In this first Asian study, the decision outcomes (decision conflict, decision regret, and anxiety) of 262 pregnant women offered noninvasive prenatal test (NIPT) for high-risk Down screening results were assessed. Decision conflict was experienced by 3.5% and level of decisional regret low (mean score 15.7, 95%CI 13.2-18.3). All 13 cases of decisional regret were NIPT acceptors. Elevated anxiety was experienced by 55.9% at the time of decision making about NIPT and persistent in 30.3%. Insufficient knowledge about NIPT was associated with elevated anxiety at decision making (p = .011) and with decisional regret (p = .016). Decisional regret was associated with prolonged anxiety (p = .010).
Genetic screening using non-invasive cell-free DNA (cf-DNA) test has near-diagnostic screening performance and no procedure-related risk of miscarriage. 1 However, owing to the ease with which it can be performed, there has been concern that women may accept it without giving enough thought or consideration to it. 2 This pilot study aimed to assess informed choice in at-risk women who were offered secondary screening by cf-DNA. Amid a wide variety of definitions and measures of informed choice, 3,4 we used one of the most accepted quantitative tools developed for prenatal Down screening, the multidimensional measure of informed choice (MMIC). It was based on a definition of informed choice being one made with sufficient knowledge, consistent with the person's attitudes to the test, and behaviorally implemented. 5 We also included the dimension of deliberation, making possible evaluation of women's informed decision making. 3 Eligible subjects were recruited from five public obstetric units across Hong Kong. Institutional Review Board approval from all the participating hospitals and women's informed consent were obtained. Women aged ≥18 years carrying a singleton pregnancy at increased risk of Down syndrome at conventional Down syndrome screening (risk ≥1:250) were offered a choice between cf-DNA as second-tier screening test or invasive prenatal tests (IPT) if they were keen on further testing. Conventional Down syndrome screening tests in the first trimester combined nuchal translucency and maternal serum biochemistry, and in the second trimester included biochemistry only. Both cf-DNA and IPT were offered free-ofcharge. Before women with positive Down syndrome screening results underwent the test of their choice (cf-DNA or IPT), they received individual counseling by specialist midwife as well as detailed written information about the test options. The counseling included (1) a brief description of cf-DNA technology with maternal, placental and fetal contribution of cell-free DNA in maternal circulation, (2) what it tests and does not test for (for example, fetal anatomy and mentality) (3) its nature of being a screening test, requiring confirmation of positive results by invasive prenatal test, (4) its turn-around time and reporting format, (5) benefits of cf-DNA (mainly to reduce unnecessary invasive test and procedure-related risk of miscarriage); and (6) limitations, namely, still being a screening test, possibility of inconclusive or atypical result, possible delay in diagnosis of an affected pregnancy, and potential anxiety it may bring). On the same day, participants of the study completed a study questionnaire.The questionnaire covered, besides demographics, components of informed choice and decision making. Women's knowledge about cf-DNA was measured by a knowledge scale that contained eight statements, each with two response options ("true" or "false") as follows: (1) a positive cf-DNA result means the fetus must have Down syndrome; (2) a negative cf-DNA report means the fetus has no Down syndrome; (...
K E Y W O R D S : Down screening; Extended report; High-risk; Non-invasive prenatal test; Standard report; Women's choice In addition to common trisomies, the inclusion of sex chromosomes and atypical autosomal anomalies in non-invasive prenatal tests (NIPTs) is becoming increasingly common; this is the result of limited screening alternatives that can identify them. 1 It has been recommended that healthcare practitioners understand patient preferences thoroughly, 1 and that, given the complexity of NIPTs, patients be given the option to accept or reject this additional information. 2,3 However, how much information patients want from NIPTs in a reallife clinical setting remains unknown. This knowledge has implication for the provision and delivery of prenatal screening services.In the present study, women attending five public hospitals within the Hospital Authority, Hong Kong, who had pregnancies with positive conventional Down-syndrome screening test results (first-trimester combined or second-trimester biochemical) between July 1, 2015, and May 31, 2016, were offered free-of-charge NIPTs.Patients could choose either a standard report that provided information on chromosomes 13, 18, and 21, or an extended report that also included information on sex chromosomes and other autosomes. Patients received individual counseling by a specialist midwife before testing and were given detailed information on the pros and cons of the standard and extended reports. Patient knowledge about NIPTs was assessed using an eight-question quiz (Cronbach alpha coefficient 0.675). Logistic regression using SPSS version 17.0 (SPSS, Chicago, IL, USA) was used to identify characteristics that were predictive of patient choice. The Hospital Authority institutional review board approved the present study and all participants gave informed consent to participate.There were 216 women with positive Down-syndrome screening results who agreed to participate in the study; 178 (82.4%) chose to receive the extended report. Univariate analyses were performed (Table 1) and the results of the logistic regression demonstrated that choosing the extended report was independently associated with higher maternal education (adjusted odds ratio 2.85, 95% confidence interval 1.15-7.06) and better knowledge of the testing (adjusted odds ratio 2.90, 95% confidence interval 1.29-6.51).To the best of our knowledge, the present study was the first to investigate how much information pregnant women actually desire from NIPTs following a positive Down-syndrome screening result (a time when a NIPT is immediately and fully relevant to them). Outside this clinical context, patients could have perceived NIPT differently. 4Patients' reported preferences were confirmed by the testing they eventfully underwent.In the present pilot study, performed in a real-life clinical setting, among patients with pregnancies at risk for Down syndrome, more educated patients and those with better knowledge of NIPTs favored an extended NIPT report. Non-invasive prenatal testing is beco...
Introduction: To determine the effect of changes in the diagnostic criteria on the number of gestational diabetes mellitus (GDM) detected and on pregnancy and neonatal outcomes. Methods: We retrospectively reviewed results of the 75g oral glucose tolerance test and pregnancy and neonatal outcomes of Chinese women with singleton pregnancies delivered at Tuen Mun Hospital between January and December 2016. Those with GDM was treated with lifestyle modification with or without insulin. Women with GDM detected by the old and new criteria were compared in terms of the numbers of GDM detected, maternal characteristics, pregnancy outcomes, and neonatal outcomes. Results: Of 733 pregnant women, 211 (28.8%) and 190 (25.9%) were identified as having GDM based on the old or new criteria, respectively (p=0.01). Women with GDM based on the old or new criteria were comparable in terms of maternal characteristics, pregnancy outcomes, and neonatal outcomes. Among the 190 women with GDM based on the new criteria, 33 (17.4%) had normal fasting blood glucose and 2-hour glucose results but abnormal 1-hour glucose result. Compared with women without GDM, women with GDM detected by 1-hour glucose test alone had lower birthweight neonates (3.04 kg vs 3.22 kg, p=0.01), more neonates small for gestational age (3.7% vs 15.2%, p=0.01), with hypoglycaemia (15.2% vs 3.9%, p<0.001), and admission to neonatal intensive care unit (12.1% vs 1.3%, p<0.001). Conclusions: The new criteria detected 2.9% fewer women with GDM. 17.4% of women with GDM who were associated with poor neonatal outcomes were detected exclusively by 1-hour glucose test. The new criteria can help identify high-risk women for fetal monitoring.
To review medical records of pregnant women with positive non-invasive prenatal testing (NIPT) results for sex chromosome abnormalities who attended Tuen Mun hospital between 2015 and 2021. Patient decision after prenatal diagnosis, confirmatory diagnostic testing results, and pregnancy/neonatal outcomes were summarised. Methods: Medical records of women with abnormal NIPT results for sex chromosome abnormalities who attended Tuen Mun Hospital between January 2015 and December 2021 were retrospectively reviewed. Results: 56 Chinese women attended our prenatal diagnostic clinic with abnormal NIPT results for sex chromosome abnormalities involving 45,X (n=17), 47,XXY (n=10), 47,XXX (n=6), 47,XYY (n=8), disproportionate level of sex chromosomes (n=9), copy number variants of sex chromosomes (n=3), and suspected maternal sex chromosome imbalance (n=3). 53 had singleton pregnancies and three had dichorionic-diamniotic twin pregnancies. 58.9% had conventional combined Down syndrome screening; 15.2% of them were at high risk for trisomy 21. 33 (58.9%) of the patients opted for invasive diagnostic test: amniocentesis (n=29), chorionic villus sampling (n=3), and chorionic villus sampling followed by amniocentesis (n=1). Confirmatory cytogenetic test results (including postnatal results) were available in 35 cases. The overall positive predictive value of NIPT to detect fetal sex chromosome aneuploidies was 71.4%; the value was 42.9% for detecting 45,X, 100% for detecting 47,XXY, 80% for detecting 47,XXX, and 83.3% for detecting 47,XYY. False positive results were observed in three cases of confined placental mosaicism and three cases of vanishing twin pregnancies. Two women with 47,XXX and one woman with mosaic 45,X/46,XX were also incidentally discovered. Conclusion:Positive NIPT results for sex chromosome abnormalities can be caused by true fetal sex chromosome abnormalities, confined placental mosaicism/placental mosaicism, vanishing twins, and maternal X chromosome abnormalities. Multidisciplinary management can help prenatal counselling and genetic diagnosis. Follow-up confirmatory cytogenetic analysis prenatally and/or postnatally is useful to characterise the numeric or structural fetal sex chromosome abnormalities and their mosaic patterns, and can maximise the benefits of prenatal genetic screening in obtaining more genetic information to support pregnancy management and clinical care of affected unborn child.
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