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Introduction: A critical component of an evidence-based reassessment of in-utero intervention for fetal aqueductal stenosis (fetal AS) is determining if the prenatal diagnosis can be accurately made at a gestational age amenable to in-utero intervention. Methods: A multicenter, prospective, observational study was conducted through the North American Fetal Therapy Network (NAFTNet). Pregnancies complicated by severe central nervous system (CNS) ventriculomegaly (lateral ventricle diameter >15 mm) not secondary to a primary diagnosis (myelomeningocele, encephalocele, etc.) were recruited at diagnosis. Imaging and laboratory findings were recorded in an online REDCap database. After evaluation, investigators were asked to render their degree of confidence in the diagnosis of fetal AS. The prenatal diagnosis was compared to the postnatal diagnosis obtained through neonatal neuroimaging. Performance characteristics of ultrasound and magnetic resonance imaging (MRI) were calculated, as was the mean gestational age at diagnosis. Results: Between April 2015 and October 2022, eleven NAFTNet centers contributed 64 subjects with severe fetal CNS ventriculomegaly. Of these, 56 had both prenatal and postnatal diagnoses recorded. Ultrasound revealed 32 fetal AS true positives, 4 false positives, 7 false negatives, and 13 true negatives, rendering a sensitivity of 0.82, a specificity of 0.76, a positive predictive value of 0.89, and a negative predictive value of 0.65. The mean gestational age at diagnosis by ultrasound was 25.5 weeks (std +/− 4.7 weeks). The proportion of agreement (true positive + true negative/n) was highest at 24 weeks gestation. For fetal MRI (n = 35), the sensitivity for fetal AS was 0.95, specificity was 0.69, positive predictive value was 0.84, and negative predictive value was 0.90. MRI was performed at 25 weeks on average. Conclusion: The prenatal diagnosis of fetal AS can be made with accuracy at a gestational age potentially amenable to in-utero intervention. Only 7% of subjects were incorrectly diagnosed prenatally with fetal AS by ultrasound and 11% by MRI. Diagnostic accuracy of fetal AS will likely improve with increased experience. [ABSTRACT FROM AUTHOR]

Introduction: There is a paucity of reports describing the clinical course and likely postnatal outcomes of prenatally identified simple cystic abdominopelvic lesions which are not associated with the ovary.Objective: The aim of this study was to describe the natural history and postnatal outcomes of prenatally discovered abdominopelvic cystic lesions seen at our center.Methods: This study is a retrospective review of all newborns with prenatally discovered non-ovarian simple cystic abdominal or pelvic lesions (September 2012-December 2018). Prenatal solid organ involvement, lesion size, and postnatal clinical outcomes are described.Results: Sixty-six patients with 68 cystic lesions were identified; 22 patients with 24 lesions met the defined study criteria and were included. Eleven (46%) resolved prenatally, while 5 (21%) resolved by 18 months of age. Of the 10 lesions associated with an organ, 4 (40%) resolved prenatally. Of the remaining 14 lesions not associated with a solid organ, 7 (50%) resolved prenatally. Seven lesions (29%) required postnatal surgical intervention. Larger maximum prenatal lesions tended toward postnatal surgical intervention (one-way ANOVA: p = 0.072).Conclusions: The majority of simple non-ovarian cystic abdominopelvic lesions at our center resolved in the perinatal period. Due to the low frequency of these lesions at fetal centers, a larger multicenter study based on a consistent monitoring protocol should be undertaken to better describe the resolution patterns of simple non-ovarian cystic lesions for improved prenatal counseling. [ABSTRACT FROM AUTHOR]

Objective: To introduce visualization of the germinal matrix (GM), external angle of the frontal horn, and periventricular white matter while evaluating the anterior complex (AC) during basic ultrasound assessment of the fetal brain.Case Presentations: This is a retrospective observational study of healthy women with singleton pregnancies, with no increased risk of fetal central nervous system anomalies, attending routine ultrasound screening at 20-32 weeks' gestation. Seventeen cases are presented in which an abnormal aspect of the GM or external angle of the frontal horn or periventricular white matter on AC evaluation has allowed a prenatal diagnosis of peri-intraventricular hemorrhage, subependymal cysts, connatal cysts, periventricular venous hemorrhagic infarction, and white matter injury.Conclusion: An extended AC evaluation could significantly improve the -diagnosis of hemorrhagic/cystic/hypoxic-ischemic lesions during the performance of a basic ultrasound study of the fetal brain. [ABSTRACT FROM AUTHOR]

Objective: To assess whether the cisterna magna (CM) width measured in first-trimester fetuses is a useful marker for aneuploidy detection.Methods: This was a prospective study in 2 different cohorts in a tertiary referral center. The first cohort comprised 913 fetuses from the general pregnancy population during the period 2012-2016 and was used to construct the CM reference ranges applying the λ-μ-σ (LMS) method. The second cohort included 714 high-risk fetuses undergoing chorionic villus sampling during the period 2012-2016. Mean detection rates using the 95th percentile for CM width observed in chromosomal anomaly groups were compared with those obtained in chromosomally normal fetuses.Results: The 50th percentile for CM ranged from 1.66 to 2.75 mm when crown-rump length (CRL) increased from 45 to 84 mm. Among high-risk fetuses, the following chromosomal anomalies were diagnosed in 125 (17%) fetuses: trisomy 21 (n = 63), trisomy 18 or 13 (n = 21), monosomy X (n = 9), submicroscopic anomalies (n = 11), and other anomalies (n = 22). The mean CM width for euploid fetuses was 2.4 mm (1.13 multiples of the median, MoM). While CM width was significantly increased in trisomy 21 (mean 2.7 mm; 1.23 MoM; p > 0.05), no differences were found in the other anomaly groups. Among the 63 fetuses with trisomy 21, a CM width above the 99th percentile was observed in 23 fetuses (37%).Conclusions: The new reference range for CM width at 11-13 weeks of gestation did not differ from previous studies. In first-trimester fetuses with trisomy 21, CM width appears to be increased, although its value as an ultrasound marker is limited, because of its detection rate of 37%. [ABSTRACT FROM AUTHOR]

Background: The examination of the fetal ear is a promising but still challenging approach in prenatal diagnosis. Objectives: This study investigated a novel ear length/width ratio based on anatomical landmarks. Additionally, we compared different 3D ultrasound surface rendering modes regarding their potential to depict detailed structures of the outer ear. Method: We measured both the ear length and width of 118 fetal ears from 20 to 40 weeks of gestation to establish a length/width ratio. Additionally, we rendered the volumes in three different surface display modes and one adapted light position. Each image was scored regarding the visibility of distinct structures of the ear relief and indicator scores were evaluated for each mode. Results: The median of the length/width ratio was 1.9 with a slight decline over the gestational period. The overall visibility of the ear structures differed noticeably between the four surface display modes (p < 0.001). The post hoc comparison showed that the display mode "TrueVue" resulted in the highest indicator scores. Conclusion: The length/width ratio based on anatomical landmarks of the ear could prospectively be used as a marker in syndrome detection. The study showed a superiority of the surface display mode "TrueVue" for examination of the detailed ear structures. [ABSTRACT FROM AUTHOR]

Objective: To emphasize the need for analyzing the pelvis when a unilateral multicystic dysplastic kidney (MCDK) is observed at prenatal ultrasonography (US) because of possible associated ectopic ureteral insertion.Methods: We performed a retrospective study including prenatal US diagnosis of unilateral MCDK and retrovesical cyst. The following data were recorded: pre- and postnatal US, magnetic resonance imaging (MRI), and voiding cystourethrography (VCUG) findings. The shape of the pelvic cyst was analyzed as well as the visibility of the ureteral insertion into the cyst.Results: Fourteen patients were included (7 females). At prenatal US, the cyst wall was smooth in 8 cases (6 females) and lobulated in 5 cases (4 males). In 1 case it protruded into the bladder. Ectopic ureteral insertion was observed in 2 cases. Prenatal MRI (n = 6) depicted ureteral insertion in 2 more cases. Postnatal US (n = 14) showed the same cyst patterns as prenatally, ectopic ureteral insertion (n = 8), and duplicated uterus (n = 4). Postnatal MRI (n = 7) always depicted the ureteral ectopic insertion into the cyst. VCUG (n = 5) showed indirect findings of ectopic ureteral insertion (n = 3).Conclusion: Unilateral MCDK should lead to search for a retrovesical cyst corresponding most commonly to a distended hemivagina or a seminal vesicle. Early diagnosis of this condition leads to better clinical management. [ABSTRACT FROM AUTHOR]

Objective: To establish which characteristics of fetal ultrasound screening lead to the diagnosis of posterior fossa (PF) anomalies.Methods: A total of 81 fetuses with PF anomalies diagnosed after dedicated neuroimaging between July 1, 2007, and January 1, 2013, were included. The ultrasound characteristics of the fetal cerebellum categorized according to an anatomical approach to the PF, associated fetal anomalies, gestational age at diagnosis, and the potential benefits from systematic measurement of the transverse cerebellar diameter (TCD) were analyzed.Results: Fifty fetuses (61.7%) presented with a PF malformation responsible for an increased "fluid-filled" space of the PF, 24 fetuses (29.6%) had a malformation associated with a decreased cerebellar biometry, 23 fetuses (28.4%) had an abnormal cerebellar anatomy and/or echogenicity, and 2 fetuses (2.4%) showed an isolated malformation of the brainstem. Forty-seven cases (58%) showed additional cerebral or extracerebral anomalies, which led to the diagnosis of PF anomaly in 55.3% of the cases. Isolated PF anomalies were associated with an increased "fluid-filled" space of the PF in 91.2% of the cases. Twenty-eight fetuses had a TCD measurement considered as pathological.Discussion: Examination of the transcerebellar plane during 2nd- and 3rd-trimester ultrasound screening combined with systematic measurement of the TCD would allow improving the detection of PF anomalies. [ABSTRACT FROM AUTHOR]

Objectives: To determine which 3-D techniques are most effective for "real time" prenatal ultrasound assessment of the corpus callosum and cerebellar vermis.Methods: A prospective study involving 100 consecutive normal singleton pregnancies attending routine anomaly scan at 19-23 weeks' gestation. Midsagittal structures of the fetal brain were assessed using six different methods of 3-D image acquisition and three post-processing techniques. The quality of the resulting images were then assessed and scored by a second operator. The significance of the difference between various techniques was assessed using the Friedman test.Results: The best method for visualization of both corpus callosum and cerebellar vermis in one image involved 3-D acquisition in a sagittal plane through the sagittal suture with manipulated 3-D OVIX™ (Oblique View eXtended Imaging) reconstruction. Five other methods scored closely and were not significantly different; all were based on 3-D acquisition in the sagittal plane through either sagittal suture or anterior fontanel.Conclusions: We have applied described techniques for 3-D central nervous system volume acquisition and have shown that the best method of assessment, allowing assessment of both the corpus callosum and the cerebellar vermis, involves midsagittal acquisition through the sagittal suture with 3-D OVIX reconstruction. This technique can be applied successfully in 83% of cases. [ABSTRACT FROM AUTHOR]

Introduction: Systematic analysis of the spine is recommended as part of the basic sonographic examination. The aim of our study is to assess the proportion of spinal cord anomalies diagnosed following detection of a sacral anomaly.Material and Methods: We analyzed retrospectively collected data in a prenatal tertiary center during a 9-year period. Patients were referred for second-line ultrasound in the context of diabetes mellitus or following detection of pelvic or lower spine anomalies. We included all cases of sacral anomalies with available postnatal or postmortem outcomes (imaging and/or pathologic data) and excluded all cases of open dysraphism (myelomeningocele).Results: Nineteen patients were included. The mean gestational age was 28 weeks (21-39). Sacral anomalies included 2 cases of complete agenesis, 12 cases of partial agenesis, 4 segmentation anomalies, and 1 case of abnormal angulation of the sacral spine. Fourteen associated spinal cord malformations included 8 tethered spinal cords, 5 truncated spinal cords, and 1 lipoma of the filum terminale. All anomalies were confirmed by postnatal or postmortem examinations.Conclusions: Sacral anomalies detected during basic sonographic examination represent an important warning sign for associated spinal cord anomalies, with possible poor neonatal outcome. [ABSTRACT FROM AUTHOR]

Objective: To describe a technique for the visualization and measurement of cerebral aqueduct diameter through a 2D sagittal median plane, and to report its aspect and measurement in fetuses with aqueductal stenosis (AS).Methods: This was a cross-sectional study of 207 morphologically normal fetuses in low-risk pregnancies between 20 and 36 weeks of gestation. The cerebral aqueduct was visualized transvaginally in a midsagittal plane, and measurements of its greatest diameter (ampulla) were taken independently by an expert and a nonexpert sonographer. In addition, the aqueduct morphology from 7 fetuses with AS and complete follow-up were compared to the reference range.Results: Aqueductal measurements were obtained in 206 of 207 normal fetuses. Aqueductal growth occurred linearly with gestational age. Our method demonstrated excellent interobserver reproducibility. Among the 7 fetuses with AS, the aqueductal lumen could not be identified in 6 and had a funneling aspect in 1.Discussion: Our study demonstrated that it is possible to visualize and measure the cerebral aqueduct directly through a 2D ultrasound median plane. In fetuses with severe ventriculomegaly, the morphology and width of this structure could represent a relevant tool in improving AS diagnosis, differentiating it from other causes of significant ventricular dilation that carry a different outcome. [ABSTRACT FROM AUTHOR]

Objectives: The aim of this study was to report the prenatal imaging findings of expanding porencephalic cyst, which have not been previously described in the prenatal period, and to underline that these lesions can involve the cerebellum and not exclusively the supratentorial structures.Materials and Methods: This is a retrospective observational study of five cases with a prenatal diagnosis of expanding porencephalic cyst.Results: The cystic lesion was located in the supra- and infratentorial space in 2 cases, respectively, or in both in one case. The lesion expanded into the pericerebral space or communicated with the ventricular system in 4 and 1 cases, respectively. Differential diagnosis included tumoural lesion in 2 cases because of internal echogenic components related to haemorrhagic changes, which were identified using foetal MRI, and arachnoid cyst in 2 cases because of expansion into the pericerebral space. In the last case, communication within the ventricular system mimicked a unilateral ventriculomegaly.Conclusion: Differential diagnosis of any cystic lesion with extra-axial component should include expanding porencephalic cyst. Foetal MRI is helpful to differentiate this entity from extra-axial lesions such as arachnoid cysts but also from rare tumours. [ABSTRACT FROM AUTHOR]

Objective: To determine the ultrasonographic characteristics of limited dorsal myeloschisis (LDM) at prenatal ultrasound (US) and to highlight the main features that may help differentiate LDM and myelomeningocele (MMC).Methods: In a tertiary reference center in fetal medicine, we prospectively collected the medical data and ultrasonographic characteristics of all patients referred for in utero prenatal repair of MMC between November 1, 2013 and April 30, 2015.Results: Among the 29 patients assessed, the diagnosis of MMC was revised in 7 cases. In 6 cases, the diagnosis of LDM was established. On US scan, LDM was characterized by a spinal saccular lesion with a thick peripheral lining in continuity with the adjacent skin. Within the saccular lesion, a thick hyperechoic well-delineated structure was present in continuity with the spinal cord. Cerebral structures were normal except for 2 cases showing a cisterna magna slightly decreased in size. In the remaining 22 cases MMC was confirmed, with cerebral anomalies present in 21/22 cases (95.5%).Conclusion: LDM is a form of closed dysraphism accessible to prenatal diagnosis by US that may mimic MMC. Considering the major difference in prognosis between these two entities, physicians should be aware of the existence and ultrasonographic characteristics of LDM. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the performance of Fetal Intelligent Navigation Echocardiography (FINE) applied to spatiotemporal image correlation (STIC) volume datasets of the normal fetal heart in generating standard fetal echocardiography views.Methods: In this prospective cohort study of patients with normal fetal hearts (19-30 gestational weeks), one or more STIC volume datasets were obtained of the apical four-chamber view. Each STIC volume successfully obtained was evaluated by STICLoop™ to determine its appropriateness before applying the FINE method. Visualization rates for standard fetal echocardiography views using diagnostic planes and/or Virtual Intelligent Sonographer Assistance (VIS-Assistance®) were calculated.Results: One or more STIC volumes (total n = 463) were obtained from 246 patients. A single STIC volume per patient was analyzed using the FINE method. In normal cases, FINE was able to generate nine fetal echocardiography views using: (1) diagnostic planes in 76-100% of the cases, (2) VIS-Assistance® in 96-100% of the cases, and (3) a combination of diagnostic planes and/or VIS-Assistance® in 96-100% of the cases.Conclusion: FINE applied to STIC volumes can successfully generate nine standard fetal echocardiography views in 96-100% of cases in the 2nd and 3rd trimesters. This suggests that the technology can be used as a method of screening for congenital heart disease. [ABSTRACT FROM AUTHOR]

Objectives: This study describes the prenatal diagnosis of body stalk anomaly (BSA) in a large series of affected pregnancies and proposes an algorithm for the differential diagnosis of abdominal wall defects in the first trimester. Methods: This was a retrospective study of all the cases of BSA diagnosed in our tertiary unit between 2009 and 2015. In all cases, we performed a detailed ultrasound examination with particular emphasis on the appearance of the amniotic membrane and content of the amniotic sac and the coelomic cavity. Results: The study included 17 cases of BSA (15 singleton pregnancies, one dichorionic-diamniotic twin pregnancy discordant for BSA and one case of conjoined twins) at a median gestational age of 12+3 (range 11+0 to 16+6) weeks. In all cases, the liver and bowel were herniated into the coelomic cavity and the amniotic sac was intact containing the rest of the fetus with a normal amount of amniotic fluid; additionally, there was severe kyphoscoliosis and positional abnormalities of the lower limbs. The umbilical cord was absent, but umbilical vessels were seen with color Doppler running from the placenta to the fetus marginally to the eviscerated abdominal content. Conclusion: BSA can be easily diagnosed from 11 weeks' gestation. Examination of the amniotic membrane continuity, content of both the amniotic sac and coelomic cavity and a short umbilical cord help in differentiating this condition from other abdominal wall defects. [ABSTRACT FROM AUTHOR]

The evaluation of the characteristics of the fetal stomach should be part of every routine prenatal ultrasound after 11 weeks. A position that has not been previously described in the literature is the stomach in contact with the bladder. We describe 6 cases with the ultrasonographic finding of the stomach in contact with the bladder, all of them in fetuses with left-sided congenital diaphragmatic hernia. Even though the reasons for this striking position of the stomach are not clear, our series highlights the fact that the visualization of the stomach in contact with the bladder may be a specific sonographic marker of congenital diaphragmatic hernia. [ABSTRACT FROM AUTHOR]

Introduction: The objective of the study was to establish the predictive value of prenatal ultrasound markers for complex gastroschisis (GS) in the first 10 days of life. Material and Methods: In this retrospective cohort study over 11 years (2000-2011) of 117 GS cases, the following prenatal ultrasound signs were analyzed at the last second- and third-trimester ultrasounds: intrauterine growth restriction, intra-abdominal bowel dilatation (IABD) adjusted for gestational age, extra-abdominal bowel dilatation (EABD) ≥25 mm, stomach dilatation, stomach herniation, perturbed mesenteric circulation, absence of bowel lumen and echogenic dilated bowel loops (EDBL). Results: Among 114 live births, 16 newborns had complex GS (14.0%). Death was seen in 16 cases (13.7%): 3 intrauterine fetal deaths, 9 complex GS and 4 simple GS. Second-trimester markers had limited predictive value. Third-trimester IABD, EABD, EDBL, absence of intestinal lumen and perturbed mesenteric circulation were statistically associated with complex GS and death. IABD was able to predict complex GS with a sensitivity of 50%, a specificity of 91%, a positive predictive value of 47% and a negative predictive value of 92%. Discussion: Third-trimester IABD adjusted for gestational age appears to be the prenatal ultrasound marker most strongly associated with adverse outcome in GS. [ABSTRACT FROM AUTHOR]

Background: Renal vein thrombosis (RVT) is a well-characterized condition among neonates; however, this complication is rarely diagnosed prenatally. Methods: In this report, we describe a fetus with unilateral RVT and summarize the literature regarding prenatal diagnostic criteria and postnatal prognosis. We searched the English, French and Spanish literature (MEDLINE, PubMed and EMBASE) for cases with prenatal diagnosis of RVT. Results: Including our case, a total of 23 fetuses with fetal RVT were reviewed in the present study. All cases were diagnosed in the third trimester, and the survival rate among these cases was 63%. Enlargement of the kidney was the most commonly associated initial ultrasound finding. The only ultrasound finding significantly associated with mortality was the presence of bilateral RVT. Discussion: The etiology of fetal RVT is still unclear. Considering the large number of cases with RVT that manifest in the first days of life, prenatal diagnosis of this condition has relevance. [ABSTRACT FROM AUTHOR]

Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally. [ABSTRACT FROM AUTHOR]

Objective: To assess the ability to identify the conus medullaris (CM) and measure the conus-sacrum distance (CS distance) on a routine scan and the relationship with maternal and fetal factors. Methods: This was a prospective study. The assessment of the CM and the CS distance and the influence of the body mass index (BMI), gestational age (GA) and fetal position were analyzed. The correlation between the femur length (FL) and the GA with the CS distance was evaluated. Results: A total of 696 fetuses were analyzed. The CM could be visualized in 82.3% of the cases, and the CS distance could be analyzed in 81.2% of the cases. The CM assessment was statistically associated with BMI and fetal position but not with GA. The CS distance assessment was statistically associated with BMI and GA but not with fetal position. We determined a significant association between the FL/CS distance and between the GA/CS distance. Conclusions: Assessment of the CM is possible on most routine scans. The CS distance could be introduced to routine scans for the assessment of prenatal skin-covered spinal dysraphism. High BMI, advanced GA and breech presentation could be potential factors limiting the feasibility of evaluating the CM. [ABSTRACT FROM AUTHOR]

Objective: In cases of nonvisualization of the fetal gallbladder (NVFGB), we investigated whether amniotic fluid levels of gamma-Glutamyl transpeptidase (GGTP) can distinguish normal development or benign gallbladder agenesis from severe anomaly such as biliary atresia.Methods: This is a retrospective cohort study of pregnancies in which the gallbladder was not visualized in the second-trimester fetal anatomy scan. Levels of GGTP in amniotic fluid were analyzed prior to 22 weeks of gestation by amniocentesis. Data were collected regarding other fetal malformations, fetal karyotype, and screening results for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations.Results: Of 32 cases of NVFGB, 27 (84%) had normal GGTP levels and a normal CFTR gene screening, and 1 of them had an abnormal karyotype. Three of the 5 cases with low GGTP were diagnosed with extrahepatic biliary atresia, proven by histopathological examination following termination of pregnancy. The fourth case had hepatic vasculature abnormality and the fifth isolated gallbladder agenesis. In 22 of 32 cases (68.7%), the gallbladder was detected either later in pregnancy or after delivery.Conclusion: The findings support low levels of GGTP in amniotic fluid, combined with NVFGB, as a sign of severe disease, mainly biliary atresia. Normal GGTP levels, concomitant with isolated NVFGB, carry a good prognosis. [ABSTRACT FROM AUTHOR]

Objectives: The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT).Methods: This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype.Results: The fetal karyotype was normal in 4,172 (78.6%) cases and abnormal in 1,134 (21.4%), including 1,009 with a likely clinically significant adverse outcome. Universal CVS with full karyotyping would lead to the diagnosis of all clinically significant abnormalities. A policy of relying solely on NIPT would have led to the diagnosis of 88.9% of clinically significant abnormalities. A strategy whereby NIPT is the main method, with CVS reserved for cases with NT ≥3.0 mm, would require CVS in 21.7% of cases, identify 94.8% of significant abnormalities and avoid miscarriage in 41 pregnancies compared to CVS for all.Conclusions: A policy of NIPT for increased-risk cases and CVS with full karyotype if the NT was ≥3.0 mm reduced the risk of miscarriage yet still identified 95% of clinically significant aneuploidy. [ABSTRACT FROM AUTHOR]

Congenital absence of aortic valve (AAV) is a rare cardiac anomaly associated with high mortality. We present 2 prenatally diagnosed cases of AAV. In both cases, fetal echocardiography showed no aortic valve tissue and free aortic regurgitation. At 24 weeks' gestation, case 1 showed a hypoplastic hypocontractile left ventricle and mitral atresia, but did not develop hydrops and was born at term. Bilateral pulmonary arterial banding was performed with continuous infusion of prostaglandin E1 at 5 days of age followed by Norwood and bidirectional Glenn procedures at 3 months of age. The hypoplastic non-compliant left ventricle and mitral atresia might have limited aortic regurgitation. Case 2 showed hydrops at 23 weeks' gestation. An enlarged hypocontractile left ventricle and massive mitral insufficiency were noted. The regurgitant flow was directed to the right atrium through a foramen ovale. This peculiar hemodynamic established a malignant circuit which was arbitrarily called 'inverse circulatory shunt'. Intrauterine death occurred at 28 weeks' gestation. An autopsy showed absent aortic valve leaflets but three tiny membranous remnants. Hemodynamic evaluation by fetal echocardiography should include the documentation of the presence of and assessment of the grade of aortic regurgitation, mitral regurgitation and blood flow through a foramen ovale as well as left ventricular function. [ABSTRACT FROM AUTHOR]

Introduction: Fetal cardiac dysfunction may manifest itself unilaterally as right and left ventricles differing in design, function and load, measurable as differing in myocardial performance indices (MPIs). We wished to define this difference ('delta-MPI' or DMPI), present its normal range and pilot its use in pathological pregnancy.Material and Methods: Prospective cross-sectional study of 324 normal singleton fetuses (16-38 weeks of gestation). Left and right modified MPI (LMPI and RMPI) were performed during a single examination using the 'peak' valve click technique. Thirty-seven pathological singleton and monochorionic diamniotic twin pregnancies were compared as pilot data.Results: Modified MPIs (mean ± SD) were 0.45 ± 0.06 (LMPI) and 0.47 ± 0.09 (RMPI), being similar at 18 weeks' gestation with DMPI increasing slightly throughout pregnancy (0.02 ± 0.08). Both singleton intrauterine growth restriction (IUGR) and recipient twin-twin transfusion syndrome (TTTS) showed significantly elevated RMPI, LMPI and DMPI, most pronounced for DMPI (450 and 500% increase, respectively; p < 0.01). DMPI acquisition rates were 83.3% normal and 87.0% pathological.Discussion: We demonstrate for the first time differing intrafetal LMPI and RMPI in a large gestational cohort, with this difference increasing with gestational age. Pilot data confirm the potential for DMPI as a tool to assess unilateral myocardial function in singleton IUGR and recipient twins in TTTS, and further studies are under way to evaluate its clinical utility. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to investigate the additional value of fetal magnetic resonance imaging (MRI) in the assessment and management of fetuses with abnormal findings on ultrasound.Methods: A total of 257 patients who had fetal MRI following the ultrasound diagnosis of a fetal anomaly, or were at high risk, were included. The patients were grouped by referral category for fetal MRI. Fetal MRI was compared to ultrasound in the detection of anomalies, i.e. whether additional findings were identified and if this changed diagnosis, prognosis and management during pregnancy.Results: Ultrasound findings were confirmed on fetal MRI in 89% of the cases. Additional findings were seen with MRI in 28% of all patients. The diagnosis changed in 21% and the prognosis in 19% of the cases. Perinatal management changed in 8%. The antenatal findings were confirmed in all cases that had a postmortem examination following termination of pregnancy. In all the pregnancies that continued to delivery and for which the postnatal outcome is known, the findings correlated in 97% of the cases.Conclusion: Fetal MRI provided additional detection of fetal anomalies, leading to a change in diagnosis and prognosis in 19% of the cases. Neonatal and postmortem findings mostly confirmed the fetal MRI diagnosis, suggesting it to be a useful tool for clinical decision making in perinatal management. [ABSTRACT FROM AUTHOR]

Introduction: To determine the cost-effectiveness of prenatal chromosomal microarray (CMA) when performed for structural anomalies on fetal ultrasound scan over conventional techniques. Method: A decision tree was populated using data from a prospective cohort of women undergoing testing when a fetal ultrasound scan showed a structural abnormality. Nine strategies of testing were modeled including combinations of the tests: QFPCR, G-band karyotyping, CMA and FISH for DiGeorge (22q) microdeletion. Results: When CMA costs GBP 405 and using a 1-Mb BAC array it would cost GBP 24,600 for every additional case detected by CMA over a combination of QFPCR, followed by G-band karyotype, followed lastly by FISH (for DiGeorge syndrome). If CMA is performed instead of conventional karyotyping alone it costs GBP 33,000 for every additional case detected. However, if the cost of CMA is reduced to GBP 360 than when CMA is performed instead of conventional karyotyping alone it would cost GBP 9,768 for every additional case detected. Discussion: The use of a prenatal BAC CMA is not currently cost-effective when compared to other testing strategies. However, as CMA costs decrease and resolution (and detection rates) increase it is likely to become the cost-effective option of the future. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Introduction: The aim of this study was to assess the effect of mild pressure applied on the abdominal wall by the ultrasound transducer on fetal cephalic indices. Material and Methods: We examined by ultrasound 60 fetuses of healthy women, at 20-24 weeks of pregnancy, during routine prenatal evaluation. For every fetus biparietal diameter and head circumference were measured, with and without applying mild pressure by the ultrasound transducer. The weight and gestational age (GA) were calculated. Results: The pressure applied by the transducer had a significant effect on the cephalic indices and on the weight and GA evaluations (p < 0.001). Fetal positioning significantly affected the impact that applied pressure had on head circumference and on the weight evaluation derived from it (p < 0.05). Discussion: Applied pressure by an abdominal ultrasound probe affects cephalic indices and the derived weight and GA estimations. This may lead to incorrect diagnoses or hide pathological findings. The effect of applied pressure depends on fetal positioning. The examiner must be aware of this effect when evaluating the results of the measurements. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: The purpose of this study was to prospectively evaluate our recently described fetal sonographic classification system for prenatal diagnosis of clubfoot. Methods: Over 18 months, we prospectively enrolled consecutive pregnant patients evaluated for a prenatally diagnosed clubfoot. Prenatal sonographic scores assigned by a radiologist were compared to final clinical diagnosis and severity given by a pediatric orthopedic surgeon. Pearson's χ2 test and logistic regression were used in statistical analyses on the subject level. Generalized estimating equations were used in analyses on the foot level to account for intrasubject correlation. Results: There were 50 subjects, with 26 unilateral and 24 bilateral clubfeet, according to the prenatal ultrasound (US). A total of 51 (69%) of 74 feet and 36 (72%) of 50 subjects had a postnatal diagnosis of clubfoot. The accuracy of diagnosis in cases of a severe, moderate, and mild US score was 94, 70, and 25%, respectively (p = 0.003 comparing moderate-severe vs. mild). US severity correlated with the Dimeglio classification scoring system (Spearman's correlation 0.30). Conclusion: The fetal sonographic scoring system is predictive of clinical severity after birth, and improves the ability to counsel families with a prenatal diagnosis of clubfoot. © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to determine the frequency of chromosomal anomalies among the fetuses with isolated and non-isolated aberrant right subclavian artery (ARSA), and to evaluate the sonographic findings associated with ARSA. Methods: This is a retrospective study conducted during the period between January 2008 and December 2012 at the maternal fetal medicine units of three different referral centers. Results: Among the 148 cases of ARSA, 98 were isolated and 50 were associated with cardiac anomalies, extracardiac malformations or soft markers. Trisomy 21 was the only chromosomal anomaly with a prevalence of 6.8% (10/148). The corresponding rate was 6.1% (6/98) and 8% (4/50) for isolated and non-isolated ARSA, respectively. Cardiac anomalies, extracardiac findings and soft markers were detected in 5.4% (8), 10.8% (16) and 24.3% (36) of cases, respectively. Among the 10 fetuses with trisomy 21, 6 were isolated, 4 were associated with soft markers, 2 were associated with fetal growth restriction and 1 was associated with hydrops fetalis. Cardiac anomalies were not observed in any of these fetuses. Conclusion: The prenatal diagnosis of ARSA should prompt meticulous anatomic survey, and karyotype analysis might be offered even in the absence of associated findings. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Ureteroceles are cystic dilations of the intravesical submucosal ureter. Most cases are associated with complete ureteral and renal duplication, and association with ureterohydronephrosis is frequent. The authors describe the 4 cases of fetal ureterocele diagnosed from March 2008 to March 2012. Mean gestational age at diagnosis was 23 weeks (16-34 weeks). One of 4 cases progressed to severe hydronephrosis with megacystis and was referred to a Fetal Medicine Center for fetoscopy and laser ureterocelotomy. The remaining 3 cases did not need fetal therapy. Mean gestational age at delivery was 37 weeks. One case abandoned follow-up; 2 children were submitted to cystoscopic ureterocele incision and the child submitted to fetal therapy needed heminephrectomy due to recurrent urinary tract infections. In those 3 cases renal function was preserved. When a fetal ureterocele is diagnosed, close sonographic surveillance should be offered to monitor the possible urinary tract obstruction and assess the need for prenatal intervention. Fetal diagnosis is important to program the timing of delivery and postnatal care. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Macrosomia is diagnosed when excessive intrauterine fetal growth occurs and the birth weight surpasses an established limit. The causes and risk factors for fetal macrosomia are diverse. Pregnancies with fetal macrosomia are considered high risk and require intensive antenatal care. Prenatal ultrasound appears to be the best method for performing weight estimates before birth, as the correct birth weight is often underestimated when using biometric formulae to determine the fetal weight. Three-dimensional volume sonography has been shown to improve estimates of fetal weight by including limbs volumes. The recent Hart formula has been specifically developed for fetal macrosomia estimation and appears to improve accuracy. Delivery of a macrosomic baby is also high risk and should be performed in tertiary centres with experienced obstetricians. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Introduction: The aim of this study was to describe the association between fetal echogenic bowel (FEB) diagnosed during the second trimester and adverse perinatal outcomes in an Australian antenatal population. Methods: A retrospective analysis of ultrasound scans was performed between March 1, 2004 and March 1, 2009 at The Royal Women's Hospital, Melbourne, Vic., Australia. Cases reported as having FEB on second trimester ultrasound were included. Medical records of each case were reviewed and information concerning additional investigations and perinatal outcomes were extracted. Results: A total of 66 cases were identified in our database. Three patients (5%) were excluded from further analysis as they were lost to follow-up, leaving 63 (95%) cases in this series. Thirty-two fetuses (52%) underwent karyotyping via amniocentesis, 5 (16%) of which were found to have chromosomal defects. Maternal serology for cytomegalovirus (CMV) was performed in 49 (78%) cases. Investigations indicated a total of 5 women who had CMV infection during their pregnancy. Thirty-three pregnancies (53%) were tested for cystic fibrosis (CF) and 1 baby was confirmed to have CF postnatally. Among the 50 liveborn infants, 3 cases of fetal growth restriction were apparent. Overall, 42 of the 50 liveborn infants (84%) and 67% of the entire cohort of 63 patients with a midtrimester diagnosis of FEB had a normal short-term neonatal outcome. Conclusion: This study reiterates the increased prevalence of aneuploidy, CMV, CF and fetal growth restriction in pregnancies complicated by the midtrimester sonographic finding of FEB. However, reassuringly, 67% of cases with ultrasound-detected echogenic bowel in the second trimester had a normal short-term neonatal outcome in this multiethnic Australian population. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objectives: Evaluation of morphological and morphometric characteristics of fetuses with Down syndrome based on a detailed postmortem examination and comparison of these fetuses with a control group of fetuses with normal karyotype to improve the prenatal knowledge of Down syndrome characteristics. Material and Methods: A case-control study was undertaken in a tertiary referral hospital. The Down syndrome fetuses (50) were compared with chromosomally normal fetuses (47) matched for gestational age. Biometric and morphological parameters were compared. Results: The biometry of fetuses with Down syndrome differs from control fetuses only in the occipitofrontal diameter and in the nasal bone length. There were craniofacial anomalies in 96% of fetuses with Down syndrome and in 51% of fetuses with normal karyotype. With the exception of small ears, all craniofacial features analyzed were significantly different between Down syndrome fetuses and control fetuses. All extremity features of fetuses with Down syndrome were significantly different from fetuses without Down syndrome. There were 31 fetuses with Down syndrome (62%) with 55 internal anomalies. Nineteen fetuses (38.8%) showed 27 cardiac anomalies. Six fetuses had more than one anomaly. There were 18 fetuses (36%) with 28 noncardiac anomalies. Discussion: The importance of studying the morphological characteristics of fetuses with Down syndrome is the contribution to a better knowledge of fetal characteristics and probably to optimize prenatal diagnosis. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Introduction: The differential diagnosis of an abdominal cyst can be challenging, and an accurate diagnosis is crucial for optimal antenatal management. The aim of this study was to compare the ante- and postnatal diagnoses of cases with abdominal cyst and to determine the diagnostic accuracy of ultrasonography. Material and Methods: A database review was performed regarding the diagnosis of fetal abdominal cyst covering the period 2002-2009. Structural characteristics and localizations of the cysts in the abdomen were recorded. Ante- and postnatal diagnoses were classified into systems according to the origin of the cyst and were compared. Perinatal outcomes were obtained for all cases. Results: 71 cases with an abdominal cyst were identified. The mean gestational age at the time of diagnosis was 25 ± 5.1 weeks. In 9 cases, there were extra-fetal structural abnormalities, and in 5 cases a chromosomal abnormality was determined. Seven pregnancies were terminated. Overall spontaneous mortality was 11/64 (17%). In 12/64 cases (18%), the cyst resolved at birth. After birth, nearly half of the cases required surgical correction and of these, 20% died. Sensitivity, specificity and positive predictive value of ultrasonography in identifying the system of origin were 88.1, 95.7 and 92.0%, respectively, with a 4.1% false-positive rate. Conclusion: Incorporation of different disciplines in the counseling, management and postpartum follow-up is crucial. Postnatal physical examination of fetuses with an abdominal cyst will help to prevent unnecessary surgery. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Enlargement of a kidney on prenatal imaging is usually due to hydronephrosis or cystic renal disease, and much less often results from solid tumors such as mesoblastic nephroma, Wilms’ tumor, nephroblastomatosis, renal sarcoma, and angiomyolipoma. All can be diagnosed by ultrasound. Magnetic resonance imaging is useful not only in confirming the presence of a renal mass, but also in the evaluation of the contralateral kidney for subtle abnormalities. We present one case each of Wilms’ tumor and mesoblastic nephroma, both detected on antenatal ultrasound and further studied with fetal magnetic resonance imaging. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Perineal lipoma is a rare condition which is commonly associated with scrotal anomalies and may be diagnosed as ambiguous genitalia. We report on a baby with penoscrotal transposition (PST) consisting of bifid scrotum and hypospadias with chordee associated with perineal lipoma. The affected baby was one twin of an IVF pregnancy referred to our center for ambiguous genitalia by fetal ultrasound. Examination of the uterus revealed a dichorionic, diamniotic twin pregnancy. Fetal ultrasound and MRI in our center revealed an exophytic perineal mass, which likely represented a lipoma, separate from the abnormally appearing phallus and scrotum (hypospadias with chordee and a bifid scrotum). This likely fell into the PST spectrum. There were no additional abnormalities in the other structures and no structural abnormality of co-twin was detected. Fetal growth of both twins was appropriate for gestational age. Babies were born at term and the findings of the affected twin correlated with the fetal diagnoses. While some reports show PSTs are associated with multiple anomalies, in this case no additional anomalies were identified. Perineal lipomas are commonly associated with scrotal abnormalities and anorectal malformations. It is hypothesized that these anomalies develop because of the perineal lipoma. MRI combined with ultrasound clearly defined the anomaly prenatally and allowed for accurate prenatal counseling and coordination of postnatal care. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

A case of prenatal sonographic diagnosis of fetus in fetu is described. Postnatal laparotomy was performed and the diagnosis was confirmed by pathological examination. [ABSTRACT FROM AUTHOR]

Objectives: Neuroblastoma is the most common extracranial solid tumor of childhood, and the most common malignancy diagnosed during infancy. In comparison, neonatal neuroblastoma is relatively rare. Improvements in prenatal imaging and widespread use of fetal ultrasonography have led to an increased rate of prenatal diagnoses. Methods: Case report and literature review. Results: We report a case of an intermediate-risk neuroblastoma, diagnosed at 36 weeks’ gestation by ultrasound and subsequently visualized by fetal MRI, that resulted in spinal cord compression and decreased fetal movement. A multidisciplinary team approach resulted in rapid delivery, evaluation, biopsy, staging, and treatment implementation in a successful effort to preserve lower extremity function. Conclusion: Prenatal diagnosis of neuroblastoma, management and outcomes are reviewed. Prompt diagnosis can strongly influence perinatal management and improve prognosis. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objectives: To report a technique to view the fetal soft and hard palates, utilizing acquired routine 3-D volumes of the fetal face. Method: The axial, sagittal and coronal planes in acquired volumes of 3-D surface rendering of 5 normal fetal faces obtained at 19, 21, 23, 26 and 28 weeks, respectively, were reviewed by focusing on the uvula. Results: The surfaces of the soft and the hard palate could be viewed in oblique axial, oblique sagittal and targeted coronal planes in all fetuses. Conclusion: Rotating or tilting of the axial, sagittal and coronal planes of the fetal head allows the visualization of the various aspects of the soft and hard palates, with the uvula as a useful landmark. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We report a case of isolated voluminous fetal ascites discovered during a routine fetal ultrasound at 22 weeks' gestation. Analysis of the fluid showed it to be chyliform and ruled out other causes of fetal ascites. Regular bimonthly ultrasound scans monitored its progressive diminution and then its disappearance. Examination showed the child to be normal at birth. Though the literature indicates that prognosis is usually favorable for infants with isolated fetal chylous ascites, spontaneous regression during pregnancy is an uncommon finding. [ABSTRACT FROM AUTHOR]

Pericardial hemangiomas are rare lesions. We present the case of an infant who was referred to our fetal diagnosis and treatment group for the presence of a left thoracic mass, pleural effusion, and mediastinal shift on fetal ultrasound. The characteristics of the lesion suggested the presence of a pulmonary sequestration. A chest radiograph done at birth was normal. At 2 weeks of age, an enhancing lesion of the left pericardium was identified on chest CT. A cardiac MRI demonstrated enhancement of the mass on T2-weighted images. The patient underwent thoracoscopic assessment of the mass for diagnostic purposes. Multiple lesions were identified along the left pericardium and diaphragm. A frozen section biopsy revealed a hemangioma. The natural history for hemangiomas is gradual regression; however, they may increase acutely in size and cause symptoms prior to involution. Investigations should be performed to identify the involvement of other organs. This case illustrates the need to closely follow all patients with prenatally diagnosed thoracic masses with CT imaging, even when they are asymptomatic and have a normal chest radiograph at birth. [ABSTRACT FROM AUTHOR]

Objective: To review the incidence of posthysterotomy chorioamniotic membrane separation and delivery outcome following open fetal surgery [myelomeningocele (MMC); cystic adenomatoid malformation (CCAM); congenital diaphragmatic hernia (CDH); sacrococcygeal teratoma (SCT)].Study Design: Retrospective review of a maternal population undergoing open fetal surgery at a single tertiary level program (1998-2001) following the initiation of close postoperative ultrasound follow-up for membrane separation. Onset of membrane separation was coded as not present (NP), immediate (<2 weeks) or delayed (>2 weeks) from day of surgery.Results: Fifty-three charts were reviewed: MMC 43, CCAM 7, CDH 1, and SCT 2. In the MMC group there were 26 NP, 8 immediate, and 9 delayed. Preterm labor occurred in 4 patients with only 2 having had membrane separation. Risk of membrane separation is increased for surgery done at less than 23 weeks gestation (p < 0.005). Delay from MMC surgery to delivery was 11.0, 9.8, 12.0 weeks for NP, immediate, and delay, respectively. In the MMC group, there were 3 neonatal deaths (NND) at 9, 9, and 21 days post surgery (PROM/PTL; chorioamnionitis, PROM/PTL, respectively). No membrane separation was present in the CCAM, CDH, and SCT cases.Conclusions: (1) Membrane separation was significantly more likely to occur if surgery was performed prior to 23 weeks. (2) Membrane separation post hysterotomy (17/50 = 34%) may be associated with an increased risk of PROM but not delivery before 30 weeks gestation. (3) Delivery prior to 33 weeks gestation for MMC groups was 12/43 (28%) with 3 NND (7%). (4) Elective delivery at 36-37 weeks gestation was possible for 43% of the fetal surgery population. [ABSTRACT FROM AUTHOR]

A human tail is a rare congenital anomaly with a prominent lesion from the lumbosacrococcygeal region. According to Dao and Netzky human tails are classified into 'true tails' and 'pseudotails'. True tails comprise only mesenchymal tissue (adipose, connective, muscle, nerve tissue, blood vessels, and cutis). They are presumed to be remnants of the embryologic tail. All other lumbosacrococcygeal protrusions are summarized as pseudotails. Superficially they may resemble true tails. They contain normal or abnormal tissue, e.g. cartilage, lipoma and glioma. We report a case of prenatal diagnosis of a human tail in association with omphalocele, hydrocephalus and antiphospholipid-antibody syndrome resulting in a severe fetal growth restriction. Due to cartilage content the appendage had to be classified as 'pseudotail'. However, anatomical position and the decrease of length observed by consecutive ultrasound examinations at 14 and 21 weeks of gestation was suggestive of delayed regression of a 'true tail'. Furthermore, the association of antiphospholipid-antibody syndrome with congenital malformations is discussed. [ABSTRACT FROM AUTHOR]

Since its inception in 1995, the mission of the Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia (CHOP) has been to provide comprehensive, multidisciplinary expertise in all facets of prenatal diagnosis, reproductive genetics, and prenatal, perinatal, and postnatal treatment for abnormal fetuses. Most of the authors were trained and/or served on faculty at centers in San Francisco (N.S.A., A.W.F., T.M.C., L.J.H.) or Detroit (A.W.F, M.P.J.). Accurate prenatal detection by serial sonographic study and the development of ultrafast magnetic resonance imaging (MRI) scanners has permitted delineation of the natural history of anatomic malformations. Definition of the pathophysiological features that affect clinical outcome and formulation of management based on prognosis has allowed families to make informed decisions. Outcomes have been improved through carefully planned and coordinated perinatal management. In some cases of life-threatening or severely debilitating defects, prenatal surgery has been offered. [ABSTRACT FROM AUTHOR]

AbstractThe purpose of this case report is to demonstrate the importance of prenatal imaging for treatment management of fetal giant hepatic hemangiomas. Prenatal ultrasound revealed an abdominal mass with several cystic areas and punctate calcifications in a fetus at 29 weeks’ gestation. Doppler scans confirmed the highly vascular nature of the mass. In this case, ultrasound diagnosed the mass was of hepatic origin, while magnetic resonance imaging at 32 weeks’ gestation was more equivocal with respect to the anatomy source of the lesion. Imminent hydrops caused by a rapidly enlarged liver tumor was sonographically demonstrated at 34 weeks’ gestation. An elective C-section and immediate tumor resection was performed. At the age of 20 months the infant is thriving. This case supports the notion that the survival rates for giant hepatic hemangiomas improve when fetal hydrops is averted and specific pre- and postnatal treatment is applied based on correct prenatal imaging diagnostics.Copyright © 2003 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

A 34-year-old Hispanic woman was referred to us at 18 weeks' gestation for prenatal ultrasound. Sonographic evaluation showed a large omphalocele similar in size to the abdomen. Ultrasonographic and MRI images illustrating the typical appearance of a giant omphalocele are provided. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]