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Objectives: To identify at prenatal ultrasound (US) the features of apparently isolated subependymal pseudocysts (SEPC) that may indicate underlying pathology and should lead to further investigations.Methods: This was a retrospective study of cases with SEPC detected on prenatal US and/or magnetic resonance imaging (MRI). Those with apparently isolated SEPC at US were classified into two groups as follows: Group 1 (n = 29): normal prenatal US and MRI (except for SEPC) and normal outcome; Group 2 (n = 12): normal prenatal cerebral US (except for SEPC) and abnormal prenatal cerebral MRI with or without abnormal outcome. A third group (n = 9) included cases with abnormal prenatal US and MRI. The latter cases with obvious cerebral abnormalities at US were excluded from the statistical analysis as they do not represent a diagnostic dilemma for clinicians. Groups 1 and 2 were analyzed, comparing them with respect to their SEPC characteristics (size, number, location in relation to the caudothalamic notch and the ventricular horns and morphology) and extracerebral abnormalities.Results: The mean ± SD SEPC great axis was longer in Group 2 (11.67 ± 5.82 mm) than it was in Group 1 (8.00 ± 5.64 mm) (P = 0.021), suggesting an optimal cut-off for size of SEPC of ≥ 9 mm (sensitivity = 75%, specificity = 62%) to maximize sensitivity for predicting pathological outcome. SEPC adjacent to the temporal horns and SEPC located posterior to the caudothalamic notch were observed more frequently in Group 2, indicating their association with poor outcome (P = 0.003 and P = 0.003, respectively). Atypical morphology and extracerebral abnormalities were observed more frequently in Group 2 (P = 0.013 and P = 0.044, respectively). There was no statistically significant difference between groups for either number or location of cysts along the inferior wall or adjacent to the lateral wall of the frontal horns (P = 0.591 and P = 0.156, respectively).Conclusion: When apparently isolated SEPC are observed at prenatal US, further investigations should be performed under the following circumstances: (1) SEPC great axis ≥ 9 mm; (2) SEPC adjacent to the occipital and temporal horns; (3) SEPC located posterior to the caudothalamic notch; (4) SEPC with atypical morphology. [ABSTRACT FROM AUTHOR]

Comments on the progress towards realistic expectations of patients, health professionals and policy-makers concerning prenatal testing in Great Britain. Problems of expectant mothers associated with the detection of fetal anomalies; Knowledge of health care providers of prenatal screening tests; Development of interactive decision-making aids.

Objective: To describe and assess the presence of a new indirect sign of partial agenesis of the corpus callosum (pACC): an abnormally shaped cavum septi pellucidi (CSP).Methods: We analyzed retrospectively images from all 71 cases of pACC seen at two referral centers between September 2006 and April 2014. Abnormally shaped CSP was diagnosed when its lateral dimension was greater than its anteroposterior dimension in the axial transthalamic plane, and the incidence of this sign was assessed. We also examined the following variables: gestational age at referral, indication for referral, which (if any) of the four corpus callosal segments were abnormal, presence of other, previously established, indirect signs of callosal agenesis (ACC) and presence of additional cerebral or extracerebral anomalies.Results: In 56 of the 71 (79%) cases, the CSP was measurable; it was abnormally shaped in 19 (34%) of these cases, 15 (79%) of which had no other indirect signs of pACC. Of 23 cases with isolated pACC and no other indirect signs, 12 (52%) had an abnormally shaped CSP.Conclusions: In a significant proportion of cases of pACC detected prenatally, the shape of the CSP is abnormal. This should be considered an additional indirect sign of pACC, and is frequently the only clue to the diagnosis. When observing this sign in a screening context, pACC should be considered, and an attempt to visualize the corpus callosum directly in the midsagittal plane is suggested. [ABSTRACT FROM AUTHOR]

Objective: To describe antenatal sonographic signs that help in the differentiation of truncus arteriosus Types II and III (TA-II/III) from pulmonary atresia with ventricular septal defect (PA-VSD).Methods: From a database of fetal echocardiographic examinations, we identified fetuses with sonographic features of a single great artery with VSD and relatively normal four-chamber view. Records were reviewed, comparing fetuses with TA-II/III and those with PA-VSD, with particular focus on: 1) characteristics of the overriding vessel, 2) appearance of the semilunar valves, 3) competence of the semilunar valves, 4) presence of major aortopulmonary collateral arteries (MAPCA), 5) main pulmonary artery being without antegrade flow, 6) site of arterial branching from the great artery and 7) other minor features, such as cardiac axis or associated anomalies.Results: Seventeen fetuses were identified, eight with TA-II/III and nine with PA-VSD. Among the eight fetuses with TA-II/III, seven had abnormal valves and six had valve regurgitation, compared with none of the nine PA-VSD fetuses. Five TA-II/III fetuses had early branching to supply the lungs, whereas most fetuses with PA-VSD had more distal branching. Notably, in six of the TA-II/III fetuses, the root of the single great artery originated predominantly from the right ventricle, while all but one of the PA-VSD fetuses had typical equal overriding of the VSD. The main pulmonary artery was without antegrade flow in two cases with PA-VSD. Finally, four cases with PA-VSD had MAPCA, in two of which this was identified prenatally.Conclusion: Identification of abnormal arterial valves or valve regurgitation, site of origin of branching, presence of overriding of the great artery, a main pulmonary artery without antegrade flow and MAPCA are helpful in differentiating between TA-II/III and PA-VSD. [ABSTRACT FROM AUTHOR]

Objective: To describe the anatomical structures that form the anterior (AC) and posterior (PC) complexes of the fetal brain and to categorize their anomalies in fetuses with cerebral abnormalities.Methods: We analyzed retrospectively volume datasets from 100 normal fetuses between 20 and 30 weeks' gestation. On the axial transventricular plane, our analysis of the AC included the interhemispheric fissure (IHF), the callosal sulcus (CS), the genu of the corpus callosum (CC), the cavum septi pellucidi (CSP) and the anterior horns (AH) of the lateral ventricles. The PC included the splenium of the CC, the medial wall of the lateral ventricles, the CS and the parieto-occipital fissure (POF). We then categorized AC/PC findings in 32 fetuses with agenesis of the septi pellucidi, schizencephaly, callosal dysgenesis, cortical malformation and hypoxic-ischemic brain injury.Results: The structures forming the AC and PC were visible in 100% and 92%, respectively, of normal cases. In the AC, the CSP was square-shaped in 73% of cases and it was triangular in 27%; the AH was comma-shaped in 92% of cases and triangular in the remainder. In the PC, the splenium of the CC interrupted and bridged the midline and was delimited posteriorly by the CS and the IHF. The POF was visible posteriorly. We categorized AC and PC abnormalities according to the main deviation from normality in their anatomical structures. The AC was abnormal in 30/32 cases and the PC was abnormal in 16/32 cases. In the two cases with normal AC, the PC was abnormal.Conclusion: Normal appearance of AC and PC seems to be a strong indicator of fetal central nervous system normality. Morphological abnormalities in both complexes are robust markers of midline defects, but not exclusively so. The majority of fetuses with cortical malformations showed a defect in the AC. [ABSTRACT FROM AUTHOR]

Objectives: To compare the performance of traditional G-banding karyotyping with that of copy number variation sequencing (CNV-Seq) for detection of chromosomal abnormalities associated with miscarriage.Methods: Products of conception (POC) were collected from spontaneous miscarriages. Chromosomal abnormalities were detected using high-resolution G-banding karyotyping and CNV sequencing. Quantitative fluorescent polymerase chain reaction analysis of maternal and POC DNA for short tandem repeat (STR) markers was used to both monitor maternal cell contamination and confirm the chromosomal status and sex of the miscarriage tissue.Results: A total of 64 samples of POC, comprising 16 with an abnormal and 48 with a normal karyotype, were selected and coded for analysis by CNV-Seq. CNV-Seq results were concordant for 14 (87.5%) of the 16 gross chromosomal abnormalities identified by karyotyping, including 11 autosomal trisomies and three sex chromosomal aneuploidies (45,X). Of the two discordant results, a 69,XXX polyploidy was missed by CNV-Seq, although supporting STR marker analysis confirmed the triploidy. In contrast, CNV-Seq identified a sample with 45,X karyotype as a 45,X/46,XY mosaic. In the remaining 48 samples of POC with a normal karyotype, CNV-Seq detected a 2.58-Mb 22q deletion associated with DiGeorge syndrome and nine different smaller CNVs of no apparent clinical significance.Conclusions: CNV-Seq used in parallel with STR profiling is a reliable and accurate alternative to karyotyping for identifying chromosome copy number abnormalities associated with spontaneous miscarriage. [ABSTRACT FROM AUTHOR]

Objective: To investigate the potential value of combined screening by maternal characteristics and medical history (maternal factors), estimated fetal weight (EFW), uterine artery pulsatility index (UtA-PI), mean arterial pressure (MAP) and serum levels of placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) at 30-34 weeks' gestation in the prediction of delivery of small-for-gestational-age (SGA) neonates, in the absence of pre-eclampsia (PE).Methods: This was a screening study in 9472 singleton pregnancies at 30-34 weeks' gestation, comprising 469 that delivered SGA neonates and 9003 cases unaffected by SGA, PE or gestational hypertension. Multivariable logistic regression analysis was used to determine if UtA-PI, MAP and serum PlGF or sFlt-1, individually or in combination, improved the prediction of SGA neonates provided from screening by maternal factors and EFW.Results: Compared to the normal group, mean log10 multiples of the median (MoM) values of UtA-PI, MAP and serum sFlt-1 were significantly higher and log10 MoM PlGF was lower in the SGA group. Multivariable logistic regression analysis demonstrated that in the prediction of SGA neonates with a birth weight < 5(th) percentile, delivering < 5 weeks and ≥ 5 weeks after assessment, there were significant independent contributions from maternal factors, EFW, UtA-PI, MAP, and serum PlGF and sFlt-1, but the best performance was provided by a combination of maternal factors, EFW, UtA-PI, MAP and serum PlGF, excluding sFlt-1. Combined screening predicted, at a 10% false-positive rate, 89%, 94%, 96% of SGA neonates delivering at 32-36 weeks' gestation with birth weight < 10(th) , < 5(th) and < 3(rd) percentiles, respectively; the respective detection rates of combined screening for SGA neonates delivering ≥ 37 weeks were 57%, 65% and 72%.Conclusion: Combined screening by maternal factors and biophysical and biochemical markers at 30-34 weeks' gestation could identify a high proportion of pregnancies that will deliver SGA neonates. [ABSTRACT FROM AUTHOR]

Objectives: To determine the frequency of clinically significant chromosomal abnormalities identified by chromosomal microarray in pregnancy losses at any gestational age and to compare microarray performance with that of traditional cytogenetic analysis when testing pregnancy losses.Methods: Among 535 fetal demise specimens of any gestational age, clinical microarray-based comparative genomic hybridization (aCGH) was performed successfully on 515, and a subset of 107 specimens underwent additional single nucleotide polymorphism (SNP) analysis.Results: Overall, clinically significant abnormalities were identified in 12.8% (64/499) of specimens referred with normal or unknown karyotypes. Detection rates were significantly higher with earlier gestational age. In the subset with normal karyotype, clinically significant abnormalities were identified in 6.9% (20/288). This detection rate did not vary significantly with gestational age, suggesting that, unlike aneuploidy, the contribution of submicroscopic chromosomal abnormalities to fetal demise does not vary with gestational age. In the 107 specimens that underwent aCGH and SNP analysis, seven cases (6.5%) had abnormalities of potential clinical significance detected by the SNP component, including female triploidy. aCGH failed to yield fetal results in 8.3%, which is an improvement over traditional cytogenetic analysis of fetal demise specimens.Conclusions: Both the provision of results in cases in which karyotype fails and the detection of abnormalities in the presence of a normal karyotype demonstrate the increased diagnostic utility of microarray in pregnancy loss. Thus, chromosomal microarray testing is a preferable, robust method of analyzing cases of pregnancy loss to better delineate possible genetic etiologies, regardless of gestational age. [ABSTRACT FROM AUTHOR]

Objective: To investigate the value of combined screening by maternal characteristics and medical history, fetal biometry and biophysical and biochemical markers at 19-24 weeks' gestation, for prediction of delivery of small-for-gestational-age (SGA) neonates, in the absence of pre-eclampsia (PE), and examine the potential value of such assessment in deciding whether the third-trimester scan should be at 32 and/or 36 weeks' gestation.Methods: This was a screening study in 7816 singleton pregnancies, including 389 (5.0%) that delivered SGA neonates with birth weight < 5(th) percentile (SGA < 5(th) ), in the absence of PE. Multivariable logistic regression analysis was used to determine if screening by a combination of maternal factors, fetal biometry, uterine artery pulsatility index (UtA-PI) and maternal serum concentrations of placental growth factor (PlGF) and α-fetoprotein (AFP) had significant contribution in predicting SGA neonates. A model was developed for selecting the gestational age for third-trimester assessment, at 32 and/or 36 weeks, based on the results of screening at 19-24 weeks.Results: Significant independent contributions to the prediction of SGA < 5(th) were provided by maternal factors, fetal biometry, UtA-PI and serum PlGF and AFP. The detection rate (DR) of such combined screening at 19-24 weeks was 100%, 78% and 42% for SGA < 5(th) delivering < 32, at 32-36 and ≥ 37 weeks' gestation, respectively, at a false-positive rate (FPR) of 10%. In a hypothetical model, it was estimated that if the desired objective of prenatal screening is to predict about 80% of the cases of SGA < 5(th) , it would be necessary to select 11% of the population at the 19-24-week assessment to be reassessed at 32 weeks and 44% to be reassessed at 36 weeks; 57% would not require a third-trimester scan.Conclusion: Prenatal prediction of a high proportion of SGA neonates necessitates the undertaking of screening in the third trimester of pregnancy, in addition to assessment in the second trimester, and the timing of such screening, at 32 and/or 36 weeks, should be contingent on the results of the assessment at 19-24 weeks. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To assess the value of fetal urine biochemistry before 23 weeks of gestation in cases of lower urinary tract obstruction ( LUTO) to refine prognosis and to select potential candidates for in-utero intervention. Methods This was a retrospective study including 72 cases of LUTO with fetal urine sampled before 23 weeks and assayed for total protein, β-2-microglobulin, sodium, chloride, calcium, phosphorus, glucose and gamma-glutamyl transpeptidase ( GGTP). Two groups were defined according to renal outcome: 1) bilateral renal dysplasia on histological examination or renal failure at birth; 2) normal postnatal renal function or histologically normal appearance of the kidneys. Correlations between fetal urinary biochemical markers and postnatal renal function were studied. Results LUTO was isolated in 56/72 (77.8%) cases and was associated with other malformations in 16/72 (22.2%) cases. High GGTP levels (236 IU/L vs 5 IU/L; P < 0.0001) were observed in fetal urine in the five cases of urodigestive fistula. A significant difference between outcome groups was observed for β-2-microglobulin ( P = 0.0017), sodium ( P = 0.0008), chloride ( P = 0.0028) and calcium ( P = 0.0092) but not for protein, glucose or phosphorus. Sensitivity and specificity in defining a poor renal prognosis were 80.6% and 89% for β-2-microglobulin, 61.3% and 100% for sodium and 64.5% and 100% for calcium, respectively. Conclusions Fetal urinalysis before 23 weeks of gestation allowed distinction between three groups: 1) fetuses with normal urine biochemistry for which fetal therapy should be discussed; 2) fetuses with abnormal urine biochemistry for which prognosis for renal outcome is poor and for which the benefit of fetal therapy is likely to be compromised; 3) fetuses with urodigestive fistula. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives The primary objective was to estimate the prevalence of aberrant right subclavian artery ( ARSA) in fetuses with Down syndrome. Secondary objectives were to assess the prevalence of ARSA in euploid fetuses, the feasibility of ultrasound evaluation of the right subclavian artery ( RSA) in the first and second trimesters of pregnancy, the performance of ARSA in screening for trisomy 21 and its association with other abnormalities. Methods Web-based databases ( PubMed, EMBASE and MEDLINE) were searched up to July 2014. The STROBE, PRISMA and QUIPS instruments were used to assess all included studies and for reporting of methodology, results and conclusions. Original studies that reported prenatal ultrasound evaluation of ARSA, assessment of its prevalence in Down-syndrome and euploid fetuses, feasibility of ultrasound evaluation of the RSA in the first and second trimesters of pregnancy and correlation of ARSA with other abnormalities were included, excluding duplications and case reports. Collected data were summarized to estimate prevalence and feasibility. A meta-analysis was performed pooling the study-specific positive and negative likelihood ratios (LR+ and LR-), detection rates and false-positive rates for trisomy 21. Results Prevalence of ARSA in Down-syndrome fetuses was 23.6% (95% CI, 19.4-27.9%), whereas in euploid fetuses it was 1.02% (95% CI, 0.86-1.10%). Ultrasound evaluation of the RSA course and origin in the first and second trimesters of pregnancy was feasible in 85% and 98% of cases (first and second trimester, respectively) and it was directly related to sonographic experience and fetal crown-rump length and inversely related to maternal body mass index. In more than 20% of fetuses with ARSA there was an association with other abnormalities but ARSA seemed to be an independent marker of trisomy 21. The meta-analysis showed that ARSA is a significant risk factor for Down syndrome (pooled LR+ = 26.93, 95% CI, 19.36-37.47, P for effect < 0.001, P for Q = 0.3, I2 = 17.3%), whereas normal RSA is a significant protective marker (pooled LR- = 0.71, 95% CI, 0.51-0.99, P for effect = 0.043, P for Q = 0.9, I2 = 0%). Conclusions ARSA appears to be a clinically useful prenatal ultrasound marker of Down syndrome. Additional testing when ARSA is diagnosed should involve evaluation of all risk factors by applying a mathematical model. There is insufficient evidence to recommend fetal karyotyping in cases with isolated ARSA. If the background risk is higher or additional markers are present, full fetal karyotyping is advisable, including analysis for 22q11 microdeletion. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives To describe a method of quantifying the amount of liver herniation in fetuses with isolated congenital diaphragmatic hernia ( CDH) using two-dimensional ultrasonography and to correlate this finding with neonatal outcome. Methods Ultrasound images obtained from 77 consecutive fetuses that presented with isolated CDH between January 2004 and July 2012 were reviewed. Liver herniation and thoracic area were measured in a cross-sectional plane of the fetal chest at the level of the four-chamber view of the heart (the same section as is used to measure the lung area-to-head circumference ratio) and the ultrasound-derived liver-to-thoracic area ratio ( US-LiTR) was calculated by dividing the liver herniation area by the thoracic area. Receiver-operating characteristics ( ROC) curve analysis was used to evaluate the performance of US-LiTR in predicting neonatal outcome (survival to 6 months after delivery and need for extracorporeal membrane oxygenation ( ECMO)). In addition, the US-LiTR was compared with the magnetic resonance imaging ( MRI)-derived volume ratio ( MRI-LiTR) and percentage of liver herniation ( MRI-% LH). Results The overall neonatal mortality in the 77 cases with isolated CDH was 20.8% (16/77). ECMO was needed in 35.5% (27/76) of the newborns, with a survival rate of 52%. The US-LiTR was associated statistically with mortality ( P < 0.01) and with the need for ECMO ( P < 0.01). Good correlations were observed between US-LiTR and MRI-LiTR ( r = 0.87; P < 0.001) and between US-LiTR and MRI-% LH ( r = 0.90; P < 0.001). Based on ROC curve analysis, all three parameters had similar accuracy in predicting mortality ( US-LiTR: area under the ROC curve ( AUC), 0.78 (95% CI, 0.65-0.92), P < 0.01; MRI-LiTR: AUC, 0.77 (95% CI, 0.63-0.90), P < 0.01; MRI-%LH: AUC, 0.79 (95% CI, 0.65-0.92), P < 0.01, respectively) as well as the need for ECMO ( US-LiTR: AUC, 0.72 (95% CI, 0.60-0.84), P < 0.01; MRI-LiTR: AUC, 0.73 (95% CI, 0.60-0.88), P < 0.01; MRI-% LH: AUC, 0.77 (95% CI, 0.64-0.89), P < 0.01, respectively). Conclusions Two-dimensional ultrasound measurement of the amount of liver herniation in fetuses with isolated CDH is feasible and demonstrates a predictive accuracy for neonatal outcome similar to that of MRI. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To evaluate temporal trends in the prenatal diagnosis of transposition of the great arteries with intact ventricular septum ( TGA/ IVS) and its impact on neonatal morbidity and mortality. Methods We included in this study cohort newborns with TGA/ IVS who were referred for surgical management to our center over a 20-year period (1992-2011). The study period was divided into five 4-year periods and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal preoperative status and perioperative survival. Results Of the 340 patients with TGA/ IVS, 81 (23.8%) had a prenatal diagnosis. The rate of prenatal diagnosis increased over the study period, from 6% in 1992-1995 to 41% in 2008-2011 ( P < 0.001). Compared to patients with a postnatal diagnosis, balloon atrial septostomy ( BAS) was performed earlier in patients with a prenatal diagnosis (0 days after delivery vs 1 day after delivery, respectively; P < 0.001) and fewer prenatally diagnosed neonates required mechanical ventilation (55.6% vs 68.0%; P = 0.03). Between patients with a prenatal or postnatal diagnosis of TGA/ IVS, there were no statistically significant differences in the incidence of preoperative acidosis (16.0% vs 25.5%; P = 0.1), need for preoperative extracorporeal membrane oxygenation (2.5% vs 2.7%; P = 1.0) or mortality (one preoperative and no postoperative deaths among prenatally diagnosed patients compared with four preoperative and six postoperative deaths among postnatally diagnosed patients). Conclusions The prenatal detection rate of TGA/ IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically significantly different between prenatally and postnatally diagnosed patients, however, there were significant preoperative differences with regard to earlier BAS and fewer neonates that required mechanical ventilation. Ongoing work is required to ascertain whether prenatal diagnosis confers long-term benefits. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To evaluate the impact of the presence of a congenital heart anomaly ( CHA) and its potential contribution to morbidity and mortality in infants with congenital diaphragmatic hernia ( CDH). Methods In this retrospective cohort study, prenatal and postnatal data of all newborns diagnosed with CDH between January 2004 and December 2012 in a single center were reviewed. Cases were classified into two groups: those with 'isolated' CDH and those with both CDH and CHA. Patients with CHA were further subclassified into those with a major or minor CHA based on the Risk Adjustment for Congenital Heart Surgery-1 ( RACHS-1), and the Society of Thoracic Surgeons-European Association for Cardiothoracic Surgery ( STS-EACTS) scoring systems. Patients with associated non-cardiac anomalies, including 'syndromic cases', were excluded from the analysis. Primary and secondary outcomes were survival up to 1 year of age and a need for extracorporeal membrane oxygenation ( ECMO), respectively. Results Of the 180 infants with CDH, 41 were excluded because of the presence of non-cardiac associated anomalies, 118 had isolated CDH and 21 had CDH with CHA (16 with minor and five with major CHA). Receiver-operating characteristics curve analysis demonstrated that the best cut-off for survival was when the score for CHA was ≤ 2 for both RACHS-1 (area under the curve ( AUC), 0.74 ( P = 0.04); sensitivity, 80.0%; specificity, 87.5%) and STS-EACTS ( AUC, 0.83 ( P = 0.03); sensitivity, 100%; specificity, 87.5%). Survival rate at 1 year was significantly lower in those with CHD and a major CHA (40.0%; P = 0.04) than in those with isolated CDH (77.1%) and those with CDH and a minor CHA (81.3%). We found no significant differences among the groups with regard to the need for ECMO. Conclusions In general, a milder form of CHA does not appear to have a negative impact on the survival of infants with CDH. However, mortality appears to be significantly higher in infants with CDH and a major form of CHA. The scoring systems appear to be useful as predictors for classifying the effects of CHA in this population of patients. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To evaluate lung growth in healthy fetuses and those with congenital diaphragmatic hernia ( CDH) using two-dimensional ( 2D) ultrasound. Methods Fetal right lung measurements obtained by 2D ultrasound between 19 and 37 weeks' gestation were evaluated longitudinally in 66 healthy fetuses and 52 fetuses with isolated left-sided CDH. Right lung areas were determined by the 'tracing' and 'longest-diameters' methods and, subsequently, lung area-to-head circumference ratios ( LHRs) were calculated. Functions fitted to these size parameters with respect to gestational age were evaluated for three sets of group-wise comparisons: (1) healthy vs CDH fetuses; (2) different degrees of severity of CDH; and (3) CDH fetuses that survived vs those that died by 6 months postpartum. Results There was a significantly slower increase in right lung areas and LHRs with advancing gestational age in CDH fetuses than in healthy individuals ( P < 0.05). Compared to those with milder forms of CDH, lung areas and LHRs of fetuses with more severe forms displayed a smaller increase ( P < 0.05) and LHRs of fetuses with severe CDH did not increase during pregnancy ( P > 0.05). Individuals who died postpartum did not show any increase in LHR ( P > 0.05) throughout gestation. Conclusions The right lung area and LHR, calculated using either the longest-diameters or tracing method, display reduced growth rates during gestation in cases of isolated left-sided CDH as compared with healthy fetuses. The growth curve characteristics of fetal lung areas and LHRs may be useful for predicting neonatal mortality. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing ( NIPT) in detecting trisomies 21, 18 and 13 in over 140 000 clinical samples and to compare its performance in low-risk and high-risk pregnancies. Methods Between 1 January 2012 and 31 August 2013, 147 314 NIPT requests to screen for fetal trisomies 21, 18 and 13 using low-coverage whole-genome sequencing of plasma cell-free DNA were received. The results were validated by karyotyping or follow-up of clinical outcomes. Results NIPT was performed and results obtained in 146 958 samples, for which outcome data were available in 112 669 (76.7%). Repeat blood sampling was required in 3213 cases and 145 had test failure. Aneuploidy was confirmed in 720/781 cases positive for trisomy 21, 167/218 cases positive for trisomy 18 and 22/67 cases positive for trisomy 13 on NIPT. Nine false negatives were identified, including six cases of trisomy 21 and three of trisomy 18. The overall sensitivity of NIPT was 99.17%, 98.24% and 100% for trisomies 21, 18 and 13, respectively, and specificity was 99.95%, 99.95% and 99.96% for trisomies 21, 18 and 13, respectively. There was no significant difference in test performance between the 72 382 high-risk and 40 287 low-risk subjects (sensitivity, 99.21% vs 98.97% ( P = 0.82); specificity, 99.95% vs 99.95% ( P = 0.98)). The major factors contributing to false-positive and false-negative NIPT results were maternal copy number variant and fetal/placental mosaicism, but fetal fraction had no effect. Conclusions Using a stringent protocol, the good performance of NIPT shown by early validation studies can be maintained in large clinical samples. This technique can provide equally high sensitivity and specificity in screening for trisomy 21 in a low-risk, as compared to high-risk, population. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To evaluate the prenatal detection of transposition of the great arteries ( TGA), after the introduction of a Dutch screening program in 2007, as well as the effect of prenatal detection on pre- and postsurgical mortality and morbidity. Methods In a geographical cohort study, all infants with TGA who were born between 1 January 2002 and 1 January 2012 were included. The cases were divided into two groups: those with and those without a prenatal diagnosis. Pre- and postsurgical mortality was assessed, with a follow-up of 1 year. Presurgical morbidity was assessed in terms of cardiovascular compromise, metabolic acidosis, renal and/or hepatic dysfunction and closure of the duct before initiation of therapy. Results Of all cases ( n = 144), 26.4% were diagnosed prenatally, with detection rates of 15.7% and 41.0% in the first and last 5 years of the study period, respectively. First-year mortality was significantly lower in cases with a prenatal diagnosis of TGA than in those without (0.0% vs 11.4%, respectively). Presurgical mortality (4.9%) only occurred in undetected simple TGA cases. Closure of the duct before treatment, renal dysfunction and hypoxia occurred significantly more often in the group without a prenatal diagnosis. Conclusions The prenatal detection rate of TGA has increased significantly since the introduction of the screening program in 2007. Prenatal diagnosis is an important factor that contributes to survival of the infant in the first postnatal year. Furthermore, some morbidity indicators were significantly higher in the group without a prenatal diagnosis. These results justify efforts to improve prenatal screening programs. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To review the fetal echocardiograms of patients with total anomalous pulmonary venous connection ( TAPVC) in order to determine whether the distance between the left atrium and the descending aorta would be useful in the prenatal diagnosis of fetal TAPVC. Methods We reviewed the fetal echocardiograms of eight cases of TAPVC (five supracardiac type and three infracardiac type) with no other cardiac malformations. We evaluated the ratio of the left atrium-descending aorta distance to the diameter of the descending aorta ('post- LA space index') in 101 normal and eight TAPVC fetuses, and compared the values between groups. In addition, we examined the tricuspid valve/mitral valve diameter ratio ( TVD/ MVD) and the right ventricular end-diastolic diameter/left ventricular end-diastolic diameter ratio ( RVDd/ LVDd). Results The echocardiograms for fetuses with TAPVC and normal fetuses were performed at mean gestational ages of 27.5 weeks and 29.6 weeks, respectively. There were no significant differences in the TVD/ MVD and RVDd/ LVDd ratios between the groups. However, the post- LA space index was significantly higher in the TAPVC cases (mean, 1.51) than it was in the normal fetuses (mean, 0.71 ± 0.23) ( P < 0.0001). On an analysis of the receiver-operating characteristics curve, a post- LA space index cut-off of 1.27 was found to be optimal for distinguishing between TAPVC and normal hearts, with a sensitivity of 100% and specificity of 99%. Conclusions The novel post- LA space index could potentially be used for the prenatal diagnosis of TAPVC. A diagnosis of TAPVC is very likely in cases with a post- LA space index of > 1.27. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

An abstract of the research paper "Early prenatal diagnosis of fetal axillary lymphangioma with ipsilateral pes equinovarus" by Y. Bulbul Baytur and colleagues, presented at the 24th World Congress on Ultrasound in Obstetrics and Gynecology in Barcelona, Spain, is presented.

An abstract of the research paper "Crutial late intrauterine intervention in congenital adenomatoid lung malformation type I: Case report" by M. Litwinska and colleagues, presented at the 24th World Congress on Ultrasound in Obstetrics and Gynecology in Barcelona, Spain, is presented.

An abstract of the research paper "Azygos vein/descending aorta ratio in normal fetuses and fetuses with interrupted inferior vena cava" by H. Xie and L. Wu, presented at the 24th World Congress on Ultrasound in Obstetrics and Gynecology in Barcelona, Spain, is presented.

An abstract of the poster paper "Successful conservative management of cornucal pregnancy with ultrasound-guided transabdominal methotrexate injection" by S. Choi and colleagues, presented at the 24th World Congress on Ultrasound in Obstetrics and Gynecology in Barcelona, Spain, is presented.

An abstract of the research paper "Absent ductus venosus: prognosis in the era of first trimester screening for chromosomal abnormalities," by Q. Ferrer and others, presented at the 24th World Congress on Ultrasound in Obstetrics and Gynecology in Barcelona, Spain, is presented.

An abstract of the research paper "3-M Syndrome: the role of 2D/3D ultrasound for prenatal diagnosis" by A. Chincoli, M. Abruzzese, A. de Gennaro and others, presented at the 24th World Congress on Ultrasound in Obstetrics and Gynecology held in Barcelona, Spain in September 2014, is presented.

An abstract of the research paper "Prenatal diagnosis and treatment of alpha-thalassemia major" by M. Debska, P. Kretowicz, P. Turowski and others, presented at the 24th World Congress on Ultrasound in Obstetrics and Gynecology held in Barcelona, Spain from September 14-17, 2014, is presented.

ABSTRACT Objectives To analyze the current technical approach of percutaneous minimal-access fetoscopic closure of spina bifida aperta ( SBA) and provide an overview of its development in ovine and human fetuses. Methods Minimal-access percutaneous fetoscopic closure of SBA was performed at the German Center for Fetal Surgery & Minimal-access Therapy ( DZFT) in 51 human fetuses at 21.0-29.1 weeks of gestation (mean age, 23.7 weeks). Various parameters of surgical relevance for the success and safety of the procedure and the early perioperative outcome were analyzed retrospectively. In addition, information from the early clinical cases was examined to determine how this shaped development of the approach. Results Percutaneous minimal-access fetoscopic closure of SBA was performed with a high rate of technical success, regardless of placental or fetal position. All fetuses survived surgery, but there was one very early preterm delivery 1 week after the procedure and this neonate died immediately, from early postoperative chorioamnionitis. Of the 50 surviving fetuses, 44 (88%) were delivered at or beyond 30 weeks and 25 (50%) at or beyond 34 weeks of gestation. There was one neonatal death from an uinsuspected case of trisomy 13 and two infant deaths from Chiari-II malformation. Conclusions Following an adequate learning curve, minimal-access fetoscopic surgery for fetal spina bifida can be performed with a high rate of technical success, regardless of placental position. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To define imaging patterns of unilateral cerebellar hypoplasia ( UCH), discuss possible pathophysiological mechanisms and underline the etiology and prognosis associated with these lesions. Methods In this retrospective study we reviewed the charts of 26 fetuses diagnosed between 2003 and 2011 with UCH, defined by asymmetrical cerebellar hemispheres with or without decreased transverse cerebellar diameter. The review included analysis of the anatomy of the cerebellar hemispheres, including foliation, borders and parenchymal echogenicity, and of the severity of the hypoplasia. Data from clinical and biological work-up and follow-up were obtained. Results Our series could be divided into two groups according to whether imaging features changed progressively or remained constant during follow-up. In Group 1 ( n = 8), the progression of imaging features, echogenic cerebellar changes and/or hyposignal in T2*-weighted MR images were highly suggestive of ischemic/hemorrhagic insult. In Group 2 ( n = 18), imaging features remained constant during follow-up; UCH was associated with abnormal foliation in three proven cases of clastic lesions, a cystic lesion was noted in three cases of PHACE (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac abnormalities/aortic coarctation, eye abnormalities) syndrome and, in the remaining cases, UCH remained unchanged, with no imaging pattern typical of hemorrhage. In 24 cases the infant was liveborn and follow-up was continued in 23, for a mean period of 3 years. Among these, neurological complications were identified in seven (in one of seven (at a mean of 46 months) in Group 1 and in six of 16 (at a mean of 35 months) in Group 2). The surface loss of cerebellar hemisphere was > 50% in 19/24 fetuses and the vermis was clearly normal in appearance in 19/24. Predisposing factors for fetal vascular insult were identified in eight cases: these included maternal alcohol addiction, diabetes mellitus, congenital cytomegalovirus infection and pathological placenta with thrombotic vasculopathy and infarctions. Conclusion UCH is defined as a focal lesion of the cerebellum that may be secondary to hemorrhage and/or ischemic insult, suggesting a clastic origin, particularly when imaging follow-up reveals changes over time. UCH may also be a clue for the prenatal diagnosis of PHACE syndrome. The amount of surface loss of cerebellar hemisphere does not correlate with poor prognosis. UCH with normal vermis is often associated with normal outcome. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To develop a semi-automated method to assess puborectalis muscle echogenicity on three-dimensional/four-dimensional ( 3D/ 4D) volume transperineal ultrasound images using 4D View and Matlab® software and evaluate its intra- and interobserver reliability. Method The data of 23 women in their first trimester were included. 3D/ 4D volume datasets were obtained at rest. Two inexperienced observers were trained by an experienced observer to construct tomographic ultrasound images ( TUI) from the original data and to delineate all structures. Puborectalis muscle area ( PMA) and the mean echogenicity of the puborectalis muscle ( MEP) were calculated offline. Intra- and interobserver reliability were determined by intraclass correlation coefficients ( ICC) and their 95% CIs. Results The development of a semi-automated method to calculate puborectalis area and echogenicity is described in detail. PMA and MEP measurements in pregnant women demonstrated almost perfect intraobserver reliability for both inexperienced observers, with ICC values ranging from 0.88 to 0.99. The interobserver reliability showed ICCs of 0.63 for PMA and almost perfect ICC values, of 0.96-0.98, for echogenicity. The majority of intraobserver mismatch between two delineations of PMA occurred near the borders. Conclusions Matlab software can be used to provide reliable measurements of the area and echogenicity of the puborectalis muscle. As the latter can be used to assess structural changes in the puborectalis muscle, it appears a promising new tool for studying pelvic floor structural anatomy. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To assess the incidence of complications among a relatively large cohort of fetuses with bronchopulmonary sequestration (BPS) and the success of two different intrauterine treatment modalities. Methods All cases with a prenatal diagnosis of BPS detected in a 10-year period (2002-2011) in two tertiary referral centers were reviewed retrospectively for intrauterine course and outcome. Up to May 2010 severe pleural effusions were treated with pleuroamniotic shunting. Thereafter, they were treated with ultrasound-guided laser coagulation of the feeding artery. Results A total of 41 fetuses with BPS were included in the study. In 29 (70.7%) there was no pleural effusion or hydrops and they were treated conservatively. In 19/29 (65.5%) there was partial or complete regression of the lesion during the course of pregnancy. All were born alive (median age at delivery, 38.3 (interquartile range (IQR), 34.0-39.6) weeks) and 16 (55.2%) required sequestrectomy. Intrauterine intervention was performed in all 12 (29.3%) fetuses with pleural effusion. Seven fetuses were treated with pleuroamniotic shunting. One fetus with severe hydrops died in utero. There was no complete regression in any case of BPS in this group. Six infants were born alive (median age, 37.2 (IQR, 30.3-37.4) weeks), of which five (83.3%) required sequestrectomy. Five fetuses were treated with laser ablation of the feeding vessel. In all cases of BPS there was regression after laser ablation. All infants were delivered at term (median age, 39.1 (IQR, 38.0-40.0) weeks). One (20.0%) neonate required sequestrectomy after birth. Following intrauterine shunt placement complete regression of the lesion was significantly less frequent (0/7 (0%) with shunt placement vs 4/5 (80%) with intrafetal laser treatment) and gestational age at birth was significantly lower, compared to treatment with intrafetal laser. Complete regression of the lesion was also significantly more frequent in the laser group compared to cases without intervention. Conclusion In the absence of pleural effusion, the likelihood of spontaneous regression of BPS is high and the prognosis is therefore favorable. In cases with massive pleural effusion, treatment by laser ablation of the feeding vessel seems to be more effective than is pleuroamniotic shunting, with fewer complications. It might also reduce the need for postnatal surgery. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To investigate the relationship between uterine artery Doppler ultrasound indices and birth weight in women with early-, intermediate- and late-onset pre-eclampsia as compared with women with uneventful pregnancy outcome. Methods In a retrospective, observational cohort study, uterine artery Doppler assessment was carried out at 18 + 0 to 23 + 6 weeks' gestation in 26 893 women attending for routine antenatal care in a tertiary care center. The mean resistance index ( RI) and its relationship to the outcome of pregnancy and birth-weight centiles were evaluated. Results Uterine artery RI showed a significant, negative correlation with birth weight ( r = −0.20, P < 0.0001). Patients with early-onset pre-eclampsia had an increased prevalence of high uterine artery mean RI, above the 90th centile, corresponding to an increased proportion of small-for-gestational age ( SGA) neonates with a birth weight below the 10th centile. In late-onset pre-eclampsia, however, there was an unexpectedly higher proportion of large-for-gestational-age ( LGA) neonates with a birth weight above the 90th centile without a concurrent increase in the prevalence of low uterine artery mean RI below the 10th centile. Conclusions The finding of a bimodal skewed distribution of birth weight, with neonates exhibiting a higher prevalence of both LGA and SGA with late-onset pre-eclampsia, indicates that there are two types of late-onset pre-eclampsia. These findings explain the poor performance of mid-trimester uterine artery Doppler in predicting pre-eclampsia at term and provide insights into the placental origins of the early and late forms of pre-eclampsia. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives Through comprehensive ophthalmic examination of adult offspring we sought to determine the impact of multiple prenatal ultrasound scans on ocular development. Methods 2743 pregnant women recruited to the Western Australian Pregnancy (Raine) Cohort study during 1989-1991 were randomized to receive at King Edward Memorial Hospital, Western Australia either multiple prenatal ultrasound scans and Doppler flow studies (intensive group) or a single ultrasound scan at 18 weeks' gestation. Neonatal birth weight of the offspring and other physical measurements were collected prospectively. At age 20 years, participants underwent a comprehensive ophthalmic examination including measurement of ocular biometry and visual acuity. Results Complete data were available for 1134 adult offspring participants. The mothers of 563 of these had been randomized to receive multiple prenatal ultrasound scans. The mean age of participants at follow-up was 20.0 years. There was no statistically significant difference between the two groups with regard to ocular biometric or visual outcomes, except for slightly higher intraocular pressure identified in individuals exposed to multiple ultrasound scans ( P = 0.034). Although infants in the intensive-ultrasound arm were more likely to have birth weights in the lower quartiles, this was not reflected in adult eye development. Axial length, lens thickness, corneal curvature and thickness and optic cup to disc ratio (a risk factor for glaucomatous optic neuropathy) were not significantly influenced by the more frequent ultrasound protocol. Conclusions Prior to this study, there was a paucity of safety data for ultrasound with regard to eye development. We found that frequent in-utero exposure to ultrasound, including B-mode imaging and the use of spectral Doppler mode from 18 weeks' gestation, had no significant impact on visual outcomes or ocular biometry. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate ( CL±P), before and after the introduction in The Netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diagnosis of facial clefts. Methods This was a retrospective cohort study of consecutive cases of CL±P diagnosed in 2001-2010 in the referral region of the Academic Medical Centre. Cases diagnosed prenatally were identified from the hospital's database. These data, grouped according to the periods before and after the introduction of the routine 20-week anomaly scan, were compared with data of all cases managed by the multidisciplinary cleft team, which services the same region, to identify cases of CL±P that were not seen prenatally. Results We identified 123 cases of CL±P diagnosed prenatally, of which 76% (93/123) were diagnosed before 24 weeks. In one case, the CL±P was not confirmed after birth. There were 46 cases with associated structural anomalies and 76 isolated cases. The median gestational age at diagnosis decreased by 2 weeks after 2007 ( P = 0.02). The proportion of isolated clefts detected prenatally increased significantly after 2007 ( P < 0.0001), whereas the proportion of associated clefts remained stable over the years ( P = 0.426). The overall detection rate of CL±P increased from 43% before 2007 to 86% after 2007 ( P < 0.0001), without an increase in terminations of pregnancy. Conclusion Introduction of the routine fetal anomaly scan has decreased the gestational age at diagnosis of CL±P and has increased the proportion diagnosed prenatally, without a significant change in the number of terminations of pregnancy. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To assess systematically the performance of prenatal magnetic resonance imaging ( MRI) in diagnosing the presence, degree and topography of disorders of invasive placentation and to explore the role of the different MRI signs in predicting these disorders. The diagnostic accuracy of ultrasound and MRI in the detection of invasive placentation was also compared. Methods MEDLINE, EMBASE, CINAHL and The Cochrane Library, including The Cochrane Database of Systematic Reviews, Database of Abstracts of Reviews of Effects and The Cochrane Central Register of Controlled Trials, were searched electronically utilizing combinations of the relevant medical subject heading terms, keywords and word variants for 'invasive placentation' and 'magnetic resonance imaging'. Only prospective studies reporting a diagnosis of invasive placentation at the time of MRI and retrospective studies in which the radiologist was blinded to the final results were included in the analysis. The MRI signs explored were: uterine bulging, heterogeneous signal intensity, dark intraplacental bands on T2 weighted sequences, focal interruption of the myometrium and tenting of the bladder. Summary estimates of sensitivity, specificity, positive and negative likelihood ratios ( LR+, LR-) and diagnostic odds ratio ( DOR) were based, depending on the number of studies, upon DerSimonian-Laird random-effect or hierarchical summary receiver-operating characteristics models. Results A total of 18 studies involving 1010 pregnancies at risk for invasive placentation were included. The overall diagnostic accuracy of MRI in detecting the presence of invasive placentation was: sensitivity, 94.4% (95% CI, 86.0-97.9%); specificity, 84.0% (95% CI, 76.0-89.8%); LR+, 5.91 (95% CI, 3.73-9.39); LR-, 0.07 (95% CI, 0.02-0.18); DOR, 89.0 (95% CI, 22.8-348.1). MRI had a high predictive accuracy in assessing both the depth and topography of placental invasion. All five MRI signs showed good predictive accuracy in the diagnosis of disorders of invasive placentation. There was no difference in either the sensitivity ( P = 0.24) or the specificity ( P = 0.91) between ultrasound and MRI for the detection of invasive placentation. Conclusions Prenatal MRI is highly accurate in diagnosing disorders of invasive placentation. Ultrasound and MRI have comparable predictive accuracy. Large population-based studies are needed in order to assess whether ultrasound can predict the depth and topography of placental invasion as reliably as can MRI. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

The article presents the author's views on the non-invasive prenatal testing (NIPT) for pregnant women who want to detect trisomy 21 in their unborn child. It states that NIPT improve the quality of prenatal testing for fetal abnormalities. It further discusses aneuploidy screening, chromosomal microarray analysis and testing in pregnancy.

ABSTRACT Objective To examine the possible association between high fetal nuchal translucency thickness ( NT) and pathogenic chromosomal copy number variants ( CNVs) detected by array comparative genomic hybridization ( CGH) in pregnancies with normal fetal karyotype. Methods Array CGH was carried out in stored samples of chorionic villi from 215 singleton pregnancies resulting in live births in which chorionic villus sampling at 11-13 weeks' gestation for high fetal NT (≥ 3.5 mm) had demonstrated normal karyotype. Results Median fetal NT was 4.0 (range, 3.5-9.5) mm. Array CGH detected additional CNVs in 1.4% (95% CI, 0.5-4.0) of the cases, but none of these was a known pathogenic CNV. Conclusion High fetal NT in the absence of sonographically detectable defects may not be associated with pathogenic CNVs. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To determine associations between fetal lung and liver herniation volumes measured by magnetic resonance imaging ( MRI) and mortality/need for extracorporeal membrane oxygenation ( ECMO) in cases of isolated congenital diaphragmatic hernia ( CDH). A secondary objective was to compare prenatal MRI parameters with two-dimensional ultrasound lung measurements. Methods A retrospective review of medical records of all fetuses with isolated CDH evaluated between January 2004 and July 2012 was performed. The following MRI parameters were measured at 20-32 weeks: observed/expected total fetal lung volume (o/e- TLV), predicted pulmonary volume ( PPV), percentage of liver herniated into the fetal thorax (% LH) and the liver/thoracic volume ratio ( LiTR). These were compared with the ultrasound-determined lung-to-head ratio ( LHR) and the observed/expected LHR (o/e- LHR) in the same cohort. The predictive value of MRI and ultrasound parameters for mortality and the need for ECMO was evaluated by univariate, multivariate and factor analysis and by receiver-operating characteristics curves. Results Eighty fetuses with isolated CDH were evaluated. Overall mortality was 18/80 (22.5%). Two newborns died a few hours after birth. ECMO was performed in 29/78 (37.2%) newborns, with a survival rate of 48.3% (14/29). The side of the diaphragmatic defect was not associated with mortality ( P = 0.99) or the need for ECMO ( P = 0.48). Good correlation was observed among o/e- TLV, PPV, LHR and o/e- LHR as well as between % LH and LiTR ( r = 0.89; P < 0.01); however, fetal lung measurements and measures of liver herniation were not correlated (all P > 0.05). All parameters were statistically associated with mortality or the need for ECMO. The best combination of measurements to predict mortality was o/e- TLV and % LH, with 83% accuracy. Conclusion Mortality and the need for ECMO in neonates with isolated CDH can be best predicted using a combination of MRI o/e- TLV and % LH. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives The aims of this study were to ascertain the outcome of fetuses with an abdominal cyst detected at 11-14 weeks' gestation in our unit and to undertake a review of cases reported in the literature. Methods This was a retrospective study that included all fetuses found to have an abdominal cyst on ultrasound examination at 11-14 weeks, identified over a 14-year period. Pregnancy management and outcome were ascertained from maternal and neonatal records. We also performed a review of the literature using a systematic search strategy, to identify the outcome of similar cases and propose a management algorithm. Results Fourteen cases were identified during the study period, of which four had associated abnormalities. Of the 10 isolated cases, the cyst had resolved at follow-up scan in eight (80.0%), one fetus died in utero at 15 weeks' gestation and the other case underwent surgery for a choledochal cyst 9 weeks after birth. An additional 19 cases were reported in the literature. In eight fetuses there were associated structural abnormalities, of which four had a diagnosis of anorectal malformation after birth. In two of these four, the cyst resolved in the second trimester. Of those cases with an isolated cyst (n = 11), the cyst resolved in seven (63.6%). The remainder were variably diagnosed as hepatic cyst, ileal duplication or choledochal cyst. Conclusion Fetal abdominal cysts at 11-14 weeks' gestation are rare. They constitute an isolated finding in the majority of cases and are usually associated with a good perinatal outcome. In view of the reported association with anorectal and other gastrointestinal malformations, perinatal assessment is recommended, even if the cyst resolves during pregnancy. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To evaluate the usefulness of array-based comparative genomic hybridization ( aCGH) for prenatal genetic diagnosis of congenital heart disease ( CHD), with and without associated anomalies, and to explore the relationship between submicroscopic chromosomal aberrations and CHD. Methods In this prospective study we investigated 76 consecutive singleton fetuses with abnormal cardiac ultrasound findings, normal karyotype and negative or no fluorescence in-situ hybridization results for 22q11.2 deletion syndrome. All pregnancies underwent aCGH in a comprehensive search for chromosomal aberrations. The relationship between copy number variations ( CNVs) and CHD was determined by comparing clinical findings to chromosomal databases. Results CNVs that were benign or had no clinical significance were detected in 18/76 (23.7%) cases. CNVs of unknown clinical significance (i.e. VOUS) were detected in 4/76 (5.3%) cases. Pathogenic CNVs were detected in 5/76 (6.6%) cases. Fetuses with CHD and additional structural abnormalities demonstrated no difference in number of pathogenic CNVs when compared with fetuses with isolated CHD (7.4% (n = 2/27) vs 6.1% (n = 3/49), P > 0.05). Conclusion In this study cohort, aCGH analysis significantly improved the detection of submicroscopic chromosomal aberrations in pregnancies with CHD, as compared with conventional cytogenetics. Our results suggest that aCGH can provide additional genetic information in fetuses with abnormal heart findings. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To review the performance of non-invasive prenatal testing ( NIPT) by low-coverage whole-genome sequencing of maternal plasma DNA at a single center. Methods The NIPT result and pregnancy outcome of 1982 consecutive cases were reviewed. NIPT was based on low coverage (0.1×) whole-genome sequencing of maternal plasma DNA. All subjects were contacted for pregnancy and fetal outcome. Results Of the 1982 NIPT tests, a repeat blood sample was required in 23 (1.16%). In one case, a conclusive report could not be issued, probably because of an abnormal vanished twin fetus. NIPT was positive for common trisomies in 29 cases (23 were trisomy 21, four were trisomy 18 and two were trisomy 13); all were confirmed by prenatal karyotyping (specificity = 100%). In addition, 11 cases were positive for sex-chromosomal abnormalities ( SCA), and nine cases were positive for other aneuploidies or deletion/duplication. Fourteen of these 20 subjects agreed to undergo further investigations, and the abnormality was found to be of fetal origin in seven, confined placental mosaicism ( CPM) in four, of maternal origin in two and not confirmed in one. Overall, 85.7% of the NIPT-suspected SCA were of fetal origin, and 66.7% of the other abnormalities were caused by CPM. Two of the six cases suspected or confirmed to have CPM were complicated by early-onset growth restriction requiring delivery before 34 weeks. Fetal outcome of the NIPT-negative cases was ascertained in 1645 (85.15%). Three chromosomal abnormalities were not detected by NIPT, including one case each of a balanced translocation, unbalanced translocation and triploidy. There were no known false negatives involving the common trisomies (sensitivity = 100%). Conclusions Low-coverage whole-genome sequencing of maternal plasma DNA was highly accurate in detecting common trisomies. It also enabled the detection of other aneuploidies and structural chromosomal abnormalities with high positive predictive value. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd [ABSTRACT FROM AUTHOR]

Objective To evaluate the role of the brainstem-vermis (BV) angle in the diagnosis of fetal posterior fossa abnormalities at 15-18 weeks' gestation. Methods We examined retrospectively three-dimensional (3D) ultrasound volumes acquired at 15-18 gestational weeks in fetuses with normal posterior fossa (controls) and in those with cystic posterior fossa. Whether the fourth ventricle appeared open posteriorly in axial views was noted and the BV angle was measured. A detailed follow-up was obtained in all cases. Results Of the 139 controls, 46 cases were excluded because of inadequate quality of the 3D volumes. Of the 93 remaining normal fetuses, 84 (90.3%) had a closed fourth ventricle and a BV angle < 20°, whereas 9/93 (9.7%) had an open fourth ventricle and a BV angle between 20° and 37°. The study group of 11 fetuses included seven with Dandy-Walker malformation and four with Blake's pouch cyst. In abnormal cases as a whole, the BV angle was significantly increased compared with that in controls (P < 0.0001). However, fetuses with Blake's pouch cyst and normal fetuses with an open fourth ventricle had strikingly similar sonograms: the BV angle was between 20° and 37° and the fourth ventricle appeared open only when viewed using a more steeply angulated scanning plane than that of the standard transcerebellar plane; in fetuses with Dandy-Walker malformation the fourth ventricle was widely open posteriorly, even in the standard transcerebellar view, and the BV angle was > 45°, significantly increased compared both with that in normal fetuses (P < 0.0001) and with that in fetuses with Blake's pouch cyst (P = 0.004). Conclusion An open fourth ventricle is found in about 10% of normal fetuses at 15-18 weeks' gestation. Measurement of the BV angle is useful in such cases, as a value ≥ 45° is associated with a very high risk of severe posterior fossa malformation. [ABSTRACT FROM AUTHOR]

Objective To investigate whether the need for ventriculoperitoneal shunting in neonates with open spina bifida can be predicted prenatally. Methods This was a retrospective cohort study of all fetuses with open spina bifida identified at a single referral center between 1998 and 2012. Ultrasound records were reviewed and outcomes were ascertained from maternal, neonatal and pediatric records. The performance of screening was determined by receiver-operating characteristics (ROC) curve analysis. Results We identified 124 cases of isolated open spina bifida, of which 48 were liveborn. Detailed postnatal follow-up was available for 39 cases, with an average follow-up time of 3.6 years. A shunt was inserted in 22 (56.4%) cases. The width of the posterior horn of the lateral ventricle (Vp) and the ratio between its width and that of the cerebral hemisphere (Vp/H) at diagnosis were significantly greater in cases that required a shunt compared with those that did not subsequently require a shunt (Vp: median 12.4 mm vs 7.7 mm, P < 0.001, and Vp/H: median 0.54 vs 0.33, P < 0.001, respectively). Similarly, at the last scan before delivery, Vp and Vp/H were significantly higher in those requiring a shunt (Vp: median 23.1 mm vs 8.2 mm, P < 0.001; and Vp/H: 0.54 vs 0.21, P < 0.001, respectively). Using Vp and Vp/H at the initial assessment, the rates of detection of fetuses requiring a shunt postnatally were 68.2% and 86.4% for a false-positive rate of 13%, with positive likelihood ratios of 6 and 7, respectively. All fetuses with a Vp of ≥ 12 mm or a Vp/H of ≥ 0.6 at the time of diagnosis required postnatal shunt insertion (positive predictive value = 100%). Conclusions In cases with open spina bifida the need for a postnatal shunt can be predicted prenatally. This novel observation should be useful in the prediction of outcome and therefore for accurate prenatal counseling and triaging cases for fetal surgery. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To compare two different management approaches in prenatally diagnosed twin reversed arterial perfusion ( TRAP) sequence. Methods Retrospective analysis of all cases with TRAP sequence diagnosed in one center over a period of 10 years. Prior to 2010, all cases were managed expectantly until 19 weeks' gestation; thereafter, patients could choose either radiofrequency ablation ( RFA) or expectant management (Group A). From 2010 onward all patients were offered interstitial laser at the time of diagnosis (12 weeks at the earliest) or expectant management (Group B). Results Forty cases were included in the study. In Group A, 23 cases were diagnosed at a mean gestational age of 19.9 ± 6.3 weeks. Sixteen patients were managed expectantly (13 survivors, 81%), while six underwent RFA at the time of diagnosis and one later in pregnancy (six survivors, 86%). In Group B, 17 cases were diagnosed at a mean gestational age of 16.4 ± 4.7 weeks. Six patients chose expectant management (five survivors, 83%) and 11 had interstitial laser therapy at the time of diagnosis (eight survivors, 73%). The loss rate of the pump twin was not significantly different between Group A and Group B (three of 23 vs four of 17; P = 0.3). In Group B the rates of preterm premature rupture of membranes ( PPROM) and delivery < 34 weeks were significantly lower, and gestational age at birth as well as birth weight were significantly higher than in Group A. Conclusion Despite the limitations resulting from its retrospective design, our study on management of TRAP sequence adds some evidence in favor of prophylactic intervention by intrafetal laser from 12 weeks onward. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To assess the presence and degree of indirect signs of agenesis of the corpus callosum ( ACC) according to gestational age and determine the percentage of cases in which each sign is present by 24 gestational weeks. Methods We analyzed retrospectively 54 cases of ACC which underwent three-dimensional neurosonography at our unit between January 2005 and December 2012. A single examination was available in 48 cases and six cases were followed up longitudinally, giving a total of 69 examinations. The following variables were assessed: indication for referral, karyotype, width of the atrium and presence/absence of colpocephaly, the cavum septi pellucidi, dorsal cyst and additional central nervous system ( CNS) and non- CNS anomalies. Results Overall, there were 31 cases of complete ACC ( cACC, 42 examinations) and 23 cases of partial ACC ( pACC, 27 examinations). The mean gestational age was lower in the cases referred because of anomalies other than ACC than it was in those referred because of ventriculomegaly and/or suspicion of ACC (P < 0.05). Atrial width showed a positive linear correlation with advancing gestational age (P < 0.0001); it was < 10.0 mm in 25/34 (73.5%) examinations < 24 gestational weeks and in 9/35 (25.7%) ≥ 24 weeks (P < 0.001). Colpocephaly was present in 20.6% (7/34) of examinations < 24 weeks and in 68.6% (24/35) of those after 23 weeks (P < 0.05). The cavum septi pellucidi was present and visible at least in part in 17 (63%) of the 27 pACC examinations. In nine of the 27 (33.3%) pACC examinations, there was neither ventriculomegaly nor absence of the cavum septi pellucidi. Associated anomalies were present in 25/54 (46.3%) cases, and in 11 these included or consisted of CNS abnormalities. Karyotype was abnormal in seven of the 40 (17.5%) cases in which it was available. Conclusions In a significant proportion of cases, most of the indirect signs of ACC are either absent or barely visible at the time of the midtrimester screening ultrasound examination. Therefore, ACC may escape diagnosis at midtrimester screening ultrasound. In particular, a third of examinations in fetuses with pACC may not show any abnormality in the transventricular screening view < 24 weeks. The medicolegal implications of such findings are important and should be considered. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective Previous studies have recommended that several repeat measurements of nuchal translucency ( NT) be obtained to optimize sensitivity of the screening process. However, truncation is applied within the risk calculation for small NT measurements; therefore, repeating NT measurements in the lower range may be unnecessary. The aim of this study was to determine the optimal number of NT measurements and whether this is dependent on the initial value obtained. Methods We simulated the expected distribution of sets of five repeat NT measurements and their corresponding likelihood ratios ( LR) for a variety of crown-rump length ( CRL) values at 11-14 weeks' gestation, based on the published mixture model for first-trimester NT measurements and on published data regarding NT measurement variability. The ratio between LR obtained from the highest and the initial measurement in each set were computed, with a ratio of 1 indicating that repeat measurements would have no effect on risk estimation. We calculated NT cut-offs below which a change in estimated LR would occur in fewer than 10% of cases if repeat measurements were obtained, and we tested this approach on a real first-trimester screening dataset. Results The simulations performed indicated that repeating NT measurements when the first NT obtained ranged between ≤ 0.9 and ≤ 1.6 mm at CRLs of 45 and 84 mm, respectively, is not useful. When applied to a real dataset, our approach allowed avoiding repetition of measurements in 47/165 cases (28%). Conclusions Although there is some variability in NT measurements, repeat assessment is not useful to optimize screening performance for the smallest NT measurements due to lower truncation limits that are applied in risk calculation. Our study provides NT cut-off values, in relation to CRL, below which it appears that there is no need to repeat measurements once a good quality image has been obtained. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

An abstract of the research paper "Prenatal Ultrasound and Genetic Diagnosis of an Autosomal Recessive Polycystic Kidney Disease Associated With Klinefelter Syndrome: Rare Case Report," by D. Albu and colleagues is presented.

An abstract of the research paper "Prenatal Diagnosis of Hb H Hydrops Fetalis Caused by Haemoglobin Adana," by M. Alberry and colleagues is presented.

An abstract of the research paper "Prenatal Diagnosis of Choledochal Cyst: Two Case Reports," by S. Choi and colleagues is presented.

An abstract of the research paper "Non-Invasive Prenatal Testing For Fetal Chromosomal Abnormalities by Low Coverage Whole Genome Sequencing of Maternal Plasma DNA," by T. Lau and colleagues is presented.