Rol de los marcadores ecográficos secundarios de primer trimestre para la detección de trisomía 21 / Role of first trimester secondary ultrasound markers for trisomy 21 detection

OBJETIVO: Analizar los resultados de los marcadores ecográficos secundarios (hueso nasal, onda a del ductus venoso y regurgitación tricuspídea) y valorar su efectividad para la detección de trisomía 21 y su utilidad para la reducción del número de pruebas invasivas. MÉTODOS: Tras la realización del test combinado de primer trimestre a toda paciente con un riesgo entre 1/101-1/1000 se realizó la valoración de los marcadores secundarios. RESULTADOS: Desde Enero de 2014 a Mayo de 2015 se realizaron 2.660 test combinados del primer trimestre valorándose la edad materna, la traslucencia nucal y la PAPP-A y ßhCG, teniendo una sensibilidad del 90% y una tasa de falsos positivos del 3,2%. Hubo 10 fetos con trisomía 21. La sensibilidad de hueso nasal, ductus venoso y regurgitación tricuspídea fue del 22,2%, 50% y 50% y la especificidad del 99,8%, 96,9% y 98,8% respectivamente. La sensibilidad global del test contingente fue del 90%, con una reducción de la tasa de falsos positivos al 1,6%, lo que se reduciría de 171 a 148 el número de amniocentesis. CONCLUSIÓN: El test contingente es una buena herramienta para reducir la tasa de falsos positivos respecto al test combinado sin disminuir la tasa de detección y con ello reducir la tasa de pruebas invasivas.

AIMS: To analyze the results of the secondary sonographic markers (nasal bone, wave ductus venosus and tricuspid regurgitation) and evaluate its effectiveness for the detection of trisomy 21 and thus reduce the number of invasive tests. METHODS: After completing the first trimester combined test, all patients with a risk between 1/101-1/1000 were evaluated the secondary sonographic markers. RESULTS: From January 2014 to May 2015 2660 combined test being assessed maternal age, nuchal translucency and PAPP-A and ßhCG were performed, with a sensitivity of 90% and a false positive rate of 3.2%. 10 fetuses with trisomy 21 were observed. The sensitivity of nasal bone, ductus venosus and tricuspid regurgitation was 22.2%, 50% and 50% and specificity was 99.8%, 96.9% and 98.8% respectively. The overall sensitivity of contingent test was 90%, with a reduction in false positive rate to 1.6%, which would decrease the number of amniocentesis from 171 to 148. CONCLUSION: The contingent test is a good tool to reduce the rate of false positives with respect to the combined test without decreasing the detection rate and thereby reduce the rate of invasive testing.

Clinical value of prenatal ultrasonography in diagnosis of fetal abnormalities in fertilization-embryo transfer during early trimester / 第二军医大学学报

Objective To evaluate the value of prenatal ultrasonography in diagnosis of in vitro fertilization-embryo transfer (IVF-ET) fetal abnormalities during early trimester. Methods A total of 685 IVF-ET pregnant women received Doppler color ultrasound in our hospital during 11-13+6 weeks of pregnancy from January 2010 to December 2010; the number of fetal, polyembryony chorion, and gestational age were examined; and the abnormal structures were screened. Based on findings of sonographic markers, chorionic villi sampling was done for some fetals. Amniocentesis or selective reduction was done when triplet or one of the twins found with lethal abnormality. All the cases were followed up for pregnancy process and clinical results. Results Among the 685 IVF-ET pregnant women, 440 had singleton pregnancy (64. 23%), 244 had twin pregnancy (35. 62%), and only one had triplet pregnancy (0. 15%). Seven fetal abnormalities were detected in singleton pregnancies during early trimester, and five cases were clinically confirmed. Six fetal abnormalities were detected in twin pregnancies during early trimester, and three cases were clinically confirmed. Excluding the triplet pregnancy, the total incidence rate of abnormal fetal was 0. 86%(8/928), with two cases confirmed by chromosomal abnormality screening and two cases receiving selective reduction operation. Conclusion Standardized prenatal ultrasonography during early trimester(11-13+6 weeks) can improve the accurate screening rate of fetal abnormalities for IVF-ET pregnancy, and can help to deal with multiple pregnancy and abnormal fetals.

Recent advances in obstetrical ultrasound / 대한산부인과학회지

An obstetrical ultrasound examination provides invaluable information regarding the fetus. Many publications from the last years have advanced the use of ultrasound in obstetrics. With the advent of high-resolution ultrasound and transvaginal scanning, a significant amount of information about the fetus have been gained, and provided to the patient. It must be emphasized to evaluate the fetus for structural malformations, and searches for the sonographic markers of fetal aneuploidy in first trimester because it allows the early diagnosis of many conditions. The presence of sonographic markers including the nuchal fold, short femur and humerus, pyelectasis, hyperechoic bowel, echogenic intracardiac focus, and any major abnormality, either singly or in combination, will raise the baseline risk of aneuploidy using likelihood ratios calculated for each individual marker. Fetuses with abnormal Doppler velocimetry in the uteroplacental, umbilical, and fetal circulations but normal chromosomes are at higher risk for adverse pregnancy outcome, including preeclampsia and growth restriction. Improved technology has lowered the gestational age at which fetal cardiac anatomy scanning can be reliably performed by properly trained and experienced examiners. Early fetal echocardiography can be offered as a screening examination to at-risk and low-risk patients, with the condition that it be repeated following screen-negative scans at mid-gestation to exclude later developing lesions. This review describes the recent advances in the role of first trimester ultrasound in screening and diagnosis of fetal anomalies, a number of new ultrasound markers for fetal aneuploidy, Doppler ultrasonography, and fetal echocardiography.