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Publicaciones 2017

Bermejo C, Martínez-Ten P, Ruíz-López L, Estévez M, Gil MM. Classification of Uterine Anomalies by 3-Dimensional Ultrasonography Using ESHRE/ESGE Criteria: Interobserver Variability. Reprod Sci. 2017 Jan 1.


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 andclassification of the UM by the ESHRE/ESGE criteria showing a good interobserver repeatability and reproducibility in most cases.

Adiego B, Martínez-Ten P, Bermejo C, Estévez M, Recio Rodriguez M, Illescas T. J Matern Fetal Neonatal Med. 2017 Sep 4:1-10. Fetal intracranial hemorrhage. Prenatal diagnosis and postnatal outcomes.


OBJECTIVE: To present our experience with 14 cases of fetal intracranial hemorrhage (ICH).

METHODS: Cases of fetal ICH detected in our institution between 2005 and 2016 by ultrasonography. Maternal characteristics, ultrasound and MRI findings, and postnatal outcome were noted.

RESULTS: Twelve cases (86.7%) were identified during a third trimester routine scan at a median gestational age of 30.6 weeks. The ICH was classified as Grade 2 in two cases, Grade 3 in three cases, and Grade 4 in nine cases. Nine cases were bilateral and five were unilateral (four left/one right). The 11 MRI available confirmed grade and location and, in six cases (54.5%), added new findings. There were six terminations of pregnancy, one intrauterine fetal death and seven babies born alive. These were followed up for 28 months (range 3-96). Some grade of neurologic impairment was observed in five children (71.4%, one Grade 3/four Grade 4), mainly mild to moderate motor sequelae.

CONCLUSION: Diagnosis of fetal ICH is amenable to antenatal US. Most of the cases identified are of high grade and usually detected during the third trimester. MRI is a valuable complementary tool in evaluating ICH. Conversely to that previously reported, postnatal survival is high but it entails the risk of adverse neurologic outcome in most neonates.

Sepulveda W, Wong A E, Martinez-Ten P, and Tonni G (2017). Evaluation of the fetal face in the first trimester. En: Tonni G, Sepulveda W and Wong AE Editors. Prenatal diagnosis of Orofacial Malformations (pp 19-41). Switzerland: Springer.

Evaluation of the fetal face during the first trimester of pregnancy is a relatively new area of research in Fetal Medicine. The first attempts to examine the fetal face in early pregnancy were performed using transvaginal or transabdominal embryofetoscopy in the early 1990s. Although this invasive technique allowed the early diagnosis of facial abnormalities in several high-risk cases, the high rate of miscarriage made this approach unacceptable for diagnostic and therapeutic purposes in ongoing pregnancies. Currently, the use of this technique is confined to confirm ultrasound diagnosis before first- trimester termination of pregnancy.

Ultrasound has been the primary diagnostic tool for prenatal examination of the fetal face for more than 30 years. The prenatal ultrasound diagnosis of cleft lip and palate (CLP) was first reported in 1981, the ultrasound technique for examining the fetal upper lip to improve the detection of CLP was first described in 1983 [9], and detailed ultrasound features of the fetal face in second- and third-trimester fetuses were fully described in the mid-1980s. Nevertheless, the 2003 American Institute of Ultrasound in Medicine (AIUM) Practice Guideline for the performance of an antepartum obstetric ultrasound examination, developed in collaboration with the American College of Radiology (ACR) and the American College of Obstetricians and Gynecologists (ACOG), did not include examination of the fetal face as part of the standard ultrasound examination. Currently, however, prenatal evaluation of the fetal face is an integral part of the routine second- trimester ultrasound examination as recommended by the AIUM, ACR, ACOG, Society of Radiologists in Ultrasound (SRU), and International Society of Ultrasound in Obstetrics and Gynecology (ISUOG). Although in these guidelines it is implicit that evaluation of the fetal face should include an attempt to visualize the upper lip for possible cleft lip anomaly, only the ISUOG guideline specifically states that this should include a focused visualization of the upper lip and, if technically possible, the profile, orbits, nose, and nostrils.

During the early development of high- resolution ultrasound, detection of facial abnormalities in the first trimester was reported only in a handful of cases, most of them detected incidentally or in a high-risk population undergoing an early scan because of a history of a previously affected infant or fetus. The relatively recent widespread incorporation of the first-trimester ultrasound screening for aneuploidy between 11 and 13 weeks of gestation has made it possible to detect structural anomalies in the general population in early pregnancy. Nevertheless, focused examination of the fetal face has been rarely included in the firsttrimester ultrasound scanning protocol even though one of the main criteria for the correct measurement of the nuchal translucency (NT) thickness and assessment of the nasal bone is the mandatory visualization of the fetal profile in the true midsagittal view of the face . Indeed, the 2013 ISUOG Practice Guidelines for performance of the first-trimester fetal ultrasound scan suggested that the fetal face is an optional structure to examine and failure to examine the face should not prompt further examination earlier than the second-trimester anatomy scan. On the other hand, evaluation of the face in the first trimester has been suggested to increase the detection rate of fetuses with aneuploidy, particularly those with trisomy 21. Indeed, ultrasound markers for aneuploidy involving the face, such as visualization of the nasal bone and measurement of the frontomaxillary facial angle, have been incorporated into the first-trimester ultrasound protocol with variable detection rates. Of note, despite the strong impact of the previously mentioned ultrasound markers in the first- trimester detection of aneuploid fetuses, which has led to the early diagnosis of trisomy 21 in numerous cases, the evaluation of the fetal profile did not improve the detection of CLP despite the similar incidence of these two conditions in the general population. In this chapter, we will discuss the main first- trimester ultrasound features of the normal and abnormal fetal face. Ultrasound examination of the fetal face using both the sagittal and coronal views, as well as the role of three-dimensional (3D) ultrasound in the assessment of the normal lip and palate and in the diagnosis of orofacial clefts and other common facial malformations that are potentially diagnosable at the first-trimester ultrasound scan at 11-13 weeks of gestation, will be emphasized. As clefts of the soft palate are not currently possible to detect in the first trimester, this particular topic will not be covered in this chapter.

Martinez-Ten P, Sepulveda W, Wong AE , and Tonni G (2017). The role of 2D/3D/4D ultrasound in the prenatal assement of cleft lip and palate. En: Tonni G, Sepulveda W and Wong AE Editors. Prenatal diagnosis of Orofacial Malformations (pp 43-59). Switzerland: Springer.

Orofacial clefting is a significant abnormality because it can be associated with other structural anomalies, chromosomal disorders, and genetic syndromes. The frequency is high, occurring in about 1 in every 700 live births. Due to the visible nature of the abnormality, the parents are often significantly emotionally affected. The children born with defects of the hard palate have difficulties with feeding, ear infections and loss of hearing, difficulties and delay in speaking, and dental problems. These children require complex surgery. As a result of improvements in ultrasound technology and the routine use of this technique in standard clinical practice, orofacial clefting (with or without associated abnormalities) is being diagnosed in the prenatal period with increasing frequency. The rate of detection, especially of the cleft lip with or without cleft palate (CL/CLP), has risen from 5 % in the 1980s to 26 % in 1990 and was most recently reported to be as high as 65 %. Although there have been many classification systems of clefts described in the literature, none have been universally accepted. The current trend is to classify them as cleft lip (CL), cleft lip- palate (CLP), cleft palate (CP), or medial fissures. Many classifications are modifications of the Y system of Kernahan, which defines the lips, primary palate, and secondary palate (hard and soft). The LAHSAL system proposed by Kriens in 1989, also a modification of Y of Kernahan, is very common, easy to use, and excellent for teaching purposes . It is the system of classification that our department currently uses. A specific prenatal description of the cleft is useful to counsel the parents on the prognosis and to plan the surgical procedures to be performed on the neonate. Furthermore, because the newborn with CLP requires the involvement of a multidisciplinary team of healthcare professionals, an accurate and precise description of the defect is essential to optimize coordination of care to achieve a favorable outcome.

The role of prenatal ultrasound is to diagnose the cleft, establish the extent of the lesion, and diagnose any associated abnormalities, both structural and chromosomal.

Martinez-Ten P, Sepulveda W, and Tonni G (2017). Ultrasound of the fetal face in Genetic Syndromes. En: Tonni G, Sepulveda W and Wong AE Editors. Prenatal diagnosis of Orofacial Malformations (pp 61-79). Switzerland: Springer.

Clinical dysmorphology is the study of rare syndromes that accompany malformations and/or phenotypic abnormalities. Around 2500 dysmorphology syndromes or malformations have been described, the great majority accompanied by mental retardation. Combinations of small phenotype variations characterize a large number of them, without there being a principal malformation. The examination of the face and, to a less extent, the extremities is the element that most often determines the diagnosis. Progress in prenatal diagnosis and, inparticular, the development of three-dimensional (3D) ultrasound is facilitating dys morphography examination of the fetus. The dysmorphology analysis requires a sonologist with experience in rare syndromes as well as an extensive knowledge. In utero, this focus can only be achieved in a multidisciplinary field combining, if possible, the participation of an expert sonologist in the field of normal fetal face and an expert in dysmorphology. A thorough evaluation including family history, fetal biometry, study of stages of psychomotor development of the relatives, outcomes of para-clinical tests, and examination of the parents should be performed. The dysmorphology examination should be an additional diagnostic tool in prenatal study. In particular, the systematic examination of the face can reveal abnormalities that could provide key clues in the diagnosis of fetal diseases and syndromes. The study of the fetal face needs to be systematic in order to identify malformations (cleft lips, ocular abnormalities, etc.), but the dysmorphology examination needs to be a dedicated test similar to echocardiography or neurosonography that assesses whether an abnormality is isolated or occurs in association with other abnormalities as part of a possible syndrome.

Although prenatal dysmorphology can help us in the diagnosis of syndromes that have a high impact on parents, healthcare professionals, and in overall society, we must be very cautious. Experts in neonatal dysmorphology often dely diagnosing a rare disease for years despite being able to perform a direct physical evaluation and a wide variety of diagnostic tests.

We must not forget that many phenotypic variations such as of the limbs, face, and ears, when isolated, may not have any pathologic significance and care needs to be taken not to cause unncessary parental anxiety.

José M. Puente, Juan L. Alcázar, Pilar Martinez-Ten, Carmina Bermejo, María T. Troncoso, Juan A. García-Velasco. Interobserver agreement in the study of 2D and 3D sonographic criteria for adenomyosis. J Endometr Pelvic Pain Disord 2017; 9(3): 211 - 215


To study the degree of interobserver agreement for already known two-dimensional (2D) and three-dimensional (3D) sonography criteria of adenomyosis. Fifty cases (25 adenomyosis cases, 25 non-adenomyosis cases) were studied by four expert observers and a less-experienced researcher. Each sonographic adenomyosis criterion was separately studied. Interobserver agreement was analysed by the kappa index with 95% confidence interval (CI).

The degree of agreement about diagnosing adenomyosis was high or very high in all pair-wise comparisons (kappa values of 0.58-0-92).

The agreement on identifying intra-myometrial cysts (kappa values of 0.46-0.79) and evaluating the junctional zone (JZ) by 3D-transvaginal ultrasound (3D-TVS) (kappa index of 0.46-0.88) was good. The agreements reached when evaluating the other criteria varied, but good agreement was generally reached.

Both the 2D-TVS and 3D-TVS criteria employed in diagnosing adenomyosis were reproducible parameters in adenomyosis diagnostics. The results were reproducible, even by a less experienced observer.


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