879
understanding of cystic disorders of the kidney, be disregarded.
tance to
the
however,
cannot
Departments of Medicine and Anatomy,
University of New Mexico School of Medicine, Albuquerque, New Mexico 87131, U.S.A. Department of Anatomic Pathology, William Beaumont Hospital, Royal Oak, Michigan
K. D. GARDNER, A.P.EVAN
JR.
J. BERNSTEIN
troschisis and a normal spine they were relieved to learn of the intestinal abnormality, for they had believed that the child would be both mentally and physically handicapped. The lesion was successfully treated. The last case illustrates the psychological damage that can follow the insensitive application of this form of routine test. Modern obstetrics places considerable demands on most pregnant women, and Ellison Nash may well be correct in hinting that we are now approaching a new era of "animal hus-
bandry". SCREENING FOR NEURAL-TUBE DEFECTS
SiR,—Our experience has been similar to that of Mr Ellison Nash (Feb. 25, p. 438), and there can be no doubt that many children with spina bifida grow up to lead useful lives. In Sheffield, at a time when nearly all cases of open myelomeningocele were accepted for early closure, just over 10% of the longterm survivors were normal and a further 8% had only slight handicaps. The results at ten years were acceptable in 56% of the survivors. Infants born with extensive lesions reaching from the thoracic area to the sacral region usually have severe handicaps, but occasionally even this rule does not apply. Measurement of the a-fetoprotein (A.F.P.) level in maternal serum is a significant step forward in antenatal diagnosis. However, it does not provide a simple solution to the problem of spina bifida. Not all mothers are willing to consider termination of pregnancy.2 Two infants treated in our unit for open myelomeningocele were born to older women who had refused A.F.P. tests on the grounds that they would not consider abortion whatever the result. The test is not always positive in affected pregnancies.3 Two babies admitted here this year were each born with an extensive open myelomeningocele and hydrocephalus. The mothers’ serum-A.F.p. values had been normal, so amniocentesis was not done. One mother had had one previous normal pregnancy; the other had had one miscarriage and during the subsequent affected pregnancy ultrasound scans had been normal on three occasions, including one at the 36th week of gestation. Neither serum nor amniotic-fluid A.F.P. distinguishes between fetuses with severe neurological impairment and those with a favourable prognosis.3 Thus, if all pregnancies with raised A.F.P. levels are terminated an appreciable number of potentially normal and near-normal individuals will be sacrificed.4 In a case in which the maternal serum and subsequent amniotic-fluid levels of A.F.P. were known to be raised the ultrasound scan and radiographs were normal on several occasions. Eventually, it was decided to allow the pregnancy to go to term, the parents being aware of the possibilities. The infant was born with a flat, open, lumbar lesion which was closed surgically. Despite some neurological deficit in the lower limbs, this child is now making satisfactory progress with limited handicaps. Had the obstetrician been more radical, the child would not have been born. Both serum and amniotic-fluid A.F.P. may be raised in the absence of spina bifida and many such cases have been reported in The Lancet. This fact is of particular concern when the fetus is normal or has an anomaly which is correctable. After a "routine screening test" a young primigravida was told that her baby would be born with spina bifida. An abortion was offered. She had not understood the nature of the blood test and was horrified to learn of the result. Because she had strong religious convictions, she refused even to consider termination. Both parents suffered severe anxiety throughout the following months, and when the baby was born with gas1. Lister, J., Zachary, R. B., Brereton, R. 161. 2. Clarke, M. Lancet, 1977, i, 1098. 3. U.K. Collaborative Study ibid. p. 1323. 4. Edwards, J. H. ibid. p. 700.
J. Progr. pædiat. Surg. 1977, 10,
All the cases referred to above were seen here during the past eight months, during which period 30 infants with neuraltube defects other than anencephaly were admitted to the neonatal surgical unit.
Department of Paediatric Surgery, Alder Hey Children’s Hospital, Liverpool L12 2AP
R. J. BRERETON R. E. CUDMORE I. M. IRVING J. LISTER NEBIL BUYUKPANUKCU
HIGH FREQUENCY OF NEURAL-TUBE DEFECTS IN NORTH INDIA
SiR,—Gathering data on the frequency of neural-tube defects (N.T.b.) is the first step towards unravelling the cause.’ I have collected information from published and unpublished sources on the rate of anencephaly and spina bifida among hospital births in India.2.3 Part of this information is summarised in the table, along with data from other areas of high frequency. Data from hospital births will overestimate the frequency of these defects in the general population. The figures might also
be affected by the obstetric practices of the hospitals. However, in the Indian hospitals for which data are listed most patients are from poorer income groups, so the case mix will differ only marginally from hospital to hospital. The frequency of open N.T.D. is high in Amritsar and Chandigarh (which have a high proportion of Sikhs) but also in Jaipur, Ajmer, Udaipur, and Delhi. These towns are in north India. The frequency is lower in Bombay, Madras, Calcutta, and Pondicherry. The frequency in Chandigarh, Jaipur, and Amritsar equals that recorded in Belfast and South Wales, while Ajmer, Udaipur, and Delhi have as high a frequency as Birmingham and Alexandria. The studies in South Wales and Birmingham covered hospital and home deliveries; the Belfast and Alexandria series were hospital births. The high prevalence of anencephaly among the Sikhs is well known,4.7 and is maintained even after migration to U.K. In the worldwide study of congenital malformations4 Prof. C. Phillips from Amritsar provided information that there were 25 cases of anencephaly among 6308 infants born to Sikh mothers while only 22 cases were observed among 10 361 infants of Hindu mothers. In a more recent compilation (unpublished) she recorded 34 cases of anencephaly among Sikhs and 11 among Hindus for total deliveries numbering 6532, a ratio of 3:1. The Sikh:Hindu ratio in the population served by the hospital is 3:2 (a breakdown of hospital deliveries by mother’s religion was not available). Although there is an excess of cases among the Sikhs, Hindus, both in Punjab and Rajasthan (Jaipur, Ajmer, and Udaipur), also have a high frequency compared with the rest of India. Moreover, there is historical and 1. Leck, I. Teratology, 1972, 5, 303. 2. Verma, I. C., Jacob, T. T. J. All-India Inst. med. Sci. 1976, 1, 164. 3. Verma, I. C. Medical Genetics in India. (In the press.) 4. Stevenson, A. C., Johnston, H. A., Stewart, M. I. P., Golding, D. R. Bull. Wld Hlth Org. 1966, 34, suppl. 9. 5. Laurence, K. M., Carter, C. O., David, P. A. Br. J. Prev. soc. Med. 1968,
22, 212. 6. Leck, I., Record, R. G., McKeown, T., Edwards, J. H. 263. 7. Leck, I. Br. J. prev. soc. Med. 1969, 23, 166.
Teratology, 1968, 1,
understanding of cystic disorders of the kidney, be disregarded.
tance to
the
however,
cannot
Departments of Medicine and Anatomy,
University of New Mexico School of Medicine, Albuquerque, New Mexico 87131, U.S.A. Department of Anatomic Pathology, William Beaumont Hospital, Royal Oak, Michigan
K. D. GARDNER, A.P.EVAN
JR.
J. BERNSTEIN
troschisis and a normal spine they were relieved to learn of the intestinal abnormality, for they had believed that the child would be both mentally and physically handicapped. The lesion was successfully treated. The last case illustrates the psychological damage that can follow the insensitive application of this form of routine test. Modern obstetrics places considerable demands on most pregnant women, and Ellison Nash may well be correct in hinting that we are now approaching a new era of "animal hus-
bandry". SCREENING FOR NEURAL-TUBE DEFECTS
SiR,—Our experience has been similar to that of Mr Ellison Nash (Feb. 25, p. 438), and there can be no doubt that many children with spina bifida grow up to lead useful lives. In Sheffield, at a time when nearly all cases of open myelomeningocele were accepted for early closure, just over 10% of the longterm survivors were normal and a further 8% had only slight handicaps. The results at ten years were acceptable in 56% of the survivors. Infants born with extensive lesions reaching from the thoracic area to the sacral region usually have severe handicaps, but occasionally even this rule does not apply. Measurement of the a-fetoprotein (A.F.P.) level in maternal serum is a significant step forward in antenatal diagnosis. However, it does not provide a simple solution to the problem of spina bifida. Not all mothers are willing to consider termination of pregnancy.2 Two infants treated in our unit for open myelomeningocele were born to older women who had refused A.F.P. tests on the grounds that they would not consider abortion whatever the result. The test is not always positive in affected pregnancies.3 Two babies admitted here this year were each born with an extensive open myelomeningocele and hydrocephalus. The mothers’ serum-A.F.p. values had been normal, so amniocentesis was not done. One mother had had one previous normal pregnancy; the other had had one miscarriage and during the subsequent affected pregnancy ultrasound scans had been normal on three occasions, including one at the 36th week of gestation. Neither serum nor amniotic-fluid A.F.P. distinguishes between fetuses with severe neurological impairment and those with a favourable prognosis.3 Thus, if all pregnancies with raised A.F.P. levels are terminated an appreciable number of potentially normal and near-normal individuals will be sacrificed.4 In a case in which the maternal serum and subsequent amniotic-fluid levels of A.F.P. were known to be raised the ultrasound scan and radiographs were normal on several occasions. Eventually, it was decided to allow the pregnancy to go to term, the parents being aware of the possibilities. The infant was born with a flat, open, lumbar lesion which was closed surgically. Despite some neurological deficit in the lower limbs, this child is now making satisfactory progress with limited handicaps. Had the obstetrician been more radical, the child would not have been born. Both serum and amniotic-fluid A.F.P. may be raised in the absence of spina bifida and many such cases have been reported in The Lancet. This fact is of particular concern when the fetus is normal or has an anomaly which is correctable. After a "routine screening test" a young primigravida was told that her baby would be born with spina bifida. An abortion was offered. She had not understood the nature of the blood test and was horrified to learn of the result. Because she had strong religious convictions, she refused even to consider termination. Both parents suffered severe anxiety throughout the following months, and when the baby was born with gas1. Lister, J., Zachary, R. B., Brereton, R. 161. 2. Clarke, M. Lancet, 1977, i, 1098. 3. U.K. Collaborative Study ibid. p. 1323. 4. Edwards, J. H. ibid. p. 700.
J. Progr. pædiat. Surg. 1977, 10,
All the cases referred to above were seen here during the past eight months, during which period 30 infants with neuraltube defects other than anencephaly were admitted to the neonatal surgical unit.
Department of Paediatric Surgery, Alder Hey Children’s Hospital, Liverpool L12 2AP
R. J. BRERETON R. E. CUDMORE I. M. IRVING J. LISTER NEBIL BUYUKPANUKCU
HIGH FREQUENCY OF NEURAL-TUBE DEFECTS IN NORTH INDIA
SiR,—Gathering data on the frequency of neural-tube defects (N.T.b.) is the first step towards unravelling the cause.’ I have collected information from published and unpublished sources on the rate of anencephaly and spina bifida among hospital births in India.2.3 Part of this information is summarised in the table, along with data from other areas of high frequency. Data from hospital births will overestimate the frequency of these defects in the general population. The figures might also
be affected by the obstetric practices of the hospitals. However, in the Indian hospitals for which data are listed most patients are from poorer income groups, so the case mix will differ only marginally from hospital to hospital. The frequency of open N.T.D. is high in Amritsar and Chandigarh (which have a high proportion of Sikhs) but also in Jaipur, Ajmer, Udaipur, and Delhi. These towns are in north India. The frequency is lower in Bombay, Madras, Calcutta, and Pondicherry. The frequency in Chandigarh, Jaipur, and Amritsar equals that recorded in Belfast and South Wales, while Ajmer, Udaipur, and Delhi have as high a frequency as Birmingham and Alexandria. The studies in South Wales and Birmingham covered hospital and home deliveries; the Belfast and Alexandria series were hospital births. The high prevalence of anencephaly among the Sikhs is well known,4.7 and is maintained even after migration to U.K. In the worldwide study of congenital malformations4 Prof. C. Phillips from Amritsar provided information that there were 25 cases of anencephaly among 6308 infants born to Sikh mothers while only 22 cases were observed among 10 361 infants of Hindu mothers. In a more recent compilation (unpublished) she recorded 34 cases of anencephaly among Sikhs and 11 among Hindus for total deliveries numbering 6532, a ratio of 3:1. The Sikh:Hindu ratio in the population served by the hospital is 3:2 (a breakdown of hospital deliveries by mother’s religion was not available). Although there is an excess of cases among the Sikhs, Hindus, both in Punjab and Rajasthan (Jaipur, Ajmer, and Udaipur), also have a high frequency compared with the rest of India. Moreover, there is historical and 1. Leck, I. Teratology, 1972, 5, 303. 2. Verma, I. C., Jacob, T. T. J. All-India Inst. med. Sci. 1976, 1, 164. 3. Verma, I. C. Medical Genetics in India. (In the press.) 4. Stevenson, A. C., Johnston, H. A., Stewart, M. I. P., Golding, D. R. Bull. Wld Hlth Org. 1966, 34, suppl. 9. 5. Laurence, K. M., Carter, C. O., David, P. A. Br. J. Prev. soc. Med. 1968,
22, 212. 6. Leck, I., Record, R. G., McKeown, T., Edwards, J. H. 263. 7. Leck, I. Br. J. prev. soc. Med. 1969, 23, 166.
Teratology, 1968, 1,
