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A population-based study of holoprosencephaly in the north of england, 1985-1996

Lookup NU author(s): Professor Judith Rankin, Dr Philip Bullen


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Background: Holoprosencephaly (HP) is a congenital abnormality resulting from Uif incomplete closure of the embryonic forebrain which produces a range of cranial and facial abnormalities. The epidemiology of this condition has not been well described; studies have involved small samples and have not been population-based. Aim: To determine the. prevalence, associated anomalies, clinical out comes, maternal age distribution and the sensitivity of antenatal detection of Ht? Design: All cases with a final postnatal diagnosis of HP (icd'J code 7-42.2) occurring within the former Northern 1 lealth Region notified to the Northern Congenital Abnormality Survey (KorCAS, a population based register of major congenital malformations) between 1985 and 199(i, form tlie cases scries. Results: A total of 52 cases of I IP were notified to the NorCAS. including four cases of cyclops. 50 (90.2%) were singleton pregnancies and there were 2 (3.8%) twin cases. The male:female ratio was O.SHI. The mean (S.D.) matemal age was 28.9 ((5.24) years (range 17-4(5); 42 (80.8%) cases were to women aged less than 35 years. Two mothers had two pregnancies diagnosed with I IP. The total prevalence for the twelve year's was 1.05 per 10,000 births, and the birth prevalence was 0.45 per 10.000. 21 (40.4%) eases were of isolated IIP. 14 (20.9%) occurred in the presence of a chromosomal abnormality (12 with trisomy 13 [1(5.11% of all trisomy 13s], two with trisomy 18), and 17 occurred in the presence of other structural anomalies. Over half (28, 57.1 %) of all pregnancies ended in terminal ion wliilst 19 (38.8%) resulted in a livebirth. seven (3(5.8%) of which were alive at one year. 38 (74.5%) cases were detected by routine antenatal screening. Discussion: The study has the advantages of being population-based and having a high case ascertainment from a local register of congenital anomalies.

Publication metadata

Author(s): Rankin J, Bullen P

Publication type: Article

Publication status: Published

Journal: European Journal of Pediatric Surgery, Supplement

Year: 1999

Volume: 9

Issue: 1

Pages: 11-13

ISSN (print): 0939-6764

ISSN (electronic):

Publisher: Hippokrates Verlag in MVS Medizinverlage Stuttgart GmbH & Co.KG