Hysteroscopic resection vs dilation and evacuation for treatment of caesarean scar pregnancy: study protocol for a randomised controlled trial.

Background: Caesarean scar pregnancy (CSP) is a type of ectopic pregnancy where the fertilised egg is implanted in the muscle or fibrous tissue of the scar after a previous caesarean section. Management options for women who opted for termination of CSP include sharp curettage, dilation and evacuation (D&E), excision of trophoblastic tissues, local or systemic administration of methotrexate, bilateral hypogastric artery ligation, and selective uterine artery embolisation with curettage and/or methotrexate administration. Recently hysteroscopic resection has also been proposed as an alternative option. Objective: To compare the surgical outcome of hysteroscopic resection with dilation and evacuation (D&E) for the treatment of caesarean scar pregnancy (CSP). Methods: Parallel-group, non-blinded, randomised clinical trial conducted at a single centre in Italy. Eligible women are those with singleton gestations at less than 9 weeks of gestation, and with thickness of myometrial layer ≥1 mm at the level of the ectopic. Inclusion criteria are women with CSP with positive embryonic/fetal heart activity who opted for termination of pregnancy. Patients will be randomised 1:1 to receive either hysteroscopic resection (i.e. intervention group) or D&E (i.e. control group). In both groups, 50 mg/m2 (based on DuBois formula for body surface area) of methotrexate (MTX) will be injected intramuscularly at the time of randomisation (day 1) and another dose at day 3. A third dose of MTX is planned in case of persistence of fetal heart activity on day 5. Participants will receive either D&E or hysteroscopic resection from 3 to 7 days after the last dose of MTX. A sample size of 54 women is planned. Main outcome measures: The primary outcome is the success rate of the treatment protocol, defined as no requirement for further treatment until complete resolution of the CSP as demonstrated by negative beta hCG levels and absence of residual gestational material on ultrasound examination.. Study hypothesis: Hysteroscopic surgery is superior to D&E for the treatment of CSP. What is new?: The results of the trial will provide information on the best treatment for CSP.

Hindbrain morphometry and choroid plexus position in differential diagnosis of posterior fossa cystic malformations.

OBJECTIVE: To assess the differential diagnostic significance of a series of quantitative and qualitative variables of the cerebellar vermis in fetuses with posterior fossa cystic malformation, including Dandy-Walker malformation (DWM), vermian hypoplasia (VH) and Blake's pouch cyst (BPC). METHODS: This was a retrospective study of confirmed cases of DWM, VH and BPC, diagnosed at the Fetal Medicine and Surgery Unit of the Federico II University between January 2005 and June 2013 or the Fetal Medicine and Surgery Unit of G. Gaslini Hospital between July 2013 and September 2017. All included cases had good-quality three-dimensional (3D) volume datasets of the posterior fossa, acquired by transvaginal ultrasound through the posterior fontanelle. The midsagittal view of the posterior fossa was the reference view for the study. We assessed brainstem-tentorium angle and brainstem-vermis angle (BVA), as well as craniocaudal (CCVD) and anteroposterior (APVD) vermian diameters and vermian area (VA), which were normalized by biparietal diameter (BPD) to take into account gestational age (CCVD/BPD × 100, APVD/BPD × 100 and VA/BPD × 100, respectively). Finally, the position of the fourth ventricular choroid plexus (4VCP) was defined as normal ('up') or abnormal ('down'), relative to the roof/cyst inlet of the fourth ventricle. RESULTS: We analyzed 67 fetuses with posterior fossa malformations (24 cases of DWM, 13 of VH and 30 of BPC). The mean gestational age at diagnosis was 23.6 weeks. Regardless of gestational age, the BVA differed significantly between the three groups, and the VA/BPD was able to differentiate between VH and BPC. In differentiating between VH and BPC, the greatest areas under the receiver-operating characteristics curve were those for VA/BPD ratio. The 4VCP position was down in all cases of DWM and VH, while it was up in all cases of BPC. CONCLUSIONS: Our data support the concept that VA/BPD ratio and 4VCP position may be used to differentiate between DWM, VH and BPC in the fetus. In our series, the position of the 4VCP had the highest accuracy, but a larger number of VH cases should be evaluated to confirm that an up position of the 4VCP indicates BPC while a down position indicates DWM or VH. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Accuracy of neurosonography and MRI in clinical management of fetuses referred with central nervous system abnormalities.

OBJECTIVE: To assess the accuracy of expert neurosonography (two- and three-dimensional NSG) in the characterization of major fetal central nervous system (CNS) anomalies seen at a tertiary referral center and to report the differential clinical usefulness of magnetic resonance imaging (MRI) used as a second-line diagnostic procedure in the same cohort. METHODS: This was a retrospective analysis of all 773 fetuses with confirmed CNS abnormalities referred to our center between 2005 and 2012. The following variables were analyzed: gestational age at NSG and MRI, NSG and MRI diagnoses, indication for MRI (confirmation of NSG findings; diagnostic doubt; search for possible additional brain anomalies), association with other malformations, diagnostic accuracy of NSG vs MRI (no additional clinical value for either MRI or NSG; additional information with clinical/prognostic significance on MRI relative to NSG; additional information with clinical/prognostic significance on NSG relative to MRI, NSG and MRI concordant but incorrect) and final diagnosis, which was made at autopsy or postnatal MRI/surgery. RESULTS: CNS malformations were associated with other anomalies in 372/773 (48.1%) cases and were isolated in the remaining 401 (51.9%) cases. NSG alone was able to establish the diagnosis in 647/773 (83.7%) cases. MRI was performed in 126 (16.3%) cases. The indication for MRI was: confirmation of NSG diagnosis in 59 (46.8%) cases; diagnostic query (in the case of inconclusive or uncertain finding on NSG) in 20 (15.9%) cases; search for possible additional brain anomalies in 47 (37.3%) cases. NSG and MRI were concordant and correct in 109/126 (86.5%) cases. Clinically relevant findings were evident on MRI alone in 10/126 (7.9%) cases (1.3% of the whole population) and on NSG alone in 6/126 (4.8%) cases; in all six of these cases, MRI had been performed at < 24 weeks of gestation. In one case, both NSG and MRI diagnoses were incorrect. The main type of malformation in w ich MRI played an important diagnostic role was space-occupying lesions, MRI identifying clinically relevant findings in 42.9% (3/7) of these cases. CONCLUSIONS: (1) In a tertiary referral center with good NSG expertise in the assessment of fetal CNS malformations, MRI is likely to be of help in a limited proportion of cases; (2) MRI is more useful after 24 weeks of gestation; (3) the lesions whose diagnosis is most likely to benefit from MRI are gross space-occupying lesions.

Ultrasound prenatal diagnosis of inguinal scrotal hernia and contralateral hydrocele.

Fetal inguinal scrotal hernia is a rare condition resulting in an abnormal embryonic process of the tunica vaginalis. We report a case of ultrasound prenatal diagnosis of inguinal scrotal hernia associated with contralateral hydrocele in a woman at 37 weeks of gestation, referred to our clinic for a scrotal mass. Differential diagnosis includes hydrocele, teratoma, hemangiomas, solid tumours of testis, bowel herniation, and testicular torsion. Bowel peristalsis is an important ultrasound sign and it allowed us to make diagnosis of inguinal scrotal hernia. Diagnosis was confirmed at birth and a laparoscopic hernia repair was performed without complications on day 10. During surgery, a bilateral defect of canal inguinal was seen and considered as the cause of scrotal inguinal hernia and contralateral hydrocele observed in utero.

40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features.

Large duplication of the short arm of chromosome 5 is a rare condition normally associated to severe phenotype anomalies including heart and brain malformations. We report a prenatal case of a large 5p duplication with sub-telomeric deletion in a foetus with very mild phenotypic abnormalities. Foetal ultrasonographic examination at 22 weeks of gestation showed short femur, clubfeet, pielectasy, and facial dysmorphisms. Chromosome investigations revealed an inverted duplication of the short arm of chromosome 5 from 5p13.1 to 5p15.33 and a 800 kb deletion at 5pter. The absence of severe anomalies such as cardiac and cerebral defects, observed so far in all large 5p duplications, and the comparison to previous cases described both in literature and in DECIPHER database suggest that the critical region for the severe phenotype in 5p duplication syndrome might be smaller than that previously described, excluding half of the 5p13 band. This might help in prenatal genetic counselling.

Abnormal or delayed development of the posterior membranous area of the brain: anatomy, ultrasound diagnosis, natural history and outcome of Blake's pouch cyst in the fetus.

OBJECTIVES: To review the normal and pathological development of the posterior membranous area (PMA) in the fetal brain, to define sonographic criteria with which to diagnose a Blake's pouch cyst (BPC) in the fetus and to review the ultrasound features, associations and outcome of 19 cases of BPC seen at our center over the last 5 years. METHODS: We conducted a MEDLINE search using the terms 'Blake's pouch', with or without 'fourth ventricle' or '4(th) ventricle', with or without 'roof' and identified articles describing normal and/or abnormal development of the PMA, whether or not they were cited in the limited clinical literature on BPC. A description of the normal and abnormal development of BPC was derived by collating these articles. The clinical retrospective study included 19 cases of posterior fossa anomalies with a final diagnosis of BPC seen at our institution. The following variables were assessed: referral indication, gestational age at diagnosis, ultrasound and magnetic resonance imaging (MRI) findings, associated anomalies, natural history and pregnancy and neonatal outcome. A transvaginal three-dimensional (3D) ultrasound examination was performed in all cases and 15 cases underwent MRI. To confirm the diagnosis, postnatal MRI, transfontanellar ultrasound or autopsy were available in all cases. RESULTS: Among the 19 cases reviewed, referral indications were: suspicion of vermian abnormality in 11 (58%) cases and other non-central nervous system anomaly in eight (42%) cases. Sonographically, all cases showed the following three signs: 1) normal anatomy and size of the vermis; 2) mild/moderate anti-clockwise rotation of the vermis; 3) normal size of the cisterna magna. On 3D ultrasound, the upper wall of the cyst was clearly visible in 11/19 cases, with choroid plexuses on the superolateral margin of the cyst roof. On follow-up, the BPC had disappeared by 24-26 gestational weeks in six of the 11 cases which did not undergo termination of pregnancy (TOP), and remained unaltered until birth in the other five cases. There were associated anomalies in eight (42%) cases, in five of which this consisted of or included congenital heart disease. Karyotype was available in 14 cases, two of which were abnormal (both trisomy 21). Regarding pregnancy outcome, there were eight (42%) TOPs, two (10%) neonatal deaths and nine (48%) survivors. One neonate, in whom the BPC had disappeared by the time of birth, had obstructive hydrocephaly confirmed. Another neonate was diagnosed with Down syndrome after birth. Excluding the Down syndrome baby, neurodevelopmental outcome was normal at the time of writing in all eight cases. CONCLUSIONS: Based on our analysis of ultrasound features, we propose that for BPC to be diagnosed in a fetus the following three criteria should be fulfilled: 1) normal anatomy and size of the vermis; 2) mild/moderate anti-clockwise rotation of the vermis; 3) normal size of the cisterna magna. Furthermore, we found that BPC can undergo delayed fenestration at 24-26 weeks in more than 50% of cases. Finally, it seems that BPC shows a risk of association with extracardiac anomalies (heart defects in particular) and, to a lesser extent, trisomy 21.

Aberrant right subclavian artery: incidence and correlation with other markers of Down syndrome in second-trimester fetuses.

OBJECTIVE: To assess the incidence of aberrant right subclavian artery (ARSA) and other strong markers of Down syndrome and their correlation in a large population of second-trimester Down syndrome fetuses assessed in a tertiary referral center. METHODS: Presence or absence of ARSA and other major ultrasound markers of Down syndrome was assessed in a population of 106 second-trimester Down syndrome fetuses referred to our unit for expert assessment and/or termination of pregnancy after karyotyping performed for positive first- or second-trimester screening or advanced maternal age or on maternal request. All cases in which the diagnosis of Down syndrome followed the ultrasound detection of major anomalies or soft markers were excluded from the study, as were all cases with a gestational age less than 14 + 0 weeks. We searched for the ARSA on the three vessels and trachea view using color or power Doppler. All fetuses underwent a thorough anatomic assessment and fetal echocardiography. The other Down syndrome markers assessed were: absent or hypoplastic nasal bone (NB-), defined as length < 5(th) centile; nuchal fold ≥ 5 mm; and mild pyelectasis (> 5 mm). In addition, the presence of major cardiac and extracardiac defects was recorded. A correlation analysis was then performed in order to investigate possible associations between markers and/or major anomalies. Postmortem or postnatal diagnostic confirmation was available in all cases. RESULTS: The mean (SD) gestational age at ultrasound assessment was 20.4 (4.1) weeks. The incidence of the various variables in the population of Down syndrome fetuses was: ARSA, 25%; NB-, 43%; nuchal fold ≥ 5 mm, 16%; pyelectasis, 17%; major heart defects, 41%; atrioventricular septal defect, 25%; and extracardiac anomaly, 24%. The presence of ARSA did not correlate with any of the other variables. The only positive correlations (P < 0.05) were between NB- and pyelectasis, and between cardiac and extracardiac defects. CONCLUSIONS: This represents the largest Down syndrome population assessed for ARSA. In this series, the incidence of ARSA was 25%, lower than previously reported in much smaller series. Its presence did not correlate with the presence of any other marker or major anomaly, including heart defects.

Role of four-dimensional ultrasound (spatiotemporal image correlation and sonography-based automated volume count) in prenatal assessment of atrial morphology in cardiosplenic syndromes.

OBJECTIVE: To assess the diagnostic role of four-dimensional ultrasound using spatiotemporal image correlation and Sonography-based Automated Volume Count (STIC-SonoAVC) in the identification of the morphology of the atrial appendages in cases with cardiosplenic syndrome. METHODS: This was a retrospective investigation of 22 fetuses with cardiosplenic syndromes seen at our institution over a 5-year period from January 2004. As control groups, 10 normal fetuses, five cases with a non-isomeric atrioventricular septal defect and five cases with other congenital heart diseases were also analyzed. For all fetuses, one or more cardiac volume datasets were available for offline analysis. Two-dimensional and four-dimensional echocardiography was carried out in all cases at the time of diagnosis using high quality three-dimensional equipment. Dedicated software was used to assess chamber morphology using the SonoAVC technique, which allows the creation of casts of hollow structures. Two different operators used the software. The first performed all steps up to positioning of the region of interest box. The second operator, who was blinded to clinical information, then rendered the cardiac chambers using the SonoAVC technique. This operator then used the rendered image to subjectively assess atrial morphology. RESULTS: Suitable rendered images of the cardiac chambers could be produced in 40/42 fetuses. In two cases of left atrial isomerism, advanced (34 weeks) and early (13 weeks) gestational age made it impossible to obtain adequate rendered images. In the remaining 40 cases (13 cases of left atrial isomerism, seven cases of right atrial isomerism, five cases of non-isomeric atrioventricular septal defect, five cases of other congenital heart diseases and 10 normal fetuses), atrial morphology was correctly identified by evaluation of the rendered images. CONCLUSION: Four-dimensional ultrasound with SonoAVC rendering allows correct identification of the morphology of atrial appendages in all cases of cardiosplenic syndromes in which an adequate cardiac volume dataset can be obtained for analysis.

Partial atrioventricular septal defect in the fetus: diagnostic features and associations in a multicenter series of 30 cases.

OBJECTIVE: To assess the anatomical features and the associations of partial atrioventricular septal defect (pAVSD) in the fetus. METHODS: This was a retrospective multicenter study of 30 cases of confirmed pAVSD seen since 1996 at two referral centers. The following variables were available for analysis in all cases: indications for fetal echocardiography, diagnostic features, associated cardiac, extracardiac and chromosomal anomalies and fetoneonatal outcome. At fetal echocardiography, the echocardiographic features deemed indicative of pAVSD were: 1) ostium primum atrial septal defect and 2) loss of the normal offset appearance of the atrioventricular valves. RESULTS: Eighteen of the 30 (60%) cases were diagnosed before 24 weeks of gestation and 12 were diagnosed later. Suspicion of congenital heart disease and known aneuploidy (trisomy 21) accounted for 60% of the referral indications. The two anatomical landmarks deemed indicative of pAVSD were detected in all cases at echocardiography. Twelve cases were isolated (one with increased nuchal transluceny at the 12-week scan, one with polyhydramnios, one with fetal growth restriction) including four that were detected on routine ultrasound examination by the authors. Additional cardiac anomalies were present in five (17%) cases, four of which involved aortic coarctation. There were associated chromosomal anomalies in 13 (43%); however, excluding the six cases referred because of known Down syndrome, the adjusted association rate with aneuploidy was 29.2% (7/24). Extracardiac anomalies, including non-chromosomal syndromes, were present in 10 cases (33.3%). Regarding fetoneonatal outcome, there were 13 terminations of pregnancy, one early neonatal death and 16 survivors, including four with mild to severe neurodevelopmental delay due to associated syndromic conditions. CONCLUSIONS: We describe the key echocardiographic features of pAVSD in the fetus. In addition, we have confirmed that the association with trisomy 21 holds also for pAVSD, though to a lesser extent, with a 12.5% association rate in this series. In the fetus, pAVSD seems to be associated with a high rate of chromosomal/non-chromosomal syndromic conditions, including skeletal dysplasias. Inutero, aortic coarctation represents the most frequently associated cardiac lesion (13.3%).

Cardiac screening by STIC: can sonologists performing the 20-week anomaly scan pick up outflow tract abnormalities by scrolling the A-plane of STIC volumes?

OBJECTIVE: To assess whether medically qualified sonologists with low-to-intermediate scanning experience are able to detect major abnormalities of the outflow tracts by reviewing the A-plane of cardiac volume datasets acquired with spatiotemporal image correlation (STIC). METHODS: Fourteen sonologists of low-to-intermediate scanning experience were recruited among residents and colleagues involved in the screening ultrasound clinic at our referral center. Basic criteria for selection were: ability to perform the 20-week anomaly scan and to assess the four-chamber view, inability to perform extended cardiac screening (outflows); willingness to participate in the study. These sonologists attended a 2-hour lesson on: a) how the outflow tract views can be abnormal, and b) how to use a laptop and the dedicated software to review cardiac volumes in the A-plane only. After this briefing, each of them, independently, reviewed 26 preselected volumes at a workstation (from 16 normal fetuses and 10 with outflow tract abnormalities), without knowing how many of them were normal. After reviewing each volume, the sonologist was asked to define the outflow tract views as normal or abnormal and, if willing, to hypothesize the anomaly. The sequence of cases was changed for each participant. The time allotted for review of the volumes was 1 hour (about 2 min per case). RESULTS: Of the 364 diagnoses from review of the volumes, 116 (31.9%) were true positives, 195 (53.6%) were true negatives, 29 (8.0%) were false positives and 24 (6.6%) were false negatives. The sensitivity, specificity and positive and negative predictive values were 83%, 87%, 80% and 89%, respectively. Individual diagnostic accuracy ranged from 66 to 100% (median, 85.5%) and individual detection rate from 50 to 100% (median, 85%). The detection rate per single congenital heart disease ranged from 50% (for TGA with intact ventricular septum) to 100% (for DORV, DORV with pulmonary atresia and TGA with ventricular septal defect). There was no correlation between detection rate and alignment of the four-chamber view with the ultrasound beam (apical vs. transverse). CONCLUSIONS: In this preliminary study, we have demonstrated that sonologists with low-to-intermediate experience of anomaly ultrasound screening in the second trimester and no experience of insonating the outflow tracts were able to identify outflow tract abnormalities by reviewing the A-plane of cardiac volume datasets, after detailed briefing.

Normal and abnormal development of the fetal anterior fontanelle: a three-dimensional ultrasound study.

OBJECTIVES: To describe the methodology for correct visualization of the anterior fontanelle using three-dimensional ultrasound, to report its normal development during gestation, and to compare this with abnormal development. METHODS: This was a cross-sectional prospective evaluation of development of the anterior fontanelle in a series of 78 normal fetuses and 47 fetuses with congenital anomalies between 12 and 38 weeks of gestation. The anterior fontanelle was visualized in a mid-sagittal view of the fetal head, preferably with a pocket of fluid between the fetal head and the uterine wall, to ensure an optimal acoustic window. Visualization using volume contrast imaging mode in the coronal plane (VCI-C) was preferred to static acquisition of three-dimensional (3D) volumes, as the former allows real-time evaluation of the 3D image. Anteroposterior and laterolateral diameters, perimeter and area of the fontanelle were measured offline, with the diameters normalized for biparietal diameter and the perimeter and area normalized for head circumference. The variables were then regressed against gestational age. RESULTS: The best fitting regression model to describe the relationships between the fontanelle anteroposterior diameter and area and gestational age was a quadratic one, whereas a simple linear model fitted all remaining variables. All variables showed a positive or biphasic correlation with advancing gestational age, but a negative one after normalization for biparietal diameter or head circumference. Twenty of the 47 fetuses with abnormalities had abnormal (18 enlarged and two reduced) fontanelle dimensions, particularly those with chromosomal or non-chromosomal syndromes, primary or secondary cardiac overload, primary skeletal dysplasias or central nervous system malformations. Hydrops was not associated with abnormal fontanelle dimensions. CONCLUSIONS: We have described the methodology to obtain correct visualization of the fetal anterior fontanelle. The actual size of the fontanelle increases during gestation, while its size in relation to the volume of the fetal head diminishes, possibly due to the rapid development of the brain hemispheres and the consequent outward growth of the calvarial bones. The fact that enlarged fontanelle dimensions may be associated with certain fetal abnormalities may be employed advantageously in the differential diagnosis of some syndromic conditions in utero.

Transposition of the great arteries in the fetus: assessment of the spatial relationships of the arterial trunks by four-dimensional echocardiography.

OBJECTIVE: Coronary arterial abnormalities can be one of the few negative prognostic indicators in transposition of the great arteries (TGA), and their occurrence is related to the type of spatial relationship of the great arteries. The main objective of this study was to assess whether the use of the reconstructed en-face view with color Doppler imaging of the four cardiac valves can demonstrate the different types of spatial relationship of the arterial trunks in fetuses with TGA, in order to derive the risk of coronary abnormalities. A secondary end-point was the evaluation of the type of coronary arterial branching pattern. METHODS: Twenty-three fetuses with a confirmed diagnosis of TGA underwent four-dimensional (4D) echocardiography at 19-33 gestational weeks. The en-face view of the four cardiac valves and color Doppler with high persistence were employed to assess the spatial relationships of the great arteries. In all cases, confirmation of the vessels' arrangement and coronary arterial distribution was obtained at neonatal echocardiography and/or surgery. RESULTS: The spatial relationships of the great vessels was identified correctly in 20/23 (87%) cases. The aorta was found to be located anterior to and to the right of the pulmonary trunk in 13/23 (56.5%) cases and just anterior to the pulmonary artery in 6/23 (26.1%) cases; in the remaining four (17.4%) cases, the two vessels were side by side. With respect to the association between the spatial relationship of the great arteries and the occurrence of an unusual pattern of coronary arterial branching, five of the TGA fetuses had abnormal coronary arterial distribution. CONCLUSIONS: Using 4D echocardiography with color Doppler, it is possible to define the spatial relationships of the great arteries in fetuses with TGA with a high degree of accuracy. This information can be used during counseling to predict the likelihood of abnormal coronary arterial distribution.

Fetuses with Down syndrome have an enlarged anterior fontanelle in the second trimester of pregnancy.

OBJECTIVE: Neonates with Down syndrome are known to have an enlarged anterior fontanelle. The aim of this study was to assess whether fetuses diagnosed with Down syndrome in the second trimester have larger anterior fontanelles in comparison with normal euploid fetuses. METHODS: The study population included 13 fetuses with trisomy 21 and 26 normal euploid fetuses analyzed between the 19(th) and the 23(rd) weeks of gestation. The anterior fontanelle was assessed by three-dimensional ultrasound, with the midsagittal plane of the fetal head being the reference view for acquisition of the volume. Anteroposterior and laterolateral diameters, perimeter and area of the fontanelle were then measured offline; the diameters were normalized for biparietal diameter and the perimeter and area were normalized for head circumference. Non-parametric statistical analysis was used to compare the mean values of all variables in the two groups of fetuses. Intra- and interobserver variability were also assessed. RESULTS: All variables except the fontanelle laterolateral diameter were significantly greater in Down syndrome fetuses than in controls, with anterior fontanelle perimeter/head circumference and fontanelle area/head circumference ratios showing the highest sensitivity for the detection of Down syndrome. Using a cut-off of 2.1 for the fontanelle area/head circumference ratio, the sensitivity and specificity for the detection of Down syndrome were 77% and 96%, respectively. CONCLUSION: During the mid-trimester the dimensions of the anterior fontanelle are significantly increased in fetuses with Down syndrome in comparison with normal euploid fetuses. This finding may be of help in the detection of trisomy 21 at the time of the anomaly scan.

Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus.

Femoral hypoplasia-unusual facies syndrome (FHUFS) is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial clefting and other minor malformations. The prenatal diagnosis of this condition is possible, but so far has been reported prospectively in only two cases. We review all cases of FHUFS reported in the literature and also describe three cases detected prenatally in the mid-trimester, underlining the variable expression of the syndrome. The reported association with maternal diabetes mellitus and differential diagnosis with other syndromes characterized by femoral hypoplasia are also discussed.

The role of spatio-temporal image correlation (STIC) with tomographic ultrasound imaging (TUI) in the sequential analysis of fetal congenital heart disease.

OBJECTIVE: Spatio-temporal image correlation associated with the tomographic ultrasound imaging mode (TUI-STIC) is a new modality that allows a complete sequential analysis of cardiac structures to be displayed on a single panel by showing all echocardiographic transverse views at the same time. The aims of this study were to identify the best settings for displaying the classic echocardiographic views at different gestational ages and to investigate the role of TUI-STIC in the sequential segmental analysis of complex congenital heart disease (CHD). METHODS: Four-dimensional volumes from 103 cases of confirmed fetal CHD diagnosed and managed at our referral center were evaluated using TUI-STIC. To select the best interslice distance for adequate display of the central cardiovascular connections, each volume was opened and the TUI mode activated, having as a reference the apical four-chamber view. The number of slices was set at nine. The volume was then scrolled until the most significant echocardiographic views were displayed on the screen windows. Then, if too many windows showed intermediate non-diagnostic views, the slice distance was adjusted finely until all key echocardiographic views showed up in the various windows. The interslice distance was regressed against gestational age and the best-fitting curve was identified. RESULTS: A sequential segmental analysis could be shown with TUI-STIC in all cases. A linear regression equation best fitted the correlation between interslice distance and advancing gestational age (r(2) = 0.9042), with the mean interslice distance being 2.7 (SD, 0.3) mm at 19-23 gestational weeks, and 4.0 (SD, 0.4) mm at 30-33 weeks. These settings allowed a complete sequential analysis in all cases. CONCLUSIONS: TUI-STIC allows a complete sequential analysis of CHD in the fetus. The most suitable interslice distances for all gestational ages could be identified. These data may be used while adopting this imaging modality in the four-dimensional evaluation of fetal CHD.

Cavernous lymphangioma of the face and neck: prenatal diagnosis by three-dimensional ultrasound.

Cavernous lymphangiomas are characterized by penetration through the subcutaneous areas between the muscular septa and represent rare variants of the more common superficial lymphangioma. Although frequently described in the fetus when involving the posterior aspect of the neck (i.e. cystic hygroma), involvement of the craniofacial region is rare. We describe the prenatal findings in a case of cavernous lymphangioma of the fetal face and neck, which extended caudally to envelop the larynx and the trachea. The anomaly was assessed by two- and three-dimensional (3D) ultrasound. The latter approach was used thoroughly both during counseling with the couple and during consultation with the pediatric surgeon. This case report confirms the usefulness of the 3D approach in the management of rare fetal anomalies. In particular, the possibility of navigating the volume facilitated consultation with the pediatric surgeon and counseling of the parents.

Hypoplastic left heart syndrome associated with left ventricle-coronary artery-pulmonary artery fistula: prenatal diagnosis and histological correlation.

We describe an unusual case of left ventricle-left coronary artery-pulmonary artery fistula associated with hypoplastic left heart syndrome (HLHS) and a ventricular septal defect, in which findings on echocardiography and histological analysis were correlated. The diagnosis was made at 22 weeks of gestation. We speculated that the presence of the fistula was the primary cause of the HLHS due to the existence of the ventricular septal defect that nullified the intraventricular pressure gradient, which is typical of hypoplastic ventricles and thought to be responsible for the secondary development of fistulas in other cases.