Pattern Of Congenital Anomalies Research Articles

Introducing second-trimester anatomic scanning for improved detection and management of congenital anomalies: Experience from a novice center in East Africa.

The aim of the current study was to describe the magnitude and pattern of congenital anomalies on routine second-trimester ultrasound and its practical implication in the management of pregnant women with fetal anomalies at a novice center in East Africa. This cross-sectional study was conducted from September 2021 to May 2022 among women who had second-trimester anatomic scanning. Data were collected using a structured questionnaire and analyzed using SPSS version 23.1. Ethical clearance was obtained from the hospital's institutional review board and informed consent was obtained. The number of congenital anomalies was 45 of 1764 (2.55%). Most (41%) were in the age group 26-30 years and multigravida (62%). Average gestational age at anatomic scanning was 24 weeks. One or more risk factors for congenital anomalies were reported in 19 (31.0%) of the mothers. Most sonographic fetal abnormalities (51.7%) were reported in the central nervous system, followed by renal (18.0%) and skeletal (11.5%). Among the central nervous system anomalies, severe ventriculomegaly was the most common (38.7%), followed by Arnold-Chiari malformation (19.4%). Thirty-five (2%) of the mothers had a lethal fetal congenital anomaly and their pregnancy was terminated after counseling and informed consent. The rate of congenital anomalies in this study is comparable with most international data. The introduction of second-trimester anatomic scanning has led to timely termination of anomalous pregnancies, which contributes to reduction in direct and indirect costs of care and family's psychosocial distress and the stigma associated with the birth of and caring for a child with disability.

Safety of Monoclonal Antibodies Inhibiting PCSK9 in Pregnancy: Disproportionality Analysis in VigiBase®.

Safety data on the use of monoclonal antibodies inhibiting proprotein convertase subtilisin/kexin type 9 in pregnancy are scarce. This study queried VigiBase®, the World Health Organization global pharmacovigilance database, to search for signals of disproportionate reporting for pregnancy outcomes with alirocumab and evolocumab. As of November 22, 2023, there were 45 safety reports of exposure to evolocumab (N = 31) and alirocumab (N = 14) in pregnancy. Most of them originated from Europe (N = 25, 55.6%) and were more frequently reported by healthcare professionals (N = 35, 77.8%). Median patient age was 37 years (25th-75th percentiles; 32-41 years). Drug exposure occurred during pregnancy in 36 (80.0%) safety reports, via paternal exposure during pregnancy in four (8.9%), during lactation in three (6.7%), and in two safety reports the time of drug exposure remained unknown. Twenty safety reports (57.8%) merely reported drug exposure, while 19 (42.2%) also reported pregnancy outcomes, however, without specific maternal toxicities or patterns of birth defects. Spontaneous abortion was reported in eight safety reports without representing a signal of disproportionate reporting compared with either the full database (reporting odds ratio, ROR, 0.06 95% confidence interval, CI 0.03-0.12) or statins (ROR 0.16, 95% CI 0.08-0.32). In conclusion, this study showed that, currently, there are no signals of increased reporting of spontaneous abortion with alirocumab and evolocumab compared with the full database and statins in VigiBase®. Notwithstanding, lack of disproportionality is not synonymous with safety and, as disproportionality analyses depend on the number of safety reports that progressively accumulate in VigiBase®, they should be repeated at regular intervals to confirm the results of the present study.

IJCM_359A: Pattern of Congenital Anomalies among newborn babies - A Hospital based study

Background: Congenital anomalies can be defined as structural or functional anomalies that occur during intrauterine life and can be identified prenatally. Some of the congenital anomalies may be life threatening, hence an immediate management is required. This study is to determine the pattern of congenital anomalies among newborn babies and factors associated with it. Methodology: It was a descriptive study carried out at KMC Hospital, Attavar on all the new born babies with congenital abnormalities born or admitted in KMC Attavar. Data extraction sheet had two sections including the maternal details, history of newborn related to type of congenital anomalies and condition of the baby at birth. Data was entered and analyzed by using statistical software Statistical Package for Social Sciences (SPSS) Version 11.5. Descriptive statistics like mean, proportions and standard deviation was used for expressing the results. Results: We found that 56.25% of the cases were of maternal age group <30years. 3.16% were non-consanguinous marriages, 56.46% of mothers were primiparous & 43.53% were multiparous. Only 18.40% had maternal co morbidities & 5.84% had hazardous exposure. 67% of the study population were males and 33% were females. In cases where single system was involved, 66.85% were males and 33.15% were females. In cases with multiple malformations, 67.56% were males and 32.43% were females. In the cases where maternal age was <30yrs, 22.85% of anomalies were in the cardiovascular system, and in ≥30yr, 29.63% were multiple malformations. Conclusion: Among the congenital anomalies affecting the newborns, the most affected single system is gastrointestinal tract followed by cardiovascular system and musculoskeletal system. Multiple malformations were found to be the highest. Congenital anomalies were found to be more in males than females. In maternal age group of less than 30yrs, highest number of anomalies were in the cardiovascular system and for more than/equal 30yrs, highest number was multiple malformations.

Relation of Raised HbA1C Level with Congenital Deformity of Fetus Detected by Anomaly Scan in 2nd Trimester of Pregnancy in Diabetic Mother

Background: Pregnant women with pre-existing diabetes face an elevated risk of congenital anomalies in their offspring. However, research on the pattern of congenital anomalies and its correlation with blood sugar control in pre-gestational diabetic mothers is limited, especially in our country's context. This study investigated the association between elevated HbA1c levels and congenital anomalies in diabetes-related pregnancies. Objective: To assess whether raised HbA1c levels were linked to an increased incidence of congenitally deformed fetal outcomes in pregnancies affected by diabetes. Method: This cross-sectional study was conducted from August 2018 to September 2019 at the Department of Obstetrics and Gynaecology, DMCH. Women with pre-gestational diabetes were sequentially enrolled if they provided informed consent. Data, including HbA1c levels and anomaly scans, were collected at 18-24 weeks of gestation. Participants were divided into two groups based on HbA1c levels: Group-1 (elevated HbA1c) and Group-2 (normal HbA1c). Statistical analysis was performed using SPSS 22, with significance at p<0.05. Result: The mean ages of Group 1 and Group 2 were 31.60±2.89 & 30.51±2.99 (SD) years. Both groups were similar concerning age, residence, education, occupation, economic status, and BMI (p>0.05 in all factors). Mean HbA1C (%) of Group-1 and Group-2 were 8.57±2.22 & 6.18±0.20 (p<0.001), respectively. Congenital anomalies were more frequent in Group 1 (15.6 vs 2.2; p<0.05), and it is associated with high blood sugar levels (p<0.001) and with a previous history of anomalous babies in preceding pregnancies. Conclusion: Elevated HbA1c levels are associated with an increased incidence of congenital anomalies in pregnancies complicated by diabetes. This underscores the importance of strict glycemic control in pregnant women with pre-gestational diabetes to mitigate the risk of adverse fetal outcomes. Further, population-based studies are desired to validate these findings and inform clinical management strategies.

Fetal Warfarin Syndrome - A Case Report

Fetal warfarin syndrome (FWS) or warfarin embryopathy also known as “Di Sala syndrome” is a rare fetal anomaly which occurs as a result of fetal exposure to warfarin during the early stages of pregnancy. FWS is characterised by nasal hypoplasia and skeletal abnormalities, including short limbs and digits and stippled epiphyses. Here we present a case of foetal embryopathy due to warfarin use in a female with an unplanned pregnancy while taking warfarin for cerebral venous thrombosis. The case was reported in Adverse Drug Reaction (ADR) Monitoring centre in August 2023. The purpose of this case report is to caution all the clinicians particularly obstetricians regarding the fetal abnormalities of warfarin. If the mother had history of warfarin usage, paediatricians should also be vigilant regarding the possibility of congenital warfarin syndrome in the newborn.
 Warfarin is an oral anticoagulant drug that decreases the production of clotting factors (II, VII, IX, X) which are vitamin K-dependent. Warfarin is used in the treatment of patients with thromboembolic disorders and in patients who are predisposed to the development of thrombus. Especially those people with prosthetic heart valves, those who have had ischemic stroke and atrial fibrillation. Warfarin is a teratogen which can cross the placental barrier and cause harm to the developing foetus.[1] Warfarin causes inhibition of clotting factors leading to internal bleeding of the fetus, while inhibition of osteocalcin retards bone growth. In addition to birth defects, warfarin can induce spontaneous abortion, premature delivery, neonatal death and even congenital anomalies known as fetal warfarin syndrome.[2] The risk of teratogenicity is not predictable with any dose of warfarin. The first case of embryopathy due to warfarin was reported by Di Sala in 1966 hence, it is also known as Di Sala syndrome.[3,4] Warfarin leads to embryopathy which is characterized by the abnormalities of cartilages and bones known as chondrodysplasia punctata.[5] Almost 6% of babies born to mothers treated with warfarin during the first trimester have a pattern of congenital anomalies like nasal hypoplasia and stippling of vertebrae or bony epiphyses.[6] So, warfarin is contraindicated during pregnancy.
 Here we present a case of foetal embryopathy due to warfarin use in a female with an unplanned pregnancy while taking warfarin for cerebral venous thrombosis. This form of stroke is relatively rare and underdiagnosed which accounts for 0.5%-1% of all strokes mostly occurring in young adults, especially in women. Pregnancy, use of oral contraceptive pills (OCPs), puerperium, malignancies and other conditions with hypercoagulable states have been recognised as predisposing risk factors.[7] The conventional therapy for venous thromboembolism includes treatment with parenteral low-molecular-weight heparin (LMWH) and the vitamin K antagonist warfarin.[7]

The Prevalence and Pattern of Congenital Anomalies Among Neonates Admitted in a Tertiary Care Hospital in the Andaman and Nicobar Islands: A Retrospective Study.

Introduction Congenital anomalies (CAs) constitute a significant determinant of neonatal mortality in India, and past studies have elucidated their diverse clinical presentations across different geographic regions. Given the limited availability of region-specific data in our locale, this study was initiated to elucidate the prevalence and phenotypic manifestations of congenital anomalies in live births within the distinctive setting of the Andaman and Nicobar Islands, India. Methods This retrospective observational study was conducted at the Department of Pediatrics of the Andaman and Nicobar Islands Institute of Medical Sciences (ANIIMS), located in Port Blair, during a defined one-year period extending from June 2022 to May 2023. All live births presenting with congenital anomalies within this stipulated timeframe were systematically enrolled in the study, and data was meticulously extracted from their respective medical records. The study data was methodically collated and organized utilizing the EpiData software (EpiData Association, Odense, Denmark), followed by a comprehensive descriptive analysis executed through the application of the PSPP software (GNU Project, Boston, MA). Results Among the 1661 neonates admitted during the study's defined period, a total of 61 neonates (3.7%) were identified as having congenital anomalies. Among these anomalies, cardiovascular anomalies were found to be the most prevalent, succeeded by gastrointestinal and central nervous systemanomalies. Notably, major congenital anomalies were discerned in 20 out of 61 neonates, constituting approximately 33% of the neonatal population with anomalies. Neonates afflicted with congenital anomalies displayed a mortality rate of 11.5%. Conclusion The effects of congenital anomalies on individuals, families, and the society are far-reaching. Early identification and timely referraland intervention are the key factors in decreasing the mortality and morbidity associated with congenital anomalies.

Prevalence and Pattern of Birth Defects in Saudi Arabia: A Systematic Review of Observational Studies.

Birth defects are a significant concern since they can lead to permanent disability and death. This study comprehensively reviews the prevalence and patterns of birth defects in Saudi Arabia. A systematic analysis of the literature retrieved from three databases (Pub Med, Science Direct, and the Saudi digital library) published between 1989 and 2022 was performed. Observational studies that addressed the prevalence and patterns of birth defects in Saudi Arabia were chosen based on the eligibility criteria, while systematic reviews, review articles, non-relevant articles, and studies that did not fulfill the eligibility criteria were excluded. Quality and risk of bias were evaluated based on the JBI and GRADE tools, respectively. We identified 26 eligible publications of 1277 records that included 297,668 patients from different regions of Saudi Arabia. The highest overall prevalence of birth defects was 46.5 per 1000 live births compared to a lowest rate of 8.6 per 1000 in one study. Several studies have reported positive associations of consanguinity, maternal folic acid supplementation, family history of birth defects or genetic abnormalities, and maternal co-morbidities. The most frequent birth defects include cardiac, genitourinary, craniofacial, and nervous system defects. Robust findings have improved our understanding of the prevalence and pattern of birth defects in Saudi Arabia. Importantly, future studies will likely require multicenter collaboration to arrive at appropriate sample sizes in the context of the effects of risk factors on elevated prevalence. Furthermore, quantitative data require careful evaluation in more complex statistical models.

Spectrum of Congenital Malformations in Neonates at a Rural Teaching Hospital — A Cross Sectional Observational Study

Introduction: The global estimates of congenital anomalies in neonates are 6% and few of them are severe enough to cause death. According to World Health Organization (WHO), congenital anomalies attribute to 17-42% of the infant mortality. Apart from causing death, they also contribute to preterm births, childhood and adult mortality, with significant repercussions in families. With the advancement of technology, there has been a decrease in the number of deaths due to other causes and there has been an increasing concern about congenital anomalies. This calls for an inquiry into the recent burden of congenital anomalies and their associated risk factors. Hence, the study was carried out. Objectives: 1. To assess the frequency and pattern of congenital anomalies. 2. To determine the factors associated with congenital anomalies. Materials & methods: This is an observational study which included all live born neonates with congenital anomaly/ies admitted to R L Jalappa Hospital (RLJH) and still born neonates or aborti with congenital anomaly/ies delivered in RLJH during the study period. A detailed history of the study participants was taken, and all the anomalies were coded as per the ICD coding system. For still born babies, aborti and neonatal deaths, infantogram, gross autopsy and histopathological examination findings were noted. Statistical analysis: Data was analysed using “Microsoft excel sheet” and the analysis was done using Statistical Package for Social Sciences (SPSS-16) software. Significance was defined as p<0.05. Results: Our hospital had 2,400 deliveries during the study period, out of which the frequency of congenital anomalies was 1.3%. As per the associated risk factors, 66.6% of the babies had no associated risk factors while the remaining 33.4% of the babies had an associated risk factor. Most commonly seen risk factor in the study was 3rd degree consanguinity (11.1%). As per the system involved, Musculoskeletal system involvement was seen in the majority (63.9%) of the neonates, followed by Cardiovascular system in 11.1%, Central Nervous System (CNS) in 8.3%, Genital system in 8.3%, Lymphatic system in 5.6%, Gastrointestinal system in 2.8%, Cutaneous in 2.8%, Oral cavity in 2.8% and syndromic anomaly in 2.8%. Conclusion: The prevalence of congenital anomalies is considerably high and increasing the awareness to prevent them is the need of the hour. Appropriate consideration should be given to reducing the risk factors and genetic counseling should be provided to parents with high risk. Keywords: Congenital malformations, Neonates, Congenital anomalies

Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao.

Congenital anomalies represent an important global health issue. Data on the prevalence and pattern of congenital anomalies in the Caribbean region are scarce and lacking altogether in Aruba, Bonaire and Curaçao (ABC islands). We performed a population-based surveillance study to determine the prevalence of structural congenital anomalies in the ABC islands, including all live births and stillbirths between January 1, 2008 and December 31, 2017 with major congenital anomalies according to EUROCAT guide 1.5. Terminations of pregnancy for fetal anomaly were included as well. Cases were identified by active case ascertainment, using multiple sources including pediatric patient files and discharge letters, delivery records, and clinical genetic patient files. Total and subgroup prevalence rates were compared between the three islands and to the French West Indies and Northern Netherlands. Total prevalence of congenital anomalies on the ABC islands was 242.97 per 10,000 births. Total prevalence of congenital anomalies in Bonaire (325.15 per 10,000 births) was higher compared to Aruba (233.29 per 10,000 births) and Curaçao (238.58 per 10,000 births), which was mainly attributable to a higher prevalence of limb anomalies, in particular polydactyly, in Bonaire. Total prevalence of congenital anomalies on the ABC islands was comparable to the French West Indies (248.69 per 10,000 births) but significantly lower compared to the Northern Netherlands (298.98 per 10,000 births). In the subgroup prevalence analysis, the prevalence of polydactyly and atrial septal defect on the ABC islands was significantly higher compared with the French West Indies and the Northern Netherlands, while the prevalence of congenital anomalies of the kidney and urinary tract and genetic disorders was significantly lower. This is the first study to establish the prevalence and pattern of congenital anomalies on the ABC islands, which is important to inform healthcare managers and policymakers and to provide a basis for continuous surveillance of congenital anomalies.

Prevalence and Pattern of Birth Defects in a Tertiary Hospital in Lalitpur, Nepal

Introduction: Birth defect is one of the least studied areas in most developing countries like Nepal where low birth weight, prematurity, sepsis, and perinatal asphyxia are still the leading causes of neonatal and infant mortality. However, studies have shown that the incidence of birth defects is increasing trend and has significant impacts on individuals, families, healthcare, and society. Awareness of birth defects is essential in both prevention as well as early intervention. The objective of this study was to find out the pattern and prevalence of birth defects presenting in newborns in KIST Medical College Teaching Hospital, Lalitpur, Nepal.Materials and Methods: This is a hospital-based cross-sectional, descriptive study conducted in the NICU, Nursery, and postnatal wards of KIST Medical College Teaching Hospital, Lalitpur, Nepal from August 2018 to August 2020. The study population included all inborn newborns with birth defects, stillbirths, and IUFD of more than 22 weeks gestation with birth defects. Outborn babies admitted in Nursery/NICU and abortions of less than 22 weeks gestation were excluded from the study. The data was collected using WHO based surveillance system with a clinicalreview. Data were analyzed using SPSS version 23. Prevalence and pattern of birth defects were expressed in frequency and percentages. Results: In a total delivery of 3360, the incidence of the birth defect was 3.75% (n=126). Of the total birth defects, 28.9% (n=112) were born alive and 11.1% (n=14) were stillborn. Among the live births, 2.4% (n=3) died during their hospital stay. The commonly occurring birth defects were cardiovascular (35.7%, n=45) followed by oro-facial defects (23%, n=29), genitourinary (15.9%, n=20), musculoskeletal (15%, n=19), central nervous system (15%, n=19), various syndromes (7.1%, n=9), gastrointestinal (4.7%, n=6) and respiratory (0.8%, n=1).Conclusions: The true magnitude of birth defects in Nepal is unknown due to the lack of national birth defect surveillance. The lack of proper data regarding birth defects is undermining its impact on perinatal health. Awareness about the birth defect and their prevalence can significantly affect the prevention strategy and the management plan in decreasing perinatal mortality and subsequent neonatal and infant mortality as well.

Aberrations in FGFR1, FGFR2, and RIP5 Expression in Human Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).

This study aimed to explore the spatio-temporal expression patterns of congenital anomalies of kidney and urinary tract (CAKUT) candidate genes, Fibroblast Growth Factor Receptor 1 (FGFR1), Fibroblast Growth Factor Receptor 2 (FGFR2) and Receptor-Interacting Protein Kinase 5 (RIP5), in human fetal kidney development (CTRL) and kidneys affected with CAKUT. Human fetal kidneys from the 22nd to 41st developmental week (duplex, hypoplastic, dysplastic, and controls) were stained with antibodies and analyzed by epifluorescence microscopy and RT-qPCR. The effect of CAKUT candidate genes on kidney nephrogenesis and function is confirmed by statistically significant variations in the spatio-temporal expression patterns of the investigated markers. The nuclear localization of FGFR1, elevated expression score of FGFR1 mRNA, the increased area percentage of FGFR1-positive cells in the kidney cortex, and the overall decrease in the expression after the peak at the 27th developmental week in dysplastic kidneys (DYS), suggest an altered expression pattern and protein function in response to CAKUT pathophysiology. The RT-qPCR analysis revealed a significantly higher FGFR2 mRNA expression score in the CAKUT kidneys compared to the CTRL. This increase could be due to the repair mechanism involving the downstream mediator, Extracellular Signal-Regulated Kinase 1/2 (ERK1/2). The expression of RIP5 during normal human kidney development was reduced temporarily, due to urine production and increased later since it undertakes additional functions in the maturation of the postnatal kidney and homeostasis, while the expression dynamics in CAKUT-affected kidneys exhibited a decrease in the percentage of RIP5-positive cells during the investigated developmental period. Our findings highlight the importance of FGFR1, FGFR2, and RIP5 as markers in normal and pathological kidney development.

Prevalence and Pattern of Congenital Malformations among Neonates in the Neonatal Unit of a Tertiary Care Hospital

Background and Aim: Globally, congenital anomalies (CA) are a major contributing factor for neonate’s admission in NICU causing neonatal morbidity and mortality particularly in developing countries. Congenital anomalies generally indicate the morphogenesis defect in an early neonate’s life. The leading cause for perinatal mortality is congenital anomalies that arise with advancement of delivery and care for newborn babies. The present study aimed to evaluate the prevalence and pattern of congenital anomalies among neonates admitted to neonatal unit. Methodology: This retrospective study was carried out on 1620 neonates (newborns to age 28 days) admitted to the neonatal unit of Services Hospital, Lahore from April 2020 to March 2022. The incidence, risk factors, and pattern of congenital anomalies were measured. Detailed examinations such as radiological, laboratory, ultrasonography, and echocardiography were recorded. Different outcomes such as hospital stay, morbidity, and mortality were determined with 95% confidence intervals. SPSS version 25 was used for data analysis. Results: Of the total 1620 admitted neonates, the prevalence of neonates with congenital anomalies were 112 (6.9%). Out of 112 neonates diagnosed with congenital anomalies, 64 (57.1%) were male and 48 (42.9%) were females. The incidence of cesarean and other modes of delivery were 74 (66%) and 38 (34%) respectively. Cardiovascular system malformation was the most prevalent affected system in 36 (31.9%) neonates followed by central nerve system 28 (25%), genitourinary system 19 (17%), musculoskeletal system 16 (14.3%), gastrointestinal tract 6 (5.4%), digestive system 4 (3.6%), and syndromes and skin 3 (2.7%). Congenital anomalies were significantly increasing over time. The incidence of discharged, referred to higher centers for intervention, and expired babies were 77 (68.8%), 19 (16.7%), and 16 (14.3%) respectively. Conclusion: The present study found that the prevalence of congenital anomalies was 6.9%. Cardiovascular system malformation was the most prevalent congenital anomaly followed by the central nerve system. The overall mortality rate was 14.3% caused by congenital anomalies. A better health care strategies and management must be developed in terms of early detection, supplementation facilitation, decreasing drug usage, and better antenatal care to prevent the impacts of congenital anomalies on neonates. Keywords: Prevalence, Pattern, Congenital anomalies, neonates

STUDY OF CONGENITAL ANOMALIES IN STILLBORN FETUSES THROUGH AUTOPSY

Background And Aims: Congenital anomalies may be dened in terms of physical structure as a malformation which are present at the time of birth or functional disturbance as a defect in which there is sufcient disturbance in the usual number, size, shape and location or inherent character of any part, organ, cell or its constituent. Therefore, congenital anomalies are alteration of normal anatomic structure present at the time of birth and are of social, diagnostic and clinical importance. The aim of the present study is to categorize the congenital anomalies based on the system of involvement through autopsy with a focus on sex ratio. This study consists of 36 stil Materials And Methods: l born fetuses and the fetuses are collected from the Department of Obstetrics and Gynecology, JSS Hospital, Mysore. Fetus is xed in 10% formalin and formalin is injected in thoracic cavity, abdominal cavity and cranial cavity for xation of the organs. The autopsies were carried out as per guidelines provided by standard fetal autopsy protocol. The occurrence of Congenital Anomalies was more common in m Results: ales than females. The pattern of Congenital Anomalies included CNS, Digestive system, urinary system and circulatory system. Even though the prenatal ultrasound reasonably Conclusion: predicts the malformations, fetal autopsy is essential to look for additional malformations. This study conrms the utility of fetal autopsy in identifying the cause of fetal loss which will help in counseling of the couple for future family planning

Pattern of congenital anomalies among pediatric surgical patients in a tertiary care hospital in northern Tanzania

BackgroundCongenital anomalies are major causes of morbidity and mortality in children under 5 years of age and make a significant contribution to the surgical burden of diseases. Most anomalies have...

Burden and pattern of congenital anomalies in newborns in a tertiary care hospital

Background: Anomaly is defined as a significant morphological or anatomic variation in the phenotype from the standard reference population. Objectives of current study was to investigate the incidence and pattern of congenital anomalies in the hospital delivered neonates, JNMCH, AMU, Aligarh.Methods: All the newborns delivered during the study period from October 2019 to November 2021 at JNMC, AMU, Aligarh were thoroughly examined and assessed for the presence of any congenital anomalies. Neonatal and maternal parameters were recorded in a predesigned proforma. Relevant investigations in the form of X-ray, ultrasonography and echocardiography were carried out in case of any suspected anomaly.Results: Out of the total 10932 neonates delivered during the study period, 197 babies had congenital malformations including 166 live births and 31 still births with an incidence of 1.8%. Musculoskeletal system was the most commonly system involved and congenital talipes equinovarus was the single most common malformation. Higher incidence of malformation was seen to be associated with still birth, prematurity, male gender and low birth weight babies.Conclusions: Regular antenatal checkups and anomaly scans can detect congenital malformations early. Pre conceptional counselling about maternal age at conception and birth order may help in preventing malformations associated with syndromes such as Down’s and Edward syndrome. Peri conceptional folate supplementation can prevent CNS malformations such as Neural tube defects significantly. Early diagnosis and treatment of maternal disease conditions like anemia, preeclampsia, hypertension and diabetes may affect occurrence of malformations.

Prevalence and Pattern of Birth Defects in a Tertiary Care Hospital in Bangladesh

Background: Birth Defect is one of the most important causes of neonatal mortality and morbidity worldwide. The pattern and prevalence of Birth Defects may vary overtime or with geographic location. The objective of the study to determine the prevalence and pattern of Birth Defects in live newborn admitted in Hospital.
 Materials & Methods: This cross-sectional descriptive study was carried in Neonatology and OBS-gynae department of Sir Salimullah Medical college Hospital during the period of July 2016 to December 2019. A total 306 babies with Birth Defects were examined and detailed history for any risk factor was taken. A through physical examination was performed. Confirmation of internal defect was done by various imaging modalities; i.e, radiography, ultrasound, echocardiography and CT scan. A detailed history was taken regarding maternal age, gestational age and previous delivery of abnormal baby.
 Results: During this period total 27799 was born alive, of which 306 had Birth Defects, the prevalence of Birth Defects was 1.1%. The predominant system involved was Musculoskeletal system (30%) followed by CNS (19%), oro-facial clefts (13%), GIT, CVS, Ear-nosethroat( 7%) and least involved system was urinary system(4%). Talipes was most common one in musculo-skeletal system defect and Anencephaly in CNS defect.
 Conclusion: Prevalence of Birth Defects is common among newborn admitted in hospital and musculoskeletal system is most commonly affected system. Birth Defects is upcoming issue in current newborn situation which need to be prioritized.
 Sir Salimullah Med Coll J 2022; 30: 23-28

Frequency Risk Factors and Pattern of Congenital Anomalies in Neonates in Nawabshah Pakistan

Objectives: The objectives of this study were to determine the frequency, risk factors and pattern of congenital anomalies in neonates admitted at a tertiary care hospital.
 Methodology: It was a descriptive cross-sectional study. Research was conducted at NICU Pediatric ward, PMCH Nawabshah. Duration of study was 6 months after the approval of synopsis from January 2020 to July 2020. This study involved 300 neonates in NICU which were screened for congenital anomalies. Age, gender and birth weight of the neonate was recorded. Mothers were also enquired about consanguinity and use of folic acid and smoking and diabetic status during pregnancy. Frequency and type of birth defect were noted and were compared across various subgroups based on various neonatal and maternal factors.
 Results: The mean age of the neonates was 10.5±7.4 days while the mean birth weight was 2.89±0.74 Kg. There were 174 (58.0%) male and 126 (42.0%) female neonates with a male to female ratio of 1.4:1. 77 (25.7%) neonates were low birth weight. Birth defect was noted in 35 (11.7%) neonates. 3 neonates had multiple anomalies. The frequency of birth defects was significantly higher in women with no use of folic acid during pregnancy (14.8% vs. 5.2%; p-value=0.015) and cousin marriage (16.6% vs. 2.8%; p-value<0.001).
 Conclusion: In the present study, 11.7% of neonates had birth defects comprising of congenital hydrocele, spina bifida, cleft lip/palate and club foot that were associated with lack of folic acid use during pregnancy and cousin marriages. Public awareness against cousin marriages and antenatal counseling of mothers for routine folic acid use during pregnancy should be assured for this.

Birth Outcomes in Women Who Have Taken Hydroxycholoroquine During Pregnancy: A Prospective Cohort Study.

Findings from previous small studies have been reassuring regarding the safety of treatment with hydroxychloroquine (HCQ) during pregnancy. In one recent study, it was demonstrated that the frequency of major birth defects was increased in women who had received HCQ at a dose of ≥400 mg/day during pregnancy. This study was undertaken to examine pregnancy outcomes among women following the use of HCQ. The study cohort comprised pregnant women who were prospectively enrolled in the MotherToBaby/Organization of Teratology Information Specialists Autoimmune Diseases in Pregnancy Study and were receiving treatment with HCQ. For the control groups, disease-matched women without HCQ exposure and healthy women were randomly selected from the same source, with subject matching using a 1:1 ratio. Data were collected through interviews, medical records, and dysmorphology examinations. Pregnancy outcome measures included the presence or absence of major and minor birth defects, rates of spontaneous abortion, rates of preterm delivery, and infant growth measures. Between 2004 and 2018, 837 pregnant women met the criteria for study inclusion, including 279 women exposed to HCQ during pregnancy and 279 women in each unexposed control group. Sixty pregnant women (7.2%) were lost to follow-up. Among the women with live births, major birth defects occurred as a pregnancy outcome in 20 (8.6%) of 232 women with HCQ exposure in the first trimester, compared to 19 (7.4%) of 256 disease-matched unexposed controls (odds ratio [OR] 1.18, 95% confidence interval [95% CI] 0.61-2.26) and 13 (5.4%) of 239 healthy controls (adjusted OR 0.76, 95% CI 0.28-2.05). Risks did not differ in women who were receiving an HCQ dose of ≥400 mg/day. No pattern of birth defects was identified. There were no differences in the rates of spontaneous abortion or preterm delivery between groups. Occurrence of infant growth deficiencies did not differ in the HCQ-exposed group compared to the disease-matched unexposed control group, except in the infant's head circumference at birth (adjusted OR 1.85, 95% CI 1.07-3.20). In this study, there was no evidence of an increased risk of structural birth defects or other adverse outcomes among women receiving HCQ during pregnancy, with the exception of infant head circumference at birth. For pregnant women being treated with HCQ, these findings are reassuring.

Cannabinoid and substance relationships of European congenital anomaly patterns: a space-time panel regression and causal inferential study.

With reports from Australia, Canada, USA, Hawaii and Colorado documenting a link between cannabis and congenital anomalies (CAs), this relationship was investigated in Europe. Data on 90 CAs were accessed from Eurocat. Tobacco and alcohol consumption and median household income data were from the World Bank. Amphetamine, cocaine and last month and daily use of cannabis from the European Monitoring Centre for Drugs and Drug Addiction. Cannabis herb and resin Δ9-tetrahydrocannabinol concentrations were from published reports. Data were processed in R. Twelve thousand three hundred sixty CA rates were sourced across 16 nations of Europe. Nations with a higher or increasing rate of daily cannabis use had a 71.77% higher median CA rates than others [median ± interquartile range 2.13 (0.59, 6.30) v. 1.24 (0.15, 5.14)/10 000 live births (P = 4.74 × 10−17; minimum E-value (mEV) = 1.52]. Eighty-nine out of 90 CAs in bivariate association and 74/90 CAs in additive panel inverse probability weighted space-time regression were cannabis related. In inverse probability weighted interactive panel models lagged to zero, two, four and six years, 76, 31, 50 and 29 CAs had elevated mEVs (< 2.46 × 1039) for cannabis metrics. Cardiovascular, central nervous, gastrointestinal, genital, uronephrology, limb, face and chromosomalgenetic systems along with the multisystem VACTERL syndrome were particularly vulnerable targets. Data reveal that cannabis is related to many CAs and fulfil epidemiological criteria of causality. The triple convergence of rising cannabis use prevalence, intensity of daily use and Δ9-tetrahydrocannabinol concentration in herb and resin is powerfully implicated as a primary driver of European teratogenicity, confirming results from elsewhere.

Pattern and distribution of prenatally diagnosed congenital anomalies among high risk pregnant women in Ibadan, South Western Nigeria.

IntroductionCongenital anomalies (CA) are structural or functional disorders present at birth. Routine prenatal ultrasound screening has become an indispensable tool for early detection of CA in developed countries which will facilitate appropriate preemptive actions for safe guarding the health of both mother and the unborn fetus. The prevalence of CA in the general population has been researched widely but very few studies exist on the prevalence of CA among high risk pregnancies. Aims and objective: the aim of this study was to determine the prevalence and pattern of congenital anomalies among high risk pregnant women in Ibadan, South West, Nigeria.Methodsthis multicenter cross sectional study was conducted in three different hospitals in Ibadan, South West, Nigeria between August 2018 and July 2019. High risk pregnant women that met the inclusion criteria were recruited for the study. Participants underwent detailed fetal anomaly scans at gestational ages between 18-26 weeks during the study period using a Voluson P6 ultrasound machine (GE Healthcare Korea). Written informed consents were obtained from the participants. All the fetuses with ultrasound diagnosed congenital anomalies were followed up till either termination of pregnancy or delivery. Ethical approval was obtained for the study. The data were analyzed using SPSS.Resultsa total of 418 high risk pregnant women underwent detailed fetal anomaly scan and CAs were detected in 13(3.1%) of them. Spontaneous abortion was the most common maternal risk factor reported although the association between it and congenital anomaly was not significant. The highest number of anomalies were detected in the genitourinary system while the least was in the central nervous system.Conclusionthe prevalence of high risk pregnant women is high in our environment but the incidence of CA among them is similar to that reported in the general population. Thus, prenatal ultrasonographic screening for congenital anomalies is necessary for all pregnant women irrespective of their risk status.