+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation



Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation



Indian Journal of Medical Research 145(4): 471-478



Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings. This retrospective study was conducted in a tertiary care hospital in north India from January 2007 to December 2013. The details of cases with prenatally detected CNS malformations were collected and were related with the foetal chromosomal analysis and autopsy findings. Amongst 6044 prenatal ultrasonographic examinations performed; 768 (12.7%) had structural malformations and 243 (31.6%) had CNS malformations. Neural tube defects (NTDs) accounted for 52.3 per cent of CNS malformations and 16.5 per cent of all malformations. The other major groups of prenatally detected CNS malformations were ventriculomegaly and midline anomalies. Chromosomal abnormalities were detected in 8.2 per cent of the 73 cases studied. Foetal autopsy findings were available for 48 foetuses. Foetal autopsy identified additional findings in eight foetuses and the aetiological diagnosis changed in two of them (4.2%). Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 060269595

Download citation: RISBibTeXText

PMID: 28862178


Related references

Central nervous system congenital malformations, especially neural tube defects in 29 provinces, metropolitan cities and autonomous regions of China: Chinese Birth Defects Monitoring Program. International Journal of Epidemiology 19(4): 978-982, 1990

Central nervous system anomalies associated with meningomyelocele, hydrocephalus, and the Arnold-Chiari malformation: reappraisal of theories regarding the pathogenesis of posterior neural tube closure defects. Neurosurgery 18(5): 559-564, 1986

Aneuploidy among prenatally detected neural tube defects. American Journal of Medical Genetics 61(2): 171-173, 1996

Experimental study of the central nervous system malformations. Mechanism of the neural tube malformations induced by ethylnitrosourea administration at the stage of embryogenesis. Neurologia Medico-Chirurgica 17(5 Pt 2): 435-445, 1977

Spectrum of neural-tube defects in 34 infants prenatally exposed to antiepileptic drugs. Neurology 42(4 Suppl 5): 111-118, 1992

Recent perspectives on the development of the central nervous system and the genetic background of neural tube defects. Orvosi Hetilap 150(19): 873-882, 2009

Multidisciplinary approach to the treatment of central nervous system (CNS) infections in children with neural tube defects (NTD). European Journal of Pediatric Surgery 3(Suppl. 1): 19, 1993

Lower limb movements and urologic function in fetuses with neural tube and other central nervous system defects. Fetal Therapy 3(3): 129-134, 1988

Outcome of children with prenatally diagnosed central nervous system malformations. Ultrasound in Obstetrics and Gynecology 21(1): 41-47, 2003

Termination of pregnancy following prenatally diagnosed central nervous system malformations. Archives of Gynecology and Obstetrics 298(5): 903-910, 2018

Outcome of Children With Prenatally Diagnosed Central Nervous System Malformations. Obstetrical & Gynecological Survey 58(7): 447-448, 2003

Prenatally detected central nervous system lesions in fetuses with tuberous sclerosis. American Journal of Human Genetics 61(4 Suppl. ): A162, 1997

Valproic acid induced abnormal development of the central nervous system of three species of amphibians: Implications for neural tube defects and alternative experimental systems. Teratogenesis Carcinogenesis & Mutagenesis 12(6): 251-262, 1992

Brief report pregnancy outcome in women assigned an ICD-9/ICD-9-CM 655.0 code "central nervous system malformation in fetus affecting management of pregnancy": can these codes aid in surveillance for central nervous system defects?. Birth Defects Research. Part A Clinical and Molecular Teratology 100(11): 848-851, 2014

Diagnosis of malformations of the central nervous system using foetal magnetic resonance imaging. Revista de Neurologia 43(Suppl. 1): S115-S120, 2006