OP16.09: Termination of pregnancy for central nervous system (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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Evaluation of Prenatal Central Nervous System Anomalies: Obstetric Management, Fetal Outcomes and Chromosome Abnormalities

10.21203/rs.3.rs-754084/v1 ◽

2021 ◽

Author(s):

Ann Gee Tan ◽

Neha Sethi ◽

Sofiah Sulaiman

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Chromosomal Aberrations ◽

Gestational Age ◽

Neurodevelopmental Outcome ◽

Prenatal Ultrasound ◽

Live Births ◽

Patau Syndrome ◽

Obstetric Management ◽

Cns Anomalies

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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Congenital anomalies of the central nervous system: prevalence in a fetal medicine service in the Brazilian Midwest

10.5327/1516-3180.092 ◽

2021 ◽

Author(s):

Carolina Leão de Moraes ◽

Fernanda Sardinha de Abreu Tacon ◽

Andréa de Faria Rezende Matos ◽

Natália Cruz e Melo ◽

Michelle Hermínia Mesquita de Castro ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Prenatal Care ◽

Pregnant Women ◽

Congenital Anomalies ◽

Fetal Medicine ◽

Medicine Service ◽

The Central Nervous System ◽

Prospective Longitudinal ◽

Cns Anomalies

Introduction: Approximately 21% of congenital anomalies (CA) involve the Central Nervous System (CNS), constituting one of the most common birth defects, affecting 1 to 10: 1,000 of live births. Objective: To analyze the prevalence of CNS anomalies diagnosed by obstetric ultrasound. Methods: Prospective longitudinal cohort study carried out in a public fetal medicine service in Goiânia with pregnant women who were attended in high-risk prenatal care. The patients were followed up during the ultrasound exams from March 2018 to March 2019. Results: 225 cases of pregnant women with ultrasound diagnoses of CA were surveyed during the investigated period. CNS anomalies were the most prevalent, being present in 34.22% (77/225) of the cases. The mean maternal age of pregnant women was 25.55 years and mean gestational age was 28.84 weeks. Hydrocephalus was identified in 23 pregnant women (29.87%), being the most prevalent CNS anomalie. Anencephaly was present in 24.68% (19/77) and holoprosencephaly in 18.18% (14/77). Other CA were also diagnosed (21/77), such as meningocele, spina bifida, acrania, among others. However, they showed a lower prevalence in relation to hydrocephalus, anencephaly and holoprosencephaly. Conclusion: The findings are essential for the planning and allocation of hospital resources and investment in health. Besides that, to adequate and specific prenatal care, is indispensable in the search for reducing the incidence of these malformations, morbidity and improving survival rates of the affected population.

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Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2006000600005 ◽

2006 ◽

Vol 64 (4) ◽

pp. 916-920 ◽

Cited By ~ 3

Author(s):

Vera Lúcia Gil-da-Silva-Lopes ◽

Silvio David Araújo Giffoni

Keyword(s):

Computed Tomography ◽

Central Nervous System ◽

Nervous System ◽

Magnetic Resonance ◽

Magnetic Resonance Image ◽

Unknown Etiology ◽

X Rays ◽

Group I ◽

Facial Defects ◽

Cns Anomalies

The aim of this study were to describe and to compare structural central nervous system (CNS) anomalies detected by magnetic resonance image (MRI) and computed tomography (CT) in individuals affected by midline facial defects with hypertelorism (MFDH) isolated or associated with multiple congenital anomalies (MCA). The investigation protocol included dysmorphological examination, skull and facial X-rays, brain CT and/or MRI. We studied 24 individuals, 12 of them had an isolated form (Group I) and the others, MCA with unknown etiology (Group II). There was no significative difference between Group I and II and the results are presented in set. In addition to the several CNS anomalies previously described, MRI (n=18) was useful for detection of neuronal migration errors. These data suggested that structural CNS anomalies and MFDH seem to have an intrinsic embryological relationship, which should be taken in account during the clinical follow-up.

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Isotope cisternography and ventriculography in congenital anomalies of the central nervous system

Journal of Neurosurgery ◽

10.3171/jns.1975.43.1.0018 ◽

1975 ◽

Vol 43 (1) ◽

pp. 18-26 ◽

Cited By ~ 15

Author(s):

Franz E. Glasauer

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Congenital Anomalies ◽

Diagnostic Value ◽

Content Type ◽

The Central Nervous System ◽

Isotope Studies ◽

Isotope Cisternography ◽

Csf Absorption ◽

Cns Anomalies

✓ The author discusses the value of isotope cisternography and ventriculography in the diagnosis of a variety of congenital anomalies of the central nervous system (CNS) associated with either hydrocephalus or a disturbance in cerebrospinal fluid (CSF) flow and absorption. In sincipital encephaloceles the techniques demonstrate CSF communication with the anomalous sac and the frequently associated hydrocephalus with occipital lesions. In porencephaly and cerebral agenesis, the isotope demonstrates ventricular reflux and remains in the cystic dilatation indicating abnormal CSF absorption; isotope ventriculography also reveals a delayed CSF absorption and the possible sites of CSF obstruction in Arnold-Chiari malformations and Dandy-Walker syndrome. In addition to their differential diagnostic value isotope studies can be a helpful guide in the choice of the proper surgical treatment of some CNS anomalies.

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Termination of pregnancy following prenatally diagnosed central nervous system malformations

Archives of Gynecology and Obstetrics ◽

10.1007/s00404-018-4900-8 ◽

2018 ◽

Vol 298 (5) ◽

pp. 903-910 ◽

Cited By ~ 2

Author(s):

Christian M. Domröse ◽

Sandra Bremer ◽

Caroline Buczek ◽

Annegret Geipel ◽

Christoph Berg ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Termination Of Pregnancy

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Evaluation of Fetal Central Nervous System Anomalies; Perinatology Council Data of a Reference Center

Forbes Journal of Medicine ◽

10.5222/forbes.2020.30602 ◽

2020 ◽

Author(s):

Meltem Koyuncu Arslan ◽

Melek Akar ◽

Halil Gürsoy Pala ◽

Cüneyt Eftal Taner ◽

Mehmet Yekta Öncel

Keyword(s):

Central Nervous System ◽

Nervous System ◽

High Risk ◽

Pregnant Women ◽

Neural Tube ◽

Neural Tube Defects ◽

Gestational Week ◽

The Mean ◽

Cns Anomalies

INTRODUCTION: Central nervous system (CNS) anomalies are the second most common congenital malformations detected during antenatal period. Rates of prenatal diagnosis are aroung 96% in anencephaly, but drops down to approximately 14 % in migration anomalies.We aimed to determine the frequency and features of CNS anomalies evaluated in the perinatology council of our hospital where high-risk pregnancies were discussed and also to emphasize the importance of antenatal diagnosis. METHODS: Pregnant women, with a CNS anomaly detected in their fetus, who were evaluated between January 2019-December 2019 in the perinatology council of Tepecik Training and Research Hospital were included in the study. Retrospectively, the records of the cases were examined, prenatal, and maternal risk factors at the time of council session, the council decision and the results were recorded. Statistical analyzes were done using SPSS 20.0 program. RESULTS: Data of 1272 pregnant women were evaluated in the study, and 261 cases (20.5%) with CNS anomalies were detected. A total of 129 pregnant women were excluded from the study because follow-up of these patients were not realized in our center or they didn’t give birth yet.. Totally, 132 pregnant women were included in the study. The mean maternal age was 26.99±6.50 (14-42) years, the mean gestational age was 22.63±7.08 (10.4-38.6) weeks. Most common CNS anomalies detected were neural tube defects (n=54; 40%), hydrocephalus/ventriculomegaly (n=36; 27%), migration defects (n=21; 15%) and cerebellar malformations (n=9; 6%). Termination of pregnancy was decided for 29.8% (n=78) of pregnant women, but realized only for 62 pregnancies. Among pregnancies which were decided to be continued due to the fact that gestational week was 22 weeks or more (n=51), had fetuses with neural tube defects (n=25; 50%) and hydrocephalus/ventriculomegaly (n=36; 27%) with poor prognosis. DISCUSSION AND CONCLUSION: As the anomalies with high morbidity and mortality were referred to our hospital after the 22nd gestational week, termination option could not be offered to these pregnancies. High-risk pregnancies should be directed to perinatology centers in the early period so that this option can be presented to the family, appropriate follow-up and treatment of life-compatible ones.

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