Objective To evaluate screening for chromosomal defects by a combination of fetal nuchal translucency thickness and maternal age.Design A prospective multicentre screening study where fetal nuchal translucency thickness was measured at 10 to 14 weeks of gestation. Main outcome measuresTrisomy 21 and other chromosomal defects identified by increased nuchal translucency thickness and by a combination of nuchal translucency thickness and maternal age. ResultsIn normal fetuses nuchal translucency thickness increased significantly with crown-rump length. The nuchal translucency was above the 95th centile in 77% (66 of 86) of fetuses with trisomy 21 and in 78 YO (61 of 78) of those with other chromosomal defects. On the basis of the distribution of nuchal translucency measurements in normal fetuses and those with trisomy 21, a new method of screening is proposed which involves assessment of individual risk based on the combination of fetal nuchal translucency, crown-rump length and maternal age. The minimum risk was 1/100 in 4.9% of the normal pregnancies, in 80 % of those with trisomy 21 and in 77 % of those with other chromosomal defects.

Main objectiveTo determine the extent to which women plan and prepare for pregnancy.MethodsCross-sectional questionnaire survey of pregnant women attending three maternity services in London about knowledge and uptake of preconception care; including a robust measure of pregnancy planning, and phone interviews with a range of health care professionals.Main resultsWe recruited 1173/1288 (90%) women, median age of 32 years. 73% had clearly planned their pregnancy, 24% were ambivalent and only 3% of pregnancies were unplanned. 51% of all women and 63% of those with a planned pregnancy took folic acid before pregnancy. 21% of all women reported smoking and 61% reported drinking alcohol in the 3 months before pregnancy; 48% of smokers and 41% of drinkers reduced or stopped before pregnancy. The 51% of all women who reported advice from a health professional before becoming pregnant were more likely to adopt healthier behaviours before pregnancy [adjusted odds ratios for greatest health professional input compared with none were 2.34 (95% confidence interval 1.54–3.54) for taking folic acid and 2.18 (95% CI 1.42–3.36) for adopting a healthier diet before pregnancy]. Interviews with 20 health professionals indicated low awareness of preconception health issues, missed opportunities and confusion about responsibility for delivery of preconception care.Significance of the findingsDespite a high level of pregnancy planning, awareness of preconception health among women and health professionals is low, and responsibility for providing preconception care is unclear. However, many women are motivated to adopt healthier behaviours in the preconception period, as indicated by halving of reported smoking rates in this study. The link between health professional input and healthy behaviour change before pregnancy is a new finding that should invigorate strategies to improve awareness and uptake of pre-pregnancy health care, and bring wider benefits for public health.

Objectives

The aim of this prospective study was to assess the repeatability of measurement of fetal nuchal translucency thickness at 10-14 weeks' gestation. The nuchal translucency was measured by two of four operators in 200 pregnant women attending the Harris Birthright Research Centre for Fetal Medicine at 10-14 weeks' gestation. To assess repeatability of different components of variability, six measurements of nuchal translucency were made on each fetus, with a total of 1200 measurements. The data of this study demonstrate that 95% of the time the intraobserver, interobserver and caliper placement repeatability of measuring fetal nuchal translucency were less than 0.54 mm, 0.62 mm and 0.58 mm, respectively. In addition, the repeatability was unrelated to the size of the nuchal translucency. The findings of this study demonstrate that, when the nuchal translucency thickness is measured by well-trained operators, the measurement is highly reproducible.

Objective: To investigate whether measurement of maternal serum placental growth factor (PLGF) can improve the performance of first-trimester combined screening for trisomy-21 by fetal nuchal translucency (NT) thickness and serum free β-human chorionic gonadotropin (β-hCG) and PAPP-A. Methods: In singleton pregnancies attending for routine care, serum PLGF, free β-hCG and PAPP-A were measured at 8⁺⁰–13⁺⁶ weeks’ gestation, and fetal NT was measured at 11⁺⁰–13⁺⁶ weeks. The population included 12,154 normal and 44 trisomy-21 pregnancies. We examined the effect of adding PLGF on the performance of screening by the combined test. Results: In the trisomy-21 pregnancies the median multiple of the normal median PLGF, adjusted for gestational age, maternal weight, racial origin, smoking status and method of conception, was significantly reduced (0.6070, 95% CI 0.5543–0.6648), and this did not change significantly with gestational age. Adding PLGF to combined testing with a risk cut-off of 1 in 100 reduced the false positive rate from 2.7% (95% CI 2.5–3.0) to 2.6% (95% CI 2.4–2.8) and increased the detection rate from 85% (95% CI 75–93) to 88% (95% CI 78–95). Conclusions: Inclusion of serum PLGF improves the performance of the first-trimester combined test in screening for trisomy-21.

The aim of this prospective screening study was to evaluate the implementation of an additional ultrasound examination, incorporating the measurement of fetal nuchal translucency thickness, at 10-13 weeks' gestation in two maternity units providing routine antenatal care. During the 1 year prior to the introduction of the first-trimester scan, the major indication for fetal karyotyping was maternal age > or = 35 years and only two out of the total of 11 cases of trisomy 21 were identified. In the first 5 months of the study, 70% of the women delivering in these hospitals attended for measurement of fetal nuchal translucency thickness and the measurement was obtained in all cases. This was achieved without an increase in the number of sonographers or ultrasound machines. The incidence of fetal nuchal translucency thickness > or = 2.5 mm was 3.6% (63 of 1763), and this group included three of the four fetuses with trisomy 21. The findings of this study demonstrate the feasibility of introducing scanning at 10-13 weeks' gestation and the measurement of fetal nuchal translucency thickness in routine maternity units. The sensitivity and specificity of this method of screening are at present being evaluated in a large multicenter study.

Objectives: To determine the diagnostic accuracy of ultrasound at 11-14 weeks gestational age in the detection of fetal cardiac abnormalities, and to evaluate factors that impact detection rates.Methods: A systematic review of studies evaluating the diagnostic accuracy of ultrasound in the detection of fetal cardiac anomalies at 11-14 weeks gestational age was undertaken by two independent reviewers. Prospective and retrospective studies evaluating pregnancies at all levels of prior risk and in any healthcare setting were eligible for inclusion. The reference standard used was the detection of a major cardiac abnormality on postnatal or post-mortem examination. Data were extracted from included studies to populate 2 x 2 tables. Meta-analysis was performed using a random-effects model in order to determine the overall performance of first trimester ultrasound in the detection of major cardiac abnormalities overall and in addition, for individual types of cardiac abnormalities. Data were analysed separately for high-risk populations vs. non-high risk populations. Pre-planned secondary analyses were conducted in order to assess factors which may impact screening performance including: the imaging protocol used for cardiac assessment (including use of Colour Doppler), mode of ultrasound, publication year of study, and the index of sonographer suspicion at the time of scan. A risk of bias and quality assessment was undertaken for all included studies using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2).Results: An electronic search of four databases (Medline, Embase, Web of Science Core Collection and Cochrane Library) was conducted from January 1998 until July 2020 and identified 4108 citations. This led to 223 full text reviews from which a total of 63 studies were selected for inclusion. Data from a total of 328,214 screened fetuses were included. In non-high risk populations (45 studies, 306,872 fetuses), 1,445 major cardiac anomalies were identified (prevalence 0.41 (95% C.I. 0.39 -0.43)). Of these, 767 were correctly detected by first trimester examination of the heart and 678 were not detected. Pooled sensitivity was 55.80% (95% CI 45.87-65.50%,), specificity 99.98% (95% CI 99.97 -99.99%) and positive predictive value 94.85% (95% CI 91.63-97.32%). The cases diagnosed in the first trimester represent Accepted ArticleThis article is protected by copyright. All rights reserved.63.67% (95% CI 54.35 -72.49%) of all antenatally diagnosed major cardiac abnormalities. In high risk populations (18 studies, 21,342 fetuses) 480 major cardiac anomalies were identified (prevalence 1.36 (95% C.I. 1.20 -1.52)). Of these, 338 were correctly detected in the first trimester, and 142 were not detected. The sensitivity was 67.74% (95% CI 55.25 -79.06%), specificity 99.75% (95% CI 99.47 -99.92%) and positive predictive value 94.22% (95% CI 90.22 -97.22%). The cases diagnosed in the first trimester represent 79.86% (95% CI 69.89 -88.25%) of all antenatally diagnosed major cardiac abnormalities in high risk populati...

Objectives To describe a new first‐trimester sonographic sign, the ‘crash sign’, associated with fetal open spina bifida, and to evaluate its clinical usefulness in the first‐trimester diagnosis of spina bifida. Methods This was a retrospective review of patients referred to three fetal medicine centers in the first trimester (11 + 0 to 13 + 6 weeks) with suspected spina bifida. Spina bifida was confirmed by direct visualization of the spinal defect on ultrasound by two experts and, when possible, by fetal postmortem examination. Ultrasound images were reviewed for the presence of the crash sign, which is the posterior displacement of the mesencephalon and deformation against the occipital bone in the axial view. The first‐trimester ultrasound images of a mixed group of 10 cases and 40 control fetuses without spina bifida were assessed for the presence of the crash sign by two assessors blinded to the diagnosis. Results The crash sign was present in 48 out of 53 confirmed cases of spina bifida. Of these, 27 had isolated spina bifida and 21 had an associated anomaly. Of the five cases without the crash sign, one had isolated spina bifida and four had an associated anomaly. The crash sign was not reported in any of the control fetuses. Conclusions We have described a new first‐trimester sonographic marker for the diagnosis of spina bifida. Our results suggest that the crash sign may be a useful tool in the first‐trimester detection of spina bifida. Prospective evaluation of the crash sign would be beneficial, ideally in a routine clinical screening ultrasound setting. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.