scholarly journals Prevalence and Pattern of Birth Defects in a Tertiary Referral Center

2021 ◽  
Vol 10 (1) ◽  
pp. 20-24
Author(s):  
Munjal Yadav ◽  
Shanti Subedi

Background: Congenital disorders (birth defects) are structural or functional abnormalities, which are present from birth, whether recognized at birth or later and constitute a major health problem worldwide.  Congenital anomalies occur in 3 to 5 % of all pregnancies and 2 to 3 % of all births. The exact magnitude of birth defect related events is still unrevealed. Prevalence is high in Nepal but true magnitude is still unknown. Materials and Methods: This is a prospective cross sectional study of all antenatal women who had an ultrasound revealing congenital anomalies as well who delivered with a fetal congenital malformation at department of Obstetrics and Gynecology, Nobel Medical College Teaching Hospital. Maternal variables like age, parity, period of gestation at detection, medical history, mode of delivery and complications were recorded. Fetal outcomes and details of anomalies were analyzed. Consanguinity and history of use of folic acid was also inquired. Results: Our institutional prevalence of congenital anomalies was 1.25%. The mean age of the mother is 25.88 years. Anencephaly was seen in 5 live birth among the mothers of consanguineous marriage. The predominant system involved was central nervous system 37(37%) followed by Musculoskeletal system 13 (13%). Most of them 38/56 (68%) were pre diagnosed by antenatal ultrasound only in the third trimester. Majority of them didn’t give history of the use of folic acid. Vaginal delivery was the preferred choice of the termination of pregnancy. Conclusion: Congenital anomaly rate was 1.25% and Central Nervous System was the predominant system involved with Anencephaly being common in consanguineous marriage.

2007 ◽  
Vol 7 (4) ◽  
pp. 294-300 ◽  
Author(s):  
Selma Aličelebić ◽  
Alma Arslanagić ◽  
Zakira Mornjaković

Congenital anomalies of the central nervous system (CNS) are common. The prevalence of these anomalies shows considerable geographical variation and female predominance. The aim of this work was to obtain the frequency of different CNS congenital anomalies types and their sex distribution among cases hospitalized in a Department of Neurosurgery, University of Sarajevo Clinics Center, Bosnia and Herzegovina, during the period January 2001 to December 2004. Retrospective study was carried out on the basis of the clinical records. Standard methods of descriptive statistics were performed for the data analysis. A total of 103 cases were surgically treated in the period from 2001 through 2004. Out of that number 56 (54,4%) were female patients, while 47 (46,6%) were male patients. Seven different CNS birth defect types were found in this investigation. These were: spina bifida (42 cases or 40,78%), congenital hydrocephalus (35 cases or 33,98%), arachnoid cyst (15 cases or 14,56%), Dandy-Walker syndrome (5 cases or 4,85%), dermoid cyst (4 cases or 3,88%), one of Arnold-Chiari syndrome (0,98%) and one of encefalocele (0,98%). According to this investigation, CNS congenital birth defects were slightly higher in females (54,4%). The most frequent types were spina bifida (40,78%) both in females (22,33%) and in males (18,45%), hydrocephalus (33,98%) and arachnoid cyst (14,56%). The anomalies of the other organ systems, associated with CNS anomalies obtained in this investigation, were pes equinovarus, cheiloshisis, cardiomegalia and palatoshisis. They were found in six cases (5,82%), equal in both sexes.


Author(s):  
Aluisio Rosa Gameiro Filho ◽  
Guilherme Sturzeneker ◽  
Ever Ernesto Caso Rodriguez ◽  
André Maia ◽  
Melina Correia Morales ◽  
...  

Abstract Background To report a case of acute exudative polymorphous paraneoplastic vitelliform maculopathy in a patient with a history of choroidal melanoma, with metastases to the pancreas, liver, and central nervous system. Case presentation A 63-year-old patient, with a history of enucleation of the right eye due to choroidal melanoma, complained of progressive visual loss during a follow-up visit. Fundoscopic examination revealed multiple small areas of serous retinal detachment scattered throughout the posterior pole and ancillary tests confirmed the diagnosis of acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM). Screening for systemic metastases showed pancreatic, hepatic, and central nervous system involvement. Conclusions We describe a rare case of acute exudative polymorphous paraneoplastic vitelliform maculopathy, which should be considered in patients with or without a history of melanoma, who have vitelliform retinal detachments. Nevertheless, no previous reviews of literature have shown a correlation between AEPPVM and pancreatic metastasis.


2021 ◽  
pp. 097275312199016
Author(s):  
S. P. Vinutha ◽  
D. Narayanappa ◽  
G. V. Manjunath ◽  
M. S. Sujatha ◽  
M. C. Sapna Patel ◽  
...  

Background: Congenital central nervous system (CNS) anomalies are the structural or functional abnormalities of the brain and spinal cord that occur during the intrauterine developmental process. Purpose: The present study aims to detect the prevalence of congenital CNS anomalies among stillborn fetuses, the association between congenital anomalies and maternal factors, and also the association between autopsy and ultrasound findings. Methods: This study was conducted on 50 stillborn fetuses, obtained from the Department of Obstetrics and Gynecology at JSS Medical College and Hospital, Mysuru. The fetuses were fixed in 10% formalin and autopsies were performed as per the standard fetal autopsy protocol. The congenital CNS anomalies were studied in detail. Results: CNS anomalies were the most common congenital anomalies observed. Out of the total 50 stillborn fetuses studied, CNS anomalies were found in 17 fetuses and their occurrence was more common among male stillborn than females. Meningomyelocele was the most common anomaly, followed by anencephaly. The other anomalies documented were meningocele, encephalocele, meningoencephalocele, agenesis of the corpus callosum, craniorachischisis, bifid cerebellum with hypoplastic vermis, holoprosencephaly, and sirenomelia. Fisher’s exact test showed a significant association between maternal hypothyroidism and congenital CNS anomalies ( P < .05). The autopsy confirmed the ultrasound findings in 40 (80%) fetuses. There were significant additional findings observed in seven (14%) fetal autopsies and ultrasound diagnosis completely changed in three (6%) cases, after the final autopsy procedure. Conclusion: The fetal autopsy is the single most directly evident investigation, which gives information that changes or significantly improves the clinical diagnosis. A multidisciplinary holistic approach toward pregnancy will help to detect any kind of abnormality in the fetus and thus to take a timely decision toward the management.


Cancer ◽  
1981 ◽  
Vol 47 (1) ◽  
pp. 184-196 ◽  
Author(s):  
David J. Stewart ◽  
Michael J. Keating ◽  
Kenneth B. McCredie ◽  
Terry L. Smith ◽  
Eshan Youness ◽  
...  

PEDIATRICS ◽  
1965 ◽  
Vol 35 (4) ◽  
pp. 589-595
Author(s):  
John Lorber

1. The family histories of 722 infants who were born with spina bifida cystica were studied. 2. The index cases were referred for surgical treatment and were not selected in any way from the genetic point of view. 3. Intensive inquiries were made to obtain a complete family pedigree, including a prospective follow-up of siblings born after the index case. 4. Of 1,256 siblings 85 or 6.8% had gross malformation of the central nervous system: spina bifida cystica in 54, anencephaly in 22, and uncomplicated hydrocephalus in 9. 5. Of 306 children born after the index case 25 (8%) or 1 in 12 were affected. 6. There was a progressive increase in multiple cases in the family with increasing family size. In sibships of five or more, multiple cases occurred in 24.1%. 7. In 118 families cases of gross malformation of the central nervous system were known to have occurred among members of the family other than siblings. Cases occurred in three generations. 8. It is possible that spina bifida cystica might be a recessively inherited condition.


1973 ◽  
Vol 71 (1-2) ◽  
pp. 1-8 ◽  
Author(s):  
Sylvio Celso Goncalves da Costa ◽  
Samuel B. Pessoa ◽  
Neize de Moura Pereira ◽  
Tania Colombo

The main object of the present paper is to furnish a brief account to the knowledgement of Protozoa parasitic in common Brazilian frog of the genus Leptodactylus for general students in Zoology and for investigators that use this frog as a laboratory animal. Hepatozoon leptodactyli (Haemogregarina leptodactyli) was found in two species of frogs - Leptodactylus ocellatus and L. pentadactylus - in which develop schizogony whereas sporogony occurs in the leech Haementeria lutzi as was obtainded in experimental conditions. Intracellular forms have been found in peripheral circulation, chiefly in erythrocytes, but we have found them in leukocytes too. Tissue stages were found in frog, liver, lungs, spleen, gut, brain and heart. The occurence of hemogregarine in the Central Nervous System was recorded by Costa & al,(13) and Ball (2). Some cytochemical methods were employed in attempt to differentiate gametocytes from trophozoites in the peripheral blood and to characterize the cystic membrane as well. The speorogonic cycle was developed in only one specie of leech. A brief description of the parasite is given.


2020 ◽  
pp. 1-6
Author(s):  
Stav Gazal ◽  
Eyal Lebel ◽  
Yosef Kalish ◽  
Chen Makranz ◽  
Moshe E. Gatt ◽  
...  

<b><i>Background:</i></b> Venous thromboembolism (VTE) is a frequent, potentially lethal complication in individuals with cancer. Patients with brain tumors are at particularly high risk for VTE. Primary central nervous system lymphoma (PCNSL) is a rare subtype of diffuse large B cell lymphoma, involving the craniospinal axis. The incidence of VTE in patients with PCNSL was reported as very high, occurring mostly in the early period of therapy. <b><i>Objectives:</i></b> We aimed to evaluate the efficacy and safety of prophylactic low-molecular-weight heparin (LMWH) throughout the treatment of PCNSL. <b><i>Patients:</i></b> All patients &#x3e;18 years of age diagnosed and treated for PCNSL at our institution in 2005–2017 were included. <b><i>Results:</i></b> There were 44 patients; mean age at diagnosis was 61.5 years. Three patients (6.8%) had a personal history of thrombosis, 11 (25%) had a history of diabetes or smoking, and 32 (72%) had an Eastern Cooperative Oncology Group performance status of 0–1 at diagnosis. During treatment with LMWH, no VTE events were recorded; 2 (4.5%) patients experienced a minor bleeding event and 1 (2.3%) a major bleeding event. <b><i>Conclusions:</i></b> Among our 44 patients with PCNSL treated with prophylactic LMWH, no VTE events were recorded, and only 1 (asymptomatic) intracranial bleed was recorded. Within the limitations of a retrospective nonrandomized study, our findings suggest that VTE prophylaxis may be beneficial for individuals with PCNSL.


2020 ◽  
Vol 14 (5) ◽  
pp. 588-594
Author(s):  
Nathalie Auger ◽  
Justin Côté-Daigneault ◽  
Marianne Bilodeau-Bertrand ◽  
Laura Arbour

Abstract Background and Aims The relationship between inflammatory bowel disease in pregnancy and birth defects is not understood. We evaluated whether Crohn’s disease and ulcerative colitis in pregnant women were associated with the risk of birth defects in the offspring. Methods We undertook a retrospective cohort study of 2 184 888 pregnancies in Quebec, Canada, between 1989 and 2016. We calculated risk ratios [RR] and 95% confidence intervals [CI] for the association between inflammatory bowel disease and the risk of birth defects, using generalised estimating equations adjusted for maternal characteristics. We assessed associations in the period before 2000, when immunosuppressive biologic therapy and folic acid food fortification were not yet available, compared with the period after 2000 when these interventions were more widespread. Results This study included 13 099 women with Crohn’s disease and 7798 with ulcerative colitis. Crohn’s disease was associated with 1.90 times [95% CI 1.10–3.28] the risk of abdominal wall defects [gastroschisis, omphalocoele, and diaphragmatic hernia] and ulcerative colitis was associated with 1.53 times [95% CI 1.02–2.30] the risk of central nervous system defects. The association of Crohn’s disease with abdominal wall defects was stronger before 2000 [RR 3.62, 95% CI 1.71–7.67] than after 2000 [RR 1.23, 95% CI 0.55–2.75]. Ulcerative colitis was associated with central nervous system defects regardless of time period. Conclusions These findings suggest that inflammatory bowel disease is associated with the risk of abdominal wall and central nervous system defects, and that introduction of immunobiologic medications is unlikely to be associated with added risk. Podcast This article has an associated podcast which can be accessed at https://academic.oup.com/ecco-jcc/pages/podcast


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