{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T22:30:00Z","timestamp":1767652200512,"version":"3.41.0"},"reference-count":13,"publisher":"Scientific Scholar","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,4]]},"abstract":"\n Background & objectives:<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n 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%).<\/jats:p>\n <\/jats:sec>\n \n Interpretation & conclusions:<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/ijmr.ijmr_1882_14","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T19:03:06Z","timestamp":1734634986000},"page":"471-478","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Spectrum of prenatally detected central nervous system malformations"],"prefix":"10.25259","volume":"145","author":[{"given":"Anjurani","family":"Siddesh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geetika","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ram","family":"Sharan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meenal","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","reference":[{"key":"R1-8-20241212","first-page":"1276","article-title":"Frequency of foetal anomalies in a tertiary care centre","volume":"7","author":"Babu","year":"2013","journal-title":"J Clin Diagn 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of neural tube defects of Lucknow over a 10 year period from 1982-1991","volume":"99","author":"Sharma","year":"1994","journal-title":"Indian J Med Res"},{"key":"R6-8-20241212","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/S0140-6736(05)67319-9","article-title":"Incidence of neural tube defects in the least-developed area of India: A population-based study","volume":"366","author":"Cherian","year":"2005","journal-title":"Lancet"},{"key":"R7-8-20241212","first-page":"135","article-title":"Congenital abnormalities in Durgapur Steel Plant Hospital with special reference to neural tube defect","volume":"95","author":"Duttachoudhury","year":"1997","journal-title":"J Indian Med Assoc"},{"key":"R8-8-20241212","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1016\/S0140-6736(87)92705-X","article-title":"High incidence of neural-tube defects in South 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Teratol"},{"key":"R16-8-20241212","doi-asserted-by":"crossref","first-page":"145","DOI":"10.4103\/0971-6866.100747","article-title":"Neural tube defects: A need for population-based prevention program","volume":"18","author":"Phadke","year":"2012","journal-title":"Indian J Hum Genet"},{"key":"R17-8-20241212","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1002\/pd.2887","article-title":"Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners","volume":"31","author":"Phadke","year":"2011","journal-title":"Prenat Diagn"}],"container-title":["Indian Journal of Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/02223309-201745040-00008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T22:58:43Z","timestamp":1751497123000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijmr.org.in\/spectrum-of-prenatally-detected-central-nervous-system-malformations-neural-tube-defects-continue-to-be-the-leading-foetal-malformation\/"}},"subtitle":["Neural tube defects continue to be the leading foetal malformation"],"short-title":[],"issued":{"date-parts":[[2017,4]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.4103\/ijmr.ijmr_1882_14","relation":{},"ISSN":["0971-5916"],"issn-type":[{"type":"print","value":"0971-5916"}],"subject":[],"published":{"date-parts":[[2017,4]]}}}