Application of a Global Multiparameter Scoring System for the Prenatal Prediction of Coarctation of the Aorta.

To assess prospectively the capability of our previously reported global multiparameter scoring system to predict coarctation of the aorta (CoAo) in fetuses with cardiac asymmetry, we applied and analyzed the performance of our scoring system in predicting postnatal CoAo in fetuses undergoing prenatal echocardiographic assessment because of cardiac asymmetry between 2011 and 2021, and we determined the cut-off points of the score with the best balance between specificity and sensitivity, and of maximum sensitivity and specificity. CoAo was confirmed in 39/179 newborns (21.8%). We found a significantly higher probability of CoAo in fetuses with CoAo than in cases without CoAo (84.2 ± 18.2% vs. 26.0 ± 28.6%, p < 0.001). The AUC of the ROC of the score was 0.93 (95% CI 0.89-0.97). The cut-off value with the best balance between specificity and sensitivity was a predicted risk of ≥53% (sensitivity 92.3% and specificity 80.0%). The cut-off point of maximum sensitivity was ≥35% (sensitivity 100% and specificity 72.9%), and that of maximum specificity was ≥96% (sensitivity 43.6% and specificity 96.4%). In none of the fetuses with a probability of CoAo < 35% was this condition confirmed after birth. This occurred in 102 fetuses in the whole study population (57%) and in 84 of the 111 in whom CoAo was suspected beyond 28 weeks (75.7%). This multiparameter score allows an adequate discrimination between fetuses without CoAo and those with CoAo, reducing the false positive diagnoses in cardiac asymmetry.

Cardiopatías congénitas y cromosomopatías en vida fetal: ¿siempre cariotipo? / Congenital heart defects and chromosomal anomalies in fetal life: should a chromosomal study always be offered?

Objetivos: Analizar la relación entre las cardiopatías congénitas (CC) y las cromosomopatías en vida fetal. Método: Estudio retrospectivo realizado en un centro terciario de referencia. Seleccionamos las CC diagnosticadas prenatalmente entre 1990 y 2011, con verificación posnatal del diagnóstico y con información disponible del cariotipo. La recomendación de realizar técnica invasiva prenatal para estudio del cariotipo dependió del tipo de CC y de la existencia de otros factores de riesgo de cromosomopatía. Resultados: Se analizaron 1.384 CC. El cariotipo se estudió prenatalmente en 848 (61,3%) y en el resto o se estudió posnatalmente (172; 12,4%) o se excluyó clínicamente la presencia de cromosomopatía por la ausencia de marcadores clínicos indicativos de aquella (364; 26,3%). Existía una cromosomopatía en 363 CC (26,2%). El diagnóstico fue prenatal en 324 (89,3%) y posnatal en 39 (10,7%). En estos casos no se realizó el estudio prenatal del cariotipo principalmente por la negativa de los padres (n = 28). La CC que mostró mayor asociación con cromosomopatías fue el canal aurículo-ventricular (66,7%). Esta asociación fue nula en algunas CC como la transposición de grandes arterias o el ventrículo único. Lo mismo sucedió en la atresia tricúspide aislada y en los síndromes de heterotaxia sin anomalías ajenas a las que forman parte del síndrome. Conclusiones: Aun siendo enormemente relevante la información del cariotipo en los fetos con CC para la toma de decisiones de los padres y el pronóstico del paciente, la recomendación de dicho estudio ha de individualizarse según las características de cada caso, pudiendo evitarse los riesgos de la técnica invasiva diagnóstica en muchos casos(AU)

Objectives: To assess the relationship between congenital heart defects (CHD) and chromosomal abnormalities in fetal life. Methods: This is a retrospective study undertaken at a tertiary care referral center. Our database was queried for cases of CHD prenatally diagnosed between 1990 and 2011, with postnatal diagnostic verification, as well as information available as regards the karyotype. The recommendation for performing fetal invasive procedures relied upon the type of CHD and the presence of associated high-risk factors of chromosomal disease. Results: A total of 1,384 CHD were retrieved and analyzed. The karyotype was studied prenatally in 848 (61.3%) and in the rest was either studied postnatally (172, 12.4%) or the presence of chromosomal disease was clinically ruled out given the absence of suggestive clinical markers (364, 26.3%). Chromosomal defects were diagnosed in 363 CHD (26.2%). The diagnosis was made prenatally in 324 (89.3%), and after birth in 39 (10.7%). In most of these cases (n = 28) the parents refused fetal invasive testing. We found that atrioventricular septal defect was the CHD most associated with chromosomal abnormalities (66.7%). On the contrary, we did not observe any chromosomal defect in CHD, such as transposition of large arteries or single ventricle. Similarly, there was no abnormal karyotype in isolated tricuspid atresia or in heterotaxy syndromes presenting without anomalies other than those typically included in the disease. Conclusions: Karyotype analysis is highly relevant in fetuses with CHD, given its impact in the parental decision-making process and patient outcome. Nevertheless, the recommendation of performing fetal invasive testing should be based on the individual characteristics of any given case, and in many cases the risks associated with the invasive procedure could be avoidable(AU)

[Prenatal diagnosis of isolated otocefalia. Usefulness of three-dimensional ultrasound]. / Diagnóstico prenatal de otocefalia aislada. Utilidad de la ecografía tridimensional.

Otocephaly is a rare and lethal congenital malformation characterized by the presence of agnathia, microstomia, aglossia and synotia. Despite its frequent association with severe malformations, diagnosis in the few published cases is usually made at III trimester. In this case, three-dimensional ultrasound scan was performed in a Chinese primigravida with no remarkable personal nor familiar history since mandible was difficulty visualized with two-dimensional sonography at 21 weeks of gestation. Multiplanar and rendering mode showed the typical cervicofacial features of otocephaly without associated malformations. After parental counselling, they opted for termination of pregnancy and necropsy confirmed our prenatal findings. Our case shows the usefulness of three-dimensional ultrasound in assessing fetal cervicofacial pathology. Volumetric capture allows a delayed study of fetal anatomy and multiplanar mode offers the reconstruction of views whose achivement is difficult with conventional 2D ultrasound. Surface rendering provides excellent spatial vision and enables parents to understand the severity of the malformation thus helping with their decisions.

Doppler de arterias uterinas y marcadores angiogénicos (sFlt-1/PlGF): futuras implicaciones para la predicción y el diagnóstico de la preeclampsia / Uterine arteries Doppler and angiogenic markers (sFlt-1/PlGF): future implications

La preeclampsia continúa siendo una de las principales causas de morbilidad y mortalidad materna y perinatal. A pesar de su repercusión, hasta ahora no ha habido métodos adecuados para detectarla de forma temprana y prevenir complicaciones. Las estrategias de selección basadas en la presencia de factores de riesgo maternos no resultan eficientes. El empleo del Doppler de arterias uterinas no se ha conseguido imponer en la práctica habitual, pero en combinación con los nuevos marcadores angiogénicos sFlt-1 y PlGF se convierte en una herramienta con gran potencial para la predicción y el diagnóstico temprano de la preeclampsia. En este artículo se discutirá la oportunidad de trasladar a la clínica diaria el estudio Doppler de arterias uterinas y los marcadores angiogénicos sFlt-1 y PlGF en función de los datos conocidos a través los estudios realizados recientemente(AU)

Pre-eclampsia remains a principal cause of maternal and perinatal morbidity and mortality. Despite its repercussions, so far there have been no methods for early diagnosis and prevention of complications. Selection strategies based on the presence of maternal risk factors are not efficient. The use of uterine artery Doppler has not been accepted in routine practice, but in combination with new angiogenic markers sFlt-1 and PlGF it becomes a very powerful tool for the prediction and early diagnosis of pre-eclampsia. This article will discuss the challenge of transferring the study of uterine artery Doppler and angiogenic markers sFlt-1 and PlGF to daily clinical practice in the light of the available data from recent studies(AU)