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Introduction: The Hong Kong Hospital Authority has newly introduced a new Down's syndrome screening algorithm that offers free-of-charge non-invasive prenatal testing (NIPT) to women who screen as high risk. In preparation for this public-funded second tier NIPT service, the present study was conducted to retrospectively analyse women eligible for NIPT and to review the local literature., Methods: Our retrospective study included women screened as high risk for Down's syndrome (adjusted term risk ≥1:250) during the period of 1 January 2015 to 31 December 2016. We performed descriptive statistics and multivariable logistic regression to examine the factors associated with women's choice between NIPT and invasive testing. We also reviewed existing local literature about second tier NIPT., Results: The study included 525 women who screened positive: 67% chose NIPT; 31% chose invasive diagnostic tests; and 2% declined further testing. Our literature review showed that in non-research (self-financed NIPT) settings, NIPT uptake rates have been increasing since 2011. Nulliparity, first trimester status, higher education, maternal employment, and conception by assisted reproductive technology are common factors associated with self-financed NIPT after positive screening. Among women choosing NIPT, the rates of abnormal results have typically been around 8% in studies performed in Hong Kong., Conclusion: Implementation of second tier NIPT in the public setting is believed to be able to improve quality of care. We expect that the public in Hong Kong will welcome the new policy., Competing Interests: The authors have no conflicts of interest or declarations to report regarding the present work.

Objective: To examine preferences for follow-up testing in women screened with high or intermediate risk for Down syndrome in the first or second trimester., Design: Prospective cohort study., Setting: Three public hospitals in Hong Kong, China., Sample: Women with pregnancies termed as high risk (≥1:250; HR) or intermediate risk (1:251-1200; IR) for Down syndrome., Methods: 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., Main Outcome Measures: Uptake rate for NIPT., Results: 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., Conclusion: 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., Tweetable Abstract: 60% of pregnant Chinese women prefer NIPT over CMA when screened as high risk for Down syndrome., (© 2018 Royal College of Obstetricians and Gynaecologists.)

Objective: To evaluate the performance of the locally developed universal Down syndrome screening programme., Design: Population-based cohort study in the period July 2010 to June 2011 inclusive., Setting: Four Hong Kong Hospital Authority Departments of Obstetrics and Gynaecology and a central university-based laboratory for maternal serum processing and risk determination., Participants: Women were offered either a first-trimester combined test (nuchal translucency, free beta human chorionic gonadotropin, and pregnancy-associated plasma protein-A) or nuchal-translucency-only test, or a second-trimester double test (alpha-fetoprotein and total human chorionic gonadotropin) for detection of Down syndrome according to their gestational age. Those with a trisomy 21 term risk of 1:250 or higher were offered a diagnostic test., Results: A total of 16 205 pregnancies were screened of which 13 331 (82.3%) had a first-trimester combined test, 125 (0.8%) had a nuchal-translucency test only, and 2749 (17.0%) had a second-trimester double test. There were 38 pregnancies affected by Down syndrome. The first-trimester screening tests had a 91.2% (31/34) detection rate with a screen-positive rate of 5.1% (690/13 456). The second-trimester test had a 100% (4/4) detection rate with a screen-positive rate of 6.3% (172/2749). There were seven (0.9%) pregnancies that miscarried following an invasive diagnostic test. There were two Down syndrome-affected live births, both with an estimated first-trimester trisomy 21 term risk lower than 1:250., Conclusion: The universal screening programme offered at the four units was effective and achieved the expected detection rates and low false-positive rates, and to maintain these, the current emphasis on training, quality control, and regular auditing must continue.

Objective: To study pregnant women's preference among various screening options for Down syndrome (DS) in routine clinical setting, and its potential association with women's demographic characteristics., Methods: Women aged 35 years and older carrying singleton pregnancy were offered a variety of screening tests for DS before 14 weeks of gestation. Their preference was confirmed by the test they actually underwent. The association between women's choice of test and a number of demographic characteristics was studied using multinomial regression., Results: Among 1967 eligible women, 619 opted for first-trimester screening test (FTS), 924 for partial integrated test (PIT), and 424 for full integrated test (FIT). Nulliparous women and working mothers were more likely to choose FTS and FIT. Women with history of subfertility were more likely to choose FIT. Women with family history of chromosomal abnormalities were more likely to choose FTS. The choice of screening test could be predicted for 49.9% of women using four demographic characteristics., Conclusions: Among older women of predominantly Chinese ethnicity, integrated test is a favorite alternative to FTS. Their choice of DS screening test can be predicted by their obstetric and socioeconomic characteristics. Many women show willingness to pay for a test with a lower false-positive rate.

Objectives: To examine the effect of rapid aneuploidy testing by amnio-PCR on anxiety levels and quality of life measures in women and their partners with positive Down screening result., Methods: In the original design, screen-positive women were to be randomized to have amnio-PCR or not. Of the first 60 women approached to join the study between April 2004 and April 2005, 4 declined amniocentesis, 14 agreed to be randomized, while the other 42 (75%) chose to pay for the amnio-PCR themselves (3 excluded: 2 because of Down syndrome and 1 dropout). The study was thus performed as a prospective observational study on the remaining 39 women of the last group. The longitudinal profile of the state-anxiety and quality of life domain scores for this cohort were studied using the Spielberger State-Trait Anxiety Inventory and WHO Quality of Life Measure--abbreviated version (Hong Kong) Questionnaire at 5 time points: (1) before amniocentesis, (2) 2 days after amniocentesis when amnio-PCR report was disclosed, (3) 3 weeks after amniocentesis when karyotyping report was disclosed, (4) 30-32 weeks' gestation, (5) 6 weeks after delivery., Results: In the final cohort of 39 women and 27 partners, a significant reduction in their state-anxiety scores was found when they received the normal amnio-PCR report. On the other hand, there was no significant change in their quality of life domain scores., Conclusions: There is a demand from women and their partners who had a positive Down screening result for rapid aneuploidy testing (amnio-PCR) which can effectively alleviate their anxiety. A rapid aneuploidy test should be made available to women in a Down screening programme., (Copyright 2008 S. Karger AG, Basel.)

Objective. To explore whether the outcomes of second-trimester pregnancy termination for fetal abnormalities are affected by fetal diagnoses. Methods. This was a retrospective review of cases undergoing second-trimester pregnancy termination for the fetal diagnoses of hemoglobin Barts, trisomy 21, and trisomy 18 during the period from 1999 to 2006. The affected pregnancies were terminated by vaginal misoprostol. The outcome measures were: (1) abortion within 24 hours after misoprostol commencement, (2) histology-confirmed incomplete abortion, and (3) experience of significant side effects during termination (temperature over 39°C or need for metoclopramide for vomiting). Results. One hundred and twenty cases were available for analysis. After adjusting for maternal age, parity, history of cesarean delivery, body mass index, gestation, and fetal hydrops, pregnancy termination for trisomy 21 was associated with a higher risk of incomplete abortion than trisomy 18 and hemoglobin Barts (odds ratio 5.25, 95% confidence interval 1.24-22.19, p = 0.024). The chance of abortion within 24 hours and experience of significant side effects were not found to be associated with fetal diagnosis. Conclusions. Pregnancy termination for trisomy 21 is associated with a higher risk of incomplete abortion. Fetal diagnosis affects the outcome of pregnancy termination. [ABSTRACT FROM AUTHOR]