Aspects of prenatal ultrasound diagnostics of fetal commissural pathology. Part I: normal development (the corpus callosum and other major telencephalic commissures)

2021 ◽  
Author(s):  
S.A. Puyda, M.M. Petrova
Keyword(s):  
Corpus Callosum ◽  
Normal Development ◽  
Prenatal Ultrasound ◽  
Sonographic Appearance ◽  
Ultrasound Diagnostics ◽  
Normal Outcome ◽  
Interhemispheric Connection

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.

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
Keyword(s):  
Prenatal Ultrasound ◽  
Ultrasound Diagnostics ◽  
Cns Anomalies

Neurological and clinical outcomes in infants and children with a fetal diagnosis of asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum

2021 ◽  
pp. 1-5
Author(s):  
Natalie Limoges ◽  
Betsy Ostrander ◽  
Anne Kennedy ◽  
Paula J. Woodward ◽  
Robert J. Bollo
Keyword(s):  
Corpus Callosum ◽  
Normal Development ◽  
Expressive Language ◽  
Neurodevelopmental Outcomes ◽  
Fetal Diagnosis ◽  
Fetal Demise ◽  
Fetal Imaging ◽  
Mainstream School ◽  
Interhemispheric Cyst

OBJECTIVE Advances in prenatal imaging have facilitated improvements in the fetal diagnosis of congenital anomalies. Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) is a constellation of congenital anomalies reported in fetal imaging. However, few data are available regarding postnatal outcomes of infants and children with a fetal diagnosis of AVID. The authors sought to report the neurodevelopmental outcomes of patients diagnosed with AVID before birth at a single institution. METHODS An institutional fetal imaging database was queried to identify cases with ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum over a 10-year study period from 2000 to 2019. Overall, 41 maternal-infant dyads who met imaging criteria for AVID were identified; medical records were reviewed for prenatal variables including gestational age at birth, perinatal complications including fetal demise, and postnatal variables including demographics, mortality, hydrocephalus diagnosis and management, epilepsy, and neurodevelopmental outcomes at 2 years or the last follow-up. RESULTS Among 41 patients, 25 (61%) were male. A slight majority of patients (55%) were born before 36 weeks of gestational age, and 27 patients (68%) were delivered via cesarean section because their head size precluded vaginal delivery. There were 8 incidences of fetal demise, 1 pregnancy was terminated, and 32 patients were born alive. Neonatal or early infant death occurred in 5 patients. Two children died during follow-up after the neonatal period (ages 7 months and 7 years). Twenty-six children survived to at least the 2-year follow-up, all of whom required treatment for hydrocephalus. Of those 26 children, 12 (46%) had a diagnosis of epilepsy, 14 (54%) could sit independently, 4 (16%) were in mainstream school, 16 (62%) had expressive language, and 7 (28%) had near-normal development without seizures. CONCLUSIONS Among 41 maternal-fetal dyads with AVID, a majority of children survived to the 2-year follow-up, although all developed hydrocephalus. Many continued to have seizures, but expressive language use, attendance at mainstream school, and near-normal development without seizures were not infrequent. These data are critical for prenatal counseling and to establish the natural history of a diagnosis with limited outcome data.

Prenatal Ultrasound Diagnosis in 51 Cases of Holoprosencephaly: Craniofacial Anatomy, Associated Malformations, and Genetics

2010 ◽  
Vol 47 (1) ◽  
pp. 15-21 ◽  
Author(s):  
M. Wenghoefer ◽  
M. Ettema Anke ◽  
F. Sina ◽  
A. Geipel ◽  
A.M. Kuijpers-Jagtman ◽  
...  
Keyword(s):  
Prenatal Ultrasound ◽  
Trisomy 13 ◽  
Age At Diagnosis ◽  
Ultrasound Diagnosis ◽  
Chromosomal Anomalies ◽  
Medical Systems ◽  
Fetal Head ◽  
Ultrasound Diagnostics ◽  
Ultrasound Findings ◽  
Overall Ratio

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.

scholarly journals Prenatal Diagnosis of Corpus Callosum Agenesis in Four Fetuses

2020 ◽  
Author(s):  
Jiao Zheng ◽  
Tingting Song ◽  
Jia Li ◽  
Ying Xu ◽  
Pengfei Liu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Chromosomal Abnormalities ◽  
Ultrasound Examination ◽  
Prenatal Ultrasound ◽  
Chromosomal Microarray ◽  
Case Presentation ◽  
Corpus Callosum Agenesis ◽  
Main Pathway ◽  
Chromosome Microarray

Abstract Background: The corpus callosum is the main pathway connect the interhemispheric communication. Corpus callosum agenesis from asymptomatic to mild or severe neurodevelopmental disorders. However, few cases have been previously reported in the literature on prenatal diagnosis between corpus callosum agenesis and chromosomes abnormality. The study included prenatal diagnosis of 4 fetuses in whom prenatal ultrasound showed corpus callosum abnormality, isolated or associated with other central nervous lesions.Case presentation: Prenatal diagnoses of four children were summarized in our case. The routine prenatal ultrasound examination showed abnormal morphology of corpus callosum in fetus 1, dysplasia of the corpus callosum in fetus 3, the corpus callosum absence in fetus 2 and fetus 4, and fetus 4 also had cardiac abnormalities. Chromosomal microarray and G-band karyotype analysis were performed to provide genetic analysis of amniotic fluid. The results revealed 4.8M deletion at 1p36.33p36.31 in fetus 1, 3.1M deletion at Xq26.3q27.1 in fetus 2, 6.5M deletion at distal 1q43q44 and a duplication of 8.8M at 7q36.1q36.3 in fetus 3, fetus 4 had a deletion of 9.51M at 1p36.33p36.22 and 14.3M duplication at 6q25.3q27.Conclusion: The genetic mechanism of corpus callosum agenesis is variably complex, and its clinical phenotype may occur either alone or in association with other abnormalities. This study revealed the microabnormalities of multiple chromosomes are related to the corpus callosum abnormality. Combined with ultrasound examination, the application of chromosome microarray analysis will effectively improve the diagnosis of congenital submicroscopic chromosomal abnormalities in fetuses.

Prenatal ultrasound diagnosis of rare lethal syndromes on the example of four cases and review of literature

2019 ◽  
Author(s):  
N.A. Àltynnik, M.V. Kubrina
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Prenatal Ultrasound ◽  
The Body ◽  
Ultrasound Diagnosis ◽  
Review Of Literature ◽  
Distinctive Features ◽  
Ultrasound Diagnostics

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.

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