Pattern Of Congenital Anomalies Research Articles

Spectrum of congenital malformations at birth among neonates in a private medical college in South Rajasthan

Background: Congenital anomalies contribute to about 12% neonatal deaths annually .Neonates with multiple congenital malformations pose a very difficult management problem for the treating physician. This study was done to know the incidence, pattern of congenital anomalies and to study various maternal risk factors leading to congenital anomalies which may help us in devising strategies for better patient counseling and management.Methods: Prospective cross sectional study carried out from 1st Jan 2014 to 31st December 2018 in a private medical college in India. Neonates (both live and still born) delivered in our hospital during this period formed the part of study group. All congenital anomalies present were documented and classified according to system involoved.Results: Total number of neonates with congenital anomalies were 90, out of which 73 were live births and 17 were still births. The overall incidence of congenital anomalies was 2.375%. The commonest system affected was musculoskeletal system (27.7%) followed by CNS (24.4%). Among the maternal risk factors studied, increased maternal age, consanguineous marriage, maternal gestational diabetes mellitus were all significant risk factors associated with congenital anomalies.Conclusion: Congenital anomalies are a global health problem. In our study we have documented that multiparity, consanguinity, diabetes mellitus, Pregnancy induced Hypertension (PIH), maternal anemia, maternal malnutrition to be major contributing factors for congenital anomalies. Present study highlighted that musculoskeletal and CNS systems to be the most commonly affected by congenital malformations. Antenatal scans remain an important diagnostic tool in screening for congenital anomalies. A good clinical examination at birth could help in early detection of life threatening congenital malformation thereby improving chances of his or her survival.

Prevalence and Pattern of Congenital Anomalies in a Tertiary Hospital in Central Vietnam

Burden and pattern of congenital anomalies are insufficiently reported in Vietnam. This study aims to determine the prevalence and pattern of congenital anomalies in neonates in a tertiary hospital in central Vietnam. A prospective cross-sectional study recruited all newborns with congenital anomalies in Da Nang Hospital for Women and Children-where nearly 60% neonates in the city are delivered. Over a 1-year period, 551 out of 14335 registered live births were found to have congenital anomalies, equivalent to an overall prevalence of 384.4 per 10000 live births. Congenital heart defects were the most common type (52.3%) with the prevalence of 200.9 per 10000 live births, followed by anomalies of musculoskeletal system, digestive system. This study revealed a high prevalence of congenital anomalies with the most common type being congenital heart defects in central Vietnam compared to both higher income countries and resource-limited settings.

Pattern of congenital anomalies in neonates at tertiary care centre in Hyderabad, India: a hospital based prospective observational study

Background: With advancements of perinatal, neonatal care congenital defects were the most common cause of morbidity and mortality in developed world. It is one of the common causes of morbidity and mortality in India. Its incidence also influenced by many preventable risk factors. Hence, we are carried out this study to know the changing pattern of congenital anomalies and to know the effect of environmental risk factors on congenital anomalies.Methods: Prospective observational study conducted at Niloufer hospital Hyderabad during period from November 2017 to 2018. We included intramural and extramural babies. Analysed data by appropriate statistical methods.Results: Most common system involved was Central nervous system (CNS) with 25 cases out of 112 cases followed by Gastrointestinal system (GIT)and Cardiovascular system (CVS). Meningomyelocele, anorectal malformations and acyanotic heart diseases were most common type of congenital anomalies. Thirty seven to forty weeks gestational age group babies were most commonly have congenital anomalies than other gestational age group babies. Low birth weight babies had higher percentage of congenital anomalies (2.64%). Congenital anomalies were more in the male sex (2.53%) as compared to female babies (1.73%). Maternal obesity, consanguineous marriage and previous family history of congenital anomalies associated with increased risk of congenital anomalies with significant p values.Conclusions: Incidence of congenital anomalies was 2.15%. Most of congenital anomalies were involved in CNS. Birth weight, Gestational age, Male sex, consanguineous marriage, maternal Obesity and previous family history of congenital anomalies were significantly associated with increased risk of congenital anomalies.

Pattern of congenital anomalies at birth and their correlations with maternal characteristics in the maternity teaching hospital, Erbil city, Iraq

BackgroundCongenital anomalies are a worldwide problem, causing perinatal and infant deaths and postnatal physical disabilities. This study aimed to determine the pattern and associated factors of the congenital anomalies in newborns delivered at the Maternity Teaching Hospital, Erbil city.MethodsAll the births occurring in the labor room of the Maternity Teaching Hospital in Erbil city, Kurdistan region, Iraq between 1st April 2015 and the end of March 2016 were recorded. All babies with congenital anomalies were identified. The rate and common types of congenital anomalies were estimated. A case-control study was conducted involving all women who had babies with congenital anomalies and the same number whose babies had no congenital anomalies. Data were collected using a structured questionnaire.ResultsOf the 35,803 recorded births in the Maternity Teaching Hospital, Erbil, 130 women delivered babies with at least one congenital anomaly, giving a rate of 3.63/1000 deliveries. The most common area for anomalies was the central nervous system (37.7%) followed by the musculoskeletal (23.1%) and gastrointestinal systems (20.8%). There was a statistically significant association between having a child with congenital anomalies and a maternal history of previous congenital anomalies (odds ratio [OR] 59.0, 95% CI 5.74–607.0), parental consanguinity (OR 6.26, 95% CI 2.42–16.19), and history of medical disorders (OR 153.2, 95% CI 25.9–905.4). Maternal occupation and smoking did not have any influence to develop congenital anomalies (OR 0.69, 95% CI 0.12–3.97 and OR 1.22,95% CI 0.19–7.93).ConclusionAnomalies were most likely to be in the central nervous system. Maternal history of previous congenital anomalies, parental consanguinity, and history of medical disorders were the most important factors associated with congenital anomalies. This study provides baseline information for future prevention and better management of patients likely to have babies with congenital anomalies. More research is required to identify the factors responsible for the different types of congenital anomalies.

Pattern of Congenital Anomalies at Birth: A Hospital-based Study

Pattern of Congenital Anomalies at Birth: A Hospital-based Study

Prevalence and pattern of congenital anomalies at tertiary health care hospital

Prevalence and pattern of congenital anomalies at tertiary health care hospital

Exploration of spatial patterns of congenital anomalies in Los Angeles County using the vital statistics birth master file.

Research has shown linkages between environmental exposures and population health metrics such as low birth weight and incidence of congenital anomalies. While the exact causal relationship between specific environmental teratogens and suspected corresponding congenital anomalies has largely not been established, spatial analysis of anomaly incidence can identify potential locations of increased risk. This study uses the Vital Statistics Birth Master File to map and analyze the rates of congenital anomalies of births from non-smoking mothers 15-35years old within Los Angeles County. Hot spot analysis shows that the distribution of congenital anomalies is not randomly distributed throughout the county and identified the Antelope Valley and San Gabriel Foothills as two areas with elevated incidence rates. These results are not explained by potential confounders such as maternal age, race, smoking status, or socioeconomic status and seem to correlate well with the concentration of atmospheric ozone. This approach demonstrates the value of using spatial techniques to inform future research efforts and the need to establish and maintain a comprehensive reproductive health surveillance system.

Spectrum of congenital anomalies of neonates in a tertiary care hospital in Southern India

Background: Congenital anomalies contribute upto 11% of neonatal deaths globally. Neonates with multiple congenital malformations present a very difficult challenge to the treating physicians. This study was done to know the frequency, pattern of congenital anomalies and various presentations, which may help to develop strategies for patient counseling and management in our setting.Methods: Retrospective hospital based observational study from the period of June 2015 to June 2017. Neonates born in our hospital during the study period with documented congenital anomalies were included in the study and the data was classified as per European Surveillance of Congenital Anomalies and further analysed.Results: Total number of neonates with documented congenital anomalies was 40, of which 6 neonates (15%) had multiple anomalies. The anomalies in the study were divided into major and minor anomaly groups. 70% of the anomalies were classified as major anomalies while 30% were classified as minor anomalies. Multiparity and GDM were found to be major risk factors in the mother. Major anomalies identified involved the Musculoskeletal system (21.6%) and cardiovascular system (20%). Minor anomalies included skin disorders (27.7%) followed by Musculoskeletal (16.6%) and genitourinary system (16.6%). Of the 40 anomalous babies five babies expired soon after birthConclusions: Antenatal screening is an effective tool to detect Musculoskeletal and CNS anomalies. CVS anomalies may be missed by routine anomaly scan. Early intervention and effective follow up have shown that good outcomes are possible even in while managing some of the major anomalies.

Seasonality of birth defects in West Africa: could congenital Zika syndrome be to blame?

The link between Zika virus infection during pregnancy and microcephaly and other neurodevelopmental defects in infants, referred to as congenital Zika syndrome (CZS), was recently discovered. One key question that remains is whether such neurodevelopmental abnormalities are limited to the recently evolved Asiatic ZIKV strains or if they can also be induced by endemic African strains. Thus, we examined birth registries from one particular hospital from a country in West Africa, where ZIKV is endemic. Results showed a seasonal pattern of birth defects that is consistent with potential CZS, which correspond to a range of presumed maternal infection that encompasses both the peak of the warm, rainy season as well as the months immediately following it, when mosquito activity is likely high. While we refrain from definitively linking ZIKV infection and birth defects in West Africa at this time, in part due to scant data available from the region, we hope that this report will initiate broader surveillance efforts that may help shed light onto mechanisms underlying CZS.

Pattern of Congenital Anomalies: A Hospital Based Fetal Autopsy Study

Pattern of Congenital Anomalies: A Hospital Based Fetal Autopsy Study

Prevalence and Pattern of Congenital Anomalies and Its Outcome at Chattagram Maa-O-Shishu General Hospital

Background: Congenital anomalies are a major cause of perinatal and neonatal deaths, both in low and high-income countries.The aim of the study is to find out the overall incidence of clinically detectable Congenital anomalies in newborns in Chattagram Maa-O-Shishu General Hospital (CMOSH).Methods: A retrospective study was carried out from July 2010 to June 2011 to find out the incidence of congenital anomalies & its outcome at Chattagram Maa-O- Shishu General Hospital.Results: The total number of admission during this period was 2395 and total number of death was 141, out of which Congenital anomalies were 105. Among the Congenital anomalies, congenital heart disease was 62, Club foot was 9, Down syndrome was 8, Hydrocephalus was 5, Cleft lip & cleft palate was 5, Umbilical hernia was 4, Duodenal atresia was 3, Tongue tie was 3, Pierre robin syndrome was 3, Hisprung disease was 2 and Mermaid syndrome was 1.Conclusion: Heart defects were the most prevalent anomaly detected. Early prenatal diagnosis is therefore very helpful in decreasing perinatal mortality by allowing for the option of early termination of pregnancy.Chatt Maa Shi Hosp Med Coll J; Vol.16 (1); Jan 2017; Page 22-25

Pattern of congenital abnormalities in a tertiary hospital and its impact on neonatal mortality

Background: Congenital abnormalities are major contributors of neonatal mortality and stillbirths. However, there is not sufficient data in our country on the prevalence of various congenital malformations and their impact on neonatal mortality. Objectives: To study the prevalence and pattern of congenital anomalies among neonates delivered in a tertiary hospital setting in 3 years and its impact on perinatal and neonatal mortality. Materials and Methods: This hospital based prospective descriptive study was undertaken at tertiary care hospital in Kerala. All babies born in the hospital from January 2013 to December 2015 (3 years) were included in the study. The baby was examined by a pediatrician during the first 24 h to identify any birth defects. A detailed history including familial and gestational factors was taken in babies with birth defects. Photographs, radiographs, ultrasound examination, echocardiography, and chromosomal studies were undertaken as required. The details were entered in a pro forma. The anomalies are classified as per ICD-10 criteria. Results were analyzed by simple statistical techniques recording number and percentage of cases. Results: The prevalence of birth defects in live born newborn was 1.9% whereas, in stillbirths, it was 15.3%. Congenital anomalies also contributed a major risk factor for neonatal death as 22% of the newborns, died in the immediate neonatal period, had some form of congenital anomaly. The major maternal risk factor found to be associated with congenital anomalies was gestational diabetes (21.3%). The patterns of congenital anomalies were musculoskeletal anomalies (25%), central nervous system (18%), genitourinary system (14%), congenital diaphragmatic hernia (12%), cardiovascular system (10%), gastrointestinal (7%), syndromes (6%), non-immune hydrops (5%), and others (3%). Conclusion: Prevalence of birth defects in this birth cohort was 1.9% comparable to other Indian data. In Kerala, one of the major causes of perinatal and neonatal mortality is congenital malformations.

Pattern of Congenital Anomalies in Newborn: A 4-Year Surveillance of Newborns Delivered in a Tertiary Healthcare Facility in the South-East Nigeria.

Congenital abnormalities are important causes of morbidity and mortality in children and significantly add to the burdens on healthcare in developing countries. Unfortunately, there remains a paucity of information on congenital birth defects in most developing countries. This is a 4-year prospective study that assessed the patterns and predictors of congenital anomalies among newborns at the Enugu State University Teaching Hospital, Nigeria. In total, 5830 deliveries were recorded, of which 38 had congenital anomalies, giving an incidence rate of 6.5/1000 live births. Fifty-two newborns were enrolled as nested controls. Factors significantly associated with congenital anomalies were low birth weight (p = 0.009), low socio-economic class (p = 0.011), lower maternal educational attainment (p = 0.009), parity of ≥ 5 (p = 0.002), febrile illness (p = 0.001) and the use of local concoction in index pregnancy (p = 0.009). More than half of the anomalies reported involved the musculoskeletal system. Occurrence of congenital anomalies may be prevented by curtailing risk factors identified in this study.

Etiology and clinical presentation of birth defects: population based study

Objective To assess causation and clinical presentation of major birth defects.Design Population based case cohort.Setting Cases of birth defects in children born 2005-09 to resident women, ascertained through Utah’s population...

Prevalence and pattern of birth defects in a tertiary health facility in the Niger Delta area of Nigeria.

ObjectiveTo ascertain the prevalence and pattern of congenital abnormalities that are peculiar to the Niger Delta area of Nigeria.MethodsThis is a descriptive retrospective cross-sectional study. It involved data from the labor ward and neonatal birth registers of the University of Port Harcourt Teaching Hospital on the total number of births and the babies that were delivered with major birth defects between August 2011 and December 2014. We also conducted a statistical comparison of the prevalence of congenital abnormalities in the Niger Delta with that in other regions of Nigeria and the developed world of Europe.ResultsOut of the 7,670 deliveries that occurred, 159 maternities had babies with major birth defects giving a prevalence of 20.73 cases per 1,000 live births. This figure is far more than that which was obtained in other regions of Nigeria −4.15:cases per 1,000 live births in the South East (P<0.001), 15.84:1,000 in the South West (P<0.01), and 5.51:1,000 in the North East (P<0.001). Eighty-five (53.46%) of the defects occurred in 1,681 unbooked patients, while 74 (46.54%) happened in 5,989 booked maternities (P<0.001). The predominant abnormalities were those of the central nervous system at 27.0%, gastrointestinal system 11.95%, cardiovascular system 10.69%, anterior abdominal wall 8.18%, skeleton 6.29%, and chromosomal abnormalities at 5.66%.ConclusionThe prevalence of major birth defects at the University of Port Harcourt Teaching Hospital was 20.73 cases per 1,000 live births and it was more in the unbooked than the booked maternities. All body systems were affected with those of the central nervous system predominating at 27.0% of the total diagnosed defects.

Pattern of Congenital Anomalies in A Tertiary Care Centre

Pattern of Congenital Anomalies in A Tertiary Care Centre

Prevalence and associated factors of congenital anomalies in a tertiary care centre in Tamilnadu

Background: A birth defect or congenital anomaly is an abnormality of structure, function or body metabolism that is present at birth and results in physical or mental disability. Evaluation and management of newborns with one or more malformations present a significant challenge to the healthcare providers and families. Despite major advances in understanding the etiology and pathogenesis, malformations remain a leading cause of infant mortality. This study brings about the prevalence of congenital anomalies among antenatal patients delivering beyond the period of viability, 22 weeks in a tertiary care centre in Tamilnadu and also the pattern of anomalies, along with the associated factors. Materials and Methods: A cross sectional study with nested case control design was conducted in a tertiary care centre in Taminadu for one year from July 2015 to June 2016. Those fetuses induced in second trimester following detection by ultrasound and those babies detected to have congenital anomalies by postnatal examination were included in the study. Data of 191 cases and 191 controls were collected by interviewing the mothers and reviewing the existing patient records. Relevant antenatal, natal, postnatal and past illnesses were recorded in a proforma and analysed. Results: In the study period, 191 babies out of 9877 were anomalous with a prevalence of 1.93%. Anomalies of the central nervous system were the commonest (35.6%). The ultrasound detection rate was 67.01%. Maternal age >25 years was seen in 55%. About 15.7% of the mothers had consanguineous marriage. The distribution among primigravida and multipara are almost similar.16.2% of cases had a history of infertility in the mother. 8.4% of the cases had a family history. About 4.7% cases had a history of exposure to antiepileptic drugs. Maternal diabetes mellitus and epilepsy contributed 32.5% and 4.5% of cases respectively. Intrauterine growth restriction and amniotic fluid abnormalities were commonly associated. Conclusion: The study helps to know the pattern of congenital anomalies and the relationship of various gestational and familial factors and the importance of ultrasound in diagnosing anomalies. Surveillance of anomalies should be a must and all maternity hospitals should have their own anomaly register. Parents of any surviving anomalous child should receive emotional support and reassurance.

Congenital Multiple Metatarsal Synostoses with Proximal Phalangeal Deformities of the Foot.

Congenital foot abnormalities such as syndactyly, polydactyly, and brachymetatarsia are commonly seen by plastic surgeons. There have been reports of cases of congenital synostosis of the foot, with the majority of cases involving the rear foot and midfoot (Boccio et al. [1]). However, to the best of our knowledge, multiple metatarsal synostoses with proximal phalangeal deformities is extremely rare and independent from any syndromes and congenital anomaly patterns.

Update: Interim Guidance for the Evaluation and Management of Infants with Possible Congenital Zika Virus Infection - United States, August 2016.

CDC has updated its interim guidance for U.S. health care providers caring for infants born to mothers with possible Zika virus infection during pregnancy (1). Laboratory testing is recommended for 1) infants born to mothers with laboratory evidence of Zika virus infection during pregnancy and 2) infants who have abnormal clinical or neuroimaging findings suggestive of congenital Zika syndrome and a maternal epidemiologic link suggesting possible transmission, regardless of maternal Zika virus test results. Congenital Zika syndrome is a recently recognized pattern of congenital anomalies associated with Zika virus infection during pregnancy that includes microcephaly, intracranial calcifications or other brain anomalies, or eye anomalies, among others (2). Recommended infant laboratory evaluation includes both molecular (real-time reverse transcription-polymerase chain reaction [rRT-PCR]) and serologic (immunoglobulin M [IgM]) testing. Initial samples should be collected directly from the infant in the first 2 days of life, if possible; testing of cord blood is not recommended. A positive infant serum or urine rRT-PCR test result confirms congenital Zika virus infection. Positive Zika virus IgM testing, with a negative rRT-PCR result, indicates probable congenital Zika virus infection. In addition to infant Zika virus testing, initial evaluation of all infants born to mothers with laboratory evidence of Zika virus infection during pregnancy should include a comprehensive physical examination, including a neurologic examination, postnatal head ultrasound, and standard newborn hearing screen. Infants with laboratory evidence of congenital Zika virus infection should have a comprehensive ophthalmologic exam and hearing assessment by auditory brainstem response (ABR) testing before 1 month of age. Recommendations for follow-up of infants with laboratory evidence of congenital Zika virus infection depend on whether abnormalities consistent with congenital Zika syndrome are present. Infants with abnormalities consistent with congenital Zika syndrome should have a coordinated evaluation by multiple specialists within the first month of life; additional evaluations will be needed within the first year of life, including assessments of vision, hearing, feeding, growth, and neurodevelopmental and endocrine function. Families and caregivers will also need ongoing psychosocial support and assistance with coordination of care. Infants with laboratory evidence of congenital Zika virus infection without apparent abnormalities should have ongoing developmental monitoring and screening by the primary care provider; repeat hearing testing is recommended. This guidance will be updated when additional information becomes available.

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Nonsense-mediated decay (NMD) is an important process that is best known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potentially harmful consequences, although its regulatory role encompasses other classes of transcripts as well. Despite the critical role of NMD at the cellular level, our knowledge about the consequences of deficiency of its components at the organismal level is largely limited to model organisms. In this study, we report two consanguineous families in which a similar pattern of congenital anomalies was found to be most likely caused by homozygous loss-of-function mutations in SMG9, encoding an essential component of the SURF complex that generates phospho-UPF1, the single most important step in NMD. By knocking out Smg9 in mice via CRISPR/Cas9, we were able to recapitulate the major features of the SMG9-related multiple congenital anomaly syndrome we observed in humans. Surprisingly, human cells devoid of SMG9 do not appear to have reduction of PTC-containing transcripts but do display global transcriptional dysregulation. We conclude that SMG9 is required for normal human and murine development, most likely through a transcriptional regulatory role, the precise nature of which remains to be determined.