Congenital malformations at birth — A prospective study from south India

Congenital malformations were studied prospectively from September 1989 to December 1992 covering 12,797 consecutive deliveries. The overall incidence of malformations was 3.7% and it was 3.2% among live births and 15.7% among still births. Three hundred and ninety seven birth defects were observed among 308 live births and 72 among 45 still births. The incidence of malformation was significantly higher among male babies (p <0.001), still births (p < 0.001), low birth weights (p < 0.001) and preterm babies (p < 0.001). Consanguinity among parents of malformed babies was more common (p < 0.001). Musculo-skeletal malformations were the commonest (9.69 per 1000) followed by cutaneous (6.33 per 1000), genitourinary (5.47 per. 1000), gastrointestinal (5.47 per 1000), central nervous system (3.99 per 1000) and cardiac anomalies (2.03 per 1000). Musculoskeletal, cutaneous and genitourinary malformations were common among live born babies while central nervous system and gastrointestinal defects were common among still born babies. Antenatal infections and ingestion of drugs were not found to be significant factors in the causation of birth defects.     

Profile of major congenital malformations at Nizwa Hospital, Oman: 10-year review

OBJECTIVE: The objective of this study was to establish the profile of major congenital malformations at Nizwa Hospital, which is a major hospital in the Al-Dakhliya region of Oman. METHODS: All births with birthweight more than 500 g were prospectively studied from January 1993 through December 2002 for a period of 10 years. A congenital anomaly register was maintained in the special care baby unit (SCBU) and details of each case were recorded after parents' interviews, clinical evaluation and relevant radiological and laboratory investigations. The major malformations were classified as multiple or single-system abnormalities as well as genetic or non-genetic disorders. RESULTS: Of the 21 988 births during the study period, 541 babies (24.6 per 1000 births) had major malformations. Of the 541 babies, 158 (29.2%) had multiple malformations and 335 (61.9%) had involvement of a single system. In 48 (8.9%) babies a complete evaluation was not possible. Of the cases with multiple abnormalities, 57 had recognized syndromes, of which 28 (49.1%) were autosomal recessive disorders. Seventy (12.9%) cases had chromosomal abnormalities. The most common systems involved in neonates with single-system malformations were the gastrointestinal system (100 cases), the central nervous system (79 cases) and the cardiovascular system (63 cases). Although the consanguinity rate of 53.1% among Omani births almost matched with the regional average of 52.7%, it was 76% among those with major malformations. Also, there was an increased clustering of multiple abnormalities and rare recessive disorders in cases with closely related parents and grandparents. The birth prevalence of major malformations was 14.6 per 1000 in non-Omani births as compared to 25.2 in Omani births (P < 0.05). Genetic factors could be implicated in 343 (63.4%) cases and 130 (37.9%) of these were potentially preventable. CONCLUSION: Genetic disorders account for a significant proportion of congenital malformations in Oman.     

Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94

AIM: To describe the prevalence of anophthalmia/microphthalmia in babies born in England 1988-94, as well as their overall survival, and the incidence of associated eye and non-eye malformations; to determine the usefulness of different sources of medical and health service information for establishing a retrospective register of anophthalmia/microphthalmia. METHODS: Multiple sources for initial (retrospective) case ascertainment were surveyed, followed by questionnaires to clinicians to establish severity, associated malformations, and aetiology for England, 1988-94. The population surveyed was all births in England for this time period (4,570,350 births). Cases included live births, stillbirths, or terminations after prenatal diagnosis of congenital anomaly, with anophthalmia/microphthalmia, with or without other malformations and syndromes. Trisomy 13 was subsequently excluded. RESULTS: The proportion of cases notified by any one information source was not more than 26% (Office for National Statistics Register 22%, paediatricians 26%, district sources 25%). Sixty nine per cent of cases (51% of severe cases) were notified by only one source. A total of 449 cases were reported, prevalence 1.0 per 10,000 births. The prevalence was stable over time, although the proportion notified by clinicians rose in more recent years. Thirty four per cent of affected babies had mild microphthalmia. Of those with severe anophthalmia/microphthalmia, 51% were bilateral, other eye malformations were present in 72%, non-eye malformations in 65%, and a "known aetiology" was attributed in 22%. Three quarters of those severely affected survived infancy. CONCLUSIONS: Despite high response rates from the sources of information contacted, the lack of duplication between sources indicates the difficulties of retrospective ascertainment and the need for multiple sources when establishing a register. Anophthalmos/microphthalmos is usually associated with other malformations. Most cases are of unknown aetiology.     

Congenital malformations—A retrospective study of 10,000 cases

The frequency of congenital malformations in a retrospective study done on 10,000 consecutive births from January 1983 to March 1989 was 3.6%. The predominant system involved was CNS. Major malformations constituted 79.7% of the total. Malformations were seen 4 times more often among still births. The common malformations in still births were also of CNS. The frequency of malformations was similar in both the sexes, though genitourinary anomalies were commoner among male, while anencephaly in female babies. A statistically significant increase in the frequency of congenital malformations was observed with decreasing gestation and birth weight. There was a significant correlation between maternal factors, like previous abortions, drug intake and fever during 1st trimester, diabetes mellitus, pre-eclamptic toxemia, antepartum hemorrhage and congenital malformations in the baby.     

East-West differentials in congenital malformations in India

A survey of the congenitally anomalous babies revealed the incidence to be 2.08% at birth in 1774 births from 1736 mothers who delivered in Banaras Hindu University Hospital during a period of 12 months (1978–79). The congenital anomalies were significantly more (p< 0.01) in still borns (6.6%) as compared to live borns (1.9%). Of the 32 live born anomalous babies, 34% were premature. A marked geographical difference in the incidence of malformed babies from East to West was noted (0.31% to 3.6%). The musculoskeletal system was most frequently involved followed by gastrointestinal system and C.N.S. Various factors like mother’s age, parity, sex of the newborn, parents’ socioeconomic status and prematurity, in relation to incidence of malformation are discussed.     

Congenital malformation among newborns at Dr. Pirngadi Hospital Medan during 1981-1984

A study on the incidence of congenital malformation had been assessed among 15,185 newborns delivered in the Neonatal Unit, Dr. Pirngadi Hospital Medan during 1981-1984. Still-births were not included in this study. Out of these 15,185 newborns there were 77 cases (0.51%) of congenital malformation. The four leading malformations were pes-equinovarus 7 cases (9.1%), labiognathopalatoschizis, hydrocephalus and anencephalus 6 cases each (7.7%). The number of congenital malformations was higher in the age group of mothers older than 35 years (0.78%) and in the group of babies born in the birth order as third and further (53.85%) and as first born babies (33.33%). From 77 cases with congenital malformation only 2 (2.56%) were operated soon after birth, while 49 cases (64.1%) went home without surgical intervention, and 28 cases (35.9%) died during hospitalization.     

Perinatal autopsy—A seven-year study

A retrospective analysis of autopsies conducted on perinatal deaths during 7 years period (Oct 1983 to Sept 1990) was done. There were 650 neonatal deaths and 944 still births during the study period. Autopsy rates among neonates and still births were 33% and 4.9% respectively. There ware significant findings in 97.2% of neonatal deaths and in all still births. Pulmonary lesions followed by congenital malformations were the major pathological findings. Infection was observed among smaller number of babies compared to other Indian studies. Autopsy revealed many internal congenital malformations which were not diagnosed clinically. Autopsy changed or added to clinical diagnosis in 59.5% of cases. Perinatal autopsy is highly productive in our set up.     

Perinatal and neonatal mortality and morbidity in central Switzerland in 1982. An analysis of all newborns in a geographically circumscribed region

In assessment of the perinatal situation in Central Switzerland, all 5616 infants born in the geographically surrounding areas of the Children's Hospital Lucerne have been statistically evaluated, according to birth place, birth weight, gestational age, perinatal condition, and postnatal development. 76 infants (1.4%) were born at home, 417 births (7.5%) took place before the completed 37th gestational week. Only 5.8% of our newborns had weights below the 10th percentile according to the Winterthur percentile curves used in Switzerland. The perinatal mortality was 12.9%, the neonatal mortality 7.1%. 2/3 of the deaths concern either extremely premature babies or infants with severe congenital malformations. The recorded malformations coincide with the known incidence, with the exception of trisomy 21, which marked an incidence of 1:1400. 8% of all live-born babies (499) needed special neonatal care. Among the preterm infants, every 2nd, and among the full-term babies every 12th had to be transferred to the neonatal care unit. Most of the transferrals were due to simple disturbances of adaptation (6% of all live-borns), whereas 1% required intensive care because of severe disorders. In 50 babies (1% of all live-borns), the neonatal diagnosis allows to anticipate a reduction of the quality of life.     

Congenital malformations at birth among liveborn infants in Afghanistan,a prospective study

In a prospective study of 5,276 consecutive liveborn babies, 291 (5.5%) infants were diagnosed to have 473 congenital malformations. The incidence of major and minor malformations was 2.4 per cent and 3.1 percent respectively. Musculoskeletal defects accounted for 41.7 per cent of major anomalies. Among individual anomalies, congenital dislocation of hips, cleft lip±palate, microcephaly, club feet, polydactyly, hypospadias, Down syndrome and asymmetric crying facies had a frequency greater than 1 per 1000 livebirths. The incidence of neural tube defects was 3 per 1000 total births. The history of parental consanguinity was significantly higher among parents of infants with major congenital malformations as compared to unaffected control infants.     

Congenital malformations in the newborn

Summary 5,376 consecutive births were examined for the presence of congenital malformations, to find out its incidence and to determine the role of environmental factors in the causation of these anomalies. The incidence was 13.76 per one thousand births. Males dominated among the malformed infants with an incidence of 67.56 per cent. The maximum number of malformed children were born to mothers in the third pregnancy, constituting a percentage of 37.83. Prematures accounted for 17.56 per cent of all the malformed births. The incidence of congenital malformations among prematures was 3.8 per cent. Infants with central nervous system anomalies formed the major group with an incidence of 40.54 per cent among the affected infants. 31 per cent resulted in still births. The incidence of congenital malformations among still-births was 7.58 per cent. Hydramnios during pregnancy was observed in five cases (6.75 per cent). A history of chicken pox and measles in the first trimester of pregnancy was elicited in two mothers (2.7 per cent). Advanced maternal age and parity were linked in six cases of mongolism. A history of increased vaginal bleeding in early pregnancy was obtained in four cses (5.4%). A history of consangunity was present in two infants. No other significant etiological factors could be determined in any case. From the Department of Pediatrics, Patna University and Medical College Hospital, Patna.     

Frequency of birth defects. Study of a maternity hospital in Paris]

A retrospective study of 20,591 live born babies and still birth was made in order to estimate the incidence of congenital malformations total and by type diagnosed at birth. The total incidence is 1,74 p. 100. The sex ratio, the mean birth rank and parental ages were computed for the different types of malformation and in the control group. The birth weight was low in case of severe malformation. It was found that malformations were associated with significantly raised abortions and still birth rates among previous pregnancies.     

Children conceived by in vitro fertilisation after fresh embryo transfer

AIMS—To compare the outcome in in vitro fertilisation (IVF) children (after fresh embryo transfer) from multiple and singleton births with one another, and with normally conceived control children.METHODS—A cohort of 278 children (150 singletons, 100 twins, 24 triplets and four quadruplets), conceived by IVF after three fresh embryos had been transferred, born between October 1984 and December 1991, and 278 normally conceived control children (all singletons), were followed up for four years after birth. They were assessed for neonatal conditions, minor congenital anomalies, major congenital malformations, cerebral palsy and other disabilities. Control children, all born at term, were matched for age, sex and social class.RESULTS—The ratio of male:female births was 1.03. Forty six per cent of IVF children were from multiple births; 34.9% were from preterm deliveries; and 43.2% weighed less than 2500 g at birth. The IVF singletons were on average born one week earlier than the controls, weighed 400 g less, and had a threefold greater chance of being born by caesarean section. The higher percentage of preterm deliveries was largely due to multiple births and they contributed to neonatal conditions in 45.0% of all IVF children. The types of congenital abnormalities varied: 3.6% of IVF children and 2.5% of controls had minor congenital anomalies, and 2.5% of IVF children and none of the controls had major congenital malformations. The numbers of each specific type of congenital abnormality were small and were not significantly related to multiple births. IVF children (2.1%) and 0.4% of the controls had mild/moderate disabilities. They were all from multiple births, including two children with cerebral palsy who were triplets.CONCLUSIONS—The outcome of IVF treatment leading to multiple births is less satisfactory than that in singletons because of neonatal conditions associated with preterm delivery and disabilities in later childhood. A reduction of multiple pregnancies by limiting the transfer of embryos to two instead of three remains a high priority.     

Risk factors and outcomes associated with low birthweight delivery in the Australian Capital Territory 1989-90

: The objectives of this study were to describe outcomes of low birthweight (LBW; >2500g) babies born in the Australian Capital Territory (ACT) and to identify risk factors associated with LBW in the ACT. A cohort study was conducted involving all births recorded in the ACT Maternal and Perinatal Data Collection sets for 1989-90.
Status at discharge is presented for 9373 births each weighing more than 499 g born in the ACT in 1989 and 1990, classified by birthweight. Other outcomes are given for live births (n = 9309) only. Adjusted odds ratios for significant risk factors for LBW are given for 9084 singleton births whose computer records contained all relevant information.
Perinatal mortality rates for LBW babies are consistent with other States, apart from 500-999 and 1500-1999g babies which have higher rates. Eighteen per cent of LBW babies are transferred to other hospitals. Low birthweight babies are more likely than normal birthweight babies to have 1 and 5 min Apgar scores less than 7, to need resuscitation and to take more than 5 min to establish respiration. Risk of LBW is associated with maternal primiparity, age 35 years or more in primiparous women, history of one or more spontaneous abortions, induced abortions or perinatal deaths, chronic illness, public health insurance and single marital status, and with fetal female sex and congenital anomalies.
Babies born weighing less than 2500 g in the ACT have more adverse outcomes and are much more likely to be transferred than normal birthweight babies. Modifiable risk factors for LBW relate to lower maternal socio-economic status. Measures to decrease the incidence of LBW and its subsequent costs will have greatest gains in this group of women.     

Causes of early neonatal mortality.

The early neonatal period extends up to the 7th day of the infant's life. 75% of infant deaths occur within the first 28 days of life, and most of them occur within the first 7 days. In a retrospective study undertaken from June 1, 1987, to May 31, 1990, data was obtained from the Neonatal Care Section of Krishna Hospital, Karad, District Satara, in south western Maharashtra. Most of the villagers wee of low socioeconomic status, and the women had poor educational level. Most of the deliveries in this area are conducted by untrained dais under unhygienic conditions. The early neonatal mortality rate (ENMR) was defined as neonatal death of babies weighing over 1000 g during the first 7 days per 1000 live births. A total of 1013 live births with weight more than 1000 g were included in the study: 533 wee males and 480 females. The incidence of low-birth-weight (=or- 2.5 kg) babies was 77.1%, and that of prematurity (gestational age 37 weeks) was 58.9%. There were 37 neonatal deaths, with an ENMR of 36.6. The chief causes of ENMR were perinatal asphyxia (40.5%), prematurity (29.7%), bacterial infections (27.0%), and congenital malformations (2.8%). The mortality was higher in low-birth-weight as compared to the normal-birth-weight babies. A total of 59% of all births were preterms who contributed to 29.7% of deaths. The high incidence of low-birth-weight babies was attributable to the fact that this hospital received 79.4% of total admissions for delivery of complicated pregnancy referrals from the peripheries. The difference between mortality of babies with birth weight of less than and more than 2.5 kg was statistically significant (p0.05). Regular antenatal checkups, health education of pregnant and lactating mothers, professional child delivery, and timely referral of pregnancy complications to well-equipped hospitals may cut down on early neonatal mortality.     

Study of 1,26,266 consecutive births for major congenital defects

Retrospective study was carried out in 1,15,851 consecutive births in five hospitals, and prospective study of 10,415 consecutive births in one hospital of West Bengal. The overall frequency of congenital defects was 4.42/1000 live births. Incidence of NTD and talipes was predominant in rainy season, whereas cleft palate with/without hare lip had highest frequency during winter. Incidence of these anomalies decreased with increasing birth order. The frequency was noted to decline with increasing maternal age, 21–25 years age group had maximum number of malformed babies. Sex ratio and religion, however, did not have any correlation with the incidence of these malformations. When comparison was done between urban and rural population no statistically significant variation was observed.     

Congenital malformations in a series of 66,068 consecutive births

Registration of congenital malformations began in 1979 in the French department of Bas-Rhin. 99.97% of all births were screened. We studied 66,068 consecutive births between 1979 and 1983. Malformations were present in 1.6% of neonates. The incidence of major malformations was 2.01%. The most frequent malformations consisted of congenital heart defects 33.9%). The incidence of the various congenital malformations was studied. Improvement of registration of congenital malformations was the consequence of postnatal and prenatal use of ultrasonography. An increase in the incidence of malformed neonates and fetuses was registered (1.31% in 1980; 2.13% in 1983). The number of termination of pregnancy because of the prenatal discovery of a major malformation has been increasing.     

Epidemiology of low birth weight in Ahmedabad

The study to elucidate epidemiological features of LBW (low birth weight) babies shows incidence of LBW to be 20·37%, out of 481 single births studied in 1982. 6·03% were small for gestational age (SGA). Of LBW babies 61·22% were born preterm (<37 weeks) as compared to 31·85% of normal babies. Of preterm babies 3·3% were SGA, while 7·69% of fullterm babies were SGA. SGA babies were found to be significantly related to parity, being most common in primi, and without antenatal care (ANC). Younger (15–25 years), shorter and primipara mothers were more likely to give birth to LBW babies. Of mothers giving birth to normal babies 85·52% had taken ANC, as compared to 67·34% giving birth to LBW babies. SGA was more common in mothers who had not taken ANC. Young, short and primipara mothers, who are prone to give birth to LBW babies should be detected early and brought under qualitative ANC.     

Foetal co-relates and mode of delivery in asphyxia neonatorum

A prospective study was conducted on consequitively born live births for determining the role of certain foetal factors and mode of delivery on asphyxia neonatorum. The difference in the incidence of neonatal asphxia in 1208 singleton births (8.5%) and in the 66 multiple births (9.7%) was statistically significantly (p<0.01). Among the singleton live births a significantly increased incidence of asphyxia was recorded in preterms when compared to term and post term babies collectively (p<0.001). Small for date babies were at a greater risk for asphxia neonatorum when compared to babies weighing appropriate for gestational age (p<0.001). An inverse relationship was observed between birth weight and asphyxia neonatorum. A significant difference was seen in the occurrence of neonatal asphyxia between babies weighing <2000 g. and those weighing more than 2000 g. (p<0.001). The incidence was significantly influenced by mode of delivery, being highest in vaginal breech delivery followed in decreasing frequency by forceps and normal vaginal delivery. Among vaginal breech delivered neonates those weighing ≥2500 g were at the highest risk. Evidence of foetal distress and meconium stained amniotic fluid had a low predictability of asphyxia being 35.0% and 40.0% respectively though both were statistically significant (p<0.001).     

Neural tube defects in pondicherry

Objective: This study was carried out to identify the trend and the frequency of neural tube defects from July 1998 to June 2004.Methods; A total of 310 babies were born with neural tube defects with the overall frequency of 5.7/1000 births compared to 2.3/1000 births observed earlier in our hospital.Results : The most common defect was spina bifida (54.8%) followed by anencephaly (31.6%), and encephalocele (11.6%). More neural tube defects were observed in female and low birth weight babies, still births and unbooked mothers. Neural tube defect was significantly higher among babies born to parents of consanguineous marriage (p<0.01). Associated congenital defects were observed in thirty nine (12.6%) cases.Conclusion: The rise in the frequency of NTDS may indicate the current trend of NTDs in Southern India. A further prospective study is desired to measure the effectiveness of regular folic acid supplementation in bringing down this frequency