Sepulveda W, Illescas T, Adiego B, Martinez-Ten P. "Prenatal Detection of Fetal Anomalies at the 11-to 13-Week Scan- Part I: Brain, Face and Neck. Donald Schooll Journal of Ultrasound in Obstetrics and Gynecology. October-December 2013:7 (4):359-368.
ABSTRACT
In the last 20 years, the role of first-trimester ultrasound screening has expander from individual calculation of the risk of aneuploidy through measurement of the nuchal translucency to a powerful technique to evaluate important aspects of the fetal anatomy. Traditionally the full anatomy scan for detection of structural anomalies has been performed in the second trimester of pregnancy. However, witch the implementation of the first-trimester scan at 11 to 3 weeks of gestation many of the structural anomalies traditionally detected in the second trimester can now be identified earlier in pregnancy. In the first part of this review we discuss the main ultrasound findings that may facilitate the prenatal detection of fetal brain, face and neck abnormalities in the first trimester of pregnancy.
Martintez-Ten P, Espinosa A, Gallo M. (2013). Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal. Caracas, Venezuela. Almoca.
Bermejo C, Santacruz B. Bases de la ecografia tridimensional. Técnica de obtención. Navegación multiplanar. Procesado de la imagen. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 30-38). Caracas, Venezuela. Almoca.
Martinez-Ten P, Gómez Ruíz ML, Santacruz B. Sonoembriología. Aportación de la ecografia 3D. (2013) En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 64-77). Caracas, Venezuela. Almoca.
Adiego Burgos MªB, Gómez Ruíz ML. El estudio morfológico fetal durante el primer trimestre. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 99-119). Caracas, Venezuela. Almoca.
Martínez-Ten P, Adiego Burgos ML, Recio Rodriguez M. Neurosonograma normal. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 121-148). Caracas, Venezuela. Almoca.
Adiego Burgos MB, Antolín Alvarado E. Malformaciones del Sistema nervioso central. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 149-185). Caracas, Venezuela. Almoca.
Martínez-Ten P, Illescas Molina T, Bermejo López C, Sepulveda W. Malformaciones de la cara y fisuras labiopalatinas. Diagnóstico sindrómico de las malformaciones faciales. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 233-276). Caracas, Venezuela. Almoca.
Adiego Burgos MB, Anomalías congénitas del riñón y tracto urinario y genital. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 352-373). Caracas, Venezuela. Almoca.
Soler Ruiz P, Martínez-Ten P. Malformaciones de las extremidades. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 373-385). Caracas, Venezuela. Almoca.
Maresca Amate D, Gómez Ruis ML. Displasias óseas. Aportación de la ecografia 3D al diagnóstico. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 388-398). Caracas, Venezuela. Almoca.
Bermejo López C. Teratoma Sacrocoxígeo. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 400-408). Caracas, Venezuela. Almoca.
Illescas Molina T, Martínez-Ten P. Malformaciones del Sistema venoso abdominal fetal. (2013). En: Martintez-Ten P, Espinosa A, Gallo M editors. Ecografia Tridimensional (3D/4D) en el embarazo. Colección de Medicina Fetal y Perinatal (pp 409-427). Caracas, Venezuela. Almoca.
Martínez-Ten P, Adiego Burgos MB. Illescas Molina T, Recio Rodríguez M. Anomalías de la fosa posterior: Quiste de Blake, megacisterna magna, anomalías del vermis cerebeloso. (2013). En: Martínez Cortés L y Huertas Fernández MA Editors. Neurosonografía fetal patológica (pp 109-134). Santiago de Compostela, España. Fausto Diseño Asociados.
Illescas T, Fernández C, Ortega D, de la Puente M, Coronado P, Montalvo J.
Influence of gravidity and foetal gender on the value of screening variables in
the first trimester of pregnancy. Eur J Obstet Gynecol Reprod Biol. 2013 Mar;167(1):14-7.
OBJECTIVES: Combined screening for chromosome abnormalities in the first
trimester of pregnancy is based on maternal age, nuchal translucency (NT) and
biochemical markers (PAPP-A and free β-hCG). We sought to assess the value of the
variables used in the combined screening strategy taking into account maternal
gravidity and foetal gender.
STUDY DESIGN: Between July 1999 and December 2009, a total of 21,193 singleton
pregnancies were screened for aneuploidy in the first trimester, in the Hospital
Clínico San Carlos (Madrid, Spain). In the original database foetal gender data
were available in 4370 euploid cases, and there were 2343 women with at least two
consecutive pregnancies. We conducted a retrospective assessment of ultrasound
and biochemical markers taking into account foetal gender and maternal gravidity,
and evaluated the effect on the performance of screening, in terms of detection
rates and false positive rates. Information on pregnancy outcome was obtained
from the hospital's intranet medical records or by contacting the patient by
telephone postpartum. Karyotype was ascertained by amniocentesis or chorionic
villus sampling, and euploid status was assumed in newborns with normal
phenotype. Student's t-tests (paired or unpaired as appropriate) were applied to
the data, and the Bland-Altmann method was applied in evaluating individual
differences in markers between successive gestations.
RESULTS: PAPP-A decreased significantly between the first and the second
pregnancy (p<0.01). PAPP-A and free β-hCG values were significantly higher
(p=0.04 and p<0.01 respectively) and NT was lower (p=0.02) in pregnancies with a
female foetus.
CONCLUSIONS: Correlations between the biochemical variables in relation to
gravidity and foetal gender can introduce a bias in the calculated risk of
chromosome abnormalities. Differences in NT measurements with respect to foetal
gender do not seem to be of clinical importance. NT is independent of gravidity
so routine use of NT compensates for the influence of these maternal-foetal
variables on the values of biochemical parameters. Hence, the bias in overall
combined screening is small.
Maroto A, Illescas T, Meléndez M, Arévalo S, Rodó C, PeiróJL, Belfort M, Cuxart A, Carreras E. Ultrasound functional evaluation of fetuses with myelomeningocele: study of the interpretation of results. J Matern Fetal Neonatal Med. 2017 Oct;30(19):2301-2305.
OBJECTIVE: To assess the reliability of the interpretation of a new technique for
the ultrasound evaluation of the level of neurological lesion in fetuses with
myelomeningocele.
METHODS: Observational study including myelomeningocele fetuses, referred to our
center for the sonographic assessment of the fetal lower-limb movements, made and
recorded by an expert in Maternal-fetal medicine and a specialist in
Rehabilitation. Two observers, with different levels of expertise and blinded to
each other's results, interpreted each recorded scan two different times. The
agreement for the segmental levels assigned between the observers and the gold
standard, the inter-observer and intra-observer reproducibility were tested using
the weighed Kappa (wκ) index.
RESULTS: Twenty-eight scans were recorded and evaluated. The agreement between
the observers and the gold standard remained constant for the expert observer
(wκ=0.82) and increased (wκ=0.66-wκ=0.72) for the other one. The
inter-observer and the intra-observer variability for the expert observer were
wκ=0.72 and wK=0.94, respectively.
DISCUSSION: The agreement for the prenatal evaluation of the segmental
neurological level was excellent, after a short training period, for observers
with different degrees of expertise. The interpretation of this technique is
reproducible enough and this supports its value for the prediction of postnatal
motor function in myelomeningocele fetuses.