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Background: Women with a history of previous cesarean delivery, presenting with a placenta previa, have become the largest group with the highest risk for placenta previa accreta.Objective: The objective of the study was to evaluate the accuracy of ultrasound imaging in the prenatal diagnosis of placenta accreta and the impact of the depth of villous invasion on management in women presenting with placenta previa or low-lying placenta and with 1 or more prior cesarean deliveries.Study Design and Data Sources: We searched PubMed, Google Scholar, clinicalTrials.gov, and MEDLINE for studies published between 1982 and November 2016.Study Eligibility Criteria: Criteria for the study were cohort studies that provided data on previous mode of delivery, placenta previa, or low-lying placenta on prenatal ultrasound imaging and pregnancy outcome. The initial search identified 171 records, of which 5 retrospective and 9 prospective cohort studies were eligible for inclusion in the quantitative analysis.Study Appraisal and Synthesis Methods: The studies were scored on methodological quality using the Quality Assessment of Diagnostic Accuracy Studies tool.Results: The 14 cohort studies included 3889 pregnancies presenting with placenta previa or low-lying placenta and 1 or more prior cesarean deliveries screened for placenta accreta. There were 328 cases of placenta previa accreta (8.4%), of which 298 (90.9%) were diagnosed prenatally by ultrasound. The incidence of placenta previa accreta was 4.1% in women with 1 prior cesarean and 13.3% in women with ≥2 previous cesarean deliveries. The pooled performance of ultrasound for the antenatal detection of placenta previa accreta was higher in prospective than retrospective studies, with a diagnostic odds ratios of 228.5 (95% confidence interval, 67.2-776.9) and 80.8 (95% confidence interval, 13.0-501.4), respectively. Only 2 studies provided detailed data on the relationship between the depth of villous invasion and the number of previous cesarean deliveries, independently of the depth of the villous invasion. A cesarean hysterectomy was performed in 208 of 232 cases (89.7%) for which detailed data on management were available. Positive correlations were found in the largest prospective studies between the cumulative rates of the more invasive forms of accreta placentation and the sensitivity and specificity of ultrasound imaging but not with diagnostic odds ratio values. We found no data on the ultrasound screening of placenta accreta at the routine midtrimester ultrasound examination from the nonexpert ultrasound units.Conclusion: Planning individual management for delivery is possible only with accurate evaluation of prenatal risk of accreta placentation in women presenting with a low-lying placenta/previa and a history of prior cesarean delivery. Ultrasound is highly sensitive and specific in the prenatal diagnosis of accreta placentation when performed by skilled operators. Developing a prenatal screening protocol is now essential to further improve the outcome of this increasingly more common major obstetric complication. [ABSTRACT FROM AUTHOR]

Introduction: Our aim was to evaluate the intra- and inter-observer variability and the impact of operator experience on the estimation of fetal weight (EFW) as measured by 2-dimensional ultrasound (2D-US) and magnetic resonance (MR) imaging.Material and Methods: We estimated fetal weight in 46 singleton pregnancies at 35.6-41.4 weeks gestation using 2D-US according to the Hadlock formula and using MR imaging according to the equation developed by Baker. Each examination was performed twice, once by an inexperienced operator and once by an experienced operator. The MR-EFW was derived from the planimetric measurement of fetal body volume (FBV) using an assisted semi-automated method. Intra- and inter-observer variability was evaluated by Bland-Altman analysis. Regression analysis was used to investigate the effect of maternal BMI, delivery weight, diabetes and fetal gender on the differences in US-EFW between the inexperienced and experienced operators.Results: US-EFW showed higher intra-observer variability than MR-EFW, irrespective of operator experience. The 95% limits of agreement of MR were narrower compared with those of the US measurements. Similarly, US-EFW showed higher inter-observer variability than MR-EFW. MR-EFW improvement over 2D-US for the limits of agreement was 77.9% for intra-observer variability and 74.5% for inter-observer variability. Regression analysis showed that the differences between US-EFW measurements were not related to any of the tested variables.Conclusions: Operator experience has a marginal impact on the variability of US-EFW and no impact on MR-EFW variability. The variability in US-EFW measurements is unpredictable. [ABSTRACT FROM AUTHOR]

Background: Twin pregnancies are at higher risks of velamentous cord insertion and vasa previa. In vitro fertilization is an additional risk factor of abnormal cord insertion and thus the incidence of vasa previa is likely to increase over the next decades.Objective: We sought to evaluate the role of ultrasound imaging in optimizing the management of twins diagnosed with vasa previa antenatally.Study Design: We searched our database for twin pregnancies diagnosed with vasa previa and managed antenatally using measurements of cervical length and performed a systematic review of articles that correlated prenatal diagnosis of vasa previa in twins and pregnancy outcome. PubMed and MEDLINE were searched for studies published from 1987 through October 20, 2016, using specific medical subject heading terms, key words, and their combination. The primary eligibility criteria were articles that correlated prenatal ultrasound imaging of vasa previa and pregnancy outcome in twins. The secondary eligibility criteria was the use of cervical length in the management of twin pregnancies diagnosed antenatally with vasa previa. Two authors independently assessed inclusion criteria, data extraction, and analysis. The final selection included 3 case report series, 9 retrospective cohort studies, and 1 retrospective case-control study of vasa previa diagnosed prenatally and confirmed at birth in twin pregnancies.Results: The search of our databases identified 6 cases of dichorionic-diamniotic twins and 1 case of monochorionic-diamniotic twins diagnosed prenatally with vasa previa between 22-29 weeks and managed using cervical length. Two cases were delivered by emergency because of rapid changes in cervical length in one and bleeding on placenta previa in the other at 33 and 30 weeks, respectively. The systematic review identified data on 56 cases. The incidence of twin pregnancies diagnosed antenatally with vasa previa in the cohort and case-control studies was 11.0%. Data on chorionicity were available in only 34 cases and cervical length measurements were used by only the authors of 2 case reports and 4 cohort studies. Velamentous cord insertion was the most common additional ultrasound findings in twins presenting with vasa previa in both our series and the systematic review.Conclusion: Vasa previa is associated with specific prenatal and obstetric complications with different outcomes in singletons compared to twins. Data on the diagnosis and management of vasa previa in twin pregnancies are limited but there is enough evidence to warrant guidelines for targeted screening. To enable the development of efficient management protocols tailored to the need of individual cases, future studies of the screening, diagnosis, and management of vasa previa should be prospective and multicentric with detailed data on twins including chorionicity and use of cervical length. [ABSTRACT FROM AUTHOR]

The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates.Exclusion Criteria: case reports, non English language, data reported in graphs or percentage. From each article: sample size, type of malformation, indication for TOP, autopsy findings. Fetal anomalies were grouped in central nervous system (CNS), genitourinary (GU), congenital heart defects (CHD), gastrointestinal (GI), thorax, limbs, skeleton, genetics (TOP for abnormal karyotype), multiples (TOP for multiple severe malformations for which a single indication for TOP/stillbirth could not be identified). Correspondence between autopsy and ultrasound was defined as agreement (same diagnosis), additional (additional findings undetected by ultrasound), unconfirmed (false positive and false negative ultrasound). PRISMA guidelines were followed. From 19 articles, 3534 fetuses underwent autopsy, which confirmed prenatal ultrasound in 2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and unconfirmed prenatal ultrasound in 329 (9.2%) fetuses. The latter group consisted of 3.2% false positive and 2.8% false negative cases. The additional findings changed the final diagnosis in 3.8% of cases. The most frequent indication for TOP/stillbirth was CNS anomalies (36.3%), whereas thorax anomalies represented the less frequent indication (1.7%). The highest agreement between autopsy and prenatal ultrasound was observed in CNS (79.4%) and genetics (79.2%), followed by GU anomalies (76.6%), skeleton (76.6%), CHD (75.5%), thorax (69.7%); GI (62.6%), multiple (37.0%), limbs (23.3%). In spite of the high agreement between prenatal ultrasound and autopsy, fetal examination is mandatory because in a minority of cases it discloses additional findings or changes the final diagnosis and genetic counselling. [ABSTRACT FROM AUTHOR]

Objective: Atrioventricular septal defect is associated with a high risk of a chromosomal abnormality, particularly trisomy 21. The aim of this study is to assess the rate of trisomy 21 in fetuses diagnosed with an atrioventricular septal defect and to examine the influence of prior screening on the rate of trisomy 21.Methods: Electronic ultrasound database was searched to identify fetuses diagnoses with an atrioventricular septal defect from 2002 to 2014. Rate of trisomy 21 and other aneuploidies was calculated among fetuses with normal situs. The prevalence of trisomy 21 and other aneuploidies was assessed in women with low and high first trimester risk for trisomy 21, using a cut-off value of 1:150 and 1:250.Results: A total 110 fetuses with a diagnosis of atrioventricular septal defect were identified. Among the 98 fetuses with normal situs, the prevalence of trisomy 21 was 46% (95% CI: 36-56%). Using a 1:150 threshold, the rate of trisomy 21 within the low-risk group was 41% (95% CI: 27-57%) while in the high-risk group it was 70% (95% CI: 52-83%), significantly higher than in the low risk group (p=0.028). Similar results were obtained when the 1:250 threshold was applied (66% versus 41%, p=0.055).Conclusions: The rate of trisomy 21 among fetuses identified with an atrioventricular septal defect in the second trimester is high even in those that undergo first trimester combined screening. Some fetuses with a high-risk screening result show a normal karyotype. Therefore, an offer of an invasive procedure to check fetal karyotyping is indicated. Knowledge of these rates may be helpful for parents in the decision making process. [ABSTRACT FROM AUTHOR]

Background: Determining the depth of villous invasiveness before delivery is pivotal in planning individual management of placenta accreta. We have evaluated the value of various ultrasound signs proposed in the international literature for the prenatal diagnosis of accreta placentation and assessment of the depth of villous invasiveness.Objective: We undertook a PubMed and MEDLINE search of the relevant studies published from the first prenatal ultrasound description of placenta accreta in 1982 through March 30, 2016, using key words "placenta accreta," "placenta increta," "placenta percreta," "abnormally invasive placenta," "morbidly adherent placenta," and "placenta adhesive disorder" as related to "sonography," "ultrasound diagnosis," "prenatal diagnosis," "gray-scale imaging," "3-dimensional ultrasound", and "color Doppler imaging."Study Design: The primary eligibility criteria were articles that correlated prenatal ultrasound imaging with pregnancy outcome. A total of 84 studies, including 31 case reports describing 38 cases of placenta accreta and 53 series describing 1078 cases were analyzed. Placenta accreta was subdivided into placenta creta to describe superficially adherent placentation and placenta increta and placenta percreta to describe invasive placentation.Results: Of the 53 study series, 23 did not provide data on the depth of villous myometrial invasion on ultrasound imaging or at delivery. Detailed correlations between ultrasound findings and placenta accreta grading were found in 72 cases. A loss of clear zone (62.1%) and the presence of bridging vessels (71.4%) were the most common ultrasound signs in cases of placenta creta. In placenta increta, a loss of clear zone (84.6%) and subplacental hypervascularity (60%) were the most common ultrasound signs, whereas placental lacunae (82.4%) and subplacental hypervascularity (54.5%) were the most common ultrasound signs in placenta percreta. No ultrasound sign or a combination of ultrasound signs were specific of the depth of accreta placentation.Conclusion: The wide heterogeneity in terminology used to describe the grades of accreta placentation and differences in study design limits the evaluation of the accuracy of ultrasound imaging in the screening and diagnosis of placenta accreta. This review emphasizes the need for further prospective studies using a standardized evidence-based approach including a systematic correlation between ultrasound signs of placenta accreta and detailed clinical and pathologic examinations at delivery. [ABSTRACT FROM AUTHOR]

Objectives: To establish a prediction model for fetal congenital heart disease (CHD) that could facilitate selective fetal echocardiography screening for diabetic women, and to provide cost analysis of selective versus global screening of these women.Study Design: A historical cohort study included women with pre-gestational diabetes who received perinatal care at Mayo Clinic, Minnesota from 2007 through 2013. Anatomical scans and fetal echocardiograms were reviewed and charts for postnatal outcomes were abstracted. Logistic regression models were utilized to identify predictors of CHD. Cost of global versus selective screening was estimated using cost per case detected.Results: A cohort of 152 women was included. Abnormal anatomy scan was reported in five (3.3%). Among 51 (33.6%) who had fetal echocardiography, eight (15.7%) had abnormal findings. Postnatal echocardiography was conducted in 36 neonates, 12 had abnormalities. Only first trimester HbA1c was independent predictor with observed incidence of CHD of 1.8, 14.3, and 40% and HbA1c of <8, 8-10, and >10% respectively. Global screening strategy missed 22% of fetal cardiac abnormalities, while selective screening missed 33%.Conclusions: According to our probability model, selective screening based on HbA1c and/or anatomic surveys seems to be an accurate and cost effective strategy for prenatal diagnosis of CHD among diabetic pregnancies. [ABSTRACT FROM AUTHOR]

Objective: Non-invasive prenatal testing (NIPT) is increasingly being used in prenatal aneuploidy screening. The objective of this study was to assess the positive predictive value in our cohort of 68 cases with positive NIPT result. In addition, we wondered if the use of NIPT in cases with ultrasound abnormalities is appropriate, given the limited number of chromosomes investigated.Design: We performed confirmative invasive testing using karyotyping, fluorescence in situ hybridization (FISH) and/or high-resolution chromosomal microarray analysis.Results: In line with the published data, the positive NIPT result was confirmed in 64.7% of cases. Inconclusive and negative NIPT results followed by cytogenetically pathologic findings were encountered in three and in five cases, respectively. Four of the five fetuses with negative NIPT but pathologic cytogenetic findings were born with several malformations and diagnosed right after birth with severe genetic conditions. Of note, in all of those four cases, NIPT was offered despite the finding of major fetal ultrasound abnormalities and despite the fact that the family would not have opposed invasive testing or pregnancy termination.Conclusion: More education of health care providers and caution in counseling and interpretation of test results are needed in order to meet the challenges that this new test, which enriches our diagnostic options in prenatal testing, poses. [ABSTRACT FROM AUTHOR]

Objectives: The purpose of this study was to evaluate the clinical characteristics, imaging features, pregnancy complications, prenatal management of patients with placenta chorioangioma. Methods: This was a retrospective study of 26 cases with histologically proven placenta chorioangima, in which the natural history, pregnancy complications, and clinical characteristics including ultrasonography were evaluated. Results: Twelve of the twenty-six cases had a wide range of maternal-fetal complications including polyhydramnios (7), fetal growth restriction (3), fetal distress (2), pre-eclampsia (3), fetal anemia-thrombocytopenia (2), congestive heart failure (1) and fetal abnormality (1). Conclusions: Placenta chorioangioma was associated with series of pregnancy complications such as polyhytramnios, premature delivery, maternal pre-eclampsia, fetal growth restriction, fetal distress, even fetal anemia and cardiomegaly. With regular prenatal examination, necessary treatment, and timely delivery, the majority had a good pregnancy outcome. [ABSTRACT FROM AUTHOR]

Objective: Overproduction of cell-free fetal hemoglobin (HbF) in the preeclamptic placenta has been recently implicated as a new etiological factor of preeclampsia. In this study, maternal serum levels of HbF and the endogenous hemoglobin/heme scavenging systems were evaluated as predictive biomarkers for preeclampsia in combination with uterine artery Doppler ultrasound.Study Design: Case-control study including 433 women in early pregnancy (mean 13.7weeks of gestation) of which 86 subsequently developed preeclampsia. The serum concentrations of HbF, total cell-free hemoglobin, hemopexin, haptoglobin and α1-microglobulin were measured in maternal serum. All patients were examined with uterine artery Doppler ultrasound. Logistic regression models were developed, which included the biomarkers, ultrasound indices, and maternal risk factors.Results: There were significantly higher serum concentrations of HbF and α1-microglobulin and significantly lower serum concentrations of hemopexin in patients who later developed preeclampsia. The uterine artery Doppler ultrasound results showed significantly higher pulsatility index values in the preeclampsia group. The optimal prediction model was obtained by combining HbF, α1-microglobulin and hemopexin in combination with the maternal characteristics parity, diabetes and pre-pregnancy hypertension. The optimal sensitivity for all preeclampsia was 60% at 95% specificity.Conclusions: Overproduction of placentally derived HbF and depletion of hemoglobin/heme scavenging mechanisms are involved in the pathogenesis of preeclampsia. The combination of HbF and α1-microglobulin and/or hemopexin may serve as a prediction model for preeclampsia in combination with maternal risk factors and/or uterine artery Doppler ultrasound. [ABSTRACT FROM AUTHOR]

Objective: To investigate whether first trimester combined screening for major fetal trisomies is influenced by assisted reproduction techniques from blastocyst transfer, with or without cryopreservation.Study Design: retrospective case-control analysis involving 298 singleton pregnancies with euploid fetuses recruited between 2012 and 2014. Forty-seven women conceived with fresh blastocysts from in vitro fertilization cycles (fresh-blasto), 51 with frozen-thawed blastocysts (frozen-blasto) and 200 were natural conceptions (controls). All cases underwent ultrasound assessment at 11(+0)-13(+6) weeks with measurements of crown rump length, nuchal translucency, free β-hCG and PAPP-A concentrations. The outcome of pregnancy was recorded (gestational age at birth, birth weight, obstetric complications).Results: Baseline characteristics and pregnancy outcomes did not differ substantially among the study groups. The median delta nuchal translucency was significantly higher both in frozen-blasto group (median: 0.27mm; Interquartile Range [IQR]: 0.02-0.44; p<0.001) and in fresh-blasto group (median: 0.17mm; IQR: 0.04-0.39; p=0.014) as compared to control group (median: 0.06mm; IQR: -0.08 to 0.20), whereas it was not different in the frozen-blasto compared to the fresh-blasto group. The median free β-hCG multiples of the median (MoMs) was significantly higher both in frozen-blasto group (median 1.15; IQR 0.83-2.11; p=0.001) and in fresh-blasto group (median 0.95; IQR 0.52-1.48; p=0.001) as compared to control group (median 0.99; IQR 0.57-1.26), and it was also higher in frozen-blasto group compared to fresh-blasto group (p<0.001). The three groups showed no significant differences in the median PAPP-A MoMs. The median delta crown rump length was also not significantly different among the three groups.Conclusions: in assisted reproduction technique pregnancies from blastocyst transfer, with or without cryopreservation, both the nuchal translucency measurement and free β-hCG concentration are higher as compared to spontaneous conceptions, whereas PAPP-A does not show any significant difference. These features are apparently unrelated to the outcome of pregnancy and may be due to alterations or delays in embryogenesis or placentation with potential relevance for the screening test performance. [ABSTRACT FROM AUTHOR]

Objective: To assess the clinical value of prenatal diagnosis of fetuses with increased nuchal translucency (NT) using an approach based on quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray (CMA).Study Design: From January 2013 to October 2014, we included 175 pregnancies with fetal NT ≥ 3.5mm at 11-13 weeks' gestation who received chorionic villus sampling. QF-PCR was first used to rapidly detect common aneuploidies. The cases with a normal QF-PCR result were analyzed by CMA.Results: Of the 175 cases, common aneuploidies were detected by QF-PCR in 53 (30.2%) cases (30 cases of trisomy 21, 12 cases of monosomy X, 7 cases of trisomy 18, 3 cases of trisomy 13 and 1 case of 47, XXY). Among the 122 cases with a normal QF-PCR result, microarray detected additional pathogenic copy number variants (CNVs) in 5.7% (7/122) of cases. Four cases would have expected to be detectable by conventional karyotyping because of large deletions/duplications (>10 Mb), leaving three cases (2.5%; 3/118) with pathogenic CNVs only detectable by CMA.Conclusion: It is rational to use a diagnostic strategy in which CMA is preceded by the less expensive, rapid, QF-PCR to detect common aneuploidies. CMA allows detection of a number of pathogenic chromosomal aberrations in fetuses with a high NT. [ABSTRACT FROM AUTHOR]

Objective: To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome.Study Design: This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes.Results: Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb.Conclusion: Prenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the efficacy of the sonographic cardiothoracic ratio (CTR) in early pregnancy for the prediction of fetal haemoglobin (Hb) Bart's disease.Study Design: Over a 1.5-year period at a Chinese tertiary obstetric centre, women at risk of Hb Bart's disease were given the option of a non-invasive approach to exclude an affected pregnancy between 11 weeks and 13 weeks and 6 days of gestation, with a routine rescan after a 2-week interval. The fetal CTR, a sonographic marker, was assessed, and invasive testing followed in cases of fetal cardiomegaly. The diagnosis of fetal Hb Bart's disease was based on DNA analysis from chorionic villus sampling.Results: Of 154 at-risk cases studied, five cases (four at 11 weeks of gestation) were subjected to direct invasive testing because of an unsatisfactory scan. Of the remaining 149 cases, non-invasive ultrasound examinations were performed successfully. Thirty-four (22.8%) affected pregnancies were revealed, including one picked up on rescan. The sensitivity and specificity of the non-invasive approach were 97.1% and 100%, respectively. The need for an invasive test was reduced by 74.7%, and all affected pregnancies except one were diagnosed before 14 weeks of gestation.Conclusion: CTR can differentiate reliably between pregnancies with and without Hb Bart's disease. This non-invasive approach for the exclusion of Hb Bart's disease can be used in early pregnancy. [ABSTRACT FROM AUTHOR]

The fetal face is an essential source of information in the assessment of congenital malformations and neurological anomalies. Disturbance in early stages of development can lead to a wide range of effects, from subtle changes in facial and neurological features to characteristic facial shapes observed in craniofacial syndromes. Three-dimensional ultrasound (3D US) can provide more detailed information about the facial morphology of the fetus than the conventional 2D US, but its use for pre-natal diagnosis is challenging due to imaging noise, fetal movements, limited field-of-view, low soft-tissue contrast, and occlusions. In this paper, we propose the use of a novel statistical morphable model of newborn faces, the BabyFM, for fetal face reconstruction from 3D US images. We test the feasibility of using newborn statistics to accurately reconstruct fetal faces by fitting the regularized morphable model to the noisy 3D US images. The results indicate that the reconstructions are quite accurate in the central-face and less reliable in the lateral regions (mean point-to-surface error of 2.35 mm vs 4.86 mm). The algorithm is able to reconstruct the whole facial morphology of babies from US scans while handle adverse conditions (e.g. missing parts, noisy data). The proposed algorithm has the potential to aid in-utero diagnosis for conditions that involve facial dysmorphology. [ABSTRACT FROM AUTHOR]

As an effective way of routine prenatal diagnosis, ultrasound (US) imaging has been widely used recently. Biometrics obtained from the fetal segmentation shed light on fetal health monitoring. However, the segmentation in US images has strict requirements for sonographers on accuracy, making this task quite time-consuming and tedious. In this paper, we use DeepLabv3+ as the backbone and propose an Integrated Semantic and Spatial Information of Multi-level Features (ISSMF) based network to achieve the automatic and accurate segmentation of four parts of the fetus in US images while most of the previous works only segment one or two parts. Our contributions are threefold. First, to incorporate semantic information of high-level features and spatial information of low-level features of US images, we introduce a multi-level feature fusion module to integrate the features at different scales. Second, we propose to leverage the content-aware reassembly of features (CARAFE) upsampler to deeply explore the semantic and spatial information of multi-level features. Third, in order to alleviate performance degradation caused by batch normalization (BN) when batch size is small, we use group normalization (GN) instead. Experiments on four parts of fetus in US images show that our method outperforms the U-Net, DeepLabv3+ and the U-Net++ and the biometric measurements based on our segmentation results are pretty close to those derived from sonographers with ten-year work experience. [ABSTRACT FROM AUTHOR]

The use of exome sequencing (ES) in the prenatal setting improves the diagnostic yield of genetic testing for fetuses with ultrasound anomalies. However, while the purpose of ES is to explain the fetal phenotype, secondary or incidental findings unrelated to the observed abnormalities might be detected. Recently, requests for ES in fetuses with no sonographic abnormalities have been increasing, raising serious ethical and medico-legal concerns. Variant interpretation is complex even in the postnatal setting and performing broad genomic data analyses in the prenatal setting presents additional dilemmas. This article discusses challenges and questions related to prenatal ES, including variant interpretation of incidental findings in cases of indicated prenatal ES, as well as in situations where ES is performed in asymptomatic fetuses. [ABSTRACT FROM AUTHOR]

Background: Large-for-gestational-age fetuses are at increased risk of perinatal morbidity and mortality. Magnetic resonance imaging seems to be more accurate than ultrasound in the prediction of macrosomia; however, there is no well-powered study comparing magnetic resonance imaging with ultrasound in routine pregnancies.Objective: This study aimed to prospectively compare estimates of fetal weight based on 2-dimensional ultrasound and magnetic resonance imaging with actual birthweights in routine pregnancies.Study Design: From May 2016 to February 2019, women received counseling at the 36-week clinic. Written informed consent was obtained for this Ethics Committee-approved study. In this prospective, single-center, blinded study, pregnant women with singleton pregnancies between 36 0/7 and 36 6/7 weeks' gestation underwent both standard evaluation of estimated fetal weight with ultrasound according to Hadlock et al and magnetic resonance imaging according to the formula developed by Baker et al, based on the measurement of the fetal body volume. Participants and clinicians were aware of the results of the ultrasound but blinded to the magnetic resonance imaging estimates. Birthweight percentile was considered as the gold standard for the ultrasound and magnetic resonance imaging-derived percentiles. The primary outcome was the area under the receiver operating characteristic curve for the prediction of large-for-gestation-age neonates with birthweights of ≥95th percentile. Secondary outcomes included the comparative prediction of large-for-gestation-age neonates with birthweights of ≥90th, 97th, and 99th percentiles and small-for-gestational-age neonates with birthweights of ≤10th, 5th, and 3rd percentiles for gestational age and maternal and perinatal complications.Results: Of 2914 women who were initially approached, results from 2378 were available for analysis. Total fetal body volume measurements were possible for all fetuses, and the time required to perform the planimetric measurements by magnetic resonance imaging was 3.0 minutes (range, 1.3-5.6). The area under the receiver operating characteristic curve for the prediction of a birthweight of ≥95th percentile was 0.985 using prenatal magnetic resonance imaging and 0.900 using ultrasound (difference=0.085, P<.001; standard error, 0.020). For a fixed false-positive rate of 5%, magnetic resonance imaging for the estimation of fetal weight detected 80.0% (71.1-87.2) of birthweight of ≥95th percentile, whereas ultrasound for the estimation of fetal weight detected 59.1% (49.0-68.5) of birthweight of ≥95th percentile. The positive predictive value was 42.6% (37.8-47.7) for the estimation of fetal weight using magnetic resonance imaging and 35.4% (30.1-41.1) for the estimation of fetal weight using ultrasound, and the negative predictive value was 99.0% (98.6-99.3) for the estimation of fetal weight using magnetic resonance imaging and 98.0% (97.6-98.4) for the estimation of fetal weight using ultrasound. For a fixed false-positive rate of 10%, magnetic resonance imaging for the estimation of fetal weight detected 92.4% (85.5-96.7) of birthweight of ≥95th percentile, whereas ultrasound for the estimation of fetal weight detected 76.2% (66.9-84.0) of birthweight of ≥95th percentile. The positive predictive value was 29.9% (27.2-32.8) for the estimation of fetal weight using magnetic resonance imaging and 26.2% (23.2-29.4) for the estimation of fetal weight using ultrasound, and the negative predictive value was 99.6 (99.2-99.8) for the estimation of fetal weight using magnetic resonance imaging and 98.8 (98.4-99.2) for the estimation of fetal weight using ultrasound. The area under the receiver operating characteristic curves for the prediction of large-for-gestational-age neonates with birthweights of ≥90th, 97th, and 99th percentiles and small-for-gestational-age neonates with birthweights of ≤10th, 5th, and 3rd percentiles was significantly larger in prenatal magnetic resonance imaging than in ultrasound (P<.05 for all).Conclusion: At 36 weeks' gestation, magnetic resonance imaging for the estimation of fetal weight performed significantly better than ultrasound for the estimation of fetal weight in the prediction of large-for-gestational-age neonates with birthweights of ≥95th percentile for gestational age and all other recognized cutoffs for large-for-gestational-age and small-for-gestational-age neonates (P<.05 for all). [ABSTRACT FROM AUTHOR]

Abstract: Gyration abnormalities often reflect severe neurological diseases. Their diagnosis is impeded by our limited knowledge about normal sulci anatomy throughout fetal brain development. Primary sulci appears in a specific chronology which is unchanged among all fetuses. We think it is interesting to remind of sulci anatomy and then to depict sulci MRI and ultrasonography appearance at 22, 27 and 32 weeks of gestation. We pay particular attention to the lateral sulcus, also called Sylvian fissure. [Copyright &y& Elsevier]

Abstract: Sonographic assessment of fetal nuchal translucency (NT) thickness is the cornerstone of screening for chromosomal abnormality at 11–13+6 weeks gestation. This marker was first recognized in pregnancies being karyotyped for advanced maternal age, but its underlying pathophysiology remains to be fully determined. Although increased NT is clearly associated with changes in both lymphatic and cardiac development, neither is an obvious causative agent. The association with cardiac defects has now being subjected to a significant amount of research, with a large body of evidence showing that this marker is also a screening tool for major cardiac defects — although it performs more modestly than for chromosomal abnormality. The field continues to change rapidly. Recent evidence that uses a combination of increased NT, tricuspid regurgitation and abnormal flow in the ‘a’ wave of the ductus venosus can provide an effective screening strategy to predict many major cardiac defects at this early stage of pregnancy. [Copyright &y& Elsevier]

Abstract: Nuchal translucency (NT) identified at the time of the 11–14week scan has been established as one of the best tools for screening for Down syndrome. It has also proven to be of value in screening for other conditions such as cardiac defects and extra-cardiac structural abnormalities. In this article, we present data from our fetal medicine unit that highlight the importance of using NT measurement as a stratifying tool when referring for early scans. We propose that, whenever possible, in selected cases with increased NT, provision should be made for additional early scans at 14–18weeks of gestation with a view to providing information on fetal structural integrity well ahead of the routine scheduled appointments. Early scans should incorporate detailed assessment of the fetal cardiac as well as extra-cardiac anatomy to diagnose or rule out major structural defects. This strategy will provide reassurance to a large number of prospective parents. [Copyright &y& Elsevier]

Objective: To describe any trends in the uptake of antenatal screening for Down's syndrome since the addition of the earlier first trimester combined test. Study Design: All antenatal screening tests for Down's syndrome were carried out and their results were recorded by the Clinical Biochemistry Department at the Hull Royal Infirmary (HRI) and reviewed against the antenatal booking data held at the Women and Children's Hospital at HRI. The uptake of antenatal Down's syndrome screening for 5 different age groups of women across a four-year-period from 2007 to 2010 was analysed. Results: There was a significant increase in uptake of antenatal screening for Down's syndrome from 43.9% to 56.5% after the introduction of the combined test in 2010. This increase was apparent in all age groups. There was no change in the proportion of women opting for an invasive test following a positive screening test. Conclusion: Addition of the earlier first trimester combined test has increased uptake of antenatal screening for Down's syndrome in women of all ages. This is most likely due to the advantages this test gives women such as earlier decision making, earlier further invasive diagnostic testing and earlier termination, if necessary. [ABSTRACT FROM AUTHOR]

Abstract: We studied spinal muscular atrophy (SMA) during human development to identify possible delays or alterations in fetal movements detectable by ultrasound. We evaluated 29 pregnancies at risk for severe SMA performing 2D-ultrasound around 11–14weeks, prior to prenatal molecular testing of the SMN1 gene. We charted the occurrence of generalized body movements, isolated movements of arms and legs, head movements, startle and hiccup. Fetuses were diagnosed as healthy (n =12), carriers (n =10) or affected (n =7) according to the SMN1 molecular testing results obtained. SMN2 copies were also tested in the seven affected fetuses, six of whom showed two SMN2 copies and one a unique SMN2 copy. The movements under study were observed in all recordings, regardless of group and the SMN2 copies. At the gestational age examined, we did not observe a qualitative early limitation of movements in fetuses with SMA, even in cases predicted to develop a severe neonatal form. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To compare 35 commonly used formulae for small and average sized fetuses on their accuracy in estimating the birth weight in fetuses of 1500g or less. Study design: For this retrospective study a database search was performed for all singleton pregnancies without structural or chromosomal defects and with a birth weight of 1500g or less where the last ultrasound examination was performed within seven days before delivery. Percentage error and absolute percentage error were calculated based on 35 different weight estimation formulae. Multiple regression analysis was used to determine the significant contributors to the absolute percentage error. Results: One hundred and ninety-three cases fulfilled the inclusion criteria. The median birth weight was 990g. The percentage error ranged between −15.2% (underestimation with the Merz I formula) and 37.4% (overestimation with the Jordaan formula) and the respective standard deviations between 10.5% (Mielke I) and 54.0% (Schillinger), respectively. The absolute percentage error was between 8.5% and 37.6%. The most accurate weight estimation was achieved with the formula from Mielke (percentage error 1.8% and absolute percentage error 8.5%). Multiple regression analysis showed that significant contributors to the percentage error of the Mielke formula were biparietal diameter (OR=−0.206, p =0.045), occipitofrontal diameter (OR=0.765, p <0.0001), abdominal circumference (OR=−2.953, p<0.0001), femur length (OR=−0.903, p <0.0001), head to abdomen ratio (OR=−1.080, p <0.0001) and fetal weight (OR=2.847, p <0.0001). Conclusion: When estimating fetal weight in fetuses weighing 1500g or less, one has to be aware of the great differences in accuracy among the formulae. [ABSTRACT FROM AUTHOR]

Abstract: The purpose of this study is to compare the accuracy of prenatal ultrasound (US) and prenatal magnetic resonance imaging (MRI) in the diagnosis and characterization of congenital abnormalities of the genito-urinary tract and to determine if the additional information obtained by MRI may influence the management of the fetus. We retrospectively evaluate 15 cases of congenital genito-urinary tract anomalies detected by prenatal US and with echographic inconclusive diagnosis. We compare the MRI findings with the US findings and the final diagnosis, obtained from neonatal outcomes, imaging studies and pathology records. Fetal US diagnosis was correct in 9 cases (60%) and MRI in 13 cases (86.7%). Prenatal MRI revealed additional information to US in 9 cases (60%), which modified the initial US diagnosis in 5 cases (33.3%) and changed the therapeutic approach in 5 fetuses (33.3%). Fetal MRI was better than US in cases of oligoamnios and in fetuses with genito-urinary pathology concerning the pelvic and perineum region. We believe that MRI should be considered as a complementary diagnostic method in cases of echographic suspicion of congenital pathology of the genito-urinary tract and inconclusive prenatal US. [Copyright &y& Elsevier]

Objective: To determine whether the prenatal ultrasound (US) score can effectively differentiate fetal physiological and pathological hydronephrosis. Study Design: 158 fetuses (198 kidneys) with hydronephrosis (PAPD>or=10mm) were diagnosed by prenatal US in the third trimester. We measured and recorded three US parameters: renal pelvic anterior posterior diameter (PAPD), renal parenchyma thickness and pelvicaliceal morphology. They were graded with a score from 0 to 3 on the basis of severity of hydronephrosis, and the total US score of each kidney was obtained. According to the postnatal US and clinical diagnosis and management, all the cases were divided into two groups: physiological and pathological hydronephrosis. Using receiver operating characteristic curves analysis, we researched whether the US score was more accurate than each parameter and which was the best cut-off value for differential diagnosis of physiological and pathological hydronephrosis. Results: Of all the 198 hydronephrosis, 139 (70.20%) were physiological and 59 (29.80%) were pathological confirmed postnatally. Area under the curve of US score was 0.982, which was significantly larger than that of each parameter (P<0.05). The higher the score, the higher the possibility of pathological hydronephrosis was. Score 6 was the best cut-off value: the sensitivity, specificity, positive predictive value, negative predictive value, consistency rate and Youden's index were 89.83%, 94.24%, 86.89%, 95.62%, 92.93% and 0.8407, respectively. Conclusion: Prenatal US score is easy to obtain by measuring some data of the kidney and can effectively differentiate fetal physiological and pathological hydronephrosis. It can also be used as a new quantitative method to evaluate the prognosis of fetal hydronephrosis so as to provide reference for prenatal intervention and more accurate information for the family of the fetus. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Prenatal diagnosis of cleft lip and palate has been available for over 25 years. 3D ultrasound has significantly improved prenatal screening and perinatal care. Surface rendering of the fetal face is frequently asked by parents during exam and it has been shown to substantially improve parental-fetal bonding. However, little is known about the parental impact of surface ultrasound of the abnormal fetal face. We thus decided to assess parental feelings after 3D surface rendering of the fetal face in cleft lip and palate. Patient(s) and method: Between January 2003 and December 2006, a questionnaire was systematically proposed after birth to the parents who had 3D examination during pregnancy for lip and cleft palate. Analysis of results was performed retrospectively. Results: Twenty-three couples answered to inclusion criteria, 12 have been contacted, 9 responded. 3D ultrasound was not perceived as disturbing in 78% of parents. On the contrary 3D pictures had a positive effect and better prepare parents to birth. All of them even more considered that it should be systematically performed. Discussion and conclusion: Prenatal diagnosis of cleft lip and palate is known to improve parental well-being during the perinatal period. Furthermore, in addition to improved diagnosis, 3D ultrasound also provides a better understanding and acceptance of the malformation than 2D examination. The parental impact of 3D ultrasound is positive supporting and strengthening a systematic use in isolated fetal lip and cleft palate. [Copyright &y& Elsevier]

Abstract: Children with hypoplastic left heart syndrome (HLHS) are at risk for neurodevelopmental dysfunction; prenatal factors may play a role in this predilection. Cerebral blood flow profiles are abnormal in fetuses with HLHS, raising the possibility that cerebral hemodynamics in utero may be related to neurodevelopmental abnormalities. Prenatal aortic valvuloplasty for fetal aortic stenosis with evolving HLHS is technically feasible and improves left heart hemodynamics. This study aimed to assess the effects of prenatal intervention on cerebral blood flow profiles and head circumference in fetuses with evolving HLHS. Seventy fetuses underwent prenatal aortic valvuloplasty for evolving HLHS (median 23 weeks gestation). Among 46 fetuses that had successful valvuloplasty and available data, middle cerebral artery (MCA) pulsatility (PI) and resistive (RI) indices were abnormal (Z-scores –1.7±1.1 and –2.2±1.4, p <0.001). Early post-valvuloplasty (n =33) and at late gestation follow-up (n =28), MCA PI and RI Z-scores remained low with no difference from pre- or early postintervention. Fetal head circumference was normal, as were umbilical artery PI and RI Z-scores. Cerebral blood flow characteristics are abnormal in mid-gestation fetuses with evolving HLHS, suggesting low cerebral vascular impedance. The mechanisms and significance of these abnormalities are unknown. Prenatal aortic valvuloplasty did not have a major impact on these indices. (E-mail: doff.mcelhinney@cardio.chboston.org) [Copyright &y& Elsevier]

Abstract: The purpose of this prospective longitudinal study was to evaluate the growth of the fetal cerebellar volume by means of 3-D ultrasound to evaluate whether there is a difference between the volumes of the left and right cerebellar hemispheres, and to evaluate the intra- and interobserver reliability of two different techniques of volume measurement. Three-dimensional ultrasound examinations were performed every two to three weeks on 27 fetuses between 20 and 40 weeks'' gestation. Measurements of the total cerebellar volume and of the left and right cerebellar hemispheres were done using the multiplanar technique. Multilevel analysis was used to determine the growth of cerebellar volume based on individual developmental trajectories and compare the volume of the right and left hemispheres of the cerebellum. The intra- and interobserver reliability was calculated for the multiplanar and VOCAL™ techniques in a subgroup of 10 fetuses. A nonlinear growth curve of cerebellar volume in normal pregnancy was generated. The cerebellar growth per two-week decreased from a gain of 51% of the first measurement at 20 weeks to a gain of 16% of the first measurement at 38 weeks. The left cerebellar hemisphere was significantly larger (12.3%, p < 0.01) than the right. The intraclass correlation coefficient for the measurements by the two techniques was 0.99. Intraobserver reliability: the intraclass correlation coefficient for the measurements using the multiplanar technique was 0.96 and 0.97 and for VOCAL™ it was 0.98 and 0.97 for the two observers, respectively. Interobserver reliability: the intraclass correlation coefficient for the measurements using the multiplanar technique was 0.97 and for VOCAL™ 0.98. Longitudinal growth curves based on individual developmental trajectories were generated for the cerebellar volume. The left fetal cerebellar hemisphere was found to be significantly larger than the right. Both multiplanar and VOCAL™ techniques had a good intra- and interobserver reliability and yielded very similar results. (E-mail: l.pistorius@umcutrecht.nl) [Copyright &y& Elsevier]

Abstract: We assessed the vascular indices of the anterior territory of the middle cerebral artery (MCA) in normal pregnancies using 3-D power Doppler (3DPD). A cross-sectional study was carried out on 90 normal pregnancies between 24 and 35 weeks. All examinations were performed by a single operator using a volumetric transducer. The anterior territory of the MCA was scanned and the volumes were captured using 3DPD. The sphere mode of the VOCAL program was used to calculate the following vascular indices: vascularization index (VI), flow index (FI) and vascularization and flow index (VFI). Models of polynomial regression and Pearson''s correlation coefficient were used to evaluate the correlation between gestational age (GA) and the vascular indices. The 3DPD vascular indices had a low correlation with gestational age (VI – r = 0.324, p = 0.002; FI – r = 0.375, p < 0.001; VFI – r = 0.374, p < 0.001). There was a low correlation between GA and the 3DPD vascular indices of the anterior territory of the MCA. (E-mail: lunardozza@uol.com.br) [Copyright &y& Elsevier]

Objective: A fetal megacystis is defined by a longitudinal bladder diameter more than 7mm. The purpose of this study is to describe the prenatal ultrasound findings of this early fetal pathology and to assess pronostic and aetiologycal criteria. Patients and methods: Between January 2003 and December 2008, 12 cases of early fetal megacystis were identified in our referral fetal medicine unit (Saint-Étienne hospital, France). Results: There were two cases of spontaneous resolution and one case wasn’t a fetal megacystis. Termination of pregnancy for medical indications was realised for other cases because of associated malformations and bad evolution (six cases) and three chromosomal abnormalities (two cases of trisomy 18 and one of trisomy 21). Discussion and conclusion: Sonographic follow-up and fetal karyotyping are important to evaluate prognosis. However, our data suggest that fetal megacystis is a severe condition when diagnosed in early pregnancy. [Copyright &y& Elsevier]

Abstract: Purpose: Intestinal abnormalities are sometimes seen during antenatal testing; however, the postnatal importance of these findings has not been well established. We evaluated whether abnormal intestinal appearance on fetal ultrasound (US) was ultimately related to neonatal outcome. Methods: Fetal US examinations from 2003 to 2006 were evaluated. Hyperechogenic bowel was defined as having the echogenicity comparable to bone, and dilated bowel was identified based on the sonographer''s assessment. Persistence or resolution of US findings on subsequent US examinations and eventual outcomes were assessed. Cases were categorized as hyperechogenic or dilated and then subgrouped based on whether the US finding resolved. Results: Sixty-eight fetuses had either hyperechogenic (n = 48) or dilated bowel (n = 20) on antenatal US. In 56 cases, complete data were available for analysis. Of 44 liveborn infants, 11 (25.0%) had an abdominal abnormality, and 33 (75.0%) were normal at birth. Compared to those with dilated bowel, fetuses with hyperechogenic bowel had a higher rate of prenatal demise (20.8% vs 10%) but a lower rate of abnormality at birth (10.3% vs 53.3%). Hyperechogenic bowel resolved on subsequent US more frequently than dilated bowel (65.5% vs 20.0%). In both groups, all fetuses with sonographic resolution were normal at birth. Of 9 fetuses that had persistently hyperechogenic bowel, 3 (33.3%) were born with an abnormality, and all were found to have meconium peritonitis or meconium ileus. In the 12 cases where dilated bowel did not resolve, 8 (66.7%) were eventually born with an abnormality, most commonly intestinal atresia. Conclusions: Hyperechogenic and dilated bowel are associated with a significant rate of fetal demise. Hyperechogenicity is more common than dilation and is more likely to be transient. Dilated bowel is more often associated with neonatal abnormality than hyperechogenic bowel. Persistence of fetal US findings predicts a higher likelihood of abnormality in the neonate. [Copyright &y& Elsevier]

• Pediatric cardiologist provides couples with information, guidance and support. • Standardized counseling leads to high parental satisfaction with the counseling process. • Standardized counseling is associated with high cardiologists ability to predict parental decision. [ABSTRACT FROM AUTHOR]

Background: Esophageal atresia is a major anomaly with a low prenatal detection rate. We propose a sonographic method termed dynamic esophageal patency assessment.Objective: This study aimed to assess the feasibility and performance of the dynamic esophageal patency assessment in a high-risk population.Study Design: A prospective study was conducted in a single tertiary fetal ultrasound unit for 12 months. The study group included pregnant women referred for a targeted scan because of one or more of the following: (1) polyhydramnios; (2) small or absent stomach; (3) vertebral, anal atresia, cardiac, tracheoesophageal fistula, renal, and limb abnormalities; (4) first-degree relative with esophageal atresia; and (5) genetic mutation associated with esophageal atresia. In addition to dynamic esophageal patency assessment, a comprehensive anomaly scan was carried out. The fetal esophagus was observed during swallowing. Cases that demonstrated uninterrupted fluid propagation through the esophagus were classified as normal. Cases that demonstrated interrupted fluid propagation, with the formation of a pouch, were classified as abnormal. Cases with unclear visualization of the esophagus or cases that failed to demonstrate either fluid propagation or a pouch were classified as undetermined. Dynamic esophageal patency assessment results were compared with postnatal findings, considered "gold standard." Test performance indices and intra- and interobserver agreements were calculated.Results: For 12 months, 130 patients were recruited, and 132 fetuses were scanned. The median gestational age (interquartile range) at the time of scan was 31.4 weeks (29.0-35.3). Of 132 fetuses enrolled, 123 (93.2%) were normal, 8 (6%) were abnormal, and 1 (0.8%) was undetermined. Excluded from test performance analysis were 3 cases that were terminated without postmortem autopsy (1 was abnormal and 2 were normal), and a fourth case was excluded as it was classified as undetermined. The detection rate of esophageal atresia was 100%, with no false-positive or false-negative case. Sensitivity, specificity, and positive and negative predictive values of the dynamic esophageal patency assessment were 100%. The Kappa coefficient was 1 for both inter- and intraobserver agreements (P<.0001). The median time (interquartile range) required to complete the dynamic esophageal patency assessment was 6.00 minutes (3.00-13.25).Conclusion: The dynamic esophageal patency assessment is a feasible and highly effective method of ascertaining an intact esophagus and detecting esophageal atresia in suspected cases. [ABSTRACT FROM AUTHOR]

Background: The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine recently recommended offering genetic counseling and diagnostic testing for enlarged nuchal translucency at ≥3.0 mm, regardless of previous negative screening with noninvasive prenatal testing.Objective: This study aimed to perform a population-based, individual record linkage study to determine the optimal definition of an enlarged nuchal translucency for the detection of atypical chromosome abnormalities.Study Design: This was a retrospective study of women resident in Victoria, Australia, undergoing combined first-trimester screening during the 24-month period from January 2015 to December 2016. Linkages between statewide results for combined first-trimester screening, prenatal diagnostic procedures, and postnatal cytogenetic results from products of conception and infants up to 12 months of age were used to ascertain the frequency and type of chromosome abnormality by gestation and nuchal translucency measurement. An atypical chromosome abnormality was defined as any major chromosome abnormality other than whole chromosome aneuploidy involving chromosomes 21, 18, 13, X, and Y.Results: Of the 81,244 singleton pregnancies undergoing combined first-trimester screening, 491 (0.60%) had a nuchal translucency of ≥3.5 mm, 534 (0.66%) had a nuchal translucency of 3.0 to 3.4 mm, and 80,219 (98.74%) had a nuchal translucency of < 3.0 mm. When grouped by nuchal translucency multiples of the median (MoM), 192 (0.24%) had a nuchal translucency of ≥3.0 MoM, 513 (0.63%) had a nuchal translucency of 1.9 to 2.9 MoM, and 80,539 (99.13%) had a nuchal translucency of <1.9 MoM. A total of 1779 pregnancies underwent prenatal or postnatal diagnostic testing, of which 89.60% were performed by whole-genome single-nucleotide polymorphism chromosomal microarray. The frequency of total major chromosome abnormalities was significantly higher in the group with a nuchal translucency of ≥3.5 mm (147 of 491, 29.94%) than the group with a nuchal translucency of 3.0 to 3.4 mm (21 of 534, 3.93%) or a nuchal translucency of <3.0 mm (71 of 80,219, 0.09%) (P<.001). There were 93 atypical chromosome abnormalities in the total screened cohort. The frequency of an atypical chromosome abnormality was 4.07% (95% confidence interval, 2.51-6.22), 0.37% (95% confidence interval, 0.05-1.35), and 0.09% (95% confidence interval, 0.07-0.11) in the groups with a nuchal translucency of ≥3.5 mm, 3.0 to 3.4 mm, and <3.0 mm, respectively. The frequency of atypical chromosome abnormalities was 4.69% (95% confidence interval, 2.17-8.71), 2.53% (95% confidence interval, 1.36-4.29), and 0.09% (95% confidence interval, 0.07-0.11) in the groups with a nuchal translucency of ≥3.0 MoM, 1.9 to 2.9 MoM, and <1.9 MoM, respectively. When defining thresholds for offering diagnosis with chromosomal microarray at 11 to 13 weeks, both a nuchal translucency threshold of 1.9 MoM and a fixed threshold of 3.0 mm captured 22 of 93 fetuses (23.7%) with an atypical chromosome abnormality. Of these, 50.0% had a coexisting fetal abnormality on ultrasound. However, the gestation-specific threshold of 1.9 MoM had a better specificity than 3.0 mm. The positive predictive value of an enlarged nuchal translucency for any atypical chromosome abnormality was 1 in 47 for nuchal translucency of >3.0 mm and 1 in 32 for nuchal translucency of >1.9 MoM. Our nuchal translucency threshold of 1.9 MoM captured 0.87% of fetuses, thus approximating the 99th centile.Conclusion: A gestational age-adjusted nuchal translucency threshold of 1.9 MoM or 99th centile is superior to the fixed cutoff of 3.0 mm for the identification of atypical chromosome abnormalities. The risk of an atypical chromosome abnormality in a fetus with an enlarged nuchal translucency is more than tripled in the presence of an additional ultrasound abnormality. [ABSTRACT FROM AUTHOR]

The exploration of the foetal digestive tract is not systematized and the ends (thoracic oesophagus and anorectal area) are often excluded from the examination excluded from screening. Only the foetal digestive pathology of liquid expression (digestive obstruction, digestive duplication) is easily detected. The most frequent digestive pathologies (oesophagus atresia, anorectal malformation) are still very often a neonatal discovery. With echography or MRI, the antenatal analysis of the digestive tract is optimized by the acquisition of coronal (thoracic oesophagus, small intestine, and colon) and sagittal median cuts (rectal reference mark, sacral concavity). The interpretation of the echosignal of the contents of the digestive tract (liquid or meconial) takes into account the transition periods responsible for the physiological modifications in charge of the modification of images (24–26 WA and 29–30 WA). [Copyright &y& Elsevier]

We described a simplified and high-performance test (E-Q-PCR) for rapid assessment of the DNA methylation status at LIT1, a major genetic locus of Beckwith-Wiedemann syndrome (BWS). The E-Q-PCR test can detect and quantify the methylation changes between BWS fetuses and unaffected individuals in aminocytes as well as in lymphocytes and can be completed in 1 working day, and thus is a useful method for prenatal molecular diagnosis of BWS. [ABSTRACT FROM AUTHOR]

Objectives: To establish in infants with gastroschisis whether outcome is different when comparing a prenatal diagnosis with a diagnosis only at birth with the intention to develop a prenatal surveillance protocol. Intestinal atresia established after birth and preterm versus term delivery were studied as risk factors. Study Design: All 24 fetuses and 9 infants diagnosed with gastroschisis and referred to our tertiary center between January 1991 and June 2003 were studied retrospectively. Results: The infants of the prenatal subset delivered at our tertiary center and 18 survived. There were two pregnancy terminations, three intrauterine deaths at 19, 33 and 36 weeks respectively and one neonatal death. All nine infants in the postnatal subset survived. Eight were out born and one was delivered at our tertiary center. Prenatal bowel dilatation did not correlate with outcome. Between the prenatal and postnatal subset no significant difference in outcome of live-born infants was established. For four infants with intestinal atresia a significant difference was demonstrated for induction of preterm labour (P<0.05), duration of parenteral nutrition (P<0.01), number of additional surgical procedures (P<0.001) and length of hospital stay (P<0.01). The fifteen infants born prior to 37 weeks of gestation spent a significantly longer period in hospital compared to those delivered at term. When the cases with bowel atresia were excluded this difference was no longer present. Five of the 33 cases were diagnosed with associated anomalies which mainly involved the urinary tract. Conclusion: Neonatal outcome of live born infants following a prenatal diagnosis of gastroschisis is not different from a diagnosis at birth. The presence of intestinal atresia is the most important prognostic factor for morbidity. The supplemental value of prenatal diagnosis to the outcome of infants with gastroschisis may be in the prevention of unnecessary intrauterine death and detection of intestinal complications. A proposed surveillance protocol for fetuses with gastroschisis focused on intrauterine signs of pending distress such as a dilated stomach, intra abdominal bowel dilatation with peristalsis, notches in the umbilical artery Doppler signal, development of polyhydramnios and an abnormal CTG registration may improve outcome. [ABSTRACT FROM AUTHOR]

Abstract: The objective of this study was to determine if very early ultrasonographic measurements obtained from human and baboon are comparable. For this purpose, the gestational, amniotic and yolk sacs, embryonic crown rump length (CRL) and heart rate were measured ultrasonographically between 35 and 47 days from the mean day of a three-day mating period in baboons (n = 18) and between 42 to 58 days from fertilization as calculated from the CRL measurements in human pregnancies (n = 82). Ultrasonographic measurements from both species were then plotted in the same graph using Carnegie stages of embryonic development as the independent variable to allow for visual comparisons. Mean gestational age at ultrasonographic studies was significantly different for humans and baboons (50.4 vs. 41 days, respectively; p > 0.01). Significant correlations (p > 0.01) were noted between ultrasonographic measurements and Carnegie stages of development in both humans and baboons. Only the gestational and the yolk sacs were significantly smaller in baboons than in humans (p > 0.05). The findings that embryonic CRL, extra-embryonic space and heart rate are very similar between the 17th and 23rd Carnegie developmental stages make the baboon a promising surrogate of human pregnancy for investigations using celocentesis. (E-mail: jsantolaya@partners.org) [Copyright &y& Elsevier]

Objective: Measurement of cell-free fetal (cff) DNA in maternal plasma may have clinical application in prenatal screening for fetal Down syndrome and preeclampsia. Little is known regarding the tissue of origin of these fetal-derived sequences. We tested the hypothesis that if the placenta is the major contributor of cff DNA, then an increased placental volume should be associated with higher maternal plasma cff DNA levels. Study design: We enrolled 143 pregnant women who underwent first-trimester placental volume measurement using 3-dimensional ultrasonography. Cff DNA in maternal plasma on the day of the scan was quantified by real-time polymerase chain reaction (PCR) amplification of a Y-chromosome sequence. The association between measured placental volume and maternal plasma cff DNA levels was analyzed along with relevant clinical variables. Results: The median (25th, 75th percentiles) maternal plasma cff DNA level was 16.9 genome equivalents (GE)/mL (10.8, 28.7). Raw values were adjusted for gestational age and maternal body mass index. The median (25th, 75th percentiles) placental volume was 53.2 mL (43.0, 64.7), and median placental quotient (ratio of placental volume to fetal crown-rump length) was 1 mm² (0.8, 1.1). Based on multivariate linear regression analyses, neither of the above placental measurements showed a significant association with maternal plasma cff DNA levels (P = .43 and .43, respectively). A modest association was found between plasma cff DNA levels and gravidity (P = .03). Conclusion: Our data did not show a significant association between either the placental volume or placental quotient, and maternal plasma cff DNA levels. We speculate that it is the extent of placental apoptosis that primarily affects the amount of cff DNA released into the maternal circulation. [ABSTRACT FROM AUTHOR]

Abstract: Fetal acrania is uniformly lethal and termination is suggested whenever the diagnosis is made. Traditionally, the diagnostic tool was 2-D ultrasound (US). In this series, we report our work of detecting acrania using 3-D US. We reviewed our medical records of prenatal diagnosis on fetal acrania in National Cheng Kung University Hospital from May 1997 to December 2002. All the cases were scanned by a 3-D US scanner. In total, 29 cases of fetal acrania were diagnosed. The range of gestational age at prenatal diagnosis by US was between 11 and 21 weeks and 44% were depicted in the first trimester. Among them, 93.1% were isolated findings, and one was associated with trisomy 18. Comparing with previous literature, 3-D US can detect fetal acrania as early as 2-D US, and it also can provide additional vivid illustration after various modes of reconstruction, which 2-D US cannot. In conclusion, 3-D US may contribute to early detection of fetal acrania and provide a novel visual depiction of this defect after reconstruction; thus, assists substantially in diagnosis as well as consultation. (E-mail: ahsin@mail.ncku.edu.tw) [Copyright &y& Elsevier]

Objectives: To describe the natural history of pyelectasis from its detection in the second trimester to delivery, its capability to predict renal pathology and whether prenatal development of pelvic dilatation is correlated to its postnatal evolution. Study Design: A retrospective analysis involving 375 fetuses with a complete urological follow-up. Prenatal ultrasound was correlated with the results of postnatal investigation and frequency of postnatal surgery was established. Results: Two-hundred and eighty cases underwent at least two examinations before birth. 73.1% were male fetuses. 57.4% had a bilateral pyelectasis. Prenatal evolution of pelvic dilatation was the following:18.6% of the cases normalized, in 34.6% of the cases the dilatation reduced but did not disappear, in 30.7% it remained unchanged, while it worsened in 16.4%. One case from the first group, three cases from the second, seven cases from the third and 11 cases from the fourth needed surgical treatment. 1.9, 7.2, 18.6, 23.9% of cases respectively worsened after birth in the four groups (trend: P=0.001). Conclusions: Prenatal diagnosis of pyelectasis improves the outcome of these children due to a surgical approach that avoids renal damage. There is a good correlation between prenatal evolution and postnatal outcome, although a postnatal follow-up is opportune in those cases that normalized before birth. [ABSTRACT FROM AUTHOR]

Dicephalus twinning is an extremely rare type of conjoined twins. Early prenatal diagnosis of this condition is important to provide an opportunity for pregnancy termination. We present such a case, which was diagnosed by ultrasound examination at 12 weeks of gestation. The ultrasonographic criteria are discussed together with implications for management. [ABSTRACT FROM AUTHOR]

Fetal ultrasound (FU) is used during almost all pregnancies and makes a large contribution to the identification of fetal malformation. It is particularly difficult to announce a malformation, particularly those affecting the brain, because there are often doubts concerning both the diagnosis and the prognosis.Aim. – The aim of this study was to analyze how imaging for prenatal screening is organized and how couples are managed and supported. We concentrated on the procedures used to inform couples: content, method of delivery and consequences.Method. –: Study amongst large multidisciplinary centers in Paris and the Paris region, by semi-directed interviews using a questionnaire.Results. –: We showed that it is difficult to standardize the way in which information is supplied before and after the examination, and that doctors tend to recommend abortion when the prognosis is uncertain.Discussion. –: These results provide information that will help decision-making concerning a standardized procedure allowing couples to benefit from all the capacities of prenatal screening, particularly when the diagnosis and prognosis are uncertain. There is a need for multidisciplinary teams to support and to accompany the decision concerning whether to have an abortion or to continue the pregnancy. [Copyright &y& Elsevier]

Fetal ultrasound screening has become routine practice in many western countries. During the last decade, such screening has led to frequent situations characterised by clinical uncertainty due to the disclosure of soft markers in the unborn child. Soft markers are minor anatomical variations indicating a somewhat increased likelihood that the fetus has a chromosomal aberration, most frequently trisomy 21 (Down syndrome). This paper presents the results of a comprehensive literature search of the National Library of Medicine with emphasis on the chronological development of scientific knowledge in relation to soft markers and the link between advancing imaging technology and clinical counselling dilemmas. An analysis of the literature makes evident that many ultrasound examiners have counselled individual pregnant women on the basis of insufficient data. Moral dilemmas have thus emerged as a direct result of advancing medical technology, and healthy fetal lives prove to have been lost due to invasive diagnostic testing aimed at resolving clinical uncertainty. Ultrasound examiners have warned against a policy of disclosing all findings of soft markers to expectant parents, but no exploration of experiential aspects linked to the disclosure of fetal soft markers has yet been published in the medical literature. The emotional reactions of mothers are important to consider given their potential impact on the biological development of the fetus.In conclusion, this paper stresses the need for paying close attention to the crucial distinction between technology development and technology implementation in relation to prenatal testing. Furthermore, it provides strong arguments for scrutinising the interface between prenatal testing and human experience. [Copyright &y& Elsevier]

Objective: The purpose of this study was to compare fetal middle cerebral artery peak systolic velocity with amniotic fluid delta optical density at 450 nm in the prediction of fetal anemia.Study Design: A prospective study that involved 28 singleton pregnancies that were at-risk for fetal anemia was carried out in a tertiary teaching hospital. Middle cerebral artery peak systolic velocity was measured immediately before the determination of deltaoptical density at 450 nm and fetal hemoglobin concentration. Sensitivities and predictive values for fetal anemia were examined.Results: Fetal hemoglobin concentrations correlated significantly with middle cerebral artery peak systolic velocity (correlation coefficient, -0.77; P <.0001) and deltaoptical density at 450 nm zones (correlation coefficient, -0.56; P =.0025). Middle cerebral artery peak systolic velocity was >1.5 multiples of the median in 15 of 28 cases (54%); for this cutoff value, the sensitivity and positive-predictive values for a hemoglobin deficit of >-3SD were 75% and 60% and for a hemoglobin deficit of >-5SD were 100% and 47%, respectively. The corresponding values for deltaoptical density at 450-nm zone III (6/28 cases, 21%) were 0% (hemoglobin deficit, <-3SD) and 86% and 100% (hemoglobin deficit, <-5SD).Conclusion: Middle cerebral artery peak systolic velocity and amniotic fluid optical density at 450 nm are both useful in the prediction of fetal anemia. However, Doppler examination has the advantage of being a noninvasive method that can help reduce the number of invasive procedures in pregnancies that are at-risk for fetal anemia. [ABSTRACT FROM AUTHOR]

The objectives of this study were to evaluate routine prenatal diagnosis of congenital heart diseases (CHD) by fetal ultrasound examination in a well-defined population during the period 1994–1999 and to compare these results with the results from 1979 to 1993. This study included 80 076 consecutive pregnancies of known ouome from 1994 to 1999. CHD were classified as isolated or associated when at least one other major extra-cardiac malformation was present. Only 137 out of 688 malformed fetuses with CHD without chromosomal anomalies were detected (19.9%). The sensitivity of detection varied from 61.9% for malformations such as isolated hypoplastic left heart and single ventricle, to around 7–19% for atrial and ventricular septal defects. Prenatal detection rate of CHD was 11.4% for isolated cases, and 40.2% for multiple malformed with CHD. The gestational age at discovery varied from 16 to 36 weeks. There is no upper limit for termination of pregnancies in our country; 12.3% of all pregnancies were terminated after prenatal diagnosis. However, 62% of the pregnancies with a CHD detected prenatally were terminated. The detection rate of CHD increased during time from 9.2% during the period 1979–1988 to 13.7% during the period 1990–1993 and to 19.1% during the period 1994–1999. Our study shows large variation in the prenatal detection rate of CHD. Prenatal diagnosis of CHD is significantly higher when associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Gestational age at discovery was 20–24 weeks for the majority of associated cardiac defects. The prenatal detection rate of CHD increased during time from 1979 to 1999. [Copyright &y& Elsevier]

Background: Postmortem confirmation of prenatally diagnosed congenital heart disease after termination of pregnancy and evaluation of potential cardiac defects after spontaneous fetal or neonatal death are essential. Conventional autopsy rates are decreasing, and 1.5Tesla magnetic resonance imaging has demonstrated limited diagnostic accuracy for postmortem cardiovascular assessment.Objective: This study aimed to evaluate the feasibility and image quality of cardiac 3Tesla postmortem magnetic resonance imaging and to assess its diagnostic accuracy in detecting fetal heart defects compared with conventional autopsy. Secondarily, the study aimed to explore whether clinical factors affect the quality of 3Tesla postmortem magnetic resonance imaging.Study Design: A total of 222 consecutive fetuses between 12 and 41 weeks' gestation, who underwent 3Tesla postmortem magnetic resonance imaging and conventional autopsy after spontaneous death or termination of pregnancy for fetal malformations, were included. First, 3Tesla postmortem magnetic resonance imaging of each fetus was rated as diagnostic or nondiagnostic for fetal cardiac assessment by 2 independent raters. The image quality of individual cardiac structures was then further evaluated by visual grading analysis. Finally, the presence or absence of a congenital heart defect was assessed by 2 radiologists and compared with autopsy results.Results: Overall, 87.8% of 3Tesla postmortem magnetic resonance imaging examinations were rated as diagnostic for the fetal heart. Diagnostic imaging rates of individual cardiac structures at 3Tesla postmortem magnetic resonance imaging ranged from 85.1% (atrioventricular valves) to 94.6% (pericardium), with an interrater agreement of 0.82 (0.78-0.86). Diagnostic imaging of the fetal aortic arch and the systemic veins at 3Tesla postmortem magnetic resonance imaging was possible from 12+5 weeks' gestation onward in 90.1% and 92.3% of cases, respectively. A total of 55 fetuses (24.8%) had at least 1 cardiac anomaly according to autopsy, 164 (73.9%) had a normal heart, and in 3 fetuses (1.4%), autopsy was nondiagnostic for the heart. Considering all examinations rated as diagnostic, 3Tesla postmortem magnetic resonance imaging provided high diagnostic accuracy for the detection of fetal congenital heart defects with a sensitivity of 87.8%, a specificity of 97.9%, and concordance with autopsy of 95.3%. 3Tesla postmortem magnetic resonance imaging was less accurate in young fetuses (<20 weeks compared with ≥20 weeks; P<.001), in fetuses with low birthweight (≤100 g compared with >100 g; P<.001), in cases after spontaneous fetal death (compared with other modes of death; P=.012), in cases with increasing latency between death and 3Tesla postmortem magnetic resonance imaging (P<.001), and in cases in which there was a high degree of maceration (maceration score of 3 compared with a score from 0 to 2; P=.004).Conclusion: Diagnostic 3Tesla postmortem magnetic resonance imaging assessment of the fetal heart is feasible in most fetuses from 12 weeks' gestation onward. In diagnostic images, sensitivity and, particularly, specificity in the detection of congenital heart disease are high compared with conventional autopsy. Owing to its high diagnostic accuracy, we suggest that 3Tesla postmortem magnetic resonance imaging may serve as a suitable imaging modality with which to direct a targeted conventional autopsy when pathology resources are limited or to provide a virtual autopsy when full autopsy is declined by the parents. [ABSTRACT FROM AUTHOR]

We report a case of giant urachal cyst in a neonate presenting characteristic features on fetal ultrasonography. A 28-year-old woman of 21 weeks gestation was referred to our hospital for evaluation of a cystic mass in the lower portion of the fetal abdomen. On fetal ultrasonography, at 23 weeks gestation, the two umbilical arteries in the base of the umbilical cord became separated from each other due to the fetal cyst. On fetal MRI, at 25 weeks gestation, the cyst was depicted as a unilocular serous cyst, independent of the surrounding organs such as the kidney, gallbladder and intestines. The cyst had no communication with the bladder or umbilical cord. A male infant was delivered at term. Although the infant was thriving and remained asymptomatic, an enhanced CT examination 13 days after birth showed the cyst was still present without any decrease in size. The infant underwent surgery to make a definite diagnosis and to prevent future complications. The cyst was excised without any complication and finally diagnosed as a urachal cyst based on morphological and pathological findings. [ABSTRACT FROM AUTHOR]

Background: The majority of simple renal cysts diagnosed postnatally are asymptomatic and rarely require treatment unless they become symptomatic or complex. We hypothesised that prenatally-detected simple renal cysts would have a similar harmless outcome.Aims: To establish the natural history and postnatal outcome of prenatally-diagnosed simple renal cysts.Study Design: Single-centre retrospective case-series review (12-year period).Subjects: All patients with prenatally-diagnosed simple renal cysts (defined as a solitary, non-septated, non-communicating cyst in an otherwise normal kidney).Outcome Measures: Prenatal and postnatal changes to cyst size, persistence, resolution or modification of diagnosis. Data is presented as the proportion of patients or median (range).Results: 30 cysts were detected (2 bilateral, 26 unilateral) in 28 fetuses (median gestational age of 23 [20-36] weeks). Median maximum diameter was 15 (4-35) mm at initial diagnosis and 17.5 (4-100) mm across all prenatal scans. On follow-up scans diagnosis was modified in 16 (53%) to: multicystic dysplastic kidney (MCDK), dilated duplex kidney, hydronephrosis, urinoma, renal agenesis and adrenal mass. 12 (40%) cysts resolved. 2 (7%) asymptomatic cysts persisted at one year postnatally. Cyst maximum diameter in the modified diagnosis group (21.5 [10-100] mm) was significantly larger than the simple cyst group (12 [4-20] mm) (P = 0.03).Conclusions: Our study revealed the challenges of prenatal ultrasound imaging, with modified diagnoses in over half the cases. Kidneys with solitary cysts could evolve into multicystic kidneys or involute completely, which suggests a true alteration in morphology rather than sonographic error. Persistent simple cysts in an otherwise normal kidney, however, resolved spontaneously or remained asymptomatic. Prenatally-detected simple cysts should be monitored with serial imaging. [ABSTRACT FROM AUTHOR]