Absence of the choroid plexus of the fourth ventricle in the first trimester / Ausencia de plexo coroideo de cuarto ventrículo en el primer trimestre

Objectives: There is an increasing interest in the sonographic detection of posterior fossa (PF) anomalies in the first trimester (1T) of pregnancy. However, there is poor agreement in the diagnostic criteria among different investigators. Our objective is to describe a qualitative reproducible sonographic feature that can be useful to predict pathology in the PF during the 1T of pregnancy. Methods: Two experienced operators, blinded to the final clinical outcome, retrospectively analysed stored 3D volume data sets from 68 1T fetuses (11 + 0‐13 + 6w), including 14 with abnormal PF that were randomly added to the sample. The choroid plexus (CP) of the IV ventricle was assessed in midsagittal and axial planes by multiplanar navigation. It was classified as present or absent if the echogenic line between the brain stem and the cisterna magna was visible or not in both planes. Results: 3D volume data sets were acquired transabdominally in 58 (85%) cases and transvaginally in the other 10 (15%). The CP of the IV ventricle was classified as present in 53 cases and as absent in 15 cases, with total agreement between the two observers in both axial and sagittal planes except for one case. The CP was absent in: 10 fetuses with aneuploidy (triploidy: 5; trisomy 13: 2; trisomy 18: 2; Turner syndrome: 1); 4 fetuses with CNS anomalies (open neural tube defects: 2; encephalocele: 1; Dandy‐Walker malformation: 1); and 1 normal fetus (false positive). Conclusions: Qualitative assessment of the CP of the IV ventricle seems to be highly reproducible. This simple sonographic feature can facilitate the detection of PF anomalies, which are frequently associated with aneuploidies

Objetivo: describir una característica cualitativa y reproducible de la fosa posterior para predecir anomalías cromosómicas y patología del sistema nervioso central durante el primer trimestre del embarazo. Métodos: 54 volúmenes 3D fueron adquiridos en gestantes a las que se realizaba la ecografia del 1ºT (11- 13+6 semanas). 20 volúmenes con ecoestructura de la fosa posterior valorada como anormal fueron analizados retrospectivamente e incluidos aleatoriamente en el grupo de estudio. Dos ecografistas experimentados, que desconocían los resultados clínicos finales, analizaron todos los volúmenes. Mediante la navegación multiplanar evaluaron el plexo coroideo del cuarto ventrículo en el plano axial y en el sagital medio. El plexo coroideo se clasificó como presente o ausente si la estructura ecogénica que existe entre el cuarto ventrículo y la cisterna magna era visible o no en ambos planos. Resultados: el plexo coroideo del cuarto ventrículo se clasificó como presente en 53 casos y como ausente en 21 con acuerdo completo entre los observadores en los planos sagitales y coronales, salvo en 1. De los 21 fetos que tenían ausencia del plexo coroideo, en 9 había una anomalía del sistema nervioso central (6 espinas bífidas, 1 encefalocele, 1 megacisterna magna, 1 malformación de Dandy-Walker) y/o alteraciones cromosómicas en 15 casos (5 triploidías, 3 trisomías 13, 6 trisomías 18, 1 45X0). Hubo un falso positivo, con el plexo coroideo clasificado como ausente en un feto normal. Conclusiones: la evaluación cualitativa del plexo coroideo del cuarto ventrículo es sencilla y reproducible pudiendo facilitar la detección de aneuploidías y de algunas anomalías del sistema nervioso central

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.

Classification of Uterine Anomalies by 3-Dimensional Ultrasonography Using ESHRE/ESGE Criteria: Interobserver Variability.

OBJECTIVE: To evaluate the interobserver repeatability of the coronal view measurements and classification of the uterine malformations (UM) according to the ESHRE/ESGE consensus by transvaginal three-dimensional ultrasound (3D-US). METHODS: 89 transvaginal 3D-US volumes acquired during the last two years at Delta Ecografía in Madrid, Spain, were selected from our archive by convenience sampling. Two expert operators blinded from each other, performed post-hoc analysis using render mode and multiplanar-Volume Contrast Imaging (VCI) navigation. Uterine wall thickness at the fundus, indentation of the cavity and indentation of the fundus were measured, classified and sub-classified following the recommendations of the ESHRE/ESGE consensus. The reproducibility of interobserver measurements and classification was examined by calculating intraclass correlation coefficients (ICC) and their 95% confidence intervals (CI) and kappa statistic (k). RESULTS: Repeatability in the measurements: uterine wall thickness: ICC = 0.93 (95% CI, 0.90-0.96), P < 0.0001; indentation of the cavity: ICC = 0.93 (95% CI, 0.86-0.96), P < 0.0001; indentation of the fundus: ICC = 0.93 (95% CI, 0.90-0.96), P < 0.0001. Level of agreement in the classification: overall (U0, U1, U2, U3, U4, U5): k = 0.73 (95% CI, 0.61-0.84), P > 0.0001; U2 (U2a, U2b): k = 0.56 (95% CI, 0.31-0.80), P < 0.001 (0.78 observed agreement compared to 0.49 expected); U3 (U3a, U3b, U3c): k = 0.69 (95% CI, 0.16-1.00), P < 0.05 (0.85 observed agreement compared to 0.53 expected); U4 (U4a, U4b): k = 1.00 (95% CI, 1.00-1.00), P < 0.0001. CONCLUSIONS: Transvaginal 3D-US examination of the uterus allows assessment and classification of the UM by the ESHRE/ESGE criteria showing a good interobserver repeatability and reproducibility in most cases.

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.

Three-dimensional ultrasound and magnetic resonance imaging assessment of cervix and vagina in women with uterine malformations.

OBJECTIVES: To investigate the accuracy of three-dimensional ultrasound (3D-US) with respect to magnetic resonance imaging (MRI), and compared to clinical examination, in the assessment of cervix and vagina in women with uterine malformations. METHODS: In this prospective study, 16 patients diagnosed with uterine malformation with cervical involvement underwent 3D-US examination. The acquisition of cervical volumes was transvaginal, with four cases repeated in the peri-ovulation period, while vaginal volumes were acquired by transperineal imaging following filling of the vagina with gel. MRI was performed in 13 patients using endovaginal gel. All cases underwent clinical examination, comprising bimanual gynecological examination and speculoscopy. Diagnostic concordance of each of the methods with the gold standard was calculated. RESULTS: 3D-US cervical examinations revealed 12 cases of duplicate cervix, two of complete septate cervix and two of incomplete septate cervix. Images of the cervical canal in the peri-ovulation period were judged subjectively to be better in quality, but did not lead us to change any diagnosis. 3D-US vaginal examinations revealed four cases with a vaginal dividing wall and two with a blind hemivagina. None of the 3D-US findings contradicted the clinical findings of the cervix; however, clinically we observed two cases with vaginal dividing wall that had not been diagnosed with 3D-US. MRI diagnosed nine cases of duplicate cervix, three of complete septate cervix, one of incomplete septate cervix, five of vaginal dividing wall and two of blind hemivagina. One case diagnosed as complete septate cervix was in fact a duplicate cervix on 3D-US and on clinical examination. Compared with the gold standard, both 3D-US and MRI were highly efficient in the diagnosis of anomalies of the cervix and vagina. The overall diagnostic concordance of 3D-US with clinical examination (kappa, 0.84; 95% CI, 0.62-1) was slightly inferior to that of MRI with clinical examination (kappa, 0.9; 95% CI, 0.72-1), but this difference was not statistically significant. CONCLUSIONS: The acquisition of isolated cervical volumes, without including the uterus, defines the extent of the ectocervix and the limits of the cervical canal in uterine malformations. The use of endovaginal gel makes possible the diagnosis of associated vaginal anomalies with 3D-US.

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.

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.

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.

Three-dimensional ultrasound in the diagnosis of Müllerian duct anomalies and concordance with magnetic resonance imaging.

OBJECTIVES: To demonstrate the value of three-dimensional (3D) ultrasound in the diagnosis of uterine malformations and its concordance with magnetic resonance imaging (MRI). METHODS: This study included 286 women diagnosed with uterine malformation by 3D ultrasound, having been referred to our clinics on suspicion of uterine malformation following clinical and/or conventional two-dimensional ultrasound examination. With the exception of three with intact hymen, patients underwent both bimanual examination and speculoscopy before and/or after sonography. MRI was performed in 65 cases. We analyzed the diagnostic concordance between the techniques in the study of uterine malformations. RESULTS: Using 3D ultrasound we diagnosed: one case with uterine agenesis; 10 with unicornuate uterus, four of which also underwent MRI; six with didelphic uterus, one of which had MRI; 45 with bicornuate uterus, 12 of which had MRI; 125 with septate uterus (18 with two cervices), 42 of which had MRI (six with two cervices); 96 with arcuate uterus, three of which had MRI; and three with diethylstilbestrol (DES) iatrogenic uterine malformations, all of which had MRI. Among the 65 which underwent MRI, the diagnosis was: four cases with unicornuate uterus, 10 with bicornuate uterus (two with two cervices), 45 with septate uterus (five with two cervices), three with arcuate uterus and three with DES-related uterine malformations. The concordance between 3D ultrasound and MRI was very good (kappa index, 0.880 (95% CI, 0.769-0.993)). Discrepancies in diagnosis between the two techniques occurred in four cases. There was very good concordance in the diagnosis of associated findings (kappa index, 0.878 (95% CI, 0.775-0.980)), this analysis identifying differences in two cases. CONCLUSIONS: There is a high degree of concordance between 3D ultrasound and MRI in the diagnosis of uterine malformations, the relationship between cavity and fundus being visualized equally well with both techniques. 3D ultrasound should be complemented by careful gynecological exploration in order to identify any alterations in the cervix.

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.

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.

Diagnóstico prenatal del corazón univentricular / Prenatal diagnosis of univentricular heart

No disponible

Diagnóstico ecográfico de laholoprosencefalia / Echographic diagnosis of holoprosencephaly

La holoprosencefalia constituye un grupo de trastornos complejos que varían por su grado de severidad y que obedecen a la falta del desarrollo normal del cerebro anterior (prosencéfalo) durante la vida embrionaria temprana. Su etiología es heterogénea. La incidencia según las distintas series se sitúa en un 0,6/1.000 nacidos vivos. El conocimiento de la neuroanatomía evolutiva normal y anormal es esencial para identificar malformaciones específicas. Gracias al uso difundido de la ecografía prenatal cada vez se detectan más anomalías estructurales del neuroeje fetal. Una vez realizado el diagnóstico, se inicia el proceso de toma de decisiones que involucran al obstetra y a los futuros padres en elecciones difíciles en numerosas ocasiones. El manejo obstétrico dependerá de la edad gestacional en el momento del diagnóstico así como de la severidad de la anomalía. No obstante en la mayoría de los casos y ante la posibilidad de alteraciones psicomotoras en el desarrollo del recién nacido los padres suelen optar por la interrupción del embarazo. Además de realizar un repaso de los conceptos sobre la posible etiología, fisiopatología, diagnóstico, alteraciones asociadas y pronóstico fetal presentamos un caso de holoprosencefalia alobar y otro de holoprosencefalia semilobar diagnosticados en nuestro servicio durante el último año (AU)