Ultraschall in Der Medizin最新文献

Since the first intrauterine interventions were carried out in the 1970 s under what today would be considered basic conditions, the range of prenatal interventions has steadily expanded, as has the frequency with which these interventions are carried out at specialized centers. Although most of these procedures are minimally invasive, they are invariably associated with considerable risks for the fetus and, depending on the surgical method, also for the expectant mother. For this reason, most centers worldwide limit themselves to interventions for fetal diseases which, if untreated, have a fatal course or experience a significant deterioration in the postnatal prognosis during the course of intrauterine development. This is all the more significant as only a small proportion of prenatal interventions have been successfully investigated in controlled clinical trials. The only exceptions are laser therapy for feto-fetal transfusion syndrome, intrauterine closure of spina bifida, and tracheal occlusion for diaphragmatic hernia with severe pulmonary hypoplasia. This article is intended to provide an overview of the fetal conditions that are candidates for intrauterine therapy and of the evidence for the individual interventions.

To explore the relationship between ultrasound signs of suspected fetal malformation of cortical development (MCD) and genetic MCD.The retrospective study involved fetuses with one of the following 10 neurosonography (NSG) signs: (A) abnormal development of the Sylvian fissure; (B) delayed achievement of cortical milestones; (C) premature or aberrant appearance of sulcation; (D) irregular border of the ventricular wall or irregular shape of the ventricle; (E) abnormal shape or orientation of the sulci; (F) hemispheric asymmetry; (G) non-continuous cerebral cortex; (H) intraparenchymal echogenic nodules; (I) persistent ganglionic eminence (GE) or GE cavitation; (J) abnormal cortical lamination.95 fetuses were included in the study. Chromosomal microarray (CMA) combined with exome sequencing (ES) was available in 40 fetuses, CMA was abnormal in nine and ES in 22. Sign C (7/7, 100%), sign H (2/2, 100%), sign A (18/19, 94.7%), and sign B (12/13, 92.3%) were the signs leading to the highest probability of genetic MCD. The incidence of genetic MCD for sign E, sign I, and sign D was 66.7-73.7%. Only one or none of the fetuses with sign J, sign F, or sign G underwent CMA+ES. The signs in the fetuses with FGFR3, CCND2, FLNA, or TSC2 mutations had the expected features. The other fetuses with different gene mutations showed several non-specific NSG signs.Several reliable signs for genetic MCD can be detected by NSG, and the probability varies with different signs. Most signs are not associated with a specific gene. Therefore, CMA combined with ES is preferred.

Aortic arch branching variants have recently been found to have an impact in neonates undergoing surgical interventions involving the thoracic aorta such as aortic coarctation repair. They have been described prenatally in 6% of neonates, whereas they occur in up to 26% postnatally. To explore whether the branching variations might have been underdiagnosed in utero, we comprehensively assessed the aortic arch and its branching patterns in a low-risk population between the 19^th and 22^nd week of gestation.This prospective cohort study included 139 low-risk singleton pregnancies. During a standardized fetal echocardiography examination, we investigated the aortic arch in a sagittal view according to predefined landmarks. Based on video clips, its branching pattern was categorized as normal branching or branching variants by 2 operators who were blinded to each other.Classification of aortic arch branching was achieved in 127/139 cases (91.4%). 103 cases (81.1%) showed a normal pattern, and 24 cases (18.9%) showed a branching variant. Both operators agreed on 18 brachiobicephalic trunks (the so-called bovine arch), 4 aberrant left vertebral arteries, 1 aortic arch with 5 branching vessels. In 1 case there was disagreement regarding the type of variant.Prenatal targeted echocardiography could identify 18.9% prevalence of aortic arch branching variants in a low-risk population. Future studies are warranted to assess the clinical impact of our findings on neonates with congenital heart defects.

During embryogenesis, the vertebrae begin development during the 6th week of gestation via two lateral chondrification centers per segment. It was assumed that when disruptions occur in the process of somitogenesis during membranous vertebral body formation, chondrification and ossification will follow the anomalous membranous vertebral body scaffolding, resulting in an anomalous vertebral formation, such as a hemivertebra. Another hypothesis is that hemivertebra may result from anomalous distribution of intersegmental arteries of the vertebral column. There is no description in the medical literature of "excess linear calcifications" of part of the fetal vertebra, characterized by the presence of linear calcifications in the vertebrae of a developing fetus. In the first two trimesters of pregnancy, the fetal vertebrae usually show three calcified points in an axial section: the vertebral body and two transverse processes. Premature linear vertebral calcification was defined as an anterior or posterior echogenic connection between two of the points (Fig. 1). In this study, we describe seven cases of premature fetal linear vertebral calcification.