Non-visualization of choroid plexus of fourth ventricle as first-trimester predictor of posterior fossa anomalies and chromosomal defects.

OBJECTIVE: To assess non-visualization of the choroid plexus of the fourth ventricle (CP-4V) as a simple, qualitative and reproducible first-trimester ultrasound feature of the posterior fossa for the prediction of central nervous system (CNS) anomalies and chromosomal defects. METHODS: First-trimester three-dimensional ultrasound datasets of the fetal brain were obtained prospectively from 65 consecutive normal singletons and retrospectively from 27 fetuses identified as having an abnormal posterior fossa on first-trimester ultrasound examination, and randomly combined to form the final study group. The stored ultrasound volumes were analyzed offline by two accredited sonologists, who were not aware of the final diagnoses. The CP-4V was assessed by multiplanar navigation and classified as visible or non-visible in its normal position depending on whether or not the echogenic structure that separates the fourth ventricle from the cisterna magna was identified in both midsagittal and axial planes. Correlation with subsequent second-trimester ultrasound, fetal magnetic resonance imaging, or postmortem or postnatal findings was performed to determine the predictive value of the first-trimester findings. RESULTS: Among the 92 ultrasound datasets analyzed, 73 (79%) were acquired transabdominally and 19 (21%) transvaginally. The CP-4V was classified as visible in 64 cases and non-visible in 28 cases, with agreement between the two observers in both sagittal and axial planes in all but one case. Twelve of the 28 (43%) fetuses with non-visible CP-4V were subsequently diagnosed as having a CNS malformation (open spina bifida (n = 6), Dandy-Walker malformation (n = 2), Blake's pouch cyst (n = 2), cephalocele (n = 1) and megacisterna magna (n = 1)). In addition, 20 of these 28 (71%) fetuses had aneuploidy (trisomy 18 (n = 10), triploidy (n = 5), trisomy 13 (n = 3), Turner syndrome (n = 1) or trisomy 21 (n = 1)). There was only one false-positive case, in which the CP-4V was classified as absent in a normal fetus. CONCLUSIONS: Non-visualization of the CP-4V in the first trimester appears to be a strong marker of posterior fossa anomalies and chromosomal defects. Qualitative evaluation of this anatomic structure is simple, feasible and reproducible, and its routine assessment during the first-trimester scan may facilitate the early detection of CNS anomalies and associated fetal aneuploidy. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Mexican consumers' perceptions and attitudes towards farm animal welfare and willingness to pay for welfare friendly meat products.

Increasing concerns about farm animal welfare have led to an increase in the availability of welfare-friendly-products (WFP), but little is known about how much more consumers are willing-to-pay (WTP) for WFP or about their buying trends in Latin America. In this study, a survey was given to 843 meat consumers in the city of Toluca, Mexico. The results show that consumers were interested in farm animal welfare issues and their ethical, sociological and economic implications, as in Europe. The people surveyed also conveyed a high level of empathy with animal feelings and emotions, however they clearly demanded more information and regulations related to farm animal welfare. The majority of respondents expressed that they were WTP more for properly certified WFP, but mostly based on the benefits in terms of product quality and human health. If the demand for WFP begins to increase in Mexico, the supply chain should consider a certification system to guarantee product origin based on current conditions.

Sonographic spectrum of first-trimester fetal cephalocele: review of 35 cases.

OBJECTIVE: To describe the sonographic features of fetal cephalocele diagnosed at the time of first-trimester ultrasound screening for aneuploidy. METHODS: This was a retrospective review of cases of cephalocele diagnosed in the first trimester at four fetal medicine referral centers. Once diagnosis was suspected, a transvaginal ultrasound examination was offered to improve depiction of the cranial defect and enhance examination of fetal anatomy, with special attention given to the location, size and content of defects. To assure consistency in diagnosis, representative pictures and videoclip sequences of the cranial defect were obtained and reviewed by at least two authors. Cases were classified and compared with the assessment made at diagnosis. RESULTS: Of the 35 affected fetuses identified, 33 were of a singleton pregnancy and two were of twin pregnancies in which the other fetus was unaffected. The lesion was classified as a cranial meningocele in 13 (37%) cases and as an encephalocele in 22 (63%). The bone defect was occipital in 27 (77%), frontal in three (9%), parietal in three (9%) and non-classifiable in two (6%). Twelve (34%) were considered as small in size, 11 (31%) as medium and 12 (34%) as large. There were no reported cases of aneuploidy; however, four (11%) cases were associated with Meckel-Gruber syndrome, two (6%) with a disruptive syndrome and one (3%) with skeletal dysplasia. Eight (23%) pregnancies were lost to follow-up. Parents opted for termination of pregnancy in 21 of the 27 remaining cases and, of the six ongoing pregnancies, four patients miscarried or the fetus died in utero during the second trimester, one liveborn infant died shortly after delivery and one underwent neonatal surgery for an isolated cranial meningocele and is currently doing well. CONCLUSIONS: First-trimester sonographic diagnosis of cephalocele is accomplished easily with a detailed examination of the skull contour at the time of routine assessment of the axial and sagittal views of the head for measurement of the biparietal diameter and nuchal translucency, respectively. However, the sonographic features are highly variable. A significant proportion of cases are associated with genetic or disruptive syndromes. Prenatal diagnosis of cephalocele in the first trimester was associated with a high rate of termination of pregnancy and early intrauterine fetal demise. Only one fetus in this series survived and is neurologically intact; therefore, the prognosis of this condition remains poor.

First-trimester assessment of nasal bone using retronasal triangle view: a prospective study.

OBJECTIVE: To examine the feasibility and accuracy of fetal nasal bone (NB) assessment in the retronasal triangle (RNT) view for aneuploidy screening in the first trimester of pregnancy. METHODS: Consecutive women with singleton pregnancies undergoing sonographic screening at 11-13 weeks' gestation were prospectively evaluated. In all cases, assessment of the NB by using the RNT view was attempted and classified as present (if one or both of the NBs were clearly seen) or absent/hypoplastic (if the NB was not visualized or if it was small and less echogenic than the surrounding bones). The detection rate of fetal karyotypic abnormalities by the assessment of the NB in the RNT view was calculated. RESULTS: In total, 1977 women were scanned. The RNT was successfully examined in 1970 fetuses (99.6%). Fetal outcome was available in 1767 (89.7%) of evaluated cases, and of these, 39 (2.2%) cases of aneuploidy were documented (trisomy 21, n=17; trisomy 18, n=8; trisomy 13, n=5; Turner syndrome, n=5; and triploidy, n=4). The prevalence of absent/hypoplastic NB was 12/1728 (0.7%) in chromosomally normal fetuses and 12/17 (70.6%) in trisomy 21 fetuses. Sensitivity, specificity and positive and negative predictive values of absent/hypoplastic NB for trisomy 21 were 70.6%, 99.3%, 50.0% and 99.7%, respectively. The positive and negative likelihood ratios of NB assessment were 101 (95% CI, 53-193) and 0.3 (95% CI, 0.14-0.62), respectively. CONCLUSIONS: The RNT view is a useful technique for assessing the NB during the first trimester of pregnancy. With this new approach, performance of absent/hypoplastic NB as a marker of aneuploidy, mainly trisomy 21, appears to be similar to that previously reported by using the mid-sagittal plane.

First-trimester diagnosis of cleft lip and palate using three-dimensional ultrasound.

OBJECTIVE: To determine whether systematic examination of primary and secondary palates using three-dimensional (3D) ultrasound aids in the identification of orofacial clefts in the first trimester. METHODS: 3D datasets were acquired prospectively from women undergoing first-trimester ultrasound screening for aneuploidy. Multiplanar mode display was used for offline analysis of (1) the primary palate in the coronal plane at the base of the retronasal triangle and (2) the secondary palate by virtual navigation in the axial plane. In addition, 3D datasets from three fetuses with a cleft palate diagnosed in the first trimester were retrospectively identified and included randomly in the study group. RESULTS: A total of 240 3D datasets from 237 pregnancies (including three sets of twins), 89% of which were obtained transabdominally and 11% transvaginally, were examined independently by three operators. The quality of the 3D datasets was classified subjectively as good, fair and poor in 76%, 20% and 4% of cases, respectively. Seven fetuses had an orofacial cleft; all involved both the primary palate and the secondary palate. Using 3D offline analysis, the primary palate was classified as intact in 229 (95%), cleft in nine (4%) and indeterminate in two (1%). Seven of the nine fetuses suspected to have a cleft affecting the primary palate had the cleft confirmed at birth or at postmortem examination (false-positive rate 0.9% (2/231)). The secondary palate was classified as intact in 217 (90%), cleft in six (3%) and indeterminate in 17 (7%). Clefts of the secondary palate were confirmed in all six suspected cases and missed in one, which was diagnosed at 16 weeks. The visualization rate was affected by the quality of the 3D dataset (P < 0.001) and gestational age at evaluation (P < 0.01). CONCLUSION: In our series, all cases of clefting of the primary palate and 86% of cases involving the secondary palate were visualized using 3D ultrasound with a satisfactory false-positive rate. Virtual navigation of the fetal palate using the multiplanar mode display seems to be useful in the diagnosis of clefting in the first trimester.

Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high-risk population.

OBJECTIVES: To investigate whether sonographic identification of the fetal perianal muscular complex (PAMC) is of value in the prenatal detection of anorectal atresia in a high-risk population. METHODS: During an 8-year study period, a total of 189 pregnancies at high risk for fetal anorectal atresia were prospectively examined for the presence/absence of the PAMC on axial ultrasound views of the fetal perineum. The prenatal findings were confirmed postnatally or at the time of postmortem examination. RESULTS: The median gestational age at examination was 27 (range, 15-37) weeks. The PAMC was identified in 175 fetuses, all of which had a normal anorectal canal at the time of delivery or at postmortem examination. The PAMC was not identified prenatally in the 14 remaining cases, and the anus was absent in 11 fetuses with anorectal atresia and in two with urorectal septum malformation sequence. There was one false-positive case, in which the anus was anatomically and functionally normal but ectopically located, opening into the vaginal vestibule. Among these 14 cases of anorectal malformation, prenatal dilatation of the distal bowel was seen in nine (64.3%) and intraluminal calcified meconium or enterolithiasis in five (35.7%). Overall, absent PAMC on prenatal sonography in this high-risk population had a sensitivity of 100%, specificity of 99%, true-positive rate of 93% and false-positive rate of 7% for the diagnosis of anorectal atresia. CONCLUSIONS: In a high-risk population, the absence of PAMC seems to be a highly sensitive and specific sonographic marker for anorectal atresia. The role of routine sonographic identification of the PAMC at the second-trimester scan to screen for cases of isolated anal atresia remains to be determined.

Absent mandibular gap in the retronasal triangle view: a clue to the diagnosis of micrognathia in the first trimester.

OBJECTIVE: To describe a new ultrasound technique that may be useful for the diagnosis of micrognathia in the first trimester of pregnancy. METHODS: The retronasal triangle (RNT) view is a technique that captures the coronal plane of the face in which the primary palate and the frontal processes of the maxilla are visualized simultaneously. Normal first-trimester fetuses display a characteristic gap between the right and left body of the mandible in this view (the 'mandibular gap'). The presence or absence of this gap was evaluated and measured prospectively during real-time scanning (n = 154) and retrospectively by analyzing three-dimensional (3D) datasets (n = 50) in normal first-trimester fetuses undergoing screening for aneuploidy at 11-13 weeks' gestation. 3D datasets from 12 fetuses with suspected micrognathia were also collected and examined retrospectively for the same features. RESULTS: The mandibular gap was identified in all 204 normal fetuses and increased linearly with increasing crown-rump length (y = 0.033x + 0.435; R(2) = 0.316), with no statistically significant differences between measurements obtained by two-dimensional ultrasound and 3D offline analysis. Among fetuses with suspected micrognathia, three 3D datasets were excluded from analysis because of poor image quality in one and the diagnosis of a normal chin in two. In the remaining nine fetuses, the mandibular gap was absent and was replaced by a bony structure representing the receding chin in seven (77.8%) cases and was not visualized due to severe retrognathia in the remaining two (22.2%) cases. All fetuses with micrognathia had associated anomalies, including seven with aneuploidy and two with skeletal dysplasia. CONCLUSIONS: The RNT view may be a helpful technique for detecting micrognathia in the first trimester. The absence of the mandibular gap or failure to identify the mandible in this view is highly suggestive of micrognathia and should prompt a targeted ultrasound scan to assess for other anomalies. Further research is needed to determine the false-positive and false-negative rates of this technique.

Retronasal triangle: a sonographic landmark for the screening of cleft palate in the first trimester.

OBJECTIVES: To describe a new first-trimester sonographic landmark, the retronasal triangle, which may be useful in the early screening for cleft palate. METHODS: The retronasal triangle, i.e. the three echogenic lines formed by the two frontal processes of the maxilla and the palate visualized in the coronal view of the fetal face posterior to the nose, was evaluated prospectively in 100 consecutive normal fetuses at the time of routine first-trimester sonographic screening at 11 + 0 to 13 + 6 weeks' gestation. In a separate study of five fetuses confirmed postnatally as having a cleft palate, ultrasound images, including multiplanar three-dimensional views, were analyzed retrospectively to review the retronasal triangle. RESULTS: None of the fetuses evaluated prospectively was affected by cleft lip and palate. During their first-trimester scan, the retronasal triangle could not be identified in only two fetuses. Reasons for suboptimal visualization of this area included early gestational age at scanning (11 weeks) and persistent posterior position of the fetal face. Of the five cases with postnatal diagnosis of cleft palate, an abnormal configuration of the retronasal triangle was documented in all cases on analysis of digitally stored three-dimensional volumes. CONCLUSIONS: This study demonstrates the feasibility of incorporating evaluation of the retronasal triangle into the routine evaluation of the fetal anatomy at 11 + 0 to 13 + 6 weeks' gestation. Because fetuses with cleft palate have an abnormal configuration of the retronasal triangle, focused examination of the midface, looking for this area at the time of the nuchal translucency scan, may facilitate the early detection of cleft palate in the first trimester.

Terms, definitions and measurements to describe the sonographic features of the endometrium and intrauterine lesions: a consensus opinion from the International Endometrial Tumor Analysis (IETA) group.

The IETA (International Endometrial Tumor Analysis group) statement is a consensus statement on terms, definitions and measurements that may be used to describe the sonographic features of the endometrium and uterine cavity on gray-scale sonography, color flow imaging and sonohysterography. The relationship between the ultrasound features described and the presence or absence of pathology is not known. However, the IETA terms and definitions may form the basis for prospective studies to predict the risk of different endometrial pathologies based on their ultrasound appearance.

Three-dimensional ultrasound diagnosis of cleft palate: 'reverse face', 'flipped face' or 'oblique face'--which method is best?

OBJECTIVES: To compare the performance of three sonographic techniques, the 'reverse-face', 'flipped-face' and 'oblique-face' methods, for visualizing the hard and soft palate in diagnosing cleft lip and palate (CLP). METHODS: A total of 60 fetuses (10 with CLP) with a gestational age ranging from 20 to 33 weeks were examined. We compared visualization of the secondary palate with the previously described reverse-face and flipped-face methods (the latter modified by us) and the oblique-face method developed by us using Oblique View imaging technology. RESULTS: Among the 10 fetuses with CLP the defect involved the lip, alveolus and secondary palate in seven, and the primary palate only in the remaining three. The upper lip and alveolar ridge were well visualized in all cases with all three methods. Involvement of the hard palate was diagnosed correctly in 71% (5/7) of the cases using the reverse-face view, in 86% (6/7) with the flipped-face view, and in 100% (7/7) with the oblique-face view; the hard palate was correctly found to be intact in 78%, 84% and 86%, respectively, of the 50 normal fetuses examined with each view. Involvement of the soft palate was diagnosed correctly in only one of the seven fetuses with defects of the secondary palate in flipped-face and oblique-face views, and was correctly considered intact in only 16% of normal fetuses in flipped-face view and in 26% in oblique-face images. CONCLUSIONS: Accurate visualization of the soft palate requires an excellent initially acquired volume, fluid between the fetal tongue and palate, and curving of the plane to follow the structure of the palate. The oblique-face or flipped-face views make it possible to visualize the soft palate well in selected cases.

Nuchal translucency and nasal bone in first-trimester ultrasound screening for aneuploidy in multiple pregnancies.

OBJECTIVE: To review our experience with first-trimester screening of chromosomal abnormalities in multiple pregnancies using nuchal translucency (NT) thickness measurement and nasal bone assessment. METHODS: Cases of multiple pregnancy presenting for first-trimester ultrasound evaluation and with viable fetuses measuring between 45 and 84 mm were recruited for this study. Crown-rump length, NT thickness, the presence or absence of the nasal bone and chorionicity were determined and the information prospectively collected in a dedicated database. RESULTS: There were 206 twin pregnancies, eight sets of triplets, and one set of quadruplets, totalling 440 screened fetuses. Information on perinatal outcome was available in all cases. The NT thickness was measured in all cases and was found to be greater than the 95(th) percentile in six (8.6%) of the 70 monochorionic fetuses and in 10 (2.7%) of the 370 dichorionic fetuses (P < 0.05, Fisher's exact test). The nasal bone was successfully assessed in 421 of the 440 (95.7%) fetuses and found to be absent in only four cases, three of which were found to have aneuploidy. Chromosomal abnormalities were diagnosed in six fetuses from one monochorionic and four dichorionic twin pregnancies. Five of the six affected cases were associated with increased NT thickness (sensitivity 83.3%), whereas the nasal bone was absent in only three of the aneuploid fetuses (sensitivity 50%). CONCLUSIONS: First-trimester ultrasound screening for chromosomal abnormalities using NT thickness in multiple pregnancies is highly sensitive. However, nasal bone assessment is not only limited in sensitivity but also more challenging in multiple than in singleton pregnancies owing to difficulties in obtaining adequate views of the fetal face.

Fetal abdominal cysts in the first trimester: prenatal detection and clinical significance.

OBJECTIVE: In order to determine the clinical significance of fetal abdominal cysts detected in the first trimester, we reviewed our experience with such cases collected over a 5-year period. METHODS: Five cases in which a fetal abdominal cyst was detected by ultrasound in the first trimester were identified. Information on the ultrasound findings, antenatal course and perinatal outcome was obtained in all cases. RESULTS: The abdominal cyst was confirmed by an early second-trimester scan at 14-16 weeks in all cases, at which time no associated anomalies were detected. The standard detailed second-trimester scan at 18-22 weeks demonstrated complete resolution in three cases. These women had an uneventful antenatal course, and normal newborn infants were delivered at term. However, one of these infants had intestinal malrotation, chronic abdominal distension and midgut volvulus requiring surgery at the age of 7 months. Among the remaining two cases in which the abdominal cyst persisted, one required prenatal aspiration at 19 weeks owing to significant enlargement and resolved. The other remained stable in size and was managed conservatively, but the infant required surgery at the age of 7 weeks owing to a choledochal cyst causing intermittent episodes of acholia. CONCLUSION: Abdominal cysts in early pregnancy often resolve spontaneously or remain small and are usually associated with a good outcome. Nevertheless, as they can also be associated with serious underlying gastrointestinal pathological conditions, close surveillance in the perinatal period is advocated.

Correlation of placental pathology with prenatal ultrasound findings.

There have been recent major advances in obstetric ultrasound, regarding both improved technologies and sonographer expertise, which have resulted in changes in antenatal obstetric management. The placenta is routinely examined to some extent at the time of the second trimester fetal anomaly sonogram, timing of delivery in pregnancies complicated by intrauterine growth restriction is primarily dependent on Doppler sonographic assessment of umbilical and uterine artery blood flow, and an increasing number of specific placental lesions have been described. Many non-specialist diagnostic histopathologists may be unfamiliar with these obstetric advances, but they are an increasingly common indication for submission of placentas for histological examination. Since the aims of pathological examination of the placenta are to determine the pathological basis for the clinical findings and advance understanding of the pathophysiology of pregnancy complications, this review therefore provides an overview of the most common prenatal sonographic techniques and their clinical relevance to the diagnostic pathologist, primarily focusing on conditions with specific placental implications. These range from abnormalities of placental site and cord insertion, to obstetric complications such as antepartum haemorrhage, through sonographic placental parenchymal lesions such as subchorionic and intervillous thrombi, or chorioangiomata. In addition, the pathophysiological basis of abnormal maternal and fetal maternal Doppler indices and intrauterine growth restriction are now described, being associated with decidual vasculopathy and villous changes associated with reduced intervillous blood flow respectively. Finally, rare but characteristic, sonographic appearances of villous cystic or hydropic change, may be associated with intrinsic developmental placental abnormalities such as hydatidiform mole and placental mesenchymal dysplasia, which require histological examination for their specific diagnosis.