A significant correlation was found between the termination of SCA-affected pregnancy and the presence of fetal sonographic abnormalities, type of SCA, maternal age, and presence of infertility.

BackgroundDespite the non-invasive nature of non-invasive prenatal testing (NIPT), there is still a need for a separate informed consent process before testing. The objectives of this study are to assess (a) knowledge and preferences of Chinese women in a major public hospital in Hong Kong who underwent NIPT, and (b) whether their knowledge and preferences differ depending on womens’ characteristics and sources of information.MethodsSetting: prenatal diagnosis and counselling clinic.Between February 2012 and September 2013, a questionnaire survey was distributed to all women who underwent NIPT after positive aneuploidy screening. As a pilot study, ten knowledge questions were designed based on the rapid response statement on Prenatal Detection of Down Syndrome using Massively Parallel Sequencing from the International Society for Prenatal Diagnosis in 2011. The source of women’s knowledge and their preferences were also evaluated. While conventional screening was publicly funded, NIPT was not. Differences between subgroups were compared using chi square tests and logistic regression analysis.ResultsOf 152 women who underwent NIPT, 135 (88.8 %) completed their questionnaires. More than 90 % of women recognised the possibility of false positive and false negative results. Slightly more than 70 % of women knew the inferior sensitivity of NIPT compared to an invasive test, and the possibility of an uninformative test result, but were not aware of the complicated aspects of NIPT. Pregnant women with an advanced level of education or those who underwent NIPT before 15 weeks provided answers that was more accurate by around 10-20 % in two to three knowledge questions than those without. These associations were confirmed by multivariate logistic regression analysis. The women received information on NIPT largely from their private doctors (47.4 %) and web (41.5 %). In their future pregnancies, more women would opt for NIPT (a self-financed item) after positive screening (‘free’ in a public hospital) (57.8 %) than as a primary screening (30.4 %).ConclusionsIt is feasible to use a questionnaire based on the ISPD statement on NIPT to assess women’s knowledge of the test. The Chinese women who underwent NIPT recognised the limitations, but did not understand the complicated aspects. More information should be provided by health care professionals in order to facilitate an informed choice by patients. More women preferred NIPT as a contingent test than as a primary screening probably because of its high cost.

This study supports training in genetic counseling for obstetricians and adoption of a multidisciplinary approach in the counseling process following prenatal diagnosis of sex chromosome aneuploidy.

Objectives: To determine if the use of high frequency linear transducer (HFLT) in addition to conventional curvilinear transducer (CCT) aids assessment of fetal cardiac and non-cardiac anatomy in the first trimester. Methods: Transabdominal CCT (4 -8 MHz) followed by HFLT (9 MHz) was used to study prospectively the visualization rate of basic and optional anatomical structures according to international guidelines. McNemar and Chi-square test were used to compare correlated and independent proportions respectively. Postnatal outcomes were traced. Results: Comparing with CCT alone, additional use of HFLT did not improve the completion rate of basic anomaly screen (95.0% vs. 97.0%, p = 0.5) in the 101 women studied, but it improved the visualization rate of some optional structures including lens (57.4% vs. 73.3%), three-vessel view (3 VV) (17.8% vs. 48.5%), left ventricular outflow tract (17.8% vs. 51.5%), kidneys (8.9% vs. 47.5%), and umbilical artery (86.1% vs. 93.1%) (all p < 0.05). Favourable fetal position was associated with a better visualisation of four-chamber view and 3VV (p < 0.05). Conclusions: Our findings supported that the use of HFLT in addition to CCT does not improve the completion of basic anomaly screen, nor does it achieve a high visualisation rate of different cardiac views in the first trimester.