Background:The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown. Methods: We studied a series of 10 antenatal cases in whom the diagnosis of CHARGE syndrome was suspected, considering that a careful pathological description would shed light on the CHD7 function during development. CHD7 sequence analysis and in situ hybridisation were employed. Results: The diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation. Interestingly, arhinencephaly and semi-circular canal agenesis were two constant features which are not included in formal diagnostic criteria so far. In situ hybridisation analysis of the CHD7 gene during early human development emphasised the role of CHD7 in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome. Conclusions: These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.
Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis.
Depending on the general condition of fetal remains, forensic specialists might face difficulties concerning age estimation. Reference tables and regression equations are helpful devices in this task, although they are generally applied for complete fetuses or fetal remains including soft tissues. However, the problem of age estimation stays for osseous remains, both for entire bones and ossified parts, since most of the reference tables come from ultrasonographic measurements, which are not easily reproducible on fetal osseous remains. Furthermore, the ultrasonographic measurements contain slight errors in comparison to the real anatomical ones. This study describes a radiographic protocol and a measurement technique that facilitate and improve bone measurements, and therefore, facilitate age estimation, too. A qualitative criterion, namely a clear-cut bony endplate, was defined and tested. Its reliability (repeatability and reproducibility) turned out to be good, showing nonsignificative differences to the threshold of 0.05, with average errors of 0.26 and 0.44 mm respectively. Moreover, concerning the test of eventual size differences between the right and left femurs showed a P value < 0.0001. The test of the qualitative criterion was based on the comparison of the radiographic in situ femur measurements and the radiographic measurements of the same bones after dissection. The results were satisfactory, since an average error of 0.58 mm was obtained, which did not give any significant differences to the threshold of 0.05. It was concluded that this methodology provides an easy and precise new measurement tool for forensic practice, and can allow us to establish some nonultrasonographic tables, which fit our population.
We report three cases of left ventricular aneurysm diagnosed prenatally and followed by fetal Doppler echocardiography. A review of the literature reveals a paucity of information about this rare cardiac malformation. Most of the described cases (6 out of 9) have remained asymptomatic during pregnancy and after birth. Our cases, in contrast, and three others in the literature, had an ominous prognosis presenting cardiac failure initially or during follow up and showing a dynamic evolution of the aneurysm. Cross-sectional echocardiography provides the diagnosis, revealing the thin-walled aneurysm, usually apical, to be connected by a broad neck to the left ventricle. Color and pulsed Doppler shows low velocity and to-and-fro flow in the aneurysm. Sequential fetal Doppler echocardiography detects the potential growth of the aneurysm relative to ventricular size, revealing any compromise of cardiac performance by a decreased mitral opening, reversed atrial shunting, a hypokinetic infero-posterior left ventricular wall, and a poor systolic thickening of the wall of the aneurysm. Compromise of cardiac function, and deleterious impact on development of the lungs during fetal life, may depend on the early onset, growth and location of the aneurysm,which may occupy most of the fetal chest. We discuss issues of prenatal diagnosis, sequential surveillance of the natural history, and factors of prognosis as well as myocardial histological data from one of our cases.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2025 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.