Reappraising the Value of Fetal First-Trimester Ultrasonography

In the last few years,the introduction of cell-free DNA has rapidly altered prenatal screening regimens and is increasingly offered as the second- or,at times,even the first-tier screening test.Should an early anomaly scan also be part of an up-to-date screening policy? This paper reappraises the value of fetal first-trimester ultrasonography.The primary aims of the first-trimester scan are to establish gestational age based on the measurement of fetal crown-rump length,to detect multiple pregnancy and chorionicity,and to measure fetal nuchal translucency thickness as part of a combined screening test for chromosomal abnormalities.With recent advancements in ultrasound technology,there is compelling evidence that a majority of fetuses with major structural abnormalities and almost half of them without chromosomal abnormalities can be detected in the first trimester.We focused on the first-trimester screening of fetal major defects,especially including fetal congenital heart disease and cleft lip and palate by ultrasound markers and views.Moreover,it is critical to highlight that after a detailed anomaly scan in the first trimester without major structural anomalies and positive genetic tests,the residual chance of favorable outcome in fetuses with isolated increased nuchal translucency is relatively high.The discussion on the role of cell-free DNA in prenatal screening is still ongoing.Even in the event of it becoming a first-line screening test for aneuploidies,the importance of a first-trimester fetal scan,including assessment of markers for other anomalies,remains undisputed.

Predicting adverse maternal and perinatal outcome after threatened miscarriage

Objectives: Threatened miscarriage is the most common complication of pregnancy, occurring in 20% - 25% of ongoing pregnancies. The purpose is to study maternal and perinatal outcome in women with threatened miscarriage. Methods: A prospective study was conducted over a period of 20 months in the Department of Obstetrics and Gynaecology, Pannadhay Mahila Chikitsalaya, a tertiary care center in Udaipur, India. It included a cohort of pregnant patients with a history of threatened miscarriage during the first twenty weeks of pregnancy. They were registered, followed up prospectively at antenatal clinics and delivered in the same hospital. For the purpose of comparison, another group of booked patients (controls) without a history of threatened miscarriage were recruited, similarly scanned and followed throughout pregnancy and labour. All women were matched for age, parity, social class, BMI and gestational age at booking. Discrete variables were taken as counts (or frequencies) and were evaluated by Chi-square test. Continuous variables with normal distribution were presented as mean ± standard deviation (SD) and were compared by unpaired Student’s t test. Data were fed into a Microsoft Excel worksheet and were analyzed by using the SPSS ver.17 (SPSS Inc., Chicago, IL, USA). p-value > 0.05 was considered statistically significant. Results: Out of 62 cases, 13 (21%) patients spontaneously aborted after diagnosis of threatened miscarriage. Women with threatened miscarriage had a significantly higher incidence of low lying placenta (p = 0.02) when compared with those without firsttrimester bleeding. They were more likely to experience PROM (p = 0.02), preterm delivery (p = 0.02) and to have babies with low Birthweight (p = 0.03). Conclusion: Pregnancies complicated by threatened miscarriage are at a higher risk for obstetric complications.

The Use of a High Frequency Linear Transducer in the Assessment of Fetal Anatomy at the Routine 11 to 13 + 6-Week Scan among Chinese Population

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.

Association between Maternal Serum Concentrations of Angiopoietin-like Protein 2 in Early Pregnancy and Subsequent Risk of Gestational Diabetes Mellitus

Background：A recent study reported a positive association between elevated serum levels of angiopoietin-like protein 2 （ANGPTL2） and the development of type 2 diabetes in a general population.However,the relationship of serum ANGPTL2 levels with the risk of developing gestational diabetes mellitus （GDM） has not been reported to date.The aim of this study was to investigate the change of maternal serum ANGPTL2 concentrations in the first trimester of pregnancy and to determine whether ANGPTL2 is a biomarker for subsequent GDM development.Methods：We conducted a prospective,nested case-control study in a pregnancy cohort.First-trimester ANGPTL2 levels were measured using a high-resolution assay in 89 women who subsequently developed GDM and in a random sample of 177 women who remained euglycemic throughout the pregnancy.Median ANGPTL2 levels were compared using Mann-Whitney U-test.Logistic regression was used to compute unadjusted and multivariable-adjusted odds ratios for developing GDM among ANGPTL2 quartiles.Results：The serum levels of ANGPTL2 was higher in women with GDM than that in women without GDM （3.06 [2.59,3.65] ng/ml vs.2.46 [2.05,2.96] ng/ml,P =0.003）.Fasting blood glucose was higher in women with GDM than that in women without GDM （5.0 ± 0.9 mmol/L vs.4.4 ± 0.6 mmol/L,P 〈 0.001）.Glucose challenge test showed that the blood glucose was higher in women with GDM than that in women without GDM （9.1 ± 3.5 mmol/L vs.6.2 ± 1.2 mmol/L,P 〈 0.001）.A multivariate model adjusted for baseline characteristics,medical complications,and gestational characteristics revealed that the risk of developing GDM among women in Q4 compared with Q1 was 2.90-fold more likely to develop GDM later in pregnancy.Conclusions：At 1 1-13 weeks in pregnancies that develop GDM,the serum concentration of ANGPTL2 is increased,and it can be combined with maternal factors to provide effective early screening for GDM.

Implementation of Maternal Blood Cell Free DNA Testing in Early Screening for Aneuploidies

In the past 9 years,several externally blinded validation and implementation studies have shown that it is now possible,through analysis of cell-free(cf)DNA in maternal blood,to effectively detect a high proportion of fetuses affected by trisomies 21,18,and 13 at a much lower false positive rate than all other existing screening methods.This article aims to review the technical and clinical considerations for implementing cfDNA testing in routine practice,including methods of analysis,performance of the test,models for clinical implementation,and interpretation of results.

Ultrasound Screening of Fetal Anomalies at 11-13^(+6)Weeks

During the past decades,early fetal ultrasound and diagnosis have increasingly gained attention in pregnancy care with the development of high-frequency transducers,which make it possible to obtain detailed images of the early fetus and its organs,and thus move part of the anatomy and anomaly scan from the second to the first-trimester.By transabdominal sonography or transvaginal sonography,or a combination of both approaches,it is now able to diagnose a wide variety of fetal abnormalities at 11-13^(+6)weeks.