Patel ZM, Adhia RA
http://www.100md.com
《美国医学杂志》
Abstract
OBJECTIVE: To study the overall frequency of congenital malformations in a city hospital in the first three days of life. METHODS: 17,653 consecutive newborns were examined and diagnosed at a maternity hospital by pediatricians and geneticists. Relevant information was documented on a predesigned proforma and analyzed. RESULTS: Of the 17,653 births 294 (1; 6%) had major malformations and 1400 (7.92%) had minor malformations. Amongst 17,653 births 328 (1.8%) were stillbirths. Malformations were highest in this group. Polygenic traits accounted for 45.1% while chromosomal etiology was found in 4%. A genetic basis was found in 65.4% of cases. CONCLUSION: With emphasis on "small family" norms & population control it is necessary to identify malformations so that Interventional programmes can be planned.
Keywords: Birth defects; Chromosomal syndromes
Advances in medicine have led to decline in diseases like infection and malnutrition, so the congenital malformations have emerged gaining great importance in perinatal mortality. Congenital malformations affect 2.5% of infants and are responsible for 15% of perinatal mortality.
Congenital malformation represents defects in morphogenesis during early fetal life. A WHO document in 1972, however, held that the term congenital malformations should be confined to structural defects at birth. Congenital malformations may be due to genetic, environmental or a combination of both these factors. The purpose of the present communication is to present the spectrum and course of congenital malformation in the fetus and new born so that it can help doctors and policy- makers to plan effective intervention programmes.
Materials and Methods
A prospective study of 17,653 consecutive births during two years at Nowrosjee Wadia Maternity Hospital, Mumbai, was undertaken in collaboration with the Genetic Centre to survey on overall incidence of malformations both major and minor. A detailed examination within 24-48 hours of birth of all babies was undertaken by a pediatrician. The distribution of all malformations and other relevant information regarding maternal age, birth age, gestational age, birth weight, consanguinity with malformation was documented on a predesigned proforma and analyzed. Radiological, biochemical and chromosomal investigations were performed whenever indicated. Autopsies were performed as and when the relatives allowed.
All babies were followed up after one month. Genetic counseling was given to all couples who had infants with birth defects. All data was recorded on a predesigned proforma.
Results
Out of 17,653 consecutive births, 294 (1.6%) had a major malformation and 1400 (7.92%) had minor malformation. There were 149 twin pregnancies, one triplet and the remaining singleton pregnancies. Amongst 17,653 births 328 (1.85%) were still births out of which 52 (15.8%) were malformed. Malformations led to early death in 40 (13.6%). The incidence of congenital anomalies was higher amongst still born than among live babies.
Discussion
With improved control of infection and nutritional deficiencies congenital malformations have become important causes of perinatal mortality. They account for 10-15% of neonatal deaths. A national collaborative community based study of ICMR reported that congenital malformations accounted for 6.6% of neonatal deaths in the slum dwellers.[1]
An overall incidence of congenital malformations in the present study was 1.63%. One of the earlier studies also reported an incidence of 1.6%. This is also consistent with other reported studies from various parts of India.[1],[2],[3],[4],[5],[6]
Analysis of an overall distribution of malformations in the present study showed that central nervous system was the commonest system involved.[7],[8] Consanguinity was found in 8.1%. The incidence of polygenic malformation ranked as high as 45%. Incidence of cleft lip, cleft palate and polydactyly compared well with the established data. 65% of malformations had genetic basis. Chromosomal disorders constituted 4%. The incidence of Trisomy 21 was 1 in 1200 at the age of 25. One more study where they have analyzed 26,810 consecutive births and found congenital defects in 3.88%.[9]
Regarding maternal factors and malformations the incidence of congenital malformations was higher in mothers > 35 years of age and when babies were < 100 gm in weight. Autosomal dominant conditions were found in 12% and recessive in 4%.
With greater emphasis on 'small family norms' and population control it is necessary to identify congenital malformation so that intervention programmes can be planned.
Acknowledgement
This manuscript (NIRRH/36/04) is supported by ICMR. The authors are also thankful to the Director, National Institute for Research in Reproductive Health and Dean, Nowrosjee Wadia Maternity Hospital, for allowing the project to be conducted at the hospital.
We acknowledge the help of Dr. K. Raghavan, Mrs. V. R. Mulye (Retd.), Dr. P. F. Madon and Dr. L. M. Ambani for their guidance and evaluating this manuscript.
References
1. A national Collaborative Study of identification of High Risk Families, Mothers and Outcome of their offsprings with particular reference to the problem of maternal nutrition, low birth weight, perintal and infant morbidity in rural and urban slum communities. Indian Council of Medical Research, New Delhi, 1990: 119-126.
2. Singh M. Hospital based data on perinatal and neonatal mortality in India. Indian Pediatr 1986; 23: 579-584.
3. Mishra PC, Baveja R. Congenital malformations in the newborn - A prospective study, Indian Pediatr 1989; 26: 32-35.
4. Verma M, Chaatwal J, Singh D. Congenital malformations - A retrospective study of 10,000 cases. Indian J Pediatr 1991; 58: 259-263.
5. Mathur BC, Karan WS, Vijayadevi KK. Congenital malformations in newborn. Indian Pediatr 1975; 12: 179-183.
6. Sugunbai NS, Mary M, Shamalan K, Nair PM. An etological study of congenital malformations in newborns. Indian Pediatr 1982; 19: 1003-1009.
7. Kulshrestha R, Nath LM, Upadhyaya P. Congenital malformations in liveborn infants in a rural community. Indian Pediatr 1983; 20: 45-49.
8. Aiyar RR, Agarwal JR. Observation on newborn. A study of 10,000 consecutive livebirths. Indian Pediatr 1969; 729-742.
9. Martinez-Frias ML, Bermejo E, Frias JL. Analysis of Deformations in 26,810 Consecutive Infants with Congenital Defects. Am J Med Genet 1999; 84: 365-368.(Genetic Research Centre, )
OBJECTIVE: To study the overall frequency of congenital malformations in a city hospital in the first three days of life. METHODS: 17,653 consecutive newborns were examined and diagnosed at a maternity hospital by pediatricians and geneticists. Relevant information was documented on a predesigned proforma and analyzed. RESULTS: Of the 17,653 births 294 (1; 6%) had major malformations and 1400 (7.92%) had minor malformations. Amongst 17,653 births 328 (1.8%) were stillbirths. Malformations were highest in this group. Polygenic traits accounted for 45.1% while chromosomal etiology was found in 4%. A genetic basis was found in 65.4% of cases. CONCLUSION: With emphasis on "small family" norms & population control it is necessary to identify malformations so that Interventional programmes can be planned.
Keywords: Birth defects; Chromosomal syndromes
Advances in medicine have led to decline in diseases like infection and malnutrition, so the congenital malformations have emerged gaining great importance in perinatal mortality. Congenital malformations affect 2.5% of infants and are responsible for 15% of perinatal mortality.
Congenital malformation represents defects in morphogenesis during early fetal life. A WHO document in 1972, however, held that the term congenital malformations should be confined to structural defects at birth. Congenital malformations may be due to genetic, environmental or a combination of both these factors. The purpose of the present communication is to present the spectrum and course of congenital malformation in the fetus and new born so that it can help doctors and policy- makers to plan effective intervention programmes.
Materials and Methods
A prospective study of 17,653 consecutive births during two years at Nowrosjee Wadia Maternity Hospital, Mumbai, was undertaken in collaboration with the Genetic Centre to survey on overall incidence of malformations both major and minor. A detailed examination within 24-48 hours of birth of all babies was undertaken by a pediatrician. The distribution of all malformations and other relevant information regarding maternal age, birth age, gestational age, birth weight, consanguinity with malformation was documented on a predesigned proforma and analyzed. Radiological, biochemical and chromosomal investigations were performed whenever indicated. Autopsies were performed as and when the relatives allowed.
All babies were followed up after one month. Genetic counseling was given to all couples who had infants with birth defects. All data was recorded on a predesigned proforma.
Results
Out of 17,653 consecutive births, 294 (1.6%) had a major malformation and 1400 (7.92%) had minor malformation. There were 149 twin pregnancies, one triplet and the remaining singleton pregnancies. Amongst 17,653 births 328 (1.85%) were still births out of which 52 (15.8%) were malformed. Malformations led to early death in 40 (13.6%). The incidence of congenital anomalies was higher amongst still born than among live babies.
Discussion
With improved control of infection and nutritional deficiencies congenital malformations have become important causes of perinatal mortality. They account for 10-15% of neonatal deaths. A national collaborative community based study of ICMR reported that congenital malformations accounted for 6.6% of neonatal deaths in the slum dwellers.[1]
An overall incidence of congenital malformations in the present study was 1.63%. One of the earlier studies also reported an incidence of 1.6%. This is also consistent with other reported studies from various parts of India.[1],[2],[3],[4],[5],[6]
Analysis of an overall distribution of malformations in the present study showed that central nervous system was the commonest system involved.[7],[8] Consanguinity was found in 8.1%. The incidence of polygenic malformation ranked as high as 45%. Incidence of cleft lip, cleft palate and polydactyly compared well with the established data. 65% of malformations had genetic basis. Chromosomal disorders constituted 4%. The incidence of Trisomy 21 was 1 in 1200 at the age of 25. One more study where they have analyzed 26,810 consecutive births and found congenital defects in 3.88%.[9]
Regarding maternal factors and malformations the incidence of congenital malformations was higher in mothers > 35 years of age and when babies were < 100 gm in weight. Autosomal dominant conditions were found in 12% and recessive in 4%.
With greater emphasis on 'small family norms' and population control it is necessary to identify congenital malformation so that intervention programmes can be planned.
Acknowledgement
This manuscript (NIRRH/36/04) is supported by ICMR. The authors are also thankful to the Director, National Institute for Research in Reproductive Health and Dean, Nowrosjee Wadia Maternity Hospital, for allowing the project to be conducted at the hospital.
We acknowledge the help of Dr. K. Raghavan, Mrs. V. R. Mulye (Retd.), Dr. P. F. Madon and Dr. L. M. Ambani for their guidance and evaluating this manuscript.
References
1. A national Collaborative Study of identification of High Risk Families, Mothers and Outcome of their offsprings with particular reference to the problem of maternal nutrition, low birth weight, perintal and infant morbidity in rural and urban slum communities. Indian Council of Medical Research, New Delhi, 1990: 119-126.
2. Singh M. Hospital based data on perinatal and neonatal mortality in India. Indian Pediatr 1986; 23: 579-584.
3. Mishra PC, Baveja R. Congenital malformations in the newborn - A prospective study, Indian Pediatr 1989; 26: 32-35.
4. Verma M, Chaatwal J, Singh D. Congenital malformations - A retrospective study of 10,000 cases. Indian J Pediatr 1991; 58: 259-263.
5. Mathur BC, Karan WS, Vijayadevi KK. Congenital malformations in newborn. Indian Pediatr 1975; 12: 179-183.
6. Sugunbai NS, Mary M, Shamalan K, Nair PM. An etological study of congenital malformations in newborns. Indian Pediatr 1982; 19: 1003-1009.
7. Kulshrestha R, Nath LM, Upadhyaya P. Congenital malformations in liveborn infants in a rural community. Indian Pediatr 1983; 20: 45-49.
8. Aiyar RR, Agarwal JR. Observation on newborn. A study of 10,000 consecutive livebirths. Indian Pediatr 1969; 729-742.
9. Martinez-Frias ML, Bermejo E, Frias JL. Analysis of Deformations in 26,810 Consecutive Infants with Congenital Defects. Am J Med Genet 1999; 84: 365-368.(Genetic Research Centre, )