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Easily Identifiable Congenital Malformations in Children: Survey of Incidence and Pattern in 32,332 Live Born Neonates

1992; King Faisal Specialist Hospital and Research Centre; Volume: 12; Issue: 4 Linguagem: Inglês

10.5144/0256-4947.1992.366

0975-4466

Nisar A. Mir, Weitold C. Galczek, Amrit L. Soni,

Ethics and Legal Issues in Pediatric Healthcare

Original ArticlesEasily Identifiable Congenital Malformations in Children: Survey of Incidence and Pattern in 32,332 Live Born Neonates Nisar A Mir, FRCP Weitold C. Galczek, and MD Amrit SoniMD Nisar A Mir Address reprint requests and correspondence to Prof. Mir: Department of Child Health, College of Medicine, King Saud University at Abha, P.O. Box 641, Abha, Saudi Arabia. From the Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Arab Medical University of Benghazi, Libya. , Weitold C. Galczek From the Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Arab Medical University of Benghazi, Libya. , and Amrit Soni From the Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Arab Medical University of Benghazi, Libya. Published Online::1 Jul 1992https://doi.org/10.5144/0256-4947.1992.366SectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutABSTRACTABSTRACTOver a period of two years, 33,332 live-born infants were screened for the presence of identifiable congenital malformations. Congenital anomalies were present in 2.38% of all infants; major and minor malformations were present in 79% and 21% of the cases, respectively. Anomalies in general and chromosomal anomalies in particular were more common in multiparous women of advanced age. Anatomical organs most frequently affected were musculoskeletal and cardiovascular systems; talipes, chromosomal anomalies and congenital cardiac defects being the most common. The incidence of congenital anomalies in infants of diabetic mothers was 13.8% compared with 3% in the non-diabetic population (P = < 0.01); multiple anomalies were present in 50% of the cases. Of a total of 770 infants born with malformations, 58 died during the early neonatal period with a mortality rate of 7.5% compared with an overall early neonatal death rate of 11.8/1000 live births.IntroductionWith the improvements in obstetric and neonatal care, there has been a steady decline in neonatal mortality from respiratory disease, infections, and asphyxia [1]. This has led to the emergence of congenital anomalies as an important cause of perinatal and neonatal mortality and morbidity [2]. There is a considerable ethnic and geographical variation in the incidence, frequency and distribution of various congenital malformations [3]. Reports on the prevalence and spectrum of congenital anomalies in the Arab population are sparse [2,4], although there are numerous reports on specific malformations [4–6]. The study concentrated on the epidemiological aspects of easily identifiable congenital anomalies in an urban area of eastern Libya. Data are given on the incidence, distribution, and pattern of congenital anomalies in this region.MATERIAL AND METHODSIn Benghazi, the second largest city of Libya in population, over 95% of deliveries take place at the Al-Jamihiria Maternity Hospital (main obstetrical hospital for the Arab University of Garyounis). All live born neonates were examined by a pediatrician/senior pediatric resident within the first 24-hours of birth and prior to discharge from the hospital. Standard physical examination included assessment of gestational age by the Dubowitz et al method [7]. Infants with malformations were re-examined as an inpatient and/or in the neonatal follow-up clinic and the final diagnosis was confirmed or revised. In addition to routine investigations, karyotyping, echocardiography, cranial/abdominal ultrasound examinations, and computed axial tomography (CAT) were performed as and when indicated. Because of sociocultural reasons, consent for autopsies was not given, hence no autopsies were performed. Major malformations were defined to include all those defects causing serious structural, cosmetic and/or functional disabilities requiring surgical or medical management.Over a period of 24-months, July 1982 to June 1984, a total of 32,332 consecutive live born babies were screened. Maternal and neonatal parameters of 770 infants diagnosed to have malformations were compared with those of a randomly selected control group of 2,268 normal infants without malformations born during the same period.For statistical calculations, Chi-square (x2), student t-test, and normal difference methods were used and a P value of < 0.05 was considered to be significant.RESULTSIn the survey population of 32,332 live born babies, 770 (2.38%) had easily identifiable congenital malformation(s) at birth. A total of 836 malformations were detected and their distribution and frequency is shown in Table 1. Major and minor malformations were present in 605 (78.7%) and 164 (21.3%) of the cases, respectively. Tables 2–5 relate the maternal age, parity, infant sex, birth weight and gestation to major and minor malformations. All of the six infants with diaphragmatic hernia and four of the six with tracheoesophageal fistula (TOF) were born to mothers with < 4 parity. Of the 124 infants with talipes, varus deformity was seen in 76 and valgus in 48 infants. Among the 78 infants with congenital dislocation of the hip (CDH), bilateral hip involvement was present in 24 and left hip was involved in 30 of the 54 infants with unilateral hip involvement. Ten neonates with CDH were born by breech delivery. Major acyanotic congenital defects observed in a total of 72 neonates were ventricular septal defect (40), patent ductus arteriosus (8), pulmonary stenosis (4), coarctation of aorta (4), atrial septal defect (2), and others (14). Congenital choanal atresia was bilateral in six of the eight cases.Table 1. Frequency of congenital malformations in different systems.Table 1. Frequency of congenital malformations in different systems.Table 2. Study population characteristics of major and minor anomalies.Table 2. Study population characteristics of major and minor anomalies.Table 3. Malformation in relation to maternal age.Table 3. Malformation in relation to maternal age.Table 4. Malformations in relation to maternal parity.Table 4. Malformations in relation to maternal parity.Table 5. Malformations in relation to infant's sex.Table 5. Malformations in relation to infant's sex.In Polydactyly, the extra digit varied in size from full sized digit to small excrescences but the majority were pedunculated appendages approximately 0.5 to 1 cm in length and attached close to the base of the little finger or fifth toe.Eighty-two infants had multiple malformations; 58 infants died during the early neonatal period with a mortality rate of 7.5% compared with an overall early neonatal death rate of 11.8/1000 live births.DISCUSSIONThis report based on a survey of congenital malformations seen in an urban hospital of eastern Libya is incomplete due to a number of reasons including lack of autopsy back-up and exclusion of fetal deaths. Nonetheless, the report does provide an approximate indication of the types and distribution of various easily recognizable malformations seen at birth in live born Arab population, being the first published report from the region.In a WHO study of 406,604 consecutive live births in 24 centers of the world, 4571 (1.12%) were identified to have congenital anomalies. Overall incidence of malformations observed in our study was 2.38% when compared with 1.4% in Zaria Nigeria [8], 0.38% in Alexandria, Egypt [4], 1.54% in southern Iran [9], and 4.7% in British Columbia, Canada [10]. The reported incidence of major malformation from selected centers are compared in Table 6.Table 6. Incidence of major malformations.Table 6. Incidence of major malformations.Since more working women are delaying child bearing to an older age, the relationship of chromosomal and nonchromosomal anomalies with maternal age are constantly under review [10]. In the present study, all congenital anomalies in general and chromosomal anomalies in particular were more common among multiparous women of advanced age [14].The anatomical organs most frequently affected were the musculoskeletal and cardiovascular system, talipes, chromosomal anomalies and congenital cardiac defects being the most common anomalies encountered.Musculoskeletal malformations account for over one-third of all anomalies [15], talipes, CDH and Polydactyly being the most common. Equinovarus deformity was observed to be three times more common than valgus deformity and over sixfold more common in the female sex. Congenital hip dislocation was bilateral in 33% and was observed to be more frequently associated with breech delivery and among infants born to mothers of advanced age; it is more common in females and often associated with other major anomalies [16]. Trisomy 21 is the most common chromosomal anomaly and accounts for over 60% of all chromosomal anomalies. Controversy exists as to the effect of race on the incidence of the condition with lower rates being reported from Asian races [17]. An incidence of 1.7%, observed in the present series, is comparable to reports from Europe and North America [17]. Its seasonal relationship, with a higher incidence in winter, is well documented [18]. In the present study, 45% of the neonates with trisomy 21 were born between the months of November to February. Over one-third of the cases were associated with multiple anomalies, cardiac and gastrointestinal being the most common.The prevalence of congenital cardiovascular defects in Benghazi is probably much higher than our present observation of 3.15/1000 live births. First, screening methods did not extend beyond the first week, thus many infants with "silent" and asymptomatic defects may have been missed.In one of our studies among infants diagnosed to have coarctation of the aorta during the neonatal period, 20% were missed during the routine postnatal physical examination [19]. Secondly, many babies, especially those of low birth weight group with fatal pulmonary disease, may have had associated intracardiac defects or PDA and diagnosis could not be ascertained for lack of autopsy [18]. In the present study, among the specific cardiovascular malformations, ventricular septal defect (VSD) was the most common acyanotic cardiac anomaly and transportations of great vessels as the principal cyanotic cardiovascular defect [18].Neural tube defects (NTD) constitute over 5% of all anomalies with an incidence of 1.36/1000 live births. Anencephaly has a wide geographical variation with a high frequency in northern Ireland and lower prevalence among Blacks and Mongoloids [20]. An incidence above 3% has been reported from Kuwait [21] and Lebanon [6]. The incidence of anencephaly and spina bifida cystica was observed to be low in our series, 0.43 and 0.37/1000 live births, respectively; there were more females than males and 50% of the cases were born during the winter season. We were unable to demonstrate any relationship between social class and prevalence of neural tube defects when comparing the uneducated class with those with formal education [8].In developed countries, the nearly ninefold reduction in infant mortality achieved during the last 100 years has left congenital malformation as the single largest cause of infant loss and attention in public health and medical research has turned towards the prevention of malformations [22]. In developing countries, congenital anomalies represent second to fourth important causes of perinatal mortality and perhaps one of the major causes of morbidity [1,2]. The notified number of children born alive with spina bifida has been used to estimate the number surviving by subtracting those found on birth certificates from those reported to have died as per fetal and neonatal death certificates. These estimates are of importance in planning for future services for disabled children. Hence, the first step towards dealing with this entity would be to develop an effective system for surveillance of congenital malformations.Etiology of most of the congenital malformations remains unknown [23]. However, epidemiological evidence has led to the incrimination of a number of agents as teratogens by a combination of descriptive, co-relative, analytic and experimental studies. Recognition of association between thalidomide intake during pregnancy and the occurrence of fetal phocomelia was the first step towards prevention of this anomaly in the 1960s. Most surveys of common malformations have been of value to clarify the relative importance of the parts that genotype and environment play in causation. For example, it now seems that liability of neural tube defects is influenced much more by environment and less by genotype than is the case for cleft lip [23]. The incidence of anencephaly in Kuwait declined from 3.2 to 1.33/1000 births over a period of 15-years and this has been attributed to the improvement of food intake and changes in diet [24]. Diabetic mothers run a considerable risk of having a malformed child as compared with non-diabetic mothers [25]. In the present study, the incidence of congenital malformations in diabetic pregnancies was 13.8% compared with 3% in the non-diabetic population and multiple malformations were present in over 50% of the cases. There is now ample animal experimental evidence to support the concept that excess glucose in early fetal life is a major teratogen [26]. Hence, an optimal management of diabetic pregnancy with control of plasma glucose and glycosylated hemoglobin values close to normal in early pregnancy have resulted in reduction of congenital anomalies in these pregnancies [27]. The influences that produce most cases of malformations, whether genetic or environmental, are multiple and if even one of these influences can be identified and controlled, the incidence might fall substantially. The population in Benghazi is predominantly Arab with some admixture of Caucasian and Black races. Consanguineous marriages are common in traditional Arab and Muslim communities; the incidence of congenital malformations are more common in newborns of consanguineous than in the non-consanguineous parents [10]. However, there is a need to undertake further studies to evaluate the influence of dietary, social, cultural, and other environmental factors on the prevalence of congenital anomalies in these communities.ARTICLE REFERENCES:1. Mir NA, Albin Z, Faquih A, et al.. Organization of neonatal intensive care and perinatal mortality in Libya. In: Rolfe P, ed. Fetal and physiological measurements. London: Butterworths; 1986; 44:114–317. Google Scholar2. Serenius F, Swailem AR, Edressee AW, Ohlsson A. "Causes of perinatal death at a Saudi maternity hospital" . Acta Pediatr Scand Suppl. 1988; 346:70–9. Google Scholar3. Emery AEH, Rimion D. Nature and incidence of genetic diseases. In: Principles and practice of medical genetics. New York: Churchill Livingstone; 1983;1–3. Google Scholar4. 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Google Scholar Previous article Next article FiguresReferencesRelatedDetailsCited byAsindi A, Al Hifzi I and Bassuni W (2019) Major Congenital Malformations among Saudi Infants Admitted to Asir Central Hospital, Annals of Saudi Medicine , 17:2, (250-253), Online publication date: 1-Mar-1997.Refat M, Al-Moghanem M, McDonald P and Reyes L (2019) Major Birth Defects at King Fahd Hofuf Hospital: Prevalence, Risk Factors and Outcome, Annals of Saudi Medicine , 15:4, (339-343), Online publication date: 1-Jul-1995.Hegazy I, Al-Beyari T, Al-Amri A, Qureshi N and Abdelgadir M (1995) Congenital Malformations in Primary Health Care in Al-Qassim Region, Annals of Saudi Medicine , 15:1, (48-53), Online publication date: 1-Jan-1995.Jaiyesimi O and Ruberu D (1994) Noncardiac Defects in Children With Congenital Heart Disease, Annals of Saudi Medicine , 14:3, (183-186), Online publication date: 1-May-1994. Volume 12, Issue 4July 1992 Metrics History Accepted9 September 1991Published online1 July 1992 InformationCopyright © 1992, Annals of Saudi MedicinePDF download