-effectiveness, cost-benefit, and single-factor sensitivity were conducted for five different screening strategies using a decision tree model. Among pregnant women aged < 35 years who underwent only one screening for foetal Down syndrome (DS), the detection rate, false positive rate and positive predictive value of NIPS for foetuses with DS were superior to those of the other four serological screening methods. Although applying NIPS as first-line screening method yields the highest efficacy and benefits, it currently lacks cost-effectiveness when compared to serological screening and sequential NIPS screening strategies.

Exploring free pregnancy associated plasma protein a (fPAPP-A) as a biomarker in early pregnancy

ObjectivesIn combined first trimester screening for Down syndrome, Pregnancy-Associated Plasma Protein A (PAPP-A) is pivotal. PAPP-A tests evaluate total PAPP-A, consisting of the biologically active free PAPP-A (fPAPP-A) and PAPP-A complexed with eosinophil major basic protein's proform (proMBP). While PAPP-A is well-researched, limited understanding persists regarding fPAPP-A's first trimester concentrations and diagnostic utility. Designand methods: PAPP-A and fPAPP-A levels were gauged in 602 serum samples at 2-week intervals (gestational weeks 4–14) from 159 women with delivery of a healthy neonate and 80 samples from 37 miscarriages. The final sample at the time of diagnosis from women who miscarried was included in analyses. ResultsDuring the first trimester, PAPP-A and fPAPP-A levels displayed significant and strong correlation (r = 0.94), with median values doubling weekly. Free PAPP-A constituted only 3.0 % of PAPP-A over gestational weeks. Low fPAPP-A linked to miscarriage (p < 0.001), maternal weight (p < 0.001), and smoking (p = 0.02). For miscarriage prediction fPAPP-A was equal to PAPP-A (area under the receiver operating characteristics curve 0.79 vs. 0.81, p = 0.44). ConclusionsInvestigating fPAPP-A presence and concentration directly in first trimester serum has not been done previously. This study report lower fPAPP-A values than anticipated from prior enzymatic studies of fPAPP-A. fPAPP-A was not superior to PAPP-A as a first trimester biomarker in this dataset.

Awareness of down syndrome screening among educated Muslim women is associated with a favorable attitude toward testing

ObjectiveThere is a general assumption that Muslim women refuse Down syndrome screening, and therefore, many health practitioners do not offer it or briefly discuss it with their participants. This study aims to objectively assess women’s awareness, knowledge, and attitudes toward Down Syndrome screening (D.S.S) in a Muslim-majority population.MethodsWe conducted a cross-sectional study among attendees of antenatal clinics at a major university hospital in Saudi Arabia, aiming for a sample size of at least 385 Muslim women. A semi-structured questionnaire assessed awareness of different D.S.S. options and the source of that information (2 items), specific knowledge of D.S.S. (14 items), and attitudes (4 items). The knowledge and attitudes scores were calculated using a five-level agreement Likert-type scale.ResultsAmong 434 participants, with an even distribution among all age groups and a majority of a college degree holder or higher (71%), 178 (41.0%) reported awareness of D.S.S. Factors associated with increased awareness were maternal age above 40 or those under 30, nulliparity, and extended family history of fetal congenital anomalies (P-value = 0.03,0.015, and 0.017, respectively). Recognized tests were ultrasound measurement of nuchal translucency (71.9%) and first-trimester serum screening (58.4%). The sources of knowledge were obstetricians (53.9%), followed by family and friends (27.0%). The overall mean ± SD knowledge score was 53.9 ± 8.7 out of 70, and the mean attitude score was 17.4 ± 2.9 out of 20. Having 1 or 2 children is associated with a higher knowledge score, and most participants who reported awareness of D.S.S. (51.7%) had a favorable attitude toward screening.ConclusionAwareness of D.S.S. among Muslim women is associated with favorable attitudes towards testing, contradicting the general assumption and highlighting the need for systematic education to increase awareness and subsequent testing uptake.

Applying machine learning in screening for Down Syndrome in both trimesters for diverse healthcare scenarios

BackgroundThis paper describes the development of low-cost, effective, non-invasive machine learning-based prediction models for Down Syndrome in the first two trimesters of pregnancy in Vietnam. These models are adaptable to different situations with limited screening capacities at community-based healthcare facilities. MethodUltrasound and biochemical testing alone and in combination, from both trimesters were employed to build prediction models based on k-Nearest Neighbor, Support Vector Machine, Random Forest, and Extreme Gradient Boosting algorithms. ResultsA total of 7,076 pregnant women from a single site in Northern Vietnam were included, and 1,035 had a fetus with Down Syndrome. Combined ultrasound and biochemical testing were required to achieve the highest accuracy in trimester 2, while models based only on biochemical testing performed as well as models based on combined testing during trimester 1. In trimester 1, Extreme Gradient Boosting produced the best model with 94% accuracy and 88% AUC, while Support Vector Machine produced the best model in trimester 2 with 89% accuracy and 84% AUC. ConclusionsThis study explored a range of machine learning models under different testing scenarios. Findings point to the potential feasibility of national screening, especially in settings without enough equipment and specialists, after additional model validation and fine tuning is performed.

Insights Into Down Syndrome Screening and Diagnostic Test Preferences Among Pregnant Women: Findings from a Cross-Sectional Study in Vietnam

Background: Screening for Down syndrome (DS) conducted in the first trimester provides essential information for expectant parents and healthcare providers to make informed decisions about further diagnostic testing and potential interventions. Objectives: This study aimed to explore the preferences and influential factors for subsequent screening and diagnostic tests among Vietnamese women at risk for DS, including non-invasive prenatal testing (NIPT) and amniocentesis. Methods: A cross-sectional study was conducted from January 2022 to January 2023 with 125 pregnant women selected through convenience sampling at a public hospital in Vietnam. Data were collected from standardized medical records and analysis forms for each participant who underwent first-trimester Double test screening at the healthcare center. Participants were stratified by DS risk thresholds ranging from 1/51 to 1/1000. Chi-square and Fisher's exact tests were used to compare the acceptance rate of screening tests between groups. Logistic regression was utilized to explore factors related to participants' preferences. Results: The majority (71.2%) of participants were under 35 years old. The prevalence of consenting to further tests was 69.7% in the high-risk group (95% CI: [54.02%, 85.38%]) and 67.4% in the moderate-risk group (95% CI: [57.81%, 76.97%]), with all participants in the moderate-risk group selecting NIPT. In the high-risk group, 65.22% preferred NIPT and 34.78% chose amniocentesis. The key reasons for declining further testing included a preference for ultrasound monitoring (70%), financial constraints (7.5%), and religious beliefs (10%). Chi-square analysis indicated a statistically significant variation in diagnostic test selection by age group, with younger women more likely to choose NIPT (P &lt; 0.0001). Conclusions: There is a marked preference for NIPT over invasive methods, especially among younger moderately risk women. These results emphasize the need for individualized counseling and education, as well as increased support for noninvasive testing options through healthcare policy and insurance coverage.

Significance of Mid-Pregnancy Down Syndrome Risk Screening in Predicting Adverse Maternal and Fetal Outcomes

Objective: To investigate the value of mid-pregnancy Down syndrome risk screening in predicting adverse maternal and fetal outcomes. Methods: 536 mothers who underwent mid-pregnancy screening for Down syndrome at Chengyang District Maternal and Child Healthcare and Family Planning Service Center from January 2021 to December 2022 were selected for retrospective analysis. The risk was calculated using the Asian population database in the American prenatal screening software PRISCA 4.0, combined with the age, gestational week, and body mass of the day of the pregnant women's blood collection. Results: The screening results showed that there were 469, 54, and 13 cases in the low-risk, critical-risk, and high-risk groups, respectively, and there were no statistically significant differences in the age and body mass of each group (P &gt; 0.05). However, there was a significant difference between the adverse fetal outcomes in low-risk, critical-risk, and high-risk groups (P &lt; 0.05); and the screening results showed that there was a significant difference between the adverse maternal outcomes in the low-risk, critical-risk, and high-risk groups (P &lt; 0.05). Conclusion: There is a relationship between the high risk of Down syndrome detected through screening and adverse maternal and fetal outcomes. Besides, the false positive and negative rates of Down syndrome screening results are positively correlated with adverse maternal and fetal outcomes.

Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines.

This aim of this study was to detail maternal and fetal anomalies observed on a national scale in a large French cohort of patients presenting high hCG values (≥10 multiple of the median [MoM]) at Down syndrome screening in order to define clear and optimal guidelines. This is a retrospective multicenter study based on a French annual database of all trisomy 21 screenings. Our study targeted and studied cases with hCG or hCGβ values ≥10 MoM. Complementary exams and outcomes were analyzed. The calculated frequency was 0.05% for hCGβ ≥10 MoM in unselected patients. For this series of 289 cases, a complication of the pregnancy or a poor outcome was observed in 145 cases (51%) as follows: 96 (66%) cases of fetal disease, 23 (16%) of maternal disease, 5 (3.5%) of placental anomalies and 21 (14.5%) of systemic disease concerning mother, fetus and placenta. This study establishes the frequency of hCG or hCGβ values ≥10 MoM, presents a flow chart that optimizes follow-up, and gives clear information for patients presenting with such abnormal values at trisomy 21 screening.

Prenatal Screening and Diagnosis: Time for a Paradigm Shift.

Recent advances in genetics and imaging have ushered substantial breakthroughs in screening and diagnosis for chromosomal and structural abnormalities. Thus, it is imperative that health care providers caring for pregnant individuals should reexamine established practices in prenatal screening and diagnosis. In the past, screening for chromosomal abnormalities was based almost entirely on Down syndrome. Pregnant individuals aged > 35 years were considered at "high risk" or of "advanced maternal age" based on age alone; however, the advent of tests with high sensitivity for prenatal detection of chromosomal abnormalities should lead to abandoning that concept, at least from the perspective of chromosomal abnormalities. Given that first-trimester and second-trimester screenings will fail to detect between 5 and 20% of Down syndrome, in most situations, noninvasive testing with cell-free DNA should be the first-line screen for Down syndrome. The fact that over 99% of fetuses with Down syndrome will be detected prenatally with cell-free DNA gives other fetal chromosomal and structural abnormalities increasing prominence. Chromosomal microarray analysis (CMA) permits prenatal detection of several clinically important chromosomal aberrations that cannot be detected by karyotype and may exist in structurally normal fetuses with low-risk cell-free DNA screening. As such, CMA should be more readily conducted when invasive testing is performed, regardless of the presence of a structural abnormality. Isolated sonographic "soft markers" have no clinical significance in patients who have normal cell-free DNA screening, can cause unwarranted anxiety and a negative impact on pregnancy, and perhaps it is time to stop discussing them. Detailed first-trimester ultrasound allows early detection of several severe fetal anomalies and, therefore, in settings with adequately trained personnel and resources, should be used more frequently. This opinion traces the evolution of prenatal screening and diagnosis and advocates for a paradigm shift that aligns with recent developments in prenatal screening and diagnostic capabilities. KEY POINTS: · Noninvasive prenatal testing with cell-free DNA should be available to all pregnant individuals.. · Chromosomal microarray should be available to all pregnant individuals undergoing amniocentesis.. · Patients >35 years with low-risk screening are not at "high risk" for chromosomal abnormalities..

Asymmetric Schottky Barrier-Generated MoS2/WTe2 FET Biosensor Based on a Rectified Signal.

Field-effect transistor (FET) biosensors can be used to measure the charge information carried by biomolecules. However, insurmountable hysteresis in the long-term and large-range transfer characteristic curve exists and affects the measurements. Noise signal, caused by the interference coefficient of external factors, may destroy the quantitative analysis of trace targets in complex biological systems. In this report, a "rectified signal" in the output characteristic curve, instead of the "absolute value signal" in the transfer characteristic curve, is obtained and analyzed to solve these problems. The proposed asymmetric Schottky barrier-generated MoS2/WTe2 FET biosensor achieved a 105 rectified signal, sufficient reliability and stability (maintained for 60 days), ultra-sensitive detection (10 aM) of the Down syndrome-related DYRK1A gene, and excellent specificity in base recognition. This biosensor with a response range of 10 aM-100 pM has significant application potential in the screening and rapid diagnosis of Down syndrome.

The effect of cognitive behavioral counseling on anxiety and worry level of women with intermediate risk during first trimester screening for down syndrome: a randomized controlled trial: a randomized controlled trial

BackgroundAnxiety related to prenatal screening programs negatively affects maternal and child health.ObjectiveThe study aimed to determine the effect of Cognitive Behavioral Counseling on the anxiety and worry levels of women with intermediate risk during first-trimester screening for Down Syndrome.MethodsThe study was a randomized controlled trial conducted on 52 pregnant women with intermediate risk (1: 51 − 1:1500) during first-trimester screening for Down Syndrome and without additional structural anomalies that referred to three cities of Zanjan province in 2021. The eligible women were randomly assigned to intervention and control groups, with a block size of four. The intervention group received CBC in four sessions of 120 min two times a week by phone. Data were collected using Vandenberg Anxiety Questionnaire, and Cambridge Worry Questionnaire in three phases baseline, after the intervention, and 6 weeks follow-ups. Data were analyzed using independent t-test, chi-square, and repeated measures ANOVA at a 95% confidence level. (P < 0.05).ResultsIn the counselling group, the mean (SD) of a total score of anxiety before the intervention was 67.11 (20.68) which decreased to 32.50 (13.58) in six weeks after the intervention. Furthermore, the mean (SD) of a total score of worry before the intervention was 56.19 (16.76) which decreased to 32.96 (8.89) six weeks after the intervention. Based on the repeated measures ANOVA test, the mean total score of anxiety and worry were statistically significant 6 weeks after the intervention compared with the control group(p < 0.001).ConclusionBased on the study results, CBC can reduce the anxiety and worry levels of women with intermediate risk during first trimester screening for Down Syndrome.Trial registrationThe study was registered at the Iranian Registry of Clinical Trials website under the code IRCT20160608028352N8, (https://en.irct.ir/trial/49998). The first trial registration date was (29/08/2020).

The effect of a prior e-learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.

Genetic counseling (GC) following abnormal Down syndrome (DS) screening tests aims to ensure learning of complex medical concepts and discussion of counselees' personal desires. Pre-GC use of electronic learning tools (e-learning tools) can facilitate GC sessions by allowing more time for dialogue rather than learning medical and genetic concepts, enabling greater focus on the counselee's decisional, psychological, and personal needs. Few studies have investigated such tools for DS screening tests and those who have focused on screening uptake rather than abnormal results and implications. This study evaluated prenatal GC outcomes following implementation of an e-learning tool utilizing an educational animated movie for couples of varied ethnic backgrounds in northern Israel, with abnormal DS screening tests. E-learning tool impact was assessed as knowledge level, informed choices, satisfaction with the intervention and GC process, the state of anxiety and duration of the GC meeting. The 321 study participants were randomized to three groups: animation movie, booklet, and control. All participants had been asked to complete pre- and post-counseling questionnaires. Outcome scores were compared between the research groups. Results showed increased knowledge level in general among participants in the animation group; among minority participants, the highest knowledge level was in the animation group. Anxiety levels and informed choices were not statistically different among the groups. However, watching the animation, Jewish ethnicity, good level of genetic literacy, and academic degree were significant predictors of informed choice, and those who watched the animation were three times more likely to make an informed choice than the control group. Our findings suggest that this e-learning tool is efficient and acceptable for the general population. Special attention is needed for minorities with lower genetic literacy and education.

Trisomy 21 Testing in Second Trimester: Reliability Comparison of Triple and Quadruple Testing in Pakistan

Objectives: Down syndrome is a disorder that affects one in every 700 babies born, and it is one of the most frequent causes of developmental delay (DS). In Pakistan, prenatal screening for Down syndrome is not being practised according to any approved protocol. The biochemical screening that takes place during the second trimester is still carried out using the triple test. Although the quadruple test has a better sensitivity and specificity than other diagnostic methods, its usage in routine medical settings is not advised. The purpose of this study was to explore the second trimester screening for trisomy 21 (quadruple test with genetic sonogram) in order to determine its sensitivity and accuracy in comparison to biochemical testing. Place of Study: District Headquarters Hospital, Gujranwala Duration of Study: January 2021 to December 2021 Methods: This retrospective observational study was carried out in a Fetal Medicine Centre with the purpose of analysing the odds of being affected with Down syndrome, given a positive risk (OAPR) upon screening in the quadruple test; triple test and quadruple test plus a genetic sonogram for highrisk singleton pregnancies (in view of advanced maternal age; an anomaly scan showing some abnormality, etc.). Given the presence of a positive risk factor, the goal of this study was to ascertain the likelihood of having a child impacted by Down syndrome. Practical Implication: To explore the second trimester screening for trisomy 21 (quadruple test with genetic sonogram) in order to determine its sensitivity and accuracy in comparison to biochemical testing. Results: The discovery of trisomies was made after an investigation into 3,042 highrisk pregnancies with a singleton baby. 327 pregnant women who have received positive findings from a triple test, quadruple test, or quadruple test in addition to a genetic ultrasonography opt to have an amniocentesis. This decision was made after the ladies learned that their unborn child may have a genetic disorder. It was discovered that 20 of the developing babies were affected by Down syndrome. The OAPR for the quadruple test was demonstrated to be significantly higher when compared to the OAPR for the triple test (1:29.1 as compared to 1:39.2). It was found that the combination of the triple test and the genetic sonogram had the highest OAPR of 1:7. Conclusions: The triple test combined with a genetic sonogram is the most effective tool for screening for trisomy 21, and it has the potential to cut down on the number of unnecessary amniocentesis operations carried out in high-risk populations. Keywords: Down syndrome, genetic, quadruples test, second trimester screening, triple test,ultrasound

Performance of Serum Quad Test in Screening for Fetal Down Syndrome in a Large-Scale Unselected Population in a Developing Country.

Objective: To assess the effectiveness of Quad test in the detection of Down syndrome (DS) in routine practice among a large-scale population and to compare the effectiveness of Quad test based on the Western reference model (WM) and that based on Thai reference model (TM). Methods: Quad test was performed on 42,769 pregnancies at 14-21weeks. The fetal risk of DS derived from Quad test was automatically computed based on WM and used in evaluating the effectiveness. Also, the fetal risk was calculated based on the TM. Results: Of 39,740 women with complete follow-ups including 74 fetuses with DS, with WM, the detection and false positive rates were 81.1% and 7.2%, respectively, whereas the detection and false positive rates with TM were 87.8%, and 6.8%, respectively. According to ROC curves, the performance of Quad test based on TM was slightly but significantly better than that based on WM (AUC of 0.959 vs. 0.940, p = 0.001). Conclusion: Quad test is highly effective in service settings and suitable for developing countries and the effectiveness is even higher when based on ethnicity-specific reference model.

First-trimester screening for Down syndrome using quadruple maternal biochemical markers.

Placental growth factor (PlGF) is used for first-trimester preeclampsia screening and could be combined with other biochemical markers for Down syndrome screening. We aim to estimate the predictive value of the combination of pregnancy-associated plasma protein (PAPP-A), free β-human chorionic gonadotropin (free β-hCG), placental growth factor (PlGF) and α-fetoprotein (AFP) with and without nuchal translucency. Singleton pregnancies recruited at 11-14weeks and followed until delivery. The four maternal markers were measured using Kryptor (ThermoFisher-BRAHMS) and adjusted for gestational age and maternal characteristics. The risk of Down syndrome was calculated using the Fetal Medicine Foundation algorithm and multivariate linear regression analyses in all cases and in 2,200 controls. Receiver-operator characteristic (ROC) curves were used to calculate the detection and false-positive rates. Twenty-six (0.2%) cases of Down syndrome were diagnosed among 13,386 participants. The combination of the four biomarkers could have detected 88% (95% CI: 72-97%) of the cases at a false-positive rate of 13% (95% CI: 12-15%). The addition of nuchal translucency would have increased the detection rate to 96% (95% CI: 82-99%) at a false-positive rate of 4% (95% CI: 4-5%) using a 1:300 cut-off and to 100% (95% CI: 89-100%) at a false-positive rate of 6% (95% CI: 5-8%) using a 1:500 cut-off. First-trimester screening using biochemical markers allows the identification of approximately 88% of Down syndrome cases for a false-positive rate of 13%. The addition of nuchal translucency raises the detection rate above 95% with a false-positive rate below 5%.

Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021.

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. Prenatal screening services from 1990-2021 became increasingly available across countries, enabling expectant couples the opportunity to gain more accurate information earlier in the pregnancy before assuming the risk associated with more invasive techniques like CVS or amniocentesis. Many countries also began adopting prenatal screening as a qualification for prenatal diagnosis. As of 2021, at least 76.9% of countries offered full coverage for diagnostic testing for Down syndrome from government funding. Abortion coverage for a Down syndrome diagnosis was covered fully by government funding in 52.4% of countries in 1990, increasing to 73.8% in 2021. Understanding the changing landscape of prenatal services builds the foundation for future investigation into social policies that affect the prevalence of Down syndrome.

Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome.

Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity. A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone. Repeat evaluations were offered. Of 6780 FTS sonograms, 589 (8.7%) had an absent/uncertain nasal bone. Upon repeat exam, 268/376 (71.3%) had a present nasal bone. Compared with Black patients, patients of other ethnicities were more likely to have a present nasal bone on exam 2 (P < .00001). Of 268 patients with a present nasal bone on exam 2, 37 (13.8%) had an abnormal DS risk following exam 1; 34/37 (91.9%) normalized following nasal bone visualization, dropping the screen positive rate to 1.1%. Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.

Down syndrome and its screening: knowledge, attitude and practice among pregnant women in Patan Hospital

Introduction: Down syndrome (DS) is the most common cause of intellectual disability among live born children which can be detected prenatally. This study aims to assess the knowledge attitude and practice of pregnant women about Down syndrome and its available prenatal diagnosis.&#x0D; &#x0D; Method: A study was conducted in Department of Obstetrics and Gynecology of Patan Academy of Health Sciences in 2021.All pregnant ladies who attended the antenatal clinic received a self-administered validated questionnaire to determine their knowledge of Down syndrome, its screening test and willingness to do prenatal testing.&#x0D; &#x0D; Result: Majority of the participants (88%) belonged to age group of 18 to 35 years.59% were primigravidas. Almost 90% were Hindus and 55% had graduate level education. More than half of the participants had poor knowledge of DS and 60 % had no idea regarding the screening tests. However, more than half (56%) of them were willing to undergo screening for DS. One fifth of the women did not want to continue the pregnancy if baby had DS. Higher income is significantly associated with good knowledge in both domain (knowledge about DS, and knowledge about its screening). Illiterates are found to have better knowledge than educated group which seems a bit contradictory, but this might have been due to our smaller sample size.&#x0D; &#x0D; Conclusion: There is a significant gap between women’s knowledge and their attitudes and practice, which has to be addressed with local and national policies and protocols. Informed decision making should be the norm after empowering pregnant women with knowledge.

Willingness to Pay for Down Syndrome Screening: A systematics Review.

Background:Financial ability to pay has a unique role in the accessibility of health care services, which indicates the necessity of raising enough funds by governments. However, how much households are willing to pay (WTP) for receiving a particular service? And what factors influence their WTP? The current systematic review aimed to, firstly, review studies on the WTP for Down syndrome (DS) screening, and, secondly, to identify factors that affect WTP for DS screening. Methods:We systematically searched the Scopus, PubMed, Web of Sciences (ISI), and Embase databases to identify relevant studies from their inception to June 2020; the search strategy was updated on December 2021. Initially, 157 articles were identified, and 5 were found eligible for full-text review. In event of any disagreement, a third reviewer was used. Extracted WTPs were converted to US dollars in 2018 using exchange rate parity and the present value formula to make a comparison. The quality assessment of the selected studies was done using the "Lancsar and Louvier" and Smith checklist; also, vote counting was used to assess the influence of factors. Results:Five eligible studies, published from 2005 to 2020, were fully reviewed. All final studies were scored as good quality. The extracted WTPs varied from $169 to $1118 in UK and Canada, respectively. Income and information/knowledge about screening tests were the most frequently investigated factors. Education level, detection rate, women's age, cost, and family history were significantly associated with higher levels of WTP for DS screening. Conclusion:This study demonstrated a significant gap in WTP for DS screening in various countries. Women are WTP higher costs for tests with higher screenings. Also, a unique role was identified for income, occupation, information, and family history of DS in WTP for DS screening. In addition, a positive association was found for the variable of age.

Results of the 2021 French National Perinatal Survey and trends in perinatal health in metropolitan France since 1995

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. 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=13048), 2003 (N=14324), 2010 (N=14546), 2016 (N=12553), and 2021 (N=12088). The data came from postpartum interviews of the women at the hospital and their medical records. Comparisons between surveys showed trends over time. Between 1995 and 2021, maternal characteristics changed. Maternal age and the frequency of women with obesity rose: in 2021, 24.6% of women were 35 years or older (21.1% in 2016, 19.2% in 2010, 15.9% in 2003 and 12.4% in 1995) and 14.4% were obese (11.8% in 2016, 9.9% in 2010 and 7.4% in 2003). Some antenatal prevention behaviors that improved in 2021 were not smoking during the third trimester, acid folic administration before pregnancy, and vaccination against influenza. The percentage of women with an early prenatal appointment ("4th month appointment"), implemented to facilitate screening of maternal vulnerability during pregnancy, has continued to rise. The percentage of women receiving prenatal care by midwives has risen markedly (39.0% in 2021 versus 11.7% in 2016). Serum screening for Down syndrome continues to increase (91.8% of women in 2021). The rate of induction of labor has risen significantly (20.2% in 1995 and 25.8% in 2021). The mode of delivery has not varied significantly since 2003; in 2021, the cesarean rate was 21.4% and the instrumental vaginal delivery rate 12.4%. Episiotomy was increasingly rare, among both primiparous and multiparous women (16.5% and 2.9% in 2021, respectively). The prevalence of coronavirus (SARS-CoV2) infection during pregnancy was 5.7%. Preterm live births increased regularly, slightly but significantly over the 1995-2016 period and then remained stable between 2016 and 2021 (7.0%). In 2021, 56.3% of women exclusively breastfed during their hospital stay, a modest increase in comparison with 2016 (54.6%). Routine national perinatal surveys highlight positive trends over time in some preventive practices, decreases in some medical interventions consistent with national guidelines, and the increasing role of midwives in prenatal care. Nonetheless, some indicators remain less than optimal and require more detailed analyses.