UNASSIGNED: Maternal serum sample screening in the first and second trimesters has been commonly used to identify women who are at risk of fetal trisomy 21. In addition, these serum markers are associated with adverse perinatal outcomes. Hence, the present study was conducted to determine the relationship between false positive screening results of Down syndrome and adverse pregnancy outcomes.
UNASSIGNED: This prospective, two-group, cohort study was conducted on 608 pregnant women who had undergone fetal contingent screening. They were selected through convenience sampling in the twentieth week of pregnancy and were followed up until delivery. The raw Odd Ratios (OR), Relative Risk (RR), and adjusted OR of adverse pregnancy outcomes were calculated in the false positive and true negative groups.
UNASSIGNED: The adjusted OR of developing preeclampsia was 1.98 (95%CI: 1.14-3.42), and its RR was 2.13 (95%CI: 1.34-3.38) times higher in the false positive group. Moreover, the adjusted OR of Small for Gestational Age (SGA) was 2.80 (95%CI: 1.76-4.47), and its RR was 2.28 (95%CI: 1.54-3.36) times higher in the false positive group. The adjusted OR of Low Birth Weight (LBW) was 3.34 (95%CI: 1.97-5.64), and its RR was 2.65 (95%CI: 1.72-4.11) times higher in the false positive group. In addition, no significant difference was observed between false positive and true negative groups in terms of preterm birth.
UNASSIGNED: Women with a false positive fetal screening test result are more likely to suffer from preeclampsia, SGA, and LBW and require planned prenatal care.

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.

OBJECTIVE: Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity.
METHODS: 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.
RESULTS: 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%.
CONCLUSIONS: Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.

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.

We compare the risk of Down syndrome among five patients carrying a foetus with digynic triploidy and suggest a course of action for these particular serological profiles.
The concentrations of the different markers used are transformed into multiples of the median by using each of the three software types present on the French market which then determine the risk of Down syndrome.
For comparable biochemical and ultrasound profiles, the risk of Down syndrome turns out to be vastly different depending on the type of software employed. The relevance of an immediate diagnostic procedure, of a cell free DNA test or of a basic ultrasound follow-up then arises, leading to a potentially variable care pathway for the patient.
This study confirms that for this type of biochemical profile, the laboratory\'s advisory service is fundamental, that a control ultrasound is essential and that an invasive procedure must be used almost invariably due to the extremely substantial risk factors.

The objective of our survey was to evaluate the anxiety experienced by women receiving abnormal results of prenatal Down syndrome screening by an electronic anonymous survey. Anxiety level was evaluated by a six-item Spielberger State-Trait Anxiety Inventory. Of 559 respondents, high anxiety scores were reported in the majority (86.0%). Higher anxiety scores were noted in women informed of the abnormal result by the caregiver vs. written answer. 59.1% of the respondents preferred the risk reported as percentage, while only 4.4% gave precedence to the current form (e.g. 1 in 100). The participants noted several factors which could relieve their anxiety, including an explanatory booklet (72.4%) or a website (77.9%). In conclusion, women receiving abnormal results of Down syndrome screening experience significant anxiety. Efforts should be made to relieve this distress, including changing the historical ratio risk format to percentage, adding a non-directive verbal annotation, an explanatory website and improving health professionals\' understanding of the exact statistical meaning of the risk.Impact statementWhat is already known on this subject? Abnormal results of prenatal screening for Down syndrome might cause the women significant anxiety. Several simple methods are able to relieve this distress; however, they are frequently not implemented in the routine practice.What the results of this study add? We show that abnormal results of the screening tests are associated with high anxiety scores in the majority of women (86.0%). The majority of the respondents preferred the risk reported as percentage (vs. historical representation as a ratio). The participants noted several factors which could relieve their anxiety, including an explanatory booklet or a website.What the implications are of these findings for clinical practice and/or further research? Based on the results, we discuss the numerous ways able to available alleviate the distress.

A false negative can happen in many kinds of medical tests, regardless of whether they are screening or diagnostic in nature. However, it inevitably poses serious concerns especially in a prenatal setting because its sequelae can mark the birth of an affected child beyond expectation. False negatives are not a new thing because of emerging new tests in the field of reproductive, especially prenatal, genetics but has occurred throughout the evolution of prenatal screening and diagnosis programs. In this paper we aim to discuss the basic differences between screening and diagnosis, the trade-offs and the choices, and also shed light on the crucial points clinicians need to know and be aware of so that a quality service can be provided in a coherent and sensible way to patients so that vital issues related to a false negative result can be appropriately comprehended by all parties.

OBJECTIVE: Analyze if the evaluation of aberrant right subclavian artery in the prenatal echography has improved the detection of chromosomal, genetic and/or morphological abnormalities in our population.
METHODS: Descriptive, observational, cross-sectional study of the cases of aberrant right subclavian artery diagnosed in our Prenatal Diagnosis Unit between January of 2011 and December of 2018.
RESULTS: Two hundred and fifty-seven cases of aberrant right subclavian artery were diagnosed and among them, 179 were considered isolated cases and thus were confirmed after birth. The detection of aberrant right subclavian artery did not improve itself neither the diagnosis of trisomy 21 in the second trimester of pregnancy nor other chromosomal or genetic abnormalities, including the not isolated cases. There were two cases of trisomy 21 diagnosed in the second trimester that presented major sonographic disorders and an inadequate examination during the first trimester. When aberrant right subclavian artery was associated with soft markers of aneuploidy in the second trimester, any case was a trisomy 21. Aberrant right subclavian artery seems to be associated with some minor and major heart defects, especially ventriculoseptal defect and aneurismatic ductus, and in some cases, also with clubfeet.
CONCLUSIONS: When an adequate screening of aneuploidies and a thorough ultrasound have been performed during the first trimester, aberrant right subclavian artery hardly helps to perform other diagnosis in the second trimester.

BACKGROUND: Cell-free fetal DNA sequencing based non-invasive prenatal testing (NIPT) for Down syndrome (DS) has become widely available. In Hong Kong, obstetric providers in the public sector refer women identified at high risk of having a child with Down syndrome to obstetric providers in the private sector for NIPT. Little is known about how the NIPT has been adopted in the public sector where DS screening is provided for free of charge. The study aimed to identify the factors influencing providers\' role enactment, such as consultation and referral, in the service provision of NIPT for DS in public and private healthcare sectors.
METHODS: In-depth interviews were conducted with 20 obstetric providers offering NIPT in Hong Kong. Thematic narrative analysis was used to identify (i) the factors considered by participants when referring women for NIPT for Down syndrome in public and private healthcare sectors and (ii) their perceptions of the need to integrate NIPT into the current public antenatal service.
RESULTS: Participants raised concerns about the lack of transparent referral guideline between public and private sectors for NIPT. Public obstetric providers reported little obligation to provide women with much information about risks and benefits of NIPT as it was not provided by public sectors. Some private providers assumed that women referred from the public sector had already received sufficient information about NIPT. The providers were also concerned about potential application of NIPT for further detection without regulation.
CONCLUSIONS: Although the providers had good knowledge of clinical advantages of NIPT over conventional screening, they were uncertain about how to introduce NIPT to women. Guidelines are necessary to enable better coordination of public and private sectors services to enable women to make informed choices about the uptake of NIPT.

To examine preferences for follow-up testing in women screened with high or intermediate risk for Down syndrome in the first or second trimester.
Prospective cohort study.
Three public hospitals in Hong Kong, China.
Women with pregnancies termed as high risk (≥1:250; HR) or intermediate risk (1:251-1200; IR) for Down syndrome.
Women with pregnancies screened as HR were offered the choices of: (1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information; (2) non-invasive cell-free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21, and to avoid procedure-related miscarriage; and (3) to decline any further testing. Women received standardised counselling informing them that the reporting times were identical, the procedure miscarriage risk was 0.1-0.2% and that there was no charge for screening. Women with IR pregnancies (1:251-1200) were offered NIPT as a secondary screening test.
Uptake rate for NIPT.
Three hundred and forty-seven women had pregnancies deemed as HR; 344 (99.1%) women opted for follow-up testing, 216 (62.2%) of whom chose NIPT. Five hundred and seven of 614 women (82.6%) with IR risk chose NIPT. Seven (21%) of 34 women with nuchal translucency ≥3.5 mm opted for NIPT.
In a setting where reporting times are similar and there is no cost difference between options, approximately 60% of women with pregnancies classed as HR would opt for NIPT, offering simple but limited aneuploidy assessment, over a diagnostic procedure with comprehensive and more detailed assessment.
60% of pregnant Chinese women prefer NIPT over CMA when screened as high risk for Down syndrome.