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Congenital Malformations CONGENITAL MALFORMATIONS A Report of a Study of Series of Consecutive Births in 24 Centres Prepared on behalf of their colleagues in the 40 co-operating hospitals by Alan C. Stevenson, Harold A. Johnston, M. I. Patricia Stewart & Douglas R. Golding Medical Research Council of Great Britain, Population Genetics Research Unit, Old Road, Headington, Oxford, England WORLD HEALTH ORGANIZATION ORGANISATION .MONDIALE DE LA SANT£ GE NEVE 1966 © World Health Organization 1966 Publications of the World Health Organization enjoy copyright protection in accordance with the provisions of Protocol 2 of the Universal Copyright Convention. Nevertheless governmental agencies or learned and professional societies may reproduce data or excerpts or illustrations from them without requesting an authorization from the World Health Organization. For rights of reproduction or translation of WHO publications in toto, application should be made to the Division of Editorial and Reference Services, World Health Organization, Geneva, Switzerland. The World Health Organization welcomes such applications. The designations employed and the presentation of the material in this publication do not !impy the expression of any opinion whatsoever on the part of the Director-General of the World Health Organization concerning the legal status of any country or territory or of its authorities, or concerning the delimitation of its frontiers. © Organisation mondiale de la Sante 1966 Les publications de !'Organisation mondiale de la Sante beneficient de la protection prevue par !es dispositions du Protocole n° 2 de la Convention universelle pour la Protection du Droit d'Auteur. Les institutions gouvernementales et !es societes savantes ou professionnelles peuvent, toutefois, ·reproduire des donnees, des extraits ou des illustrations provenant de ces publications, sans en demander l'autorisation a !'Organisation mondiale de la Sante. Pour toute reproduction ou traduction integrale, une autorisation doit etre demandee a la Division des Services d'Edition et de Documentation, Organisation mondiale de la Sante, Geneve, Suisse. L'Organi­ sation mondiale de la Sante sera toujours tres heureuse de recevoir des demandes a cet effet. Les designations utilisees dans cette publication et la presentation des donnees qui y figurent n'impliquent de la part du Directeur general de !'Organisation mondiale de la Sante aucune prise de position quant au statutjuridique de tel ou tel pays ou territoire, ou de ses autorites, ni quant au trace de ses frontieres. PRINTED IN SWITZERLAND CONTENTS List of centres, co-operating hospitals and those responsible for the study . 5 1. Introduction . 9 2. The data: general considerations 12 3. Down's syndrome (A) . 22 4. Malformations of structures developed from the neural tube (Bl-B7) . 25 5. Other malformations of the central nervous system (C) 35 6. Congenital heart disease (D) . 36 7. Malformations of the gut (El-E4) . 38 8. Defects of the diaphragm (F) . 46 9. Harelip (GI), harelip and associated cleft palate (G2), and pos- terior cleft palate (G3) . 47 10. Talipes (H) . 55 11. Luxation or subluxation of the hip (I) 56 12. Malformations of the limbs and extremities (Jl-17) 58 13. Other local and general skeletal malformations (Kl-K5) 63 14. Malformations of the urogenital tract (L) 66 15. Miscellaneous malformations (M) and single-gene traits 69 16. Multiple malformations (N) 74 17. Minor malformations 77 18. Multiple births 79 19. Consanguinity 88 20. Discussion and summing-up 100 21. Future studies of congenital malformations in different countries 103 Acknowledgements 106 Resume . 106 References 108 Annex 1. Cards used for recording of individual births 109 Annex 2. Blank forms used for basic tabulations by centrc:s 113 Annex 3. Remarks on the interpretation of the data and an explana- tion as to allocation of cases of malformations in the A-N groups 125 LIST OF CENTRES, CO-OPERATING HOSPITALS AND THOSE RESPONSIBLE FOR THE STUDY I AUSTRALIA 1. Melbourne Royal Women's Hospital 2. Melbourne Queen Victoria Hospital Professor Lance Townsend II BRAZIL Sao Paulo Hospital Casa Maternal e da Infancia " Leonor Mendes de Barros " Dr Domingos Delascio Dr Isaac Amar Dr Soylle Vita de Silveira ID CHILE Santiago Hospital Ramon Barros Luco Dr Onofre Avendano IV COLOMBIA 1. Bogota Instituto Materno Infantil "Concepcion Villaveces de Acosta " Dr Martinez Saenz Dr Hernando Forero Caballero Dr Guillermo Pinzon 2. Medellin Hospital Universitario San Vicente de Paul Social Security Hospital Luz Castro Maternity Hospital Dr Bernardo Chica V CZECHOSLOVAKIA Prague Mother and Child Institute Plzen Regional Hospital V. I. Lenin's Works Hospital Hradec Kralone Regional Hospital Usti n. L. Regional Hospital Ostrava Regional Hospital Dr J1ri Kucera Dr Vladimir Matousek (Czechoslovak Academy of Sciences) Dr V. J. Mathesius Dr D. Kasalova Dr D. Blechova Dr E. Sottnerova Dr K. Stromsky VI UNITED ARAB REPUBLIC (EGYPT) Alexandria Shatby Maternity Hospital (University of Alexandria) Professor H. K. Toppozada Dr M. Abul-Ainein VII HONG KONG Hong Kong Tsan Yuk Hospital Professor Daphne W. C. Chun Dr P. S. Kan VIII INDIA 1. Bombay Nowrosjee Wadia Maternity Hospital King Edward VII Memorial Hospital Lokmanya Tilak Municipal General Hospital Bai Motlihai Hospital Nair Hospital Dr V. N. Purandare 2. Calcutta Eden Hospital Professor K. N. Mitra IX MALAYSIA 1. Kuala Lumpur Maternity Hospital Dr J. D. Llewellyn Jones 2. Singapore Kandang Kerbau Hospital Dr T. H. Lean X MEXICO 1. Mexico City Hospital de Gineco-Obstetricia del Centro Medico Nacional del Instituto Mexicano del Seguro Social Dr Benjamin Eguiluz Dr Juan Urrusti S. 2. Mexico City Hospital de Gineco-Obstetricia Numero Uno del Instituto Mexicano del Seguro Social Dr Adalberto Estrada Viezca Dr Luiz Castelazo Ayala XI NORTHERN IRELA:.~ Belfast Royal Maternity Hospital City Hospital Professor E. A. Cheeseman Dr P. Froggatt XIl PANAMA Panama City Hospital Santo Tomas Dr Alberto Bissot Jr. Dr Roderick L. Esquivel Mrs Emilia de Carvajal XIII PlllLIPPINES Manila Maternity and Children's Hospital Philippine General Hospital Dr A. P. Jongco Dr E. Fernandez Dr L. Cillan-Chung XIV ~SOUTH~AFRICA l. Cape Town Somerset Hospital Peninsula Maternity Hospital D(C. J. T. Craig 2. Johannesburg Queen Victoria Hospital Karl Bremer Hospital Groote Schuur Hospital Dr John Samson 3. Pretoria Holy Cross Nursing Home (Pretoria University) Professor F. G. Geldenhuys XV SPAIN Madrid Instituto Provincial de Obstetricia y Ginecologia Dr Julio Monereo and co-workers XVI YUGOSLAVIA 1. Ljubljana Ginek.-Porodniska Klinika Dr V. Cupic DrV. Sernec Dr S. Kenda 2. Zagreb University and other clinics Professor B. Kesic Dr Z. Sestak Congenital Malformations A Report of a Study of Series of Consecutive Births in 24 Centres A report is presented of a study of births in 24 centres in 16 countries with respect to the occurrence and type of congenital malformations found in stillborn and liveborn infants. In all, the outcomes of 421 781 preg­ nancies are investigated ( 416 695 single births, 5022 sets of twins, 63 sets of triplets, and one set of quadru­ plets). The frequencies of malformations of specific types or of groups of malformations are considered with particular reference to geographical variations and associations with consanguinity of parents. The evidence relating to clinical and etiological heterogeneity is considered, as well as that on the genetical contribution to congenital malformations and perinatal mortality. The data are presented in considerable detail in tables and in addition there is available on request to the authors a 400-page companion booklet of basic tables for each centre. Among the findings of particular interest are : the large contribution of neural tube defects to foetal wastage in most countries and the significant correlations of frequencies of these defects over the 24 recording centres ; the unexplained correlation in frequency between neural tube defects and dizygous twinning ; the marked association of consanguinity of parents with increased stillbirth rates and frequency of early death of the infant, these frequencies being highest where parents are most closely related; and the demonstration that, if malformations known to be due to the expression of single recessive gene mutations are ignored, consanguinity ofparents is demonstrably associated in these data with neural tube de.feet frequencies only. A number of interesting observations, either novel or confirmatory of views derived from different approaches, emerge in respect of specific groups of malformations. This is so particularly in respect of harelip and cleft palate, ma(formations of the gut, malformations of the urogenital tract and multiple malformations occurring in the same child. The findings in respect of twin births are of interest for the light which they throw on the relative contributions of monozygous and dizygous pairs to the total variance of twinning frequencies in the different centres. Estimates are made of the effects of monozygosity on survival of infants and of the occur­ rence of malformations. 1. INTRODUCTION ORIGINS OF THE STUDY Roberts and Dr A. C. Stevenson considered, at the request of WHO, all the suggestions for genetic In 1958, in the course of discussions in which research which had been put forward at the 1958 dis­ the World Health Organization took part on needs cussions. It was again recommended that a simple in medical research, a prospective study of con­ prospective study of the malformations occurring genital malformations
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