Evaluation of Prenatal Central Nervous System Anomalies: Obstetric Management, Fetal Outcomes and Chromosome Abnormalities

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.

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The Spectrum of Congenital Central Nervous System Anomalies Among Stillborn: An Autopsy Based Study

Annals of Neurosciences ◽

10.1177/0972753121990169 ◽

2021 ◽

pp. 097275312199016

Author(s):

S. P. Vinutha ◽

D. Narayanappa ◽

G. V. Manjunath ◽

M. S. Sujatha ◽

M. C. Sapna Patel ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Congenital Anomalies ◽

Developmental Process ◽

Holistic Approach ◽

Fetal Autopsy ◽

Exact Test ◽

Medical College ◽

Ultrasound Findings ◽

Cns Anomalies

Background: Congenital central nervous system (CNS) anomalies are the structural or functional abnormalities of the brain and spinal cord that occur during the intrauterine developmental process. Purpose: The present study aims to detect the prevalence of congenital CNS anomalies among stillborn fetuses, the association between congenital anomalies and maternal factors, and also the association between autopsy and ultrasound findings. Methods: This study was conducted on 50 stillborn fetuses, obtained from the Department of Obstetrics and Gynecology at JSS Medical College and Hospital, Mysuru. The fetuses were fixed in 10% formalin and autopsies were performed as per the standard fetal autopsy protocol. The congenital CNS anomalies were studied in detail. Results: CNS anomalies were the most common congenital anomalies observed. Out of the total 50 stillborn fetuses studied, CNS anomalies were found in 17 fetuses and their occurrence was more common among male stillborn than females. Meningomyelocele was the most common anomaly, followed by anencephaly. The other anomalies documented were meningocele, encephalocele, meningoencephalocele, agenesis of the corpus callosum, craniorachischisis, bifid cerebellum with hypoplastic vermis, holoprosencephaly, and sirenomelia. Fisher’s exact test showed a significant association between maternal hypothyroidism and congenital CNS anomalies ( P < .05). The autopsy confirmed the ultrasound findings in 40 (80%) fetuses. There were significant additional findings observed in seven (14%) fetal autopsies and ultrasound diagnosis completely changed in three (6%) cases, after the final autopsy procedure. Conclusion: The fetal autopsy is the single most directly evident investigation, which gives information that changes or significantly improves the clinical diagnosis. A multidisciplinary holistic approach toward pregnancy will help to detect any kind of abnormality in the fetus and thus to take a timely decision toward the management.

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Embryology of Spinal Dysraphism and its Relationship to Surgical Treatment

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2020.75 ◽

2020 ◽

Vol 47 (6) ◽

pp. 736-746

Author(s):

Matthew E. Eagles ◽

Nalin Gupta

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Surgical Treatment ◽

Gestational Age ◽

Congenital Malformations ◽

Spinal Dysraphism ◽

Embryological Development ◽

Correct Treatment ◽

Pathological Correlation ◽

The Central Nervous System

ABSTRACT:Spinal dysraphism is an umbrella term that encompasses a number of congenital malformations that affect the central nervous system. The etiology of these conditions can be traced back to a specific defect in embryological development, with the more disabling malformations occurring at an earlier gestational age. A thorough understanding of the relevant neuroembryology is imperative for clinicians to select the correct treatment and prevent complications associated with spinal dysraphism. This paper will review the neuroembryology associated with the various forms of spinal dysraphism and provide a clinical-pathological correlation for these congenital malformations.

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Clinical neurologic and developmental studies after cardiac surgery utilizing hypothermic circulatory arrest and cardiopulmonary bypass

Cardiology in the Young ◽

10.1017/s1047951100001712 ◽

1993 ◽

Vol 3 (3) ◽

pp. 308-316 ◽

Cited By ~ 13

Author(s):

Gil Wernovsky ◽

Richard A. Jonas ◽

Paul R. Hickey ◽

Adré J. du Plessis ◽

Jane W. Newburger

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Cardiac Surgery ◽

Cardiopulmonary Bypass ◽

Circulatory Arrest ◽

Neurodevelopmental Outcome ◽

Hypothermic Circulatory Arrest ◽

Cerebral Injury ◽

Profound Hypothermia ◽

The Central Nervous System

The dramatic reduction in surgical mortality associated with repair of congenital heart anomalies in recent decades has been accompanied by a growing recognition of adverse neurologic sequels in some of the survivors. Abnormalities of the central nervous system may be a function of coexisting cerebral abnormalities or acquired events unrelated to surgical management (such as paradoxical embolus, cerebral infection, or effects of chronic cyanosis), but insults to the central nervous system appear to occur most frequently during or immediately after surgery. In particular, techniques of support used during neonatal and infant cardiac surgery—cardiopulmonary bypass, profound hypothermia and circulatory arrest—have been implicated as important causes of cerebral injury. This paper will review the effects of bypass and deep hypothermic circulatory arrest on neurodevelopmental outcome.

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Agreement between prenatal ultrasound and 3.0T magnetic resonance imaging in the assessment of anomalies of the central nervous system: A single‐center experience in Slovakia

International Journal of Gynecology & Obstetrics ◽

10.1002/ijgo.13388 ◽

2020 ◽

Author(s):

Michaela Jezberova ◽

Zuzana Kosutzka ◽

Iveta Waczulikova ◽

Miriam Kolnikova ◽

Anton Cunderlik ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Central Nervous System ◽

Nervous System ◽

Magnetic Resonance ◽

Prenatal Ultrasound ◽

Single Center ◽

Resonance Imaging ◽

Single Center Experience ◽

System A ◽

The Central Nervous System

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Peripheral and brain tissue catecholamine content in intact and anti-NGF-treated fetal sheep

AJP Regulatory Integrative and Comparative Physiology ◽

10.1152/ajpregu.1987.252.1.r7 ◽

1987 ◽

Vol 252 (1) ◽

pp. R7-R12 ◽

Cited By ~ 2

Author(s):

J. A. Schuijers ◽

D. W. Walker ◽

C. A. Browne ◽

G. D. Thorburn

Keyword(s):

Spinal Cord ◽

Central Nervous System ◽

Nervous System ◽

Gestational Age ◽

Adrenal Glands ◽

Matched Control ◽

Cervical Spinal Cord ◽

Fetal Sheep ◽

Catecholamine Content ◽

The Central Nervous System

Fetal lambs were treated with a single dose of anti-mouse nerve growth factor (anti-NGF) at 80 days gestational age. The catecholamine content of tissues was determined at 135 days gestational age. There was a reduction of either norepinephrine, epinephrine, or both, in the thymus, thyroid, atrium (but not ventricle), lung, liver, kidney, and jejunum when compared with age-matched control fetuses. The spleen, ileum, colon, and the adrenal glands were not affected by anti-NGF. In treated fetuses there was a reduction in catecholamine content of the thalamus, hypothalamus, hippocampus, medulla, cerebellum, and cervical spinal cord. These results show that some tissues are sensitive to, and some are refractory to, the action of anti-NGF at 80 days gestation. Also the results suggest that NGF may play a role in the development of catecholamine-containing neurons within the central nervous system.

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Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations—A Population-Based Study

European Journal of Pediatric Surgery ◽

10.1055/s-0040-1703012 ◽

2020 ◽

Author(s):

Arimatias Raitio ◽

Asta Tauriainen ◽

Johanna Syvänen ◽

Teemu Kemppainen ◽

Eliisa Löyttyniemi ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Infant Mortality ◽

Chromosomal Abnormalities ◽

Heart Defects ◽

Population Based ◽

Associated Anomalies ◽

Live Births ◽

Total Prevalence ◽

Chromosomal Defects

Abstract Inroduction The aim of this study is to assess the changes in prevalence, mortality and termination pregnancy of omphalocele, and to identify associated anomalies. Materials and Methods A population-based nationwide register study. All cases with omphalocele were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded and analyzed, and perinatal and infant mortality and prevalence were calculated. Results There were 600 cases with omphalocele including 229 live births, 39 stillbirths, and 332 (55%) abortions. Birth prevalence in Finland was 1.96 per 10,000 births with no consistent trend over time. However, total prevalence was much higher (4.71/10,000) because more than half of these families chose option for the termination of pregnancy. Omphalocele is often complicated with other anomalies; most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%), gastrointestinal, and urogenital malformations (both 2.0%). Proportion of chromosomal and central nervous system abnormalities were even higher in terminated pregnancies. Overall infant mortality was 22%. Total 1-year survival rates for isolated omphalocele, cases with multiple anomalies and neonates with chromosomal defects were 80, 88, and 17%, respectively. Conclusion Omphalocele is a rare congenital anomaly, often associated with other malformations. Our data suggest that isolated cases may be more common than previously thought. In the absence of chromosomal defects, survival is reasonably good. Regardless, more than half of these pregnancies are often terminated.

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