Measurement Of Fetal Nuchal Translucency Research Articles

The 'Radiant Effect': Recent Sonographic Image-Enhancing Technique and Its Impact on Nuchal Translucency Measurements.

Background: This study assesses the effects of the 'Radiant' image enhancement technique on fetal nuchal translucency (NT) measurements during first-trimester sonographic exams. Methods: A retrospective analysis of 263 ultrasound images of first-trimester midsagittal sections was conducted. NT measurements were obtained using a semi-automatic tool. Statistical methods were applied to compare NT measurements with and without 'Radiant' enhancement. An in vitro setup with predefined line distances provided additional data. Results: Incremental increases in NT measurements were observed with varying levels of 'Radiant' application: an average increase of 0.19 mm with 'Radiant min', 0.24 mm with 'Radiant mid', and 0.30 mm with 'Radiant max.' The in vitro results supported these findings, showing consistent effects on line thickness and measurement accuracy, with the smallest mean deviation occurring at the 'Radiant mid' setting. Conclusions: 'Radiant' image enhancement leads to significant increases in NT measurements. To avoid systematic biases in clinical assessments, it is advisable to disable 'Radiant' during NT measurement procedures. Further studies are necessary to corroborate these findings and to consider updates to the NT reference tables based on this technology.

Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes

Ultrasonographic measurement of fetal nuchal translucency is used in prenatal screening for trisomies 21 and 18 and other conditions. A cutoff of 3.5 mm or greater is commonly used to offer follow-up investigations, such as prenatal cell-free DNA (cfDNA) screening or cytogenetic testing. Recent studies showed a possible association with chromosomal anomalies for levels less than 3.5 mm, but extant evidence has limitations. To evaluate the association between different nuchal translucency measurements and cytogenetic outcomes on a population level. This population-based retrospective cohort study used data from the Better Outcomes Registry & Network, the perinatal registry for Ontario, Canada. All singleton pregnancies with an estimated date of delivery from September 1, 2016, to March 31, 2021, were included. Data were analyzed from March 17 to August 14, 2023. Nuchal translucency measurements were identified through multiple-marker screening results. Chromosomal anomalies were identified through all Ontario laboratory-generated prenatal and postnatal cytogenetic tests. Cytogenetic testing results, supplemented with information from cfDNA screening and clinical examination at birth, were used to identify pregnancies without chromosomal anomalies. Multivariable modified Poisson regression with robust variance estimation and adjustment for gestational age was used to compare cytogenetic outcomes for pregnancies with varying nuchal translucency measurement categories and a reference group with nuchal translucency less than 2.0 mm. Of 414 268 pregnancies included in the study (mean [SD] maternal age at estimated delivery date, 31.5 [4.7] years), 359 807 (86.9%) had a nuchal translucency less than 2.0 mm; the prevalence of chromosomal anomalies in this group was 0.5%. An increased risk of chromosomal anomalies was associated with increasing nuchal translucency measurements, with an adjusted risk ratio (ARR) of 20.33 (95% CI, 17.58-23.52) and adjusted risk difference (ARD) of 9.94% (95% CI, 8.49%-11.39%) for pregnancies with measurements of 3.0 to less than 3.5 mm. The ARR was 4.97 (95% CI, 3.45-7.17) and the ARD was 1.40% (95% CI, 0.77%-2.04%) when restricted to chromosomal anomalies beyond the commonly screened aneuploidies (excluding trisomies 21, 18, and 13 and sex chromosome aneuploidies). In this cohort study of 414 268 singleton pregnancies, those with nuchal translucency measurements less than 2.0 mm were at the lowest risk of chromosomal anomalies. Risk increased with increasing measurements, including measurements less than 3.5 mm and anomalies not routinely screened by many prenatal genetic screening programs.

A survey to assess the incidence of Down syndrome risk in rural southwestern Romania.

Despite the significant evolution in recent years in the medical field, many fetal conditions that can be detected in the early stages, remain a social and economic burden due to a lack of diagnostic and treatment programs. The main objective of the present study was to realize a screening program related to the early detection of Down syndrome, by analyzing biochemical and imaging markers, in women from the rural areas of Southwest Romania. Accordingly, data from 269 pregnant women were taken into evaluation for maternal age, maternal weight, smoking and diabetic statuses, along with ultrasound measurements that were performed to establish fetal nuchal translucency (FNT) and biochemical analysis of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein (PAPP-A). Patients at high risk for trisomy 21 (≥1:250) were counseled and the optimal protocol was established for each case. Of the 269 patients studied, 5.6% were included in the risk group based on β-hCG-associated MoM (multiple median approaches) analysis, sonographic measurements and maternal age correlation. Specifically, 60% of patients at risk presented a β-hCG MoM value >1.5 and 20% of patients at risk presented a value ≤0.5 for PAPP-A MoM, and the average maternal age was 33. Measurement of FNT and serum markers, together with associated MoM intervals, was not sufficient to establish the diagnosis of trisomy 21 and to make a risk group inclusion. In summary, the association between sonographic measurements and serum marker values, together with maternal age, are predetermined and indispensable conditions for the most accurate classification in a high-risk group.

The significance of maternal blood pregnancy-associated plasma protein A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (β-hCG) levels for the risk assessment of fetal trisomy 18 during the first prenatal testing between 11 and 13+6 weeks of pregnancy.

The aim of the study was to evaluate the significance of the maternal blood level of pregnancy-associated plasma protein A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (β-hCG), to estimate the risk of fetal trisomy 18 and their correlation with the assessment of nuchal translucency (NT) during the first prenatal testing. Examinations of 93 pregnant women between 11 and 13+6 weeks of pregnancy were conducted, which included determination of β-hCG and PAPP-A concentrations in the maternal serum and ultrasound assessment of fetal nuchal translucency. Concentrations of biochemical parameters were expressed as multiples of median (MoM) for the appropriate gestational age. The risk assessment of trisomy 18 was analyzed using Astraia software. Pregnant women with a high (≥ 1:300) risk of trisomy 18 were offered a genetic amniocentesis with an examination of fetal karyotype. Twenty cases were healthy and 23 with trisomy 18. PAPP-A and β-hCG MoM values < 0.3 were found in 61% cases of fetal trisomy 18. In 26% of cases, PAPP-A and β-hCG MoM values < 0.2 were NT-independent risk factors for trisomy 18. There were no significant differences between groups with normal fetal karyotype (40%) and trisomy 18 (35%) in PAPP-A and β-hCG MoM 0.2-0.5 range. Maternal free β-hCG MoM was found to change parallelly to fetal NT widening in case of trisomy 18 diagnosis. Maternal β-hCG and PAPP-A MoM results presented less then 0.2 might be used independently of NT widening in fetus for trisomy 18 risk evaluation. Above 0.2 for PAPP-A and β-hCG MoMs, fetal NT measurement was an requirment.

VP03.04: First trimester aneuploidy screening using maternal characteristics, serum biochemical markers and nuchal translucency in a low‐risk population

To evaluate the performance of a first trimester screening for aneuploidy in detecting Trisomy 21, 18 and 13 using maternal charateristics, serum biochemical markers and fetal nuchal translucency measurement in a low-risk population. It also aims to determine the maternal variables associated with risk of Trisomy 21, 18 and 13. The FTS aneuploidy program was introduced in our institution on January 2014. This is a retrospective review of patients referred for FTS between January 2014 to June 2018 to determine the performance of our FTS program. The final risk for aneuploidy was obtained using the LifecycleTM prenatal screening software (Perkin Elmer, USA), with a cut-off value of 1:250. Pregnancy variables and outcomes were determined by reviewing delivery records. The incidence of aneuploidy in our institution was 3 per 1,000 livebirths. 134 women were included with age range 21–44 years (mean 34.79 years). Pre-pregnancy BMI showed 48 (35.8%) overweight and 14 (10.4%) obese mothers. 55 (41.0%) had associated comorbidities including DM, hypothyroidism, hypertension, APAS, pre-eclampsia. 14 (10.4%) women screened high risk for T21 and all neonates were karyotype negative. 120 (89.6%) women screened low risk and all neonates were karyotype negative. One woman screened high risk for T18 and T13 and the neonate was karyotype negative. Multivariate analysis showed that maternal age and NT MoM were significantly associated with risk for T21 (p < 0.05). For every increase in age, there is 1.35x increase risk for T21 (OR = 1.35; 95% CI:1.10–1.67; p = 0.005). For every increase in NT MoM, there is 13x increased risk for T21 (OR = 12.99; 95% CI:1.82–92.76; p = 0.01). The first trimester screening for Trisomy 21 in this low-risk population has a specificity of 89% and negative predictive value of 100% at a false-positive rate of 10%. Maternal age, nuchal translucency MoM and nasal bone were significantly associated with risk for Trisomy 21.

First Trimester Combined Test (FTCT) as a Predictor of Gestational Diabetes Mellitus.

Background—The first trimester combined test (FTCT) is an effective screening tool to estimate the risk of fetal aneuploidy. It is obtained by the combination of maternal age, ultrasound fetal nuchal translucency (NT) measurement, and the maternal serum markers free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A). However, conflicting data have been reported about the association of FTCT, β-hCG, or PAPP-A with the subsequent diagnosis of gestational diabetes mellitus (GDM). Research design and methods—2410 consecutive singleton pregnant women were retrospectively enrolled in Calabria, Southern Italy. All participants underwent examinations for FTCT at 11–13 weeks (plus 6 days) of gestation, and screening for GDM at 16–18 and/or 24–28 weeks of gestation, in accordance with current Italian guidelines and the International Association Diabetes Pregnancy Study Groups (IADPSG) glycemic cut-offs. Data were examined by univariate and logistic regression analyses. Results—1814 (75.3%) pregnant women were normal glucose tolerant, while 596 (24.7%) were diagnosed with GDM. Spearman univariate analysis demonstrated a correlation between FTCT values and subsequent GDM diagnosis (ρ = 0.048, p = 0.018). The logistic regression analysis showed that women with a FTCT <1:10000 had a major GDM risk (p = 0.016), similar to women with a PAPP-A <1 multiple of the expected normal median (MoM, p = 0.014). Conversely, women with β-hCG ≥2.0 MoM had a reduced risk of GDM (p = 0.014). Conclusions—Our findings indicate that GDM susceptibility increases with fetal aneuploidy risk, and that FTCT and its related maternal serum parameters can be used as early predictors of GDM.

Population-Based Trends in Invasive Prenatal Diagnosis for Ultrasound-Based Indications: Two Decades of Change From 1994 to 2016

(Abstracted from Ultrasound Obstet Gynecol 2019;53:503–511) Ultrasound examination, particularly the midtrimester morphology scan, and fetal chromosome analysis provide opportunities for specialist assessment, genetic testing, and perinatal management of pregnancies complicated by fetal anomalies. Advances such as fetal nuchal translucency measurement as part of the combined first-trimester screening (CFTS) test for trisomies 21, 13, and 18; maternal plasma cell-free (cf) DNA-based screening for common aneuploidies; and prenatal diagnosis with chromosomal microarray (CMA) analysis have helped further genetic testing of fetal anomalies.

What can be inferred if the fetal increased nuchal translucency thickness changes?

Objectives: To study the perinatal outcomes in the women who’s the different changes of an increased fetal nuchal translucency thickness.Methods: Since 2013–2016, the pregnant women whose initial measurement of fetal nuchal translucency (NT) ≥ 3.5 mm would be invited to scan the NT again after a week. Between the two measurements over 1 mm, defined as “change”. According to different results between two measurements, they were divided into three groups: unchanged group, thinned group and thicken group. To follow-up and compare the perinatal outcomes among the three groups.Results: One hundred seventy-five cases met our criteria and were retrieved in the study. There are 90 cases of the unchanged group, 60 cases of the thinned group and 25 cases of thicken group. Among three groups, the chromosomal abnormalities rate is 11.11, 21.67, and 60.0% respectively, the structure abnormalities rate is 10.0, 8.51, and 20.0%, the normal delivery rate is 76.67, 70.0, and 28.0%. There all have the significantly differences in statistics except the structure abnormalities rate.Conclusion: The chromosomal abnormalities rate and adverse perinatal outcome rate were worse if NT continues to thicken. However, the perinatal outcome of the NT thinned group is no better than the NT unchanged case.

Quels sont l’objectif réel et la portée du dépistage des aneuploïdies ?

In France, the recommended method for Down syndrome screening is the first trimester combined test, the risk assessment, based on maternal age, ultrasound measurement of fetal nuchal translucency and maternal serum markers (free β-hCG and PAPP-A). The Down syndrome detection rate is 78.7% at a screen positive rate of 5%. However, the best screening test is the integrated test using a combination of first trimester combined test and second trimester quadruple test (serum α-fetoprotein, human chorionic gonadotropin, unconjugated E3, and dimeric inhibin-A) and being able to achieve a detection rate for Down syndrome of approximately 96% at a screen-positive rate of 5%. In recent years, the isolation of small fragments of “fetal” cell-free DNA in the maternal blood dramatically changed the screening strategy paradigm allowing a Down syndrome detection rate and false positive rate of 99.2 and 0.09%, respectively. However, aneuploidy screening based on cell-free DNA presents two major limitations which must be taken into account because they considerably limit its benefit: (i) not every woman will receive an interpretable result and that those who fail to receive a result are at increased risk for fetal aneuploidy: whether an inconclusive result is treated as screen positive or screen negative affects the overall detection rate (sensitivity) and false-positive rate (specificity) of the test; (ii) the limited number of targeted aneuploidies (trisomies 21, 18, 13 and common sex chromosome aneuploidies) in contrast to conventional noninvasive screening which is also able to detect rare aneuploidies, duplications, deletions, and other structural rearrangements. Of course, genetic counseling has to include a discussion about benefits and limitations of aneuploidy screening based on cell-free DNA. However, it should not be considered as a new screening test to substitute for conventional noninvasive screening. Moreover, if the ultimate goal is to deliver the most information about potential risk of various chromosomal abnormalities associated with adverse perinatal outcomes, then current cell-free DNA screening strategies may not be the best approach. These data highlight the limitations of cell-free DNA screening and the importance of a clear and fair information during pretest genetic counseling about benefits and limitations of any prenatal noninvasive screening (whether conventional or by cell-free DNA), but also about risks and benefits of invasive diagnostic procedures (in first- or second-line), especially since the cytogenetic analysis with chromosomal microarray analysis has improved the detection of genome microdeletions and microduplications (variants of the copy number) that can not be detected by standard cytogenetic analysis.

Fetal nuchal translucency in severe congenital heart defects: experiences in Northern Finland

Objective: To evaluate the performance of first-trimester measurement of fetal nuchal translucency (NT) in the detection of severe congenital heart defects (CHDs).Methods: During the study period of 1 January 2008 – 31 December 2011, NT was measured in 31,144 women as a part of voluntary first-trimester screening program for Down’s syndrome in Northern Finland. NT was measured by personnel trained on the job by the experienced staff. No certification or annual audits are required in Finland. However, the recommendation is that the examiner should perform 200 scans on average per year. Severe CHD was classified as a defect requiring surgery in the first year of life or a defect that led to the termination of the pregnancy. All severe CHDs diagnosed during the study period in Northern Finland could not be included in this study since all women did not participate in the first-trimester screening and some cases were missing important data.Results: Fourteen (17.7%) out of 79 severe CHDs were found with NT cutoff of 3.5 mm. Amongst the 79 severe CHD cases, there were 17 chromosomal abnormalities. With NT cutoffs of 2.0 and 1.5 mm the detection rates would have increased to 25.3% (n = 20) and 46.8% (n = 37). Using a randomly selected control group of 762 women with normal pregnancy outcomes, false positive rates (FPRs) were calculated. For NT cutoffs of 1.5, 2.0 and 3.5 mm, the FPRs were, 18.5, 3.3 and 0.4%, respectively.Conclusions: A greater than 3.5 mm NT measurement in the first-trimester ultrasound is an indication to suspect a fetal heart defect but its sensitivity to detect severe CHD is poor. In our study, only 17.7% of severe CHDs would have been detected with an NT cutoff of 3.5 mm.

Prediction of Placenta Abrubtion without Risk Factors [Risk Faktoru Olmadan Meydana Gelen Plasenta Dekolmani Onceden Ongorulebilir mi?

Many studies in the literature have shown the assosiation between serum analits of first and second trimester screening test with intra uterin growth retardation and abrubtio placenta.However these markers role in the predicting of placental abrubtion is unclear. We aimed in this study,is there any relationship between placental abrubtion without risk factors and first and seconder trimester screening markers. 120 term pregnant women who gave birth by Caesarean section has been included in this retrospective study, patients and controls were compared for the 1st and 2nd trimester serum markers levels. Fetal nuchal translucency measurements were significantly higher in the study group than control group. This study emphasizes that increased fatal nuchal transluency is more important than serum biomarkers of first and second trimester screening tests.

Detection of Fetal Chromosomal Anomalies

In the Netherlands, first-trimester combined testing (FCT), including the measurement of fetal nuchal translucency (NT) thickness, has been offered to all pregnant women since 2007. Since 2014, noninvasive prenatal testing (NIPT) has been offered to women with an elevated trisomy risk determined by FCT. Because high NT is associated with other anomalies and genetic syndromes beyond trisomies 13, 18, and 21, NIPT is not offered when NT is 3.5 mm or greater. As NIPT becomes less expansive and more widely available, it may replace FCT. This study examines the question as to whether NIPT should replace FCT, how many pregnancies with fetal chromosomal anomalies other than trisomies 13, 18, and 21 and with NT of 3.5 mm or greater would remain undetected. This retrospective cohort study used data from the Department of Obstetrics of the University Medical Center Utrecht, including all fetuses referred because of an NT of 3.5 mm or greater between January 2008 and January 2013. All pregnancies had NT measurements, and risks for trisomies 13, 18, and 21 were calculated. Patients offered amniocentesis or chorionic villus sampling and second-trimester ultrasound if they had NT of 3.5 mm or greater. Outcome for pregnancy included born alive–normal outcome, born alive–abnormal outcome, termination of pregnancy, or fetal demise. Of 25,057 NT measurements obtained on singleton pregnancies during the study period, 225 (0.9%) had an NT of 3.5 mm or greater. Of those, prenatal array analysis and/or karyotyping were performed in 221 (93.8%). A chromosomal anomaly was identified in 103 (48.8%) of the 225 fetuses/newborns, and in 79 (77.7%), the anomaly was trisomy 13, 18, or 21. Of the remaining 24 pregnancies, 11 resulted in fetal demise, 10 had detection of fetal ultrasound anomalies, and 3 had a chromosomal anomaly, but normal ultrasound findings and no fetal demise. Of those, 1 anomaly was a 47,XXX karyotype, 1 had 2 de novo deletions, and 1 had a paternal deletion causing Prader-Willi syndrome. In the cohort of 25,057 pregnancies, a protocol of NIPT rather than NT measurement and a second-trimester ultrasound would have missed a chromosomal anomaly in only 0.01%. If NIPT is offered to all pregnant women, the value of NT measurement in detecting fetal chromosomal anomalies would be small.

A prospective study to assess the clinical impact of interobserver reliability of sonographic measurements of fetal nuchal translucency and crown-rump length on combined first-trimester screening.

OBJECTIVE:To examine the interobserver variability for fetal biometric parameters and to focus on how this variability affects the combined first-trimester screening test results.METHODS:Sixty-four singleton pregnancies who were scheduled for combined first-trimester screening were investigated. Two experienced sonographers performed all examinations at the same visit. The risk calculations of screening were performed according to the each operator’s individual ultrasonographic fetal measurements. Interobserver variability in measurements of fetal nuchal translucency (NT) and crown-rump length (CRL) and the effect of this interobserver variability on the screening results were assessed.RESULTS:Interobserver reliabilities for NT and CRL were 0.687 and 0.945 (p<0.001), respectively. Interobserver reliability coefficients for trisomy 21 and trisomy 13/18 were 0.945 and 0.963 (p<0.001), respectively.CONCLUSION:Our study demonstrated quite high interobserver reliability for CRL measurement, while interobserver agreement for NT was lower. Despite this lower reliability and agreement for NT measurement, interobserver reliability for chromosomal abnormalities was quite high.

Impact of Cell-Free Fetal DNA Screening on Patients' Choice of Invasive Procedures after a Positive California Prenatal Screen Result.

Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively). Women with positive California Prenatal Screening Program (CPSP) results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff-) DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease.

Risk of selected structural abnormalities in infants after increased nuchal translucency measurement

We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural birth defects in euploid infants. Included were 75,899 singleton infants without aneuploidy or critical congenital heart defects born in California in 2009 through 2010 with NT measured between 11-14 weeks of gestation. Logistic binomial regression was employed to estimate relative risks (RRs) and 95% confidence intervals (CIs) for occurrence of birth defects in infants with an increased NT measurement (by percentile at crown-rump length [CRL] and by ≥3.5 mm compared to those with measurements <90th percentile for CRL). When considered by CRL adjusted percentile and by measurement ≥3.5 mm, infants with a NT ≥95th percentile were at risk of having ≥1 major structural birth defects (any defect, RR, 1.6; 95% CI, 1.3-1.9; multiple defects, RR, 2.1; 95% CI, 1.3-3.4). Infants with a NT measurement ≥95th percentile were at particularly high risk for pulmonary, gastrointestinal, genitourinary, and musculoskeletal anomalies (RR, 1.6-2.7; 95% CI, 1.1-5.4). Our findings demonstrate that risks of major pulmonary, gastrointestinal, genitourinary, and musculoskeletal structural birth defects exist for NT measurements ≥95th percentile. The ≥3-fold risks were observed for congenital hydrocephalus; agenesis, hypoplasia, and dysplasia of the lung; atresia and stenosis of the small intestine; osteodystrophies; and diaphragm anomalies.

2.1 Estimation of detection rates of aneuploidy using an approach based on nuchal translucency and non-invasive prenatal testing (NIPT)

ObjectivesTo investigate the detection rates of aneuploidy using nuchal translucency (NT) and non-invasive prenatal testing (NIPT).MethodsA retrospective cohort study including 5306 pregnancies that underwent chorionic villus sampling (CVS) for full...

Fetal right ventricular contraction and relaxation times at 11–13 weeks' gestation on speckle tracking imaging

To examine the contraction time and relaxation time of the right ventricle at 11-13 weeks' gestation in trisomy 21 and euploid fetuses by speckle tracking ultrasound imaging. Measurement of fetal nuchal translucency (NT) thickness, Doppler assessment for tricuspid regurgitation and reversed A-wave in the ductus venosus (DV) and fetal echocardiography were performed immediately before chorionic villus sampling for fetal karyotyping at 11-13 weeks' gestation. Digital videoclips of the four-chamber view of the fetal heart were recorded and analyzed offline using speckle tracking imaging software. The contraction time, which is the time between the highest and lowest peaks in the right ventricular area, and relaxation time, which is the time between the lowest and the subsequent highest area peak, were measured and expressed as a percentage of the duration of the cardiac cycle. Values in trisomy 21 and euploid fetuses were compared. Mean contraction time and relaxation time in 119 euploid fetuses were 52.1% (95% CI, 51.6-52.8%) and 47.8% (95% CI, 47.2-48.4%), respectively. In 21 trisomy 21 fetuses, mean contraction time was significantly higher (57.0% (95% CI, 55.2-58.9%); P<0.01) and relaxation time lower (42.9% (95% CI, 41.1-44.8%); P<0.01) than in euploid fetuses. Multiple regression analysis showed that significant contributions to contraction time and relaxation time were provided by fetal karyotype, NT and tricuspid regurgitation, but not by reversed A-wave in the DV or the presence of a cardiac defect. In first-trimester fetuses with trisomy 21 and in euploid fetuses with increased NT and tricuspid regurgitation there is evidence of increased right ventricular contraction time and shortening of the relaxation time.

Intra‐operator and inter‐operator reliability of manual and semiautomated measurement of fetal nuchal translucency: a cross sectional study

The goal of this study was to examine the intra-operator and inter-operator differences of the manual and semiautomated nuchal translucency (NT) measurements and to evaluate if these differences alter women's risk status. A cross sectional study was performed. Two operators obtained manual and semiautomated NT measurements of 153 NT images. The maximal acceptable difference in NT measurements within and between operators was 0.15 mm. Intra and inter-operator differences were analyzed by the paired Student's t-test and homogeneity of variances by the Levene's test. Intra-operator and inter-operator agreement were quantified with Bland and Altman's limits of agreement, and changes in women's risk status were tested with the binomial test. Intra-operator agreement was high for each of the measurement methods. Operator 1 had lower SDS for manual measurements. Conversely, operator 2 had lower SDS of the differences for semiautomated measurements, although the SD never reached the same level as operator 1. Inter-operator agreement was highest for the semiautomated measurements. Changes in risk status occurred between the manual and inner-middle method resulting in different clinical policies in up to 1 out of 20 cases. Well-trained operators do not seem to benefit from the use of the semiautomated measurement methods.

The impact of inherited thrombophilia on first trimester combined aneuploidy screening test parameters

Objective: To determine whether inherited thrombophilia affects components of first trimester combined aneuploidy screening test.Method: A case–control study was performed between January 1st and December 31st 2011, at a tertiary referral hospital. Singleton pregnancies with inherited thrombophilia that underwent first trimester (11–13+6 week) combined aneuploidy screening test were included in the study. Pregnancy associated plasma protein-A (PAPP-A), free beta-human chorionic gonadotropin (fbHCG) and fetal nuchal translucency (NT) were compared between the study group and controls.Results: Within the study period, 15 881 women with singleton pregnancies had a combined first trimester aneuploidy screening test at our institution. Among these, 207 women met the inclusion criteria. A control group that comprised 625 women with similar gestational age was generated, using a 1:3 ratio. PAPP-A levels were significantly higher, whereas fbHCG levels and fetal NT measurements were lower in women with inherited thrombophilia (p < 0.001).Conclusion: Our study suggested that PAPP-A, free b-HCG and NT MoM levels display alterations in women with inherited thrombophilia. Future trials are needed to assess the need for readjustment of risk in these patients.

First‐trimester detection of major cardiac defects with the use of ductus venosus blood flow

To assess the best method of combining fetal nuchal translucency (NT) and ductus venosus (DV) blood flow measurements in the detection of major cardiac defects in chromosomally normal fetuses during the first-trimester scan. During an 8-year period NT and DV blood flow were routinely assessed at 11-14 weeks' gestation. Only chromosomally normal singleton pregnancies were included in the study. When a cardiac defect was suspected, or when increased fetal NT and/or absent or reversed (AR) A-wave in the DV was observed, early fetal echocardiography was offered. Data on routine second- and third-trimester scans, neonatal follow-up or postmortem examination were obtained from hospital records. The detection and false-positive rates for all major cardiac defects were calculated for several screening strategies, including: NT or DV pulsatility index for veins (DV-PIV) above a fixed normal centile; AR A-wave; risk based on NT and DV-PIV or A-wave velocity above a fixed normal centile; and combinations of these strategies. The study population included 37 chromosomally normal fetuses with a major cardiac defect and 12 799 unaffected pregnancies. Fetal NT above the 95(th) or the 99(th) centile and AR A-wave was observed in 40, 27 and 39% of the fetuses with major cardiac defects, respectively. A 47% detection rate with a 2.7% false-positive rate was obtained when AR A-wave or NT above the 99(th) centile was used as the selection criterion. Half of major fetal cardiac defects could be detected in the first trimester if NT and DV Doppler are used to select 2.7% of the general pregnant population for extended fetal echocardiography.