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This study aimed to analyze the ultrasound characteristics of fetal congenital vertical talus (CVT) to provide a detailed basis for the prenatal diagnosis of CVT. We retrospectively analyzed the ultrasonographic findings of fetuses with CVT confirmed by X-ray, surgery, or autopsy from 2010 to 2020. Clinical characteristics and ultrasonographic findings of CVT, including foot morphology, ossification center of the calcaneus and talus, associated deformities, and chromosomal test results, were recorded. Thirteen patients diagnosed with CVT by prenatal ultrasound were confirmed postpartum. Nine cases were bilateral, and four were unilateral. Under two-dimensional ultrasound, 13/13 cases had abnormal foot morphology, and 10 of 13 cases (76.9%) showed that the ossification center of the talus moved downward, and the calcaneus moved laterally. Under three-dimensional ultrasound, 11 cases (84.6%) presented a "rocking chair" appearance, and two cases did not obtain satisfactory three-dimensional image due to oligohydramnios and fetal position. In this group of cases, two cases (15.4%) were isolated CVT, and the other 11 cases (84.6%) were complicated with other abnormalities. Eleven cases of non-isolated CVT and 1 case of isolated CVT were induced, and another patient with isolated CVT had undergone postnatal surgery, which had been followed up for 8 years and recovered well. The combination of fetal foot morphology, ossification center position of the calcaneus and talus, and three-dimensional ultrasound can provide a reliable diagnosis of CVT. Furthermore, we should pay more attention to the evaluation of other systemic and chromosomal abnormalities in CVT cases. [ABSTRACT FROM AUTHOR]

Congenital hemangiomas are rare benign vascular tumors but can lead to serious adverse pregnancy outcomes. Its prenatal diagnosis is a challenge. We explored the clinical applications of prenatal ultrasound for evaluating fetal cutaneous hemangioma and associated complications. A retrospective observational study was conducted comprising a population of pregnant women with fetal cutaneous hemangioma, the latter diagnosed by prenatal ultrasound, between January 2016 and December 2020. The clinical characteristics, sonographic images, complications, and pregnancy outcomes were documented and analyzed. We identified 20 cases of fetal cutaneous hemangioma diagnosed by prenatal ultrasound and confirmed by postpartum examinations. Most hemangiomas were in the head and neck (55%), with either solid isoechoicity (25%) or solid mildly hyperechoic (25%), and well-circumscribed (80%) mass. Eight (40%) fetuses experienced complications, which often occurred in fetuses with large hemangiomas (67% with maximum diameter ≥5 cm; 100% with a volume ≥40 cm3). The most common complications were cardiac-related (88%), including elevated cardiothoracic area ratio, atrioventricular valve regurgitation, and fetal hydrops. A large hemangioma was usually associated with advanced gestational age and a fast hemangioma growth rate. In five (25%) cases, the pregnancy was terminated; these involved hemangioma of the head or neck. One newborn developed Kasabach–Merritt phenomenon, pulmonary hemorrhage and respiratory distress, and died 3 days after birth. Among the 14 (70%) fetuses that survived birth, all hemangiomas disappeared or regressed after treatments with propranolol, interventional surgery, or observed routinely. Prenatal ultrasound examination can accurately diagnose fetal cutaneous hemangioma and related complications to facilitate appropriate management during the pregnancy. Prenatal diagnosis of cutaneous hemangiomas is a clinical challenge. Prenatal ultrasound examination could be a method to accurately diagnose and monitor these hemangiomas. [ABSTRACT FROM AUTHOR]

Purpose: To establish the accuracy of ultrasound in detecting fetal anomalies looking at the concordance between prenatal and postnatal diagnosis. Materials and methods: Retrospective analysis of concordance between prenatal and postnatal/autoptic diagnosis of fetuses with congenital abnormalities. Data are from a single center (Policlinico di Modena); all fetuses included were born between 2017 and 2018 and with a follow-up of at least 6 months. We included all deliveries (including perinatal deaths) and termination of pregnancy (TOP) for fetal indication. We calculated sensibility, sensitivity, Positive and Negative Likelihood Ratio, positive and negative predictive value of ultrasound. Results: During the study period 5920 deliveries, including perinatal deaths, and 28 TOP for fetal indication were registered at our center. The prevalence of congenital malformations was 2.6% (153/5920). At least one ultrasound was performed in our center in 1250 women delivering in our unit. All 28 TOP had the anomaly scan performed in our center. Among the total 1278 women scanned in our unit, there were 128 (10%) suspicious scans. In 5/128 (3.9%) cases we diagnosed a false alarm; in 8/128 (6.2%) cases an evolutive malformation with in-utero regression. The prenatal diagnosis was confirmed in 77 (60.2%) cases at birth and in 28/128 (21.9%) at postmortem analysis while there were 10/128 false positive (7.8%). Among the 153 congenital malformations diagnosed at birth, the anomaly scan was performed in our Prenatal Medicine Unit in 92 (60.1%) fetuses. Among these, there were 15 false negatives (9.8%) while in 77/92 (83.7%) the malformation at birth agreed with the sonographic diagnosis. Sensitivity and specificity of ultrasound were 87.5% (IC95 80.2-92.8%) and 99.1% (IC95 98.4-99.6%) respectively with a Positive Likelihood Ratio and Negative Likelihood Ratio of 101.3 (IC95 54.5-188.5) and 0.13 (IC95 0.08-0.2); Positive Predictive Value and Negative Predictive Value were 91.3% (IC95 85-95.1%) and 98.7(IC95 98-99.2%). Conclusion: Anomaly scan in pregnancy allows the diagnosis of congenital malformations with a sensibility of 87.5% and specificity of 99.1%. The main limitations of this study are its retrospective design and that it was conducted in a single referral center. [ABSTRACT FROM AUTHOR]

Objective The aim of this study to describe the presentation of double inlet left ventricle (DILV) very early in prenatal life, to assess its prevalence and to portray the associated anomalies. Methods This was a retrospective study which included all the women who attended our clinic for early fetal screening sonography, between 2006 and 2020. Most of the screening was done at 14–16 weeks of gestation (except one high risk pregnancy, which was performed at nine gestational weeks), and included an anatomic fetal scan and Doppler imaging. The diagnosis of DILV was done based on sonographic features of abnormal four-chamber view. Complete fetal echocardiography was carried out to rule out additional heart malformations. Results Out of 26,805 early prenatal transvaginal ultrasound screening examinations, 14 cases of DILV were diagnosed. The gestational age range of our DILV diagnosis was 9–16 gestational weeks. All pregnancies were terminated as per parental request. In five fetuses, a chromosomal analysis was performed, one had trisomy 21, and the rest fetuses had a normal karyotype. In two fetuses, an autopsy was performed and the diagnosis of DILV was confirmed in both. Conclusions Very early prenatal detection of DILV is possible and may have an implication in parent decision regarding their pregnancy future. [ABSTRACT FROM AUTHOR]

Purpose To derive a prescriptive sex-specific fetal growth standard and assess clinical management and outcomes according to sex-specific growth status. Materials and methods This was a secondary analysis of the Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be (nuMoM2b), a prospective observational study of 10,038 nulliparas from eight U.S. centers who underwent ultrasounds at 14–20 and 22–29 weeks with outcomes ascertained after delivery. From these, we selected a nested cohort of lower risk participants (excluded those with chronic hypertension, pre-gestational diabetes, suspected aneuploidy, and preterm delivery) to derive a sex-specific equation for expected fetal growth using fetal weights by ultrasound and at birth. We compared the male-female discrepancy in the rate of weight <10th (small for gestational age [SGA]) and >90th (large for gestational age [LGA]) percentiles between the sex-specific and sex-neutral (Hadlock) standards. Using the full unselected cohort, we then assessed outcomes and clinical management according to sex-specific SGA and LGA status. Results Overall, 7280 infants in the lower risk nested cohort were used to derive a sex-specific equation with fetal sex included as an equation intercept. The sex-neutral standard diagnosed SGA more often in female newborns (21% vs. 13%, p < .001) and LGA more often in male newborns (5% vs. 3%, p < .001). The sex-specific standard resolved these disparities (SGA: 9% vs. 10%, p = .23; LGA: 13% vs. 13%, p = .58). To approximate an unselected population, 1059 participants initially excluded for risk factors for abnormal growth were then included for our secondary objective (N = 8339). In this unselected cohort, 39% (95% CI 37.0–42.0%) of the 1498 newborns classified as SGA by the sex-neutral standard were reclassified as appropriate for gestational age (AGA) by the sex-specific standard. These reclassified newborns were more likely to be delivered for growth restriction despite having lower risk of morbidity (females) or comparable risk of morbidity (males) compared to newborns considered AGA by both methods. Of the 6485 newborns considered AGA by the sex-neutral standard, 737 (11.4%, 95% CI 10.6–12.2%) were reclassified as LGA by the sex-specific standard. These reclassified newborns had higher rates of cesarean for arrest of descent, cesarean for arrest of dilation, and shoulder dystocia than newborns considered AGA by both methods. None were reclassified from LGA to AGA by the sex-specific standard. Conclusion The Hadlock sex-neutral standard generates sex disparities in SGA and LGA at birth. Our sex-specific standard resolves these disparities and has the potential to improve accuracy of growth pathology risk stratification. [ABSTRACT FROM AUTHOR]

Objective: In this study, we report the indications for prenatal cytogenetic diagnosis of triploid cases, in an attempt to identify clues to early diagnosis.Study Design: This was a retrospective analysis of prenatal cases of triploidy during a 9-year period at mainland China. Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, fetal ultrasound findings, and pregnancy outcomes.Results: A total of 22 singleton pregnancies affected with triploid fetuses were detected. The fetal karyotype included 69,XXX (72.7%) and 69,XXY (27.3%). Eighteen cases were identified by the first trimester screening program. One case was missed by maternal cell-free DNA testing, but detected by second trimester anatomy scan. Three cases escaped the first trimester screening and were detected by second trimester anatomy scan.Conclusions: The present study demonstrates that most triploid cases can be diagnosed prenatally during the first trimester. The early asymmetrical fetal growth restriction, structural anomalies, and extremely high risk serum screening result for trisomy 21 or 18 should alert the physicians to the investigation of triploidy.Key Message: Ultrasound-based first-trimester screening plays a major role in early diagnosis of fetal triploidy. Future replacement of routine first-trimester screening by cell-DNA testing might miss the chance of early diagnosis and management of triploid pregnancies. [ABSTRACT FROM AUTHOR]

X-linked Opitz G/BBB syndrome (XLOS) is a multiple congenital disorder inherited in an X-linked manner. XLOS may be suspected, in prenatal age, on the basis of sonographic findings in the second and/or third trimester of gestation. Pathogenetic variants in MID1 gene have been reported in individuals with XLOS. Prenatal genetic testing is offered for pregnancies at risk, in which the mutation in the family has been identified. To date no cases of prenatal diagnosis, based on first-trimester ultrasound data, have been reported. We present a case of a fetus at 12 gestational weeks with ultrasound multiple anomalies, including increased nuchal translucency, heart defects, cleft lip and palate, enlarged fourth ventricle absence of ductus venosus and family hystory of XLOS. The genetic prenatal test detected the c(0).1286-1G > T mutation of MID1 gene. Data about prenatal ultrasonographic findings consistent with XLOS are limited to second and third trimester. This is the first case reporting ultrasound detectable midline defects suggestive of XLOS as early as the first trimester of gestation. This case also suggests that when multiple anomalies are detected in a fetus with normal chromosomal structure, the possibility of a monogenic disorder must be considered. [ABSTRACT FROM AUTHOR]

Objective: To define the incidence of variants of aortic arch sidedness in fetuses undergoing routine first trimester ultrasound examination.Methods: The data for this study were derived from prospective routine ultrasound examination at 11+0 to 13+6 weeks' gestation in singleton pregnancies examined in a local population between January 2014 and March 2018. We examined the incidence of isolated right aortic arch (RAA) and double aortic arch (DAA) in the local, screened population and compared the groups with and without these abnormalities.Results: The study population of 33,202 pregnancies included 18 (5.4 per 10,000) cases with isolated RAA and 5 (1.5 per 10,000) with DAA. In the group with isolated RAA or DAA, compared to those without, the median maternal age was higher and the incidence of conceptions from in vitro fertilization (IVF) was eight-fold higher. The prevalence of 22q11microdeletion was 5% in patients with RAA from this local population.Conclusions: The incidence of isolated RAA and DAA in a local population undergoing routine first-trimester ultrasound examination is 2-3-fold higher than that reported in postnatal studies and the risk for these abnormalities is substantially increased in fetuses conceived by IVF. [ABSTRACT FROM AUTHOR]

Objective: To review the perinatal and long-term outcomes of symmetric and ventrally conjoined twins evaluated prenatally by ultrasound and fetal magnetic resonance imaging (MRI).Methods: From March 2010 to January 2019, cases of symmetric and ventrally conjoined twins, who were prenatally diagnosed and referred to the Clínica Diagnóstico por Imagem (CDPI), Rio de Janeiro, Brazil, for prenatal evaluation by ultrasound and MRI were selected. The postnatal information was collected from hospitals where the twins were born and/or treated and from parents' verbal and written information.Results: Four cases of symmetrical and ventrally conjoined twins were selected. Of these, two were omphalopagi and two thoracopagi. One pair of thoracomphalopagus died early in utero and the other died 6 days after birth. The outcome of the two omphalopagus pairs were separation in emergency surgeries after birth, with neonatal demise of one of the twins due to congenital malformations. In cases of omphalopagi, fetal MRI presented important information of the twins' anatomy before emergency separation of both pairs.Conclusion: Despite the apparently similar conditions of twins with ventral fusion, ventrally attached twins have very different outcomes, most adverse for thoracomphalopagus and related to the singular anatomy of the pair, associated malformations and the extension of the adhesion, requiring individual evaluation of the cases. Fetal MRI is as an important tool for the postnatal surgery management of twin neonates, providing crucial information in cases where urgent separation is required. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this article was to describe our experience with the prenatal diagnosis of CHD in patients referred to our Fetal Cardiology Unit.Methods: Prospective cohort study of consecutive fetuses referred for advanced fetal echocardiography to our Fetal Cardiology Unit during a 3-year period (September 2015-September 2018).Results: Totally 809 fetuses were evaluated, with 1263 fetal advanced echocardiographies performed. Suspected cardiac abnormality was the most common indication for referral (62.2%). Only 7.3% of patients had known morbidities or risk factors for CHD. Mean gestational age at first examination was 25.6 ± 6.4 weeks. A total of 528 (65.3%) fetuses were found to have a cardiac defect: 40.7% had isolated CHD while 24.6% had associated anomalies. The most common defects found were ventricular septal defects (20.3%), followed by conotruncal defects (9.7%), hypoplastic left heart syndrome (9.3%), fetal arrhythmias (8.9%), and venous anomalies (8.7%). 31.6% presented abnormal genetic studies, the most frequent being Down syndrome (23/212, 10.8%), followed by DiGeorge syndrome (11/212, 5.2%).Conclusions: Prenatal screening and diagnosis of CHD in Mexico are feasible, with suspected cardiac abnormality being the main reason for referral to a specialized Fetal Cardiology Unit. Efforts must be made to make screening available to the general population in the first and second trimesters of pregnancy by fetal medicine or trained specialists, in order to identify fetal CHD and offer advanced echocardiography, genetic studies, timely fetal cardiac intervention in selected cases, and delivery in tertiary centers, to improve overall survival. [ABSTRACT FROM AUTHOR]

Aims: To compare the screening capability of ultrasonography in detecting trisomy 13 (T13) using a multiparameter sonographic protocol (NT+) with a classical combined screening test (CST) protocol.Methods: The project was a prospective, multicenter study based on a nonselected mixed-risk population of women referred for a first-trimester screening examination. Each subject was offered a choice between either the gold standard, traditional combined screening test (CSG arm) or the ultrasound-based screening protocol (USG arm). General and MA-based screening performances were checked.Results: The study population comprised 20,887 pregnancies: 12,933 in the CSG arm, including 27 cases of T13, and 7954 in the USG arm, including 30 cases of T13. The DR for T13 was higher in the CSG arm than in the USG arm for all tested cutoff points: 1/50 (88.5 versus 63.3%, respectively), 1/100 (88.5 versus 70%, respectively) and 1/300 (92.3 versus 83.3%, respectively). Using the ROC curves for fixed FPRs of 3 and 5%, the T13 detection rate in our study reached 90 and 93%, respectively, in the USG arm and 92 and 96%, respectively, in the CSG arm. MA influenced the T13 screening performance in the USG arm and reduced the DR in patients <31 years. Such influence was not detected in the CSG arm.Conclusions: Classic CST was more effective in detecting T13 than the ultrasound-only approach. However, the recommended cutoff of 1/50 showed unsatisfactory results for both traditional CST and the multiparameter sonographic test we proposed. [ABSTRACT FROM AUTHOR]

Introduction: The primary aim of this study was to ascertain the strength of association between cerebral blood flow assessed in anterior (ACA), middle (MCA), and posterior (PCA) cerebral arteries and the following clinical outcomes: small for gestational age (SGA), induction of labor (IOL) for oligohydramnios and caesarean section (CS) for nonreassuring fetal status (NRFS) during labor.Material and Methods: Retrospective analysis of prospectively collected data on consecutive singleton pregnancies from 40 0/7 to 41 6/7 week of gestation. UA, ACA, MCA, PCA pulsatility index (PI) were measured from 40 weeks of gestations. Furthermore, the ratios between cerebral blood flow and UA (CPR, ACA/UA and PCA/UA) were calculated and correlated with the observed outcomes.Results: Two hundred twenty-four singleton pregnancies were included in the study. Mean PI of either ACA (p = .04), MCA (p = .008), and PCA (p = .003) were lower in the SGA compared to non-SGA group; furthermore, mean PCA PI was significantly lower than MCA PI (p = .04). Furthermore, CPR (p = .016), ACA/UA (p = .02), and PCA/UA (p = .003) were significantly lower in the SGA group compared to controls. UA, ACA, MCA, and PCA PI were higher in women undergoing IOL for oligohydramnios compared to controls. Logistic regression analysis showed that CPR and PCA/UA ratio were independently associated with SGA. SGA, ACA PI, and ACA/UA were independently associated with CS for NRFS. Finally, birthweight centile, were independently associated with IOL oligohydramnios. Despite this, the predictive accuracy of Doppler in detecting any of the explored outcome was only poor to moderate.Conclusion: Redistribution of cerebral blood flow at term is significantly associated with SGA, IOL for oligohydramnios and CS for NRFS in labor. However, the predictive accuracy of Doppler at term is only poor to moderate, thus advising against its use in clinical practice as a standalone screening test for adverse perinatal outcome in pregnancies at term. Key Message Redistribution of cerebral blood flow at term is significantly associated with SGA, IOL for oligohydramnios and CS for NRFS in labor. [ABSTRACT FROM AUTHOR]

Objectives: The main objective of this study was to evaluate the accuracy of prenatal ultrasound to diagnose corpus callosum alterations, compared to prenatal magnetic resonance imaging (MRI), postnatal image techniques (ultrasound and/or MRI), and post-mortem examination in terminated pregnancies.Methods: Retrospective review of 86 cases of prenatal ultrasound diagnosis of corpus callosum anomalies between January 2007 and December 2015 at a third level Maternal Fetal Medicine center. The study reviewed the findings of prenatal ultrasound and MRI, post-mortem examination in cases of termination of pregnancy (TOP) or stillbirths and postnatal ultrasound, and MRI in neonates. The anomalies of corpus callosum (CC) were classified as complete agenesis of the corpus callosum (ACC), partial ACC, or dysgenesis of CC.Results: Fifty-eight (67.4%) cases resulted in TOP, 26 (30.2%) cases opted to continue with the pregnancy and two (2.3%) cases were lost to follow up. Among the 26 cases that continued with the pregnancy, 24 (92.3%) were live births and two (7.7%) were stillborn. All cases in which a third trimester MRI was performed (n = 46) confirmed the prenatal ultrasound diagnosis of CC anomaly. In seven (15.2%) of them, the MRI found additional intracranial findings and in three cases (6.5%) the type of CC anomaly (complete, partial, or dysgenesis) was reclassified (Kappa index: 0.86, 95% CI: 0.71-1.00). CC anomalies were confirmed in 46 (95.8%) of the 48 cases in which a post-mortem examination was available, the type of anomaly being reclassified in three cases (6.3%) (Kappa index: 0.88, 95% CI: 0.75-1.00). Among the 10 cases in which a postnatal ultrasound was performed, the CC anomaly was confirmed in all and the type of anomaly was reclassified in 1 (10%) of them (Kappa index: 0.75, 95% CI: 0.32-1.00).Conclusion: Corpus callosum agenesis can be detected on the routine mid-trimester ultrasound scan. Prenatal ultrasound and MRI can accurately classify the type of CC abnormality. Moreover, third trimester MRI can detect additional intracranial anomalies in 15% of cases. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the usefulness of color Doppler in fetal cardiac ultrasound screening in the second trimester.Methods: Fetuses who underwent ultrasound screening at 18-20 weeks' gestation at Showa University Hospital between 2011 and 2016 were evaluated. After delivery, neonatal congenital heart abnormalities were reviewed and compared with the antenatal ultrasound findings. Since 2014, we have added color Doppler to the routine B mode evaluation of the fetal heart. Congenital heart diseases (CHDs) found antenatally and postnatally were compared before and after protocol alternation. Medical records of all fetuses who underwent ultrasound screening at 18-20 weeks' gestation at Showa University Hospital between 2011 and 2016 were retrospectively reviewed.Results: There were 47 cases of CHDs confirmed postnatally. The detection rates of CHDs were 45.0% (9/20) in 2011-2013 and 55.6% (15/27) in 2014-2016. In 2011-2013, cases with antenatal diagnosis showed obvious abnormal findings of three-vessel view and four-chamber view with the B mode. In 2014-2016, the detection rate of isolated ventricular septal defect (VSD) was elevated from 10 to 42.9% using color Doppler.Conclusions: In this study, color Doppler improved the detection rate of CHDs. Color Doppler could give us additional information on blood flow although the canal or vessel is too small to detect morphological changes in the second trimester. It might be a useful tool for screening of CHDs with stenosis, regurgitation, and shunt that are difficult to detect by only the B mode in the second trimester. [ABSTRACT FROM AUTHOR]

Purpose of the article: Placental accreta spectrum (PAS) is the most dangerous iatrogenic complication of cesarean potentially leading to massive intra-partum haemorrhage and death. Despite this, identification of near miss cases of PAS has not been consistently reported in the published literature. The aim of this systematic review was to explore prenatal and surgical characteristics of near miss cases of PAS disorders.Materials and methods: Medline, Embase, CINAHL, SciELO, and Cochrane databases were searched. Only studies including near miss cases of PAS disorders in which a detailed description of the clinical course, severity of placental invasion, role of prenatal imaging, and surgical management were considered eligible for the inclusion in the present systematic review. Random-effect meta-analyses of proportions were used to pool the data.Results: Thirty-four studies were included in the systematic review. The incidence of placenta accreta, increta, and percreta in near miss cases of PAS disorders was 0% (95% CI 0-24.6), 17.3% (95% CI 8.4-28.6) and 82.7% (95% CI 71.4-91.6). S1 invasion, defined as invasion in the upper posterior bladder wall was present in none of the near miss cases of PAS while all included cases showed S2 invasion. Prenatal imaging, either ultrasound or magnetic resonance imaging, detected invasive placenta in 54.4% (95% CI 41.0-67.5). Clinical symptoms occurred in 65.3% (95% CI 52.1-77.4) of near miss cases of PAS before surgery, while the corresponding figures for symptoms occurring during and after surgery were 65.5% (95% CI 52.2-77.5) and 50.0% (95% CI 36.5-63.5) of cases, respectively. Invasion in the inferior part of the lower uterine segment, posterior bladder and parametria was associated with a high risk of morbidity.Conclusion: Near miss cases of PAS are commonly associated with posterior bladder or parametrial invasion and placenta percreta. Further studies are needed in order to identify women affected by PAS disorders at high risk of surgical complications. [ABSTRACT FROM AUTHOR]

Objective: To examine the occurrence and outcomes of fetuses with wide subarachnoid space (WSS) without ventriculomegaly in pregnant women with fetal macrocephaly as a sole diagnosis.Study design: A retrospective study was performed, analyzing patients with fetal macrocephaly between the years 2008 and 2018. All these patients underwent MRI, in order to detect brain anomalies. In the absence of any other brain abnormality, they were evaluated for WSS and their offspring's database was followed for at least two years after birth.Results: Ten patients were found to be carrying fetuses with macrocephaly, nine of them were diagnosed with WSS without ventriculomegaly prior to delivery. Following at least two years of follow up, all patients did not present significant neurodevelopmental abnormalities, apart from one child that had a genetic mutation of 15q21.2-22.31 deletion with other anomalies that were not diagnosed prenatally.Conclusions: We present herein for the first time in the literature a cohort of patients with a prenatal diagnosis of WSS without ventriculomegaly in fetuses with macrocephaly. Our data show that, in the presence of normal anomaly scan and normal chromosomal study, there is a low chance for significant neurodevelopmental abnormalities in fetuses with WSS without ventriculomegaly. [ABSTRACT FROM AUTHOR]

Objective: To assess the performance of sonography in the detection of fetal nonchromosomal abnormalities using a standard anatomic examination protocol proposed by International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) at 11+0-13+6 weeks.Materials and methods: A prospective observational study was conducted between June 2013-May 2017 in singleton pregnancies attending for a routine scan at 11+0-13+6 weeks. All examinations were performed by maternal-fetal medicine specialists certified by the Fetal Medicine Foundation according to the anatomic examination protocol described in the ISUOG guidelines. First-trimester findings were compared to those of the anomaly scan at 20+0-23+6 weeks and the postnatal examination. The primary outcome was the detection rate of major structural abnormalities in fetuses with normal karyotype at 11+0-13+6 weeks.Results: After excluding 17 chromosomal abnormalities, major fetal structural defects were detected in 57 (1.7%) of the remaining 3361 cases. Of these, 27 (47.3%) were detected at 11+0-13+6 weeks, including all cases of acrania (4), exomphalos (4), megacystis (2) and body stalk anomaly (2). Furthermore, there was a first-trimester diagnosis in 36.4% (4/11) of major cardiac defects, 38% (6/16) of limb defects, and 100% (2/2) of facial clefts.Discussion: Targeted ultrasound examination may identify all the so called "always" detectable major abnormalities and a significant proportion of the "sometimes", detectable at 11+0-13+6 weeks. [ABSTRACT FROM AUTHOR]

Purpose: To determine the value of fetal magnetic resonance imaging (MRI) to detect renal duplication.Methods: In this retrospective study, prenatal MRI and ultrasound (US) diagnoses were compared with postnatal imaging and/or surgical data. Twenty-six pregnant women (average age, 32 years; range, 29-36 years) underwent MRI at a mean gestational age of 25 weeks (range, 21-33 weeks). MRI was performed with a 1.5-T unit within 1 week after prenatal ultrasound examination. The steady-state free-precession (SSFP), single-shot turbo spin echo (SSTSE), and T1-weighted fast imaging sequences were used.Results: Twenty-four cases of fetal renal duplications diagnosed using prenatal MRI were judged to be correct when compared with postnatal imaging and surgical follow-up. In 18 of 26 cases, the diagnoses established using prenatal US were correct when compared with postnatal diagnosis. In 2 of 26 cases, the diagnosis with both prenatal US and MRI were not entirely correct when compared with postnatal diagnosis. In the two cases, magnetic resonance (MR) identified left two pelvicalyceal systems but could not found ipsilateral ectopic ureteral orifice, US only found left hydronephrosis but could not found duplex collection system. In other six cases, MR corrected the US diagnosis by providing a more accurate renal morphology or additional diagnostic information.Conclusions: MRI is an effective method for the diagnosis of fetal duplex kidney deformity and associated ureteral and other abnormalities. [ABSTRACT FROM AUTHOR]

Objective: To assess perinatal and long-term follow-up outcomes of fetal cervical masses diagnosed by three-dimensional (3D) magnetic resonance imaging (MRI) and 3D virtual models.Methods: This retrospective cohort study evaluated 15 pregnant women (age, 21-38 years) at 29-40 weeks of singleton gestation, whose fetuses exhibited congenital oral and cervical masses. These women were referred to our facility because of suspected fetal malformations on routine obstetric ultrasound, and the cases were confirmed, excluded, or complemented by MRI. Demographic data and perinatal and long-term follow-up outcomes were assessed.Results: Cervical masses were predominant in females (3:2), and the most frequent diagnosis was lymphatic-venous malformation (71%). The masses were cystic in 53.3% of the cases and solid in 46.7%. The esophagus and trachea were displaced in 46.6% of the cases. Associated malformations were diagnosed in 13.3% of the cases. There was complete agreement between prenatal MRI and postnatal diagnoses. Among the newborns, 40% had complications and 46.6% were admitted to the neonatal intensive care unit. Two infants died from complications due to epignathus. Surgical resection was performed in 33.3% of the cases, including complete resection in 26.6%. Sclerotherapy was administered to 53.3% of the cases, with complete remission achieved in 50% of these cases.Conclusion: Cervical masses diagnosed in the prenatal period had good postnatal outcomes except for cases of epignathus, which were associated with high mortality. MRI demonstrated the relationship between cervical masses and adjacent organs and allowed 3D virtual reconstruction of the airways. There was complete agreement between the prenatal diagnosis of cervical masses on MRI and postnatal diagnosis. Surgical treatment was effective in most cases, and sclerotherapy was satisfactory in cases with intrathoracic components. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to compare volumetric parameters in the abnormal and normal posterior fossa using the Virtual Organ Computer-aided AnaLysis (VOCAL™) technique to determine whether fetuses with an abnormal posterior fossa have different volumes.Methods: A prospective study was conducted on 17 fetuses with an abnormal posterior fossa including, Dandy Walker malformation (DWM) (n = 6), vermian hypoplasia (VH) (n = 3), mega cisterna magna (MCM) (n = 8), and 99 healthy control fetuses from 20 to 34 weeks' gestation. Measurement of the fetal cisterna magna and cerebellar volume was performed in the standard transcerebellar plane through the VOCAL™ method. To establish the correlation of volumes with gestational age, polynomial regression analysis was performed. For comparison between groups, univariate ANCOVA was performed using gestational age as a covariate. The reliability was analyzed by the intraclass correlation coefficient (ICC).Results: Cerebellar volume and cisterna magna volume were correlated with gestational age. Posterior fossa volume was significantly larger in DWM (p < .0001) and MCM (p < .0001) in comparison to the control group. In VH group, cisterna magna volume does not seem to expand (p = .298). Cerebellar volume does not seem to change in subgroups when the influence of gestational age is discarded (p = .09). The ratio of cerebellar volume to the cisterna magna volume decreases significantly in abnormal fetuses (p < .0001). Good intraobserver and interobserver reliabilities were found for both cerebellum and cisterna magna measurements.Conclusions: Volume analysis may have a role in discrimination of different posterior fossa pathologies. [ABSTRACT FROM AUTHOR]

Objective: To determine the prevalence, sonographic spectrum, and clinical significance of echogenic material in the fetal gallbladder in our population.Methods: Sonographic visualization of the fetal gallbladder was attempted in 3894 consecutive third-trimester pregnancies (4026 fetuses). Gallbladder content was classified as clear (anechoic), containing echogenic material that was either diffuse (sludge), or presenting as a single focus or multiple foci (gallstone(s)). Information on the clinical course was obtained by reviewing the medical records or contacting the provider or the parents themselves.Results: During the three and a half-year study period from July 2014 to December 2017, 19 fetuses were identified as having echogenic material in the gallbladder (prevalence 1/211, 0.47%). Among them, echogenic biliary sludge was found in eight fetuses (42%); all eight were asymptomatic and a normal gallbladder was documented postnatally in four of them. Single (n = 3) or multiple (n = 8) echogenic foci were found in 58% of cases, which was associated with a good prognosis and subsequent resolution between 1 and 10 months of life in all cases.Conclusions: The prevalence of echogenic material in the fetal gallbladder in our population was similar to that previously reported in the literature. The prognosis appears to be favorable, with resolution and without subsequent postnatal hepatic or gastrointestinal complications in all cases. [ABSTRACT FROM AUTHOR]

Objective: Closed spina bifida (CSB) is an abnormality of the posterior arch formation in which the defect is covered by the skin, without protrusion of nervous tissue. The prenatal diagnosis of CSB is very difficult, rarely diagnosed antenatally.Methods: We present a multicenter case series of six prenatal diagnosis of CSB using two-dimensional (2D) ultrasonography complemented with three-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI). All cases of prenatal diagnosis of CSB were confirmed in the postnatal period/termination of pregnancy by both clinical and/or imaging diagnosis (ultrasonography and MRI).Results: 2D ultrasonography allowed the prenatal diagnosis of six cases. We observed two cases of subcutaneous lipomas, two cases of meningoceles, one case of fibrolipomas, and one case of false-positive CSB (meningomyelocele). 3D ultrasonography using rendering mode was important in one case of meningocele (case# 3). Three cases were delivered at term and one of them was submitted to corrective surgery. All these three newborns were discharged from the hospital well and without neurologic signs. Termination of pregnancy was performed in three cases.Conclusion: During prenatal evaluation, detailed ultrasonographic assessment of the entire spine with the identification of the position and morphology of the conus medullaris and absence of cranial signs of spinal dysraphism are the most valuable sonographic clues for the diagnostic of the CSB. [ABSTRACT FROM AUTHOR]

Objective: We aimed to evaluate congenital heart disease (CHD) cases according to EUROCAT subgroup classification that were diagnosed during the prenatal period in our center.Methods: CHDs that were prenatally diagnosed using ultrasonography and confirmed by fetal echocardiography were reviewed over a 10-year period. Subgroup classification was finalized at the post-partum period in terms of the EUROCAT guide 1.3. Congenital heart defect subtypes and obstetric outcomes (gestational week at delivery, birth weight, gender, extracardiac structural abnormalities, karyotype results if performed) were analyzed.Results: The data of 180 cases with CHD were examined. Left ventricular outflow tract obstruction (LVOT) was the most common CHD subtype (57/180; 31.6%), which included 48, five, and four cases of hypoplastic left heart syndrome (HLHS), coarctation of the aorta, and aortic valve atresia/stenosis, respectively. Eighteen pregnancies were terminated; the most common CHD subtype among patients of terminated pregnancies was hypoplastic left heart syndrome (HLHS) (n = 7, 38.8%). The most common extracardiac malformations were a single umbilical artery, esophageal atresia, and situs inversus in our study group. Eighteen of the 96 (18.75%) neonates with CHD died during the neonatal period. The most common CHD subtype was HLHS (7/18; 38%) among the newborns who died after birth.Conclusion: Prenatal diagnosis of a CHD and subgroup classification is very important for clinical decision making, including prenatal management, recommendations for termination of the pregnancy, postnatal management of the patient, and for early referral to pediatric cardiology and cardiovascular surgery centers. [ABSTRACT FROM AUTHOR]

Background: Congenital high airway obstruction syndrome (CHAOS) is a near fatal condition, except when the ex utero intrapartum treatment (EXIT) procedure is performed as rescue. After antenatal diagnosis of the condition, counseling regarding prognosis and outcome needs to be provided.Case: We describe here a case with CHAOS due to isolated fetal laryngeal atresia, presented at our center at 33-week gestation. After counseling regarding the uncertain outcome, consent for elective caesarean was not given. Intact cord resuscitation (ICR) was done as a rescue by a well-coordinated team during delivery. Tracheostomy was performed successfully under local anesthesia within five minutes, while the cord was still attached to the placenta. The baby had supraglottic stenosis on CT scan. Reconstructive surgery is planned after 8 months. The literature review showed 24 reports of 28 cases with intrinsic airway obstruction managed by EXIT, laryngeal atresia was the most common cause (18/28). The outcome was poor in tracheal agenesis (1/4 survived) whereas those having laryngeal web or small communication (4/4 survived) had better outcome. Tracheal reconstruction was done in 3/28 cases only.Conclusions: The case emphasizes that ICR and tracheostomy during vaginal delivery can rescue the baby. The literature reviewed provided insight into the outcome of CHAOS cases in world literature. [ABSTRACT FROM AUTHOR]

Objective: To describe a new first-trimester sonographic landmark the maxillo-occipital line which may be useful for early screening of open spina bifida.Methods: Maxillo-occipital line was prospectively evaluated in 100 low-risk pregnancies at the time of first-trimester sonographic screening examination between 11 and 13 + 6 weeks' gestation. All the pregnant women subsequently had a normal second-trimester scan and normal outcomes. Midsagittal brain images of 14 fetuses with known diagnosis of open spina bifida were evaluated retrospectively to review the maxillo-occipital line.Results: None of the 100 fetuses evaluated prospectively with the maxillo-occipital line below the junction of the midbrain and brain stem were affected by open spina bifida. The aqueduct of Silvius to occiput distance measurement was not obtained in five cases. In all, 14 cases with a diagnosis of open spina bifida, the junction between the midbrain and brain stem, were below the maxilla-occipital line.Conclusion: Maxillo-occipital line is an easy addition to the evaluation of first-trimester screening of open spina bifida. Further studies are needed to determine the false-positive and false-negative rates of this technique. [ABSTRACT FROM AUTHOR]

Purpose: Signs of congenital obstruction of the gastrointestinal tract (GIT) organs may present on prenatal ultrasonography. Prenatal detection is influenced by several factors, including obstruction site, lesion degree (partial or complete), the occurrence of associated malformations, and gestational week at screening. Here, we aimed to evaluate the success of prenatal diagnosis of GIT obstructions in a tertiary center in Turkey. Materials and methods: The study included 34 prenatally and 22 postnatally diagnosed babies with different GIT malformations. GIT obstructions were divided into five groups according to the level of obstruction (A. esophagus, B. stomach and proximal duodenum, C. small intestine, D. large intestine, E. multiple obstructions). Results: The prenatal detection rate among all cases was 60.7%. The associated structural malformation and aneuploidy rates were 21.4 and 5.4%, respectively. Twelve neonates died within the first day after birth due to various reasons. The remaining 43 babies underwent surgery at different times according to their clinical conditions. The mean time between birth and surgery was 4.5 days (range, 1-56 days). There were 12 postoperative deaths due to various complications, and one case died at 2 years of age. Overall, 31 of the 56 (55.4%) babies were alive during the follow-up period. The successful prenatal diagnosis rates were 57.2, 85.8, 75, 25, and 80% in groups A, B, C, D, and E, respectively. The median birth weight increased significantly in groups A through D (p = .04). However, there were no intergroup differences in the Apgar scores, associated abnormality rates, time to surgery, and number of babies operated. Conclusions: These findings demonstrate the importance of prenatal ultrasonography and success of prenatal detection especially for upper GIT abnormalities. Although there are some prenatal signs of GIT obstructions, such as double bubble, polyhydramnios, enlarged bowel, and failure to visualize the stomach, early prenatal diagnosis is difficult and can be delayed, resulting in the detection of GIT obstruction after birth. When suspecting GIT obstruction, clinicians should evaluate the fetal anatomy carefully and be aware of associated chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

Background: The Seckel syndrome is an autosomal recessive inherited disorder that characterized severe pre- and post-natal growth restriction, microcephaly and a bird-like fetal head appearance. A few clinical reports revealed prenatal sonographic findings in the literature.Case: A 29-year-old, Turkish, gravid 3, para 2, woman was referred to our center for further evaluation of a suspicion of microcephaly at 21 weeks' gestation. The couple was third degree consanguineous. Detailed 2- and 3-dimensional sonography scan revealed a bird-headed appearance, prominent eyes with hypotelorism, a severe microcephaly (bi-parietal diameter and head circumference were both < 1. Percentile for 21 weeks' gestation), a beaked nose, and increased nuchal fold thickness measurement (> 95th percentile), low-set and prominent ears. All sonographic findings suggested Seckel syndrome and the couple elected termination of pregnancy in the present case.Summary: Seckel syndrome should be kept in mind in the differential diagnosis of severe microcephaly, accompanied by fetal growth restriction. 3D ultrasound is a useful adjuvant to routine 2D sonography for prenatal diagnosis of the syndrome and can delineate abnormal fetal head appearance (a bird-headed profile). [ABSTRACT FROM AUTHOR]

Objective: We aimed with this study to evaluate the role of pulmonary artery acceleration time to ejection time ratio (PATET) in the prediction of respiratory distress syndrome (RDS) in preterm neonates.Materials and Methods: In this prospective cohort study, 105 singleton pregnant women with no congenital abnormalities and pregnancy complications who delivered before 37 weeks of gestational age were included. All the patients underwent ultrasound examination to obtain fetal pulmonary artery Doppler. 15 patients were excluded from the study as they did not give birth within 3 days subsequent to ultrasound examination, or inadequate Doppler measurements. After delivery the neonates were grouped according to diagnosis of RDS as RDS + and RDS-.Results: One hundred five women met the inclusion criteria. Regarding the Doppler findings; only the PATET ratio was significantly different between the groups (0.2965 ± 0.042 versus 0.386 ± 0.068 p < .001, Z = -5.206). There was an inverse correlation between the diagnosis of RDS in the neonates and the PATET values, even after adjusted for gestational age estimated fetal weight and fetal gender (r = -0.52 and p = .0017). A cut-off value of 0.327 provided optimal specificity of 77.1%, a sensitivity of 90.9%, a negative predictive value of 95.4%, and a positive predictive value 52.7%.Conclusions: In consideration of these results fetal PATET ratio is a promising noninvasive tool to predict RDS in cases of preterm deliveries. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the accuracy of prenatal neurosonography in diagnosing underlying causes of fetal ventriculomegaly, posterior fossa anomalies and microcephaly before 24 weeks' gestational age (GA) and to study the accuracy of prenatal counseling on postnatal prognosis.Methods: A retrospective cohort study based on 146 cases of these fetal brain anomalies before 24 weeks' GA. Counseling on prognosis was compared with postnatal outcome. Data on genetic testing was analyzed.Results: Out of 146 cases, 135 (92%) were diagnosed correctly before 24 weeks' GA. Accuracy was 98% (97/99) in cases with multiple anomalies and 81% (38/47) in cases with an isolated abnormality. Counseling on prognosis was correct in 143 out of 146 cases (98%). Prenatal genetic diagnostics detected an anomaly in 51/113 (45%) of cases. In 14/62 (23%) cases prenatal karyotyping was normal, but postnatal array-CGH detected a pathogenic anomaly.Conclusions: Despite the challenges of early gestation, accuracy in diagnosing and counseling fetal brain anomalies before 24 weeks' GA was high. Prenatal genetic testing is a valuable diagnostic tool and should be offered to all women with fetal brain anomalies. Considering the many different types of anomalies and diverse etiologies, a multidisciplinary approach is essential for counseling on postnatal outcome. [ABSTRACT FROM AUTHOR]

Objective: We examined whether first trimester aneuploidy and pre-eclampsia screening markers predict gestational diabetes mellitus (GDM) in a large multi-ethnic cohort and the influence of local population characteristics on markers.Methods: Clinical and first trimester markers (mean arterial pressure (MAP), uterine artery pulsatility index (UtA PI), pregnancy associated plasma protein A (PAPP-A), free-β human chorionic gonadotropin (free-hCGβ)) were measured in a case-control study of 980 women (248 with GDM, 732 controls) at 11 to 13 + 6 weeks' gestation. Clinical parameters, MAP-, UtA PI-, PAPP-A-, and free-hCGβ-multiples-of-the-median (MoM) were compared between GDM and controls; stratified by ethnicity, parity, and GDM diagnosis <24 versus ≥24 weeks' gestation. GDM model screening performance was evaluated using AUROC.Results: PAPP-A- and UtA PI-MoM were significantly lower in GDM versus controls (median ((IQR) PAPP-A-MoM 0.81 (0.58-1.20) versus 1.00 (0.70-1.46); UtA PI-MoM 1.01 (0.82-1.21) versus 1.05 (0.84-1.29); p < .05). Previous GDM, family history of diabetes, south/east Asian ethnicity, parity, BMI, MAP, UtA PI, and PAPP-A were significant predictors in multivariate analysis (p < .05). The AUC for a model based on clinical parameters was 0.88 (95%CI 0.85-0.92), increasing to 0.90 (95%CI 0.87-0.92) with first trimester markers combined. The combined model best predicted GDM <24 weeks' gestation (AUC 0.96 (95%CI 0.94-0.98)).Conclusions: Addition of aneuploidy and pre-eclampsia markers is cost-effective and enhances early GDM detection, accurately identifying early GDM, a high-risk cohort requiring early detection, and intervention. Ethnicity and parity modified marker association with GDM, suggesting differences in pathophysiology and vascular risk. [ABSTRACT FROM AUTHOR]

Purpose: We present the results of the systematic application of the first trimester combined test for aneuploidies, in a Romanian center.Methods: Since October 2009, in Filantropia Hospital in Bucharest, we have systematically been using the FMF (Fetal Medicine Foundation) combined first trimester test to screen for common aneuploidies at 11 to 13 + 6 weeks of gestation. We assessed the crown to rump length (CRL), nuchal translucency, fetal heart rate as well as PAPP-A, and free β-hCG in maternal serum. We evaluated additional first trimester ultrasound markers in most of the cases. The individual risk for aneuploidies was calculated using the FMF algorithm.Results: Pregnancy outcome is known for 6030 euploid fetuses and 42 aneuploid fetuses from our screening population. The detection rate for trisomy 21 of the combined test was 87.5% for a screen positive rate of 1.96%. All of the trisomy 18 and trisomy 13 cases were detected prenatally. Some of the trisomy 18 cases proved not to be symptomatic in the first trimester.Conclusions: Our results are similar to those of the main studies on the FMF method of first trimester screening for aneuploidies. Our numbers are small because of limited availability of the very specialized resources involved. [ABSTRACT FROM AUTHOR]

Purpose: The dilation of the fetal cerebral veins is a rare phenomenon that may be associated to a bad obstetric outcome, and is usually connected to antenatal thrombosis of the posterior dural venous sinuses. There are several descriptions of cerebral vein distension on magnetic resonance imaging (MRI), but all of them are detected postnatally. We present herein two cases of fetal antenatal cerebral dilation of the venous system, without any association to any sign of vein thrombosis, and a systematic review of literature regarding pathogenesis, diagnosis and outcomes associated to the antenatal detection of this condition with the use of MRI.Materials and Methods: To identify potentially eligible studies, we searched PubMed, Scopus, Cochrane Library (all from inception to October 20th, 2016) and applied no language restrictions.Results: The electronic database search provided a total of 22,843 results. After the exclusion of duplicates, manuscripts that resulted not relevant to the review based on title and abstract screening, and analysis of manuscripts eligible for full-text assessment, no papers were found related to the subject reported in the present manuscript.Conclusions: Our report adds importance to MRI as a tool in cases of complex ultrasound finding with the presence of fetal heart failure and deterioration of fetal growth, in order to improve the prognostic evaluation and patient?s counseling. [ABSTRACT FROM AUTHOR]

Background: Cardiac disproportion is considered as an indirect sign of coarctation of the aorta (CoA). In this review, we have reassessed the positive predictive value (PPV) of such finding for a postnatal confirmation of CoA.Data Sources: All cases of isolated cardiac disproportion diagnosed in the four-chamber and/or three-vessel/three-vessel and trachea views (right/left sections >1.5) were included. Postnatal cardiac findings were recorded. Additionally, a systematic literature search (PubMed, EMBASE, Cochrane library, and the reference lists of identified articles) regarding the association between antenatally detected cardiac disproportion and postnatal confirmation of CoA was performed. Data from our center were pooled with those derived from the literature.Results: Ten fetuses with isolated cardiac disproportion were selected from our center and 259 from the literature review. CoA was postnatally confirmed in 101/269 (PPV 38%). PPV of antenatal cardiac findings was significantly higher in earlier gestation (23/27, 85% <26+0 weeks versus 11/39, 28%≥26+0 weeks, p < .001). No significant difference was noticed comparing ventricular disproportion with combined ventricular and great vessels disproportion (86/230 versus 15/39, p  .89).Discussion: Isolated cardiac disproportion has an overall chance of one in three of heralding a CoA in the neonate. The specificity of these findings is significantly higher in the second trimester. [ABSTRACT FROM AUTHOR]

Aim: Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period.Materials and Methods: We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period.Results: We identified 123 cases. The median age at diagnosis was 25 GA (14-38 weeks GA). Eighty patients had 128 associated congenital anomalies. The congenital abnormalities most frequently associated with antenatal diagnosis of CPSS were congenital cardiac disease (30 cases), intrauterine growth restriction (21 cases), vascular anomalies (14 cases), and trisomy 21 (7 cases). Seventy-five complications were reported in the literature. The most frequent were antenatal hemodynamic abnormalities (27 cases), neonatal cholestasis (11 cases), and hyperammonemia (10 cases). Twenty-nine patients had no complications. The choice of treatment was conservative in 29/56 cases, interventional radiology in 15 cases and surgery in 15 cases (three of the latter after failure of embolization).Conclusion: From this review, we propose an algorithm for the perinatal management of this congenital abnormality. [ABSTRACT FROM AUTHOR]

Purpose: One of the greatest challenges with the finding of adducted thumbs in the prenatal setting is the determination of whether this finding is associated with an underlying genetic syndrome. The aim of the present study is to describe the characteristics and outcome of prenatal sonographic diagnosis of adducted thumbs.Methods: A retrospective study was conducted over a period of 17 years in a tertiary referral center. All fetuses diagnosed prenatally with adducted thumbs comprised the study group. Prenatal sonographic assessment and neonatal outcome are presented.Results: Six fetuses were evaluated for adducted thumbs over the 17-year period. In three cases, the parents elected termination of pregnancy for severe associated anomalies. In one case partial resolution was observed during the third trimester. Of the remaining two fetuses, one had a single umbilical artery and in the second the adducted thumbs were an isolated finding. Post-natal evaluation in both cases revealed bilateral adducted thumbs. Apart from orthopedic follow up no further interventions were needed.Conclusions: Prenatal diagnosis of adducted thumbs should be followed by a meticulous fetal ultrasound examination combined with genetic counseling. According to our cohort, if associated anomalies are excluded, isolated cases seem to have a favorable diagnosis. [ABSTRACT FROM AUTHOR]

Aim: Identify structural anomalies and adverse pregnancy outcomes accompanying single umbilical artery (SUA) and persistent right umbilical vein (PRUV) and to investigate whether SUA and PRUV are associated with chromosomal abnormalities and if these defects warrant invasive antenatal diagnosis.Methods: We retrospectively analyzed pregnancies with an antenatal diagnosis of SUA/PRUV from the International Peace Maternity and Child Health Hospital (IPMCHH) database. Data of structural malformations, fetal karyotyping, and pregnancy outcomes were analyzed.Results: Results revealed that 13.9 and 7% of SUA and PRUV cases, respectively, had malformations. Furthermore, 60% of the malformations accompanying SUA were isolated congenital heart disease (CHD), and 50% of the malformations accompanying PRUV were multiple malformations including CHD. All primarily diagnosed isolated PRUV (iPRUV) cases and 92.6% of primarily diagnosed iSUA cases had normal fetal echocardiography. Cases of iSUA and iPRUV with indications of invasive antenatal diagnosis showed no chromosomal abnormalities. The emergency cesarean section rate did not differ between the study population and the IPMCHH general population (p = .184).Conclusion: Patients of SUA and PRUV diagnosed in secondary hospitals should be referred to tertiary medical center for further ultrasonography. SUA and PRUV are not indicators for invasive antenatal diagnosis and selective cesarean section. [ABSTRACT FROM AUTHOR]

Objective: The brainstem-vermis angle (BVA) and the brainstem-tentorium angle (BTA) have been proposed to quantify vermian and tentorial alterations associated to fetal posterior fossa malformations. Our objective is to evaluate the intra- and inter-observer agreement for the measurement of these angles during the prenatal ultrasound scan.Methods: Fifteen 3 D sets from fetuses with posterior fossa pathology were processed by multiplanar navigation. Four experts in prenatal ultrasound measured the BVA and the BTA on a mid-sagittal view of the fetal brain, following the criteria described by Volpe. Observer 1 did also repeated measurements following both the criteria by Volpe and Ghi. The intraclass correlation coefficient (ICC) was used to test consistency and absolute agreement for intra- and inter-observer measurements. The concordance is poor when ICC <0.40 and excellent when ICC >0.75.Results: Consistency ICC for measurements between the 4 observers was 0.74 (95% CI: 0.54-0.89) for the BVA and 0.55 (95% CI: 0.29-0.78) for the BTA. Absolute agreement ICC was 0.67 (BVA) and 0.45 (BTA). The intra-observer study showed a significantly greater angle with the criteria by Ghi (mean 52.1°, 95% CI: 49.5-54.8) than with the criteria by Volpe (mean 37.4°, 95% CI: 33.1-41.6).Conclusions: A more precise methodology for the measurement of these angles should be described. [ABSTRACT FROM AUTHOR]

Objective: Fetal intraabdominal vein varix (FIUVV) is a sonographic finding with unknown prevalence. We aimed to point out this particular abnormality and review possible associations and complications which may arise.Method: We performed an unrestricted literature search via PubMed and included all cases diagnosed with FIUVV.Case Presentation: A 24-year-old, gravida 1 para 0 woman was referred to our clinic with possible diagnosis of FIUVV. We confirmed the diagnosis and detailed sonogram was normal. Beyond the gestational age of 32 weeks, intruterine growth restriction became evident. Close fetal surveillance was performed. We did not detect any thrombus formation within the varix or signs of cardiac decompansation during these visits. Delivery was planned after completion of 37 weeks. A healthy baby weighing 2100 g was delivered and discharged without any complications.Conclusion: It is generally accepted that fetal anatomic survey is necessary after detection of FIUVV. Karyotyping could be performed for those cases associated with additional structural malformations. Close surveillance of fetal well being and growth is important. Possibility of thrombus formation within the varix should be kept in mind. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the predictive factors of urgent cesarean delivery (CD) due to acute intrapartum non-reassuring fetal status (NRFS) in infants with congenital heart defects (CHDs).Study Design: This was a retrospective review of 199 singletons prenatally diagnosed with a CHD and for whom vaginal delivery was attempted in our institution between 2007 and 2014. A cardiovascular profile (CVP) score was used to assess fetal heart failure.Results: The number of urgent CDs due to NRFS was 37 (18.6%). Fetuses with a CVP score ≤7 were significantly more likely to require urgent CD due to NRFS than those with a CVP score ≥8 (p < 0.001). Infants with right heart defects or biventricular cyanotic heart defects had a significantly higher frequency of urgent CD due to NRFS than those with other types of CHD (p = 0.017). Multivariate analysis showed that a CVP score ≤7, a birth weight <2500 g, and primipara status were significant predictors of urgent CD due to NRFS.Conclusions: Fetal heart failure, low birth weight, and primipara status were revealed to be independent predictors of urgent CD due to acute intrapartum NRFS in CHD infants. The CVP score may be a useful echocardiographic marker in perinatal management planning. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the relationship between maternal copeptin levels and uterine artery Doppler examination and progress of preeclampsia.Materials and Methods: A cross-sectional study was designed with women those were screened at 20 + 0 - 24+  6 weeks' gestation between May 2014 and August 2014. The obstetric records of all normotensive women were examined. Uterine artery Doppler velocimetry results and serum copeptin levels were measured. The patients were divided into two groups according to normal (n = 67) and abnormal uterine artery Doppler (n = 21) findings.Results: Maternal age was significantly lower in group 1 (n = 21, 23.9%) than in group 2 (n= 67, 76.1%) (p < 0.05). We found no differences in maternal characteristics, birth weight, gestational age at delivery and copeptin levels between the two groups. Maternal serum copeptin levels were higher in women who subsequently developed preeclampsia. There was also a significant correlation between copeptin levels and the presence of preeclampsia. (p = 0.002).Conclusions: Copeptin levels are significantly higher in patients who develop preeclampsia. [ABSTRACT FROM AUTHOR]

Purpose: To determine if sonographic variables, including fetal femur length to abdominal circumference (FL/AC) ratio, are associated with shoulder dystocia in women with gestational diabetes.Methods: This was a retrospective cohort study of women with gestational diabetes who delivered singleton infants at Parkland Hospital from 1997 to 2015. Diagnosis and treatment of gestational diabetes were uniform including sonography at 32-36 weeks. Biometric calculations were evaluated for correlation with shoulder dystocia.Results: During the study period, 6952 women with gestational diabetes underwent a sonogram at a mean gestation of 34.8 ± 1.8 weeks. Of 4183 vaginal deliveries, 66 experienced shoulder dystocia (16/1000). The FL/AC was associated with shoulder dystocia (p < 0.001) with an AUC of 0.70 (95% CI: 0.64-0.77). This was similar to age-adjusted AC and head circumference to AC ratio (HC/AC) (both with an AUC of 0.72). All other measurements, including estimated fetal weight, were inferior. When examining the 257 women with multiple sonograms after 32 weeks' gestation, FL/AC was stable with advancing gestational age (p = 0.54) whereas age-adjusted AC and HC/AC were not (p < 0.001).Conclusions: The FL/AC is associated with shoulder dystocia in women with gestational diabetes. Additionally, it is a simple ratio that is independent of the reference used and remains stable, unlike age-adjusted AC and HC/AC ratio. [ABSTRACT FROM AUTHOR]

Objective: To assess the reliability of the interpretation of a new technique for the ultrasound evaluation of the level of neurological lesion in fetuses with myelomeningocele.Methods: Observational study including myelomeningocele fetuses, referred to our center for the sonographic assessment of the fetal lower-limb movements, made and recorded by an expert in Maternal-fetal medicine and a specialist in Rehabilitation. Two observers, with different levels of expertise and blinded to each other's results, interpreted each recorded scan two different times. The agreement for the segmental levels assigned between the observers and the gold standard, the inter-observer and intra-observer reproducibility were tested using the weighed Kappa (wκ) index.Results: Twenty-eight scans were recorded and evaluated. The agreement between the observers and the gold standard remained constant for the expert observer (wκ = 0.82) and increased (wκ = 0.66-wκ = 0.72) for the other one. The inter-observer and the intra-observer variability for the expert observer were wκ = 0.72 and wκ = 0.94, respectively.Discussion: The agreement for the prenatal evaluation of the segmental neurological level was excellent, after a short training period, for observers with different degrees of expertise. The interpretation of this technique is reproducible enough and this supports its value for the prediction of postnatal motor function in myelomeningocele fetuses. [ABSTRACT FROM AUTHOR]

Objective: The study aims to evaluate the accuracy of combining uterine artery Doppler (UAD), PlGF and sFlt-1 in the first trimester for preeclampsia screening.Methods: Prospectively enrolled women at high risk of preeclampsia were included. Transabdominal UAD measurements and serum biomarkers were collected between 11 and 13 weeks of gestation in three university hospitals and in one general hospital. The main outcome was preeclampsia. UAD parameters and biomarker levels among women with preeclampsia were compared with those of women in the unaffected group in univariate and multivariate analyses.Results: Out of 226 women included from May 2007 to January 2011, 27 (11.9%) women developed preeclampsia. Among women affected by preeclampsia, the lowest pulsatility index was higher (p = 0.02), bilateral notching was more frequent (p = 0.01), and PlGF was lower (p < 0.001). No significant differences were observed for other indicators. The multivariate model, adjusted for laboratory and sonographic indicators, had an area under the curve (AUC) estimated at 0.76, which was not significantly different from the AUC of the univariate model adjusted only for PlGF (p = 0.7).Conclusion: In a high-risk population, PlGF in the first trimester is useful for predicting preeclampsia, but neither sFlt-1 nor any UAD indices improved the prediction of preeclampsia. [ABSTRACT FROM AUTHOR]

Objectives: To describe a case diagnosed with intracranial teratoma in week 32 of gestation, as well as review of the literature in order to discern the appropriate treatment method and general prognosis of this anomaly.Methods: A literature search was performed on the prenatal diagnosis of congenital intracranial teratomas in MEDLINE, EMBASE, Cochrane library data bases. Evaluated in this review are parameters such as time of prenatal diagnosis, associated pathology, size of tumors, method of terminating pregnancy, perinatal outcome and histological study of the tumor.Results: A total of 49 cases were found, of which 12 were finished gestation, 28 cesarean section was performed and only nine had vaginal delivery. All died in the neonatal period except in three cases with intrauterine death after diagnosis.Conclusion: As the incidence of intracranial immature teratomas is very low and the prognosis is poor, their prenatal diagnosis and obstetric management present a great challenge for the planning of a follow-up and treatment of the disease in accordance with the preferences of the parents. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate clinical use of NIPT at gestational ages of 23 weeks and above.Methods: A cohort of 5579 clinical patients with singleton gestations of 23 weeks or greater submitting a blood sample for NIPT in an 18-month period were selected for this study. Clinical outcomes were requested for samples with NIPT results indicating fetal aneuploidy and compared with NIPT findings to confirm concordance or discordance.Results: A review of clinical indications revealed that a significantly (p < 0.0001) larger proportion of late-gestation samples indicated abnormal ultrasound findings with or without other indications, 6.2% and 42.1%, compared with early-gestation samples, 1.8% and 6.0%, respectively. Of 5372 reported late-gestation samples, 151 (2.8%) were reported as aneuploidy detected or suspected. In late-gestation samples, the overall observed positive predictive value (PPV) for NIPT was 64.7%, with an observed PPV of 100% in the subset of cases with multiple clinical indications including abnormal ultrasound findings.Conclusions: NIPT is a highly accurate prenatal screening option for women after 23 weeks of gestation. Women who presented for NIPT in the latter stages of pregnancy more frequently specified clinical indications of abnormal ultrasound findings than women who entered screening earlier in pregnancy. [ABSTRACT FROM AUTHOR]

Objective: Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis.Methods: We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis.Results: The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly.Conclusion: This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought. [ABSTRACT FROM AUTHOR]

Objectives: Respiratory morbidity in congenital diaphragmatic hernia (CDH) is associated with high mortality and adverse outcome. Accurate prenatal diagnosis is essential for prognosis and potential treatment in utero. The aim was to evaluate the prenatal ultrasound findings in assessing the respiratory prognosis in fetuses with isolated left-sided CDH.Methods: We retrospectively analyzed the medical records of 59 prenatally diagnosed left-sided CDH cases managed at a tertiary perinatal center.Results: Survival rate in the study group was 73% (43/59). We found no statistically significant relationship between survival and the presence of polyhydramnios, gestational age at diagnosis, lung-to-head ratio (LHR) and observed/expected LHR (O/E LHR) values, gestational age at birth and birth weight. Intrathoracic liver herniation was a statistically significant parameter adversely affecting survival (37.2% in survivors, 68.8% in non-survivors, p = 0.031) and logistic regression confirmed this relationship. The presence of pneumothorax and severe pulmonary hypertension were significantly associated with mortality (82% non-survivors versus 15% in survivors, p = 0.0001).Conclusion: Intrathoracic liver herniation seems to be a reliable parameter in the prediction of survival and neonatal respiratory morbidity in fetuses with isolated left-sided CDH. In contrast, we found no significant correlation between perinatal outcome and LHR, O/E LHR values, birth weight and gestational age. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the correlation between different degrees of bowel intraluminal echogenicity showed by prenatal ultrasounds and the anatomic level of intestinal atresia.Methods: We report three cases of intestinal atresia at different intestinal levels verified during the neonatal surgery with specific ultrasonographic prenatal features. Intensity of sonolucency was analyzed using the image-processing program ImageJ for quantitative measurements based on the gray-scale intensity values.Results: A total of three cases are reported, a jejunal, an ileal and a colonic atresia. All cases showed intestinal dilatation. Both, jejunal and ileal atresia, showed two degrees of hypoechoic intestinal content, while colonic atresia showed hyperechogenic content dilated loop at prenatal ultrasound scan.Conclusions: We propose the use of prenatal ultrasounds echogenicity of intestinal dilated loop fluid content to help in determining the level of obstruction in bowel atresia. These are initial results, to be confirmed by a multicentric research with more cases. [ABSTRACT FROM AUTHOR]

Objective: The prenatal detection rate of isolated fetal limb abnormalities ranges from 4 to 29.5%. Our aim was to determine the accuracy of a detailed ultrasound protocol in detecting isolated fetal limb abnormalities Methods: This is a retrospective study of infants born at our institution with isolated limb defects from 2009 to 2014. Antepartum and postpartum records were reviewed for genetic testing results. We routinely image both upper and lower extremities, including all long bones, hands, feet, fingers and toes. Posturing, muscular tone and movement are also noted.Results: During the study period, there were 52 neonates born with isolated fetal limb abnormalities who had received a fetal anatomic survey in our ultrasound unit and 15 930 sonograms performed with normal findings; 36 out of the 52 had been prenatally diagnosed (detection rate 69%). The specificity of the protocol was 100% as there were no false positive cases, the positive predictive value was 100% and negative predictive value 99.8%. Forty-three of 52 neonates had normal genetic testing either prenatally or postnatally; 9 neonates did not undergo genetic testing. The average additional time required for this detailed protocol was <5 min for second trimester sonogram.Conclusion: A minimal investment in time for detailed evaluation of fetal limbs more than doubles the previously reported prenatal detection rate. [ABSTRACT FROM AUTHOR]

Objective: To evaluate prenatal predictors of postnatal survival in fetuses with agenesis of ductus venosus (ADV).Methods: This retrospective study reviewed our experience and the literature between 1991 and 2015. Prenatal findings were evaluated and perinatal morbidity and mortality was documented.Results: A total of 259 cases were included in the present analysis from our centers and 49 published studies (15 patients from our retrospective cohort review and 244 from literature review). The intrahepatic and extrahepatic shunts were present in 32.0% (73/226) and 67.7% (153/226), respectively. Cardiomegaly (n = 64/259, 24.7%), hydrops (n = 31/259, 12.0%) and amniotic fluid abnormalities (n = 22/259, 8.5%) were among the most frequent initial ultrasound findings. One hundred and forty-seven fetuses (56.8%) had ADV without structural anomalies while 112 (43.2%) had associated anomalies (cardiac anomalies (n = 66), extra-cardiac anomalies (n = 19) and both cardiac and extra-cardiac anomalies (n = 27)). The mean gestational age (GA) at ultrasound diagnosis was 22.9 ± 6.9 weeks while the mean GA at delivery was 34 ± 7.5 weeks. The overall neonatal survival was 57.1% (n = 148/259). The following factors were associated with survival: advanced maternal age, earlier GA at diagnosis, prematurity, increased nuchal translucency, pericardial effusion, associated cardiac defects (especially AVSD), chromosomal abnormalities, hydrops, hygroma and limb anomalies.Conclusion: Fetal hydrops, the presence of associated congenital anomalies and premature delivery are associated with poor prognosis in fetuses with ADV. [ABSTRACT FROM AUTHOR]