External Congenital Anomalies Research Articles

Magnitude, risk factors and immediate outcome of external congenital anomalies in neonates in government Cuddalore medical college and hospital: an observational study

Background: Despite the enormous incidence of congenital malformations in developing countries, there are presently few thorough data on these disorders because there are no birth defect registries. This study was conducted with objectives to determine the magnitude, risk factors and outcomes of external congenital anomalies in neonates born in government Cuddalore medical college and hospital. Methods: The present study is an observational study. All the neonates born during the study period were included in our study and risk factors and outcome of 201 babies born with external congenital anomalies were analyzed in detail. Results: The incidence of external congenital anomalies is 5.68% with 33% having major and 63% having minor anomalies. Among the major anomalies cleft lip and/or palate is the most common anomaly (5%) in our study. Overall sacral dimple is the most commonly observed external congenital anomaly (9.50%). Four-fifths of the newborns with external congenital anomalies were discharged. About 13% of the newborns with congenital anomalies expired. Conclusions: A comprehensive package that includes preventive services, diagnostic, surgical or medical intervention, financial assistance, counselling, and psychosocial support, as well as follow-up treatments like rehabilitation, is required in combating the incidence of congenital anomalies.

Clinico-radiological correlation of pituitary stalk interruption syndrome in children with growth hormone deficiency.

To analyze the clinical, hormonal, and radiological characteristics of Pituitary stalk interruption syndrome (PSIS) in children with growth hormone deficiency (GHD). This is a prospective cross-sectional study, conducted over a period of three years in a short stature clinic of tertiary care referral hospital. 57 severe short stature children with proven GHD were included in the study. Among 57 children with GHD, 14 (24%) were diagnosed as PSIS. The mean age at diagnosis was 11.8 ± 2.6years. The male to female ratio was 2.5:1. Nine (64%) children had multiple pituitary hormone deficiency (MPHD) and 5 (36%) had isolated growth hormone deficiency (IGHD). In spite of absent or ectopic posterior pituitary (EPP)in Magnetic Resonance Imaging (MRI) of PSIS cohorts, only one had Arginine vasopressin (AVP) deficiency. EPP was seen near median eminence in 6 (44%), elsewhere in 4 (28%), and absent in 4 (28%)children. The height gain following growth hormone therapy was better in PSIS cohorts as compared to non-PSIS. Male gender, breech presentation, external congenital anomalies like cryptorchidism, midline defects and nystagmus were more common in children with PSIS. MPHD were more frequently seen in PSIS whereas IGHD in non-PSIS cohort. AVP deficiency is very rare in PSIS despite of absent or ectopic posterior pituitary in MRI. High index of clinical suspicion in all severe short stature may lead to early diagnosis and prompt initiation of growth hormone treatment for better outcome.

External Structural Congenital Anomalies Diagnosed at Birth in Tamale Teaching Hospital

Background: In the year 2013, about 276,000 of the 2.71 million neonatal deaths were directly attributable to congenital anomalies of which an estimated 95%, occurred in low and middle-income countries.Materials and method: This study was part of surveillance on external structural congenital anomalies conducted in the Tamale teaching hospital from 1st January 2011 to 31st December 2015. Aggregate data on maternal characteristics and outcome of deliverywere collected from the records in the antenatal clinics, labour and delivery room, and midwifery monthly returns.Results: A total of 35,383 live births were recorded in the study. Overall, 161 external congenital anomalies were recorded over the period. The overall incidence of external congenital anomalies over the five-year period was 455 per 100,000 live births. The gastrointestinal (GIT) system accounted for (77) 47.8%, Central nervous system (65) 40.4%, Major musculoskeletal (9) 5.6%, Genitourinary system about (2) 1.2%, Multisystemic and syndromes accounted for (8) 5.0% of all external structural congenital anomalies. The incidence of specific congenital anomalies found during the study period were as follows; Spina bifida 104.6 per 100,000 live births, Exomphalus/omphalocele 84.8 per 100,000 live births and Anencephaly 5.7 per 100,000 live births. The incidenceof Oro-facial cleft, Hydrocephalus and Imperforate anus were 73.5, 48.0 and 39.6 per 100,000 live births respectively.Conclusion: External structural congenital anomalies rate in the northern sector of Ghana is unacceptably high. Trend analysis has demonstrated the steady decline in neural tube defects.

Incidence of neural tube defects and other external congenital anomalies among newborn

Background: Congenital malformations are becoming an important cause of neonatal death due to reduction of mortality by other common causes of death owing to the improvement of neonatal care. Routine physical examination of every newborn is important for multiple purposes including exploration of external congenital anomalies. Objective: To determine the incidence of Neural Tube Defects (NTDs) and other external congenital anomalies that can be detected by routine physical examination only. Methods: It was an observational cross sectional study. This study was conducted in the department of Pediatrics and Obstetrics of Khulna Medical College Hospital from June 2016 to May 2017. All the delivered newborn in Obstetrics ward and the neonates in the pediatrics ward were included in the study. The babies were examined immediately after delivery or admission. A detailed history including potential risk factors was taken and a thorough physical examination was performed. All the relevant information was noted in a predesigned questionnaire. Results: A total of 4,462 neonates were studied in pediatrics and obstetrics ward. Thirty four (0.76%) cases of congenital anomalies were found during one year. Neural tube defects were observed in 4 (0.04%) cases only. No other risk factor except folic acid intake was related with them. Congenital anomalies most frequently involved the musculoskeletal system (29.4%). Conclusion: Routine physical examination of newborn can identify a significant number of congenital anomalies. Non-intake of folic acid during preconceptional and antenatal period is the single-most risk factor for NTDs.

Congenital heart disease in neonates with external congenital anomalies in Jos, Nigeria

Background: Congenital heart disease (CHD) has been found to be more common in neonates with other congenital anomalies and may worsen prognosis. Early diagnosis and treatment of internal congenital anomalies including CHD will improve outcome and decrease neonatal mortality. This study determined the prevalence of CHD among neonates seen with external congenital anomalies in Jos, Nigeria. Materials and Methods: We performed complete physical examinations on 2,340 neonates delivered in two tertiary hospitals in Jos, Nigeria. We identified neonates with external congenital anomalies and determined the prevalence of congenital heart defects in them using echocardiography. Data were analysed using STATA 14.0. Results: External congenital anomalies were present in 49 of the 2,340 neonates recruited − prevalence of 20.9 per 1,000, with a male to female ratio of 1.1:1. Fourteen (28.6%) neonates were syndromic. CHD was present in 15 of 49 (30.6%) neonates studied– prevalence 30.6 per 100. The mean age of the parents with neonates who had external congenital anomalies and CHD was significantly higher than those without CHD. Conclusion: CHD frequently co-exists with external congenital anomalies especially in syndromic neonates. Hospital-based surveillance systems are needed to capture accurately both internal and external congenital anomalies to improve outcome in these group of neonates.

Hospital Based Birth Defect Surveillance in a Tertiary Care Centre

<div><p><em>According to WHO in 2010, an estimated 270000 deaths globally were attributable to congenital anomalies during first 28 days of life. In an effort to decrease the number of congenital anomalies worldwide, 63<sup>rd</sup> the WHO adopted a birth defects resolution. The aim was to prevent congenital anomalies and raise awareness about their effects. Hospital based surveillance was implemented in India in collaboration with WHO. Institute of Maternal and Child Health (IMCH), Govt. Medical College Kozhikode was selected from the state of Kerala. Aim of this study includes, monitor and detect clusters (outbreaks) of congenital anomalies among a defined population and refer affected infants to appropriate services in a timely manner. Out of 15519 live births and 409 still births during the period of one year from November 2015 to 2016, there were 123 newborns with selected external congenital anomalies. </em><em></em></p></div>

Successful Pregnancy in a DWARF : A Rare Case Report

Miraculous birth: Standing at just 3’5"(104.14cm) tall, 28 years old proportionate dwarf lady weighing 20 kg was succeeded in giving birth to a girl at 36+ weeks of pregnancy by cesarean section in June, 2013 making her the smallest woman ever reported to give birth to apparently healthy looking, and average-sized female baby in Bangladesh. Detailed clinical examination of the neonate performed by the neonatologist revealed no obvious external congenital anomalies and infantogram after 6 weeks also revealed normal study.J. Paediatr. Surg. Bangladesh 4(2): 72-75, 2013 (July)

Partial Hydatidiform Mole with a Live Fetus— A Rare Entity

ABSTRACT Partial hydatidiform mole (PHM) with a singleton live fetus is a rare condition. A live baby of 2000 grams with many external congenital anomalies like hydrocephalus, bilateral congenital talipus equino varus (CTEV), meningomyelocele and spina bifida was delivered. Placenta weighed 700 grams and PHM was confirmed by histopathological examination. Baby expired one hour after birth. Baby was sent for autopsy which documented various anomalies. Partial hydatidiform mole is a histopathological entity characterized by focal trophoblastic hyperplasia with villous hydrops together with identifiable fetal tissue. PHM with a single live fetus is a rare condition which is reported by very few authors. Not all the cases of partial mole can be detected by USG/Doppler. If any anomalies are detected, PHM should be thought among the conditions possible. MShCG and karyotyping can be done to rule out this condition. Placenta has to be sent for histopathological examination to confirm the diagnosis of PHM. These patients are prone to go in preterm labor and preterm premature rupture of membranes (PPROM). There is possibility of malpresentations like transverse lie among these cases.

Epidemiology of external birth defects in neonates in South western Nigeria

There is paucity of information on the prevalence of birth defects in Nigeria, particularly in our setting. This study determined the epidemiology of external congenital anomalies in Southwest Nigerian children. This was a stratified, randomized study of neonates presenting with external birth defects in Ife-Ijesha in Southwestern Nigeria, from August 2003 to July 2004. The neonates were screened for obvious congenital malformations by thorough physical examination. A total of 624 neonates were screened, 43 (6.9%) of whom had external birth defects (prevalence: 3.7 +/- 0.8% SD). There was a slight male preponderance (M: F= 1.4: 0.9). The overall prevalence rates of external congenital and major anomalies in Ife-Ijesa are 6.9 and 3.7% respectively. A higher prevalence for major malformations, 6.3%, was also found within the minority ethnic groups in these communities compared to the native majority. Musculoskeletal abnormalities are the most common anomaly, followed by those of abnormal external genitalia and head defects. Major malformations are more common amongst the minority settlers in this study, and musculoskeletal abnormalities were the most prevalent.

Influence of a P53 Mutation on the Radiation Sensitivity of Mouse Zygotes

The aim of studies under way in our laboratory is to investigate whether heterozygous mutations in genes involved in such important cellular processes as cell cycle regulation, apoptosis and DNA repair may influence the radiation sensitivity of early mammalian embryos. The embryonic stage chosen for our first investigations is the zygote (first day of gestation). This stage occurs while women cannot be aware of pregnancy. Moreover, in contradiction with a long standing dogma of teratology, various kinds of malformations were previously found in mouse fetuses from particular (wild-type) strains after X-irradiation at the zygote stage. Our studies mainly concentrate on external congenital anomalies, cytokine secretion in the amniotic fluid and chromosomal instability. Measuring cytokines in the amniotic will enable us to determine whether developmental abnormalities are accompanied by changes in the levels of particular cytokines, as suggested by the few available data. On the other hand, chromosome instability has been recently reported in mouse fetuses from different strains, after x-irradiation at the zygote stage. The gene currently under study is P53, the genome guardian. The P53 mutation was introduced in the CF1 strain, whose wild-type zygotes had been previously shown by us to be sensitive to radiation induction of congenital anomalies (Jacquet et al., Mutation Res., 332, 73-87, 1995). P53 (+/+ x -/-) or P53 (+/+ x +/-) matings were performed from 7.30 till 9.30 am and the females showing a vaginal plug were x-irradiated with either 0.2 or 0.4 Gy 2 h after presumed fertilization. A number of them were sacrificed on day 8 of gestation, their gastrula stage embryos were collected and their embryonic parts were cultured for 7 h in the presence of colchicine. The cells were then fixed and cytogenetically analyzed. Other females were sacrificed on day 19 of gestation. Pre- and post-implantation losses were recorded, amniotic fluid surrounding the fetuses was collected for cytokine analysis and the living fetuses were weighed and examined under the stereomicroscope for the presence of congenital anomalies. When needed (+/+ x +/- matings), the tails of the fetuses were collected for genotype analysis. So far, and although our results have still to be completed, the P53 mutation did not seem to result into the development of a chromosomal instability and/or to higher levels of congenital anomalies in irradiated embryos. (Partially funded by the research contract n° CO-90 06 2024.00 between SCK•CEN and the Federal Agency for Nuclear Control).

Abnormal findings associated with undescended testis in Nigerian children.

Children between the ages of 6 years and 12 years numbering 2200, were examined for general physical development and external abnormality to correlate these anomalies with frequency of undescended testis. Whereas the overall frequency of undescended testis in this population was 0.5%, this condition was present in 1% of boys with peri-umbilical hernia. Undescended testis should be looked for in children with external congenital anomalies, particularly of the anterior abdominal wall.

Potential teratogenicity of gonadotropin treatment for ovulation induction in the mouse offspring.

The teratogenic effects of induced ovulation were studied in mice by using three different doses of pregnant mare's serum (PMS)/human chorionic gonadotropin (HCG) (2.5, 5, or 10 IU) at two different stages of the estrous cycle. The PMS/HCG treatment induced high incidences of external congenital anomalies in the offspring in a dose-dependent manner. This was especially so when the treatment was "out of phase" to the naturally occurring ovulation schedule. The predominant malformations were open eyelids and cleft palate. The problems of extrapolating these findings to humans are discussed.

The prevalence of neural tube defects in live born neonates in Kano, North-Western Nigeria

Background: Neural tube defects (NTDs) are congenital malformations of the cranium, spine, and nervous system. About 350,000 infants are born with NTDs yearly worldwide. This study aimed to determine the prevalence and spectrum of NTDs in live-born neonates in the Kano Metropolis of North-western Nigeria. Materials and Methods: This is a prospective study of all live-born neonates in three selected hospitals in the Kano metropolis between April 2013 and December 2013. A descriptive study design was employed. Neonates delivered at gestational ages 28 weeks or more were examined within 48 h of birth for external congenital anomalies. Detailed family history and clinical data were recorded for each child. Data were analyzed using SPSS version 15.0 for Windows (SPSS Inc., Chicago, IL, USA). Results: Of the 1456 neonates recruited into the study, there were 757 (52%) boys and 699 (48%) girls. Of these, 4 neonates (2 boys and 2 girls) had NTDs (male:female ratio = 1:1), giving a birth prevalence of NTDs (2 spina bifida cystic, 1 anencephaly, and 1 encephalocele) of 2.75/1000 live births. The mean gestational age for the neonates with NTDs was 38 weeks (standard deviation [SD] 2.16 weeks) while their mean birth weight was 2.93 kg (SD 0.51 kg). Only 5.03% of the mothers in this study began the use of folic acid-containing multivitamin supplement at least 1-month before or in the 1 st month of the index pregnancy. Conclusion: Given the high prevalence of NTDs in this study, public health measures aimed at the prevention of this anomaly should be encouraged.