Prenatal Ultrasound Diagnostics of Hydrocephalus and CNS Anomalies

1979 ◽  
Vol 10 (S 01) ◽  
pp. 453-454
Author(s):  
T. Valkeakari ◽  
P. Ylöstalo ◽  
P. Kirkinen ◽  
P. Jouppila
2021 ◽  
Author(s):  
Ann Gee Tan ◽  
Neha Sethi ◽  
Sofiah Sulaiman

Abstract Objective: To study the prognostic outcomes of fetuses with prenatally diagnosed central nervous system (CNS) anomalies and describe the obstetric management for those fetuses.Methods: In this retrospective study, fetuses who were detected to have central nervous system by prenatal ultrasound from January 2010 to December 2019 were recruited. Data regarding prenatal diagnosis and obstetric outcome were retrieved from maternal and paediatric records. Prognosis of children who survived till delivery was classified based on their neurodevelopmental outcome within 2 years of life.Results: 365 fetuses were prenatally diagnosed with CNS malformations within the 10-year study period, at a mean gestational age of 24.65±7.37 weeks at diagnosis. Ventriculomegaly (23.36%) was the commonest CNS anomalies diagnosed antenatally. 198 (54.20%) fetuses has associated extra-CNS anomalies, with cardiovascular system being the most common organ system involved with CNS anomalies. Karyotyping was performed in 111 pregnancies, with chromosomal aberrations detected in 53 (49.07%) cases and culture failure in 3 cases. Edward syndrome and Patau syndrome were commonly associated with CNS anomalies. Fetuses with congenital CNS anomalies and abnormal chromosomal karyotyping more likely to be diagnosed earlier by prenatal ultrasound and tend to have poorer obstetric and neurocognitive prognosis. Among the 279 cases whom their pregnancy outcomes were available, 105 (37.63%) pregnancies were electively terminated, 35 (12.54%) pregnancies ended in spontaneous loss while the remaining 139 (49.82%) cases resulted in live births. The decision of TOP largely depends on mean diagnostic gestational age, presence of chromosomal aberrations and abnormal amniotic fluid volume in those fetuses. Ruling out 21 (15.11%) cases which were lost to 2-year follow-up, only 75 (53.96%) infants were still alive by the age of 2 years. Only 32 (23.02%) children with prenatally diagnosed CNS anomalies had normal neurodevelopmental outcome. The presence of multiple CNS anomalies and involvement of extra-CNS anomalies indicated a poorer neurodevelopmental prognosis.Conclusion: Less than 50% of fetuses with prenatally diagnosed CNS anomalies resulted in live births. Even if they survive till delivery, majority passed away within 2 years or had neurodevelopmental disability.


2010 ◽  
Vol 47 (1) ◽  
pp. 15-21 ◽  
Author(s):  
M. Wenghoefer ◽  
M. Ettema Anke ◽  
F. Sina ◽  
A. Geipel ◽  
A.M. Kuijpers-Jagtman ◽  
...  

Objective To analyze the prenatal ultrasound findings of the craniofacial and extracephalic anatomy, the postnatal pathological findings, and the genetic anomalies in 51 cases of holoprosencephaly (HPE). Materials and Methods Between 1990 and 2005, a collective of 51 fetuses with tentative ultrasound diagnosis of HPE was recruited at two tertiary referral centers for prenatal ultrasound diagnostics via the Pia Fetal Database (GE Medical Systems, Webling, Germany). Cephalic as well as extracephalic anomalies were investigated, and all cases were subdivided into the subgroups lobar, alobar, and semilobar HPE. In addition to the ultrasound investigation, 45 fetuses were analyzed for genetic anomalies and 21 fetuses underwent an autopsy. Results The average age at diagnosis was 21.9 weeks of gestation. There was a greater number of female fetuses, with an overall ratio of 2.67:1. In 61% of all cases, there was a reduction of growth in comparison with healthy fetuses of the same age. Within the second trimenon, the cephalic anomalies became evident when investigating the diameter of the fetal head (second trimenon: 71% below the fifth percentile; third trimenon: 92% below the fifth percentile). In 82% of the cases, extracephalic anomalies were diagnosed additionally. In 63%, the diagnosis of holoprosencephaly led to a termination of pregnancy. Ten percent of the fetuses were born alive. In 81% of the cases, the diagnosis of HPE was confirmed postnatally. The remaining 19% showed other severe cephalic and extracephalic anomalies. Chromosomal anomalies were detected in 79% of the fetuses, most frequently trisomy 13 (59%). Discussion Because of recent advances in the development and improvement of high-resolution ultrasound, early diagnosis of congenital anomalies such as HPE is now possible. In this study, which represents the largest collection of prenatally diagnosed HPE reported in the literature to date, the average age at diagnosis was earlier than in other studies. The ultrasound devices of today provide excellent images of the fetus that allow an exact diagnosis of craniomaxillofacial anomalies as well as extracephalic anomalies. Apart from a very few cases, the diagnosis of HPE is incompatible with life.


Author(s):  
S.A. Puyda, M.M. Petrova

The corpus callosum pathology is associated with over 350 different congenital syndromes. In this article development of the main forebrain commissures in fetus ranging from 11 to 16 weeks of gestation at prenatal ultrasound are presented. This is the first sonographic study to describe the prenatal sonographic appearance of the main forebrain commissures in fetus and we speculate that cases with pathology of the corpus callosum and normal outcome might be result of the presence a residual interhemispheric connection.


Author(s):  
N.A. Àltynnik, M.V. Kubrina

Four cases of prenatal ultrasound diagnostics of rare lethal complexes diagnosed in the first trimester of gestation are presented. The nuclear signs of the anomaly of the stem of the body and the OEIS-complex are discussed. The difficulties of early ultrasound prenatal diagnosis, similarity and distinctive features characteristic of both complexes are analyzed.


2017 ◽  
Vol 5 (2) ◽  
pp. 26-35
Author(s):  
Nicolai Y. Rumyantsev ◽  
Igor Y. Kruglov ◽  
Gamzat G. Omarov ◽  
Dmitry V. Voronin ◽  
Natalia N. Rumiantceva

Background. Congenital dislocation of the knee (CDK) is a rare abnormality of the musculoskeletal system, with an incidence of 1 per 100,000 liveborn infants. Timely prenatal diagnostics and treatment during the initial days of life can help avoid the development of disabilities in a child. Aim of the study. We aimed to study the possible prenatal ultrasound diagnostics and to assess the efficacy of early orthopedic alignment using conservative methods of treatment. Materials and methods. From January 1988 to February 2016, 37 newborns (50 lower limbs) with CDK were treated. The initial assessment of the affected limbs was performed immediately after birth. To determine the severity of dislocation, the Seringe and Tarek classifications were used. Conservative treatment was performed for all the patients. The age of pediatric patients at the time of treatment onset ranged from 2 hours to 5 days. Various methods were used, such as stage plaster bandages (10 lower limbs) and correction using the von Rosen splint (8 lower limbs). Since 2003, a single treatment protocol, developed by the authors of this study, has been applied. Results. The prenatal ultrasound screening enabled the detection of CDK before birth in 21% of cases. Long-term results (catamnesis from 3 to 28 years) were evaluated by the Seringe scale and were excellent in 60%, good in 32%, and satisfactory in 8% of cases. Bad results were not registered. All the pediatric patients included in the study began to walk independently at the age of 9–18 months. Conclusion. Prenatal ultrasound diagnosis enables the detection of CDK. Treatment of newborns, started in the first hours of life, according to the protocol developed by the authors, enables the alignment of the dislocated lower leg in a short time, without using prolonged stage plaster bandages. Long-term results demonstrate the efficiency of the proposed methodology.


2020 ◽  
Vol 20 (5-6) ◽  
pp. 31-36
Author(s):  
Mikhail A. Postnikov ◽  
Regina B. Balter ◽  
Ludmila S. Tshelkovich ◽  
Irina E. Dufinets

The article is devoted to the current methods of diagnostics of the dental system of a pregnant womans fetus. The use of three-dimensional ultrasonography in pregnant women based on prenatal ultrasound screening opens up new opportunities for preventing serious maxillofacial deformities. The results of our own research allowed us to establish the links and quantitative dependencies for identifying malocclusion risk groups. Literature data on the use of fetal ultrasound diagnostics to assess the state of the fetal dental system are analyzed.


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