Chromosomal Abnormalities among Children with Congenital Malformations

2010 ◽  
Vol 10 (1-3) ◽  
pp. 57-63 ◽  
Author(s):  
Radhakrishnan Yashwanth ◽  
Nallathambi Chandra ◽  
P M. Gopinath
Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.


1999 ◽  
Vol 18 (8) ◽  
pp. 7-15 ◽  
Author(s):  
Ann Cox

Autosomal trisomies are associated with major congenital malformations that may result in prolonged hospitalization of the newborn. Knowledge about these chromosomal abnormalities is important for nurses in neonatal practice. This article identifies the causes and manifestations of most of these trisomies: trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome). More detailed description of the manifestations, associated abnormalities, and outcomes of the most common of these, trisomy 21, is provided.


1997 ◽  
Vol 9 (2) ◽  
pp. 61-71 ◽  
Author(s):  
H Fox

A baby may be small for a variety of reasons, but there are certain overt maternal and fetal factors which may lead to, or are associated with, a poor fetal growth rate. Pre-eminent amongst the maternal factors is severe pre-eclampsia and in women with this disease the smallness of the baby is almost certainly due to the inadequacy of the uteroplacental circulation. Other maternal factors of importance are cigarette smoking, drug abuse and certain infections such as malaria. The most obvious fetal factors associated with a low birth weight are congenital malformations and chromosomal abnormalities, and there the failure of the fetus to achieve a normal weight is clearly an expression of a generalised disorder of growth and is unrelated to the adequacy or otherwise of the placenta. If cases such as these are removed from consideration, there remains an important residue of unduly small infants who are delivered after an apparently uncomplicated pregnancy, are free from congenital malformations and have a normal karotype; it is this group which is considered here.


Author(s):  
I. I. Tunde-Oremodu ◽  
O. A. Okosun ◽  
U. Idholo ◽  
A. S. Ujuanbi ◽  
K. K. Odinaka ◽  
...  

Background: Congenital malformations (CM) are significant causes of childhood morbidity and mortality impacting negatively on the affected family’s emotional and financial life. It also results in an enormous burden on a nation’s health and socio-economic systems. However, few studies on CM have emanated from developing countries including Nigeria and specifically from Yenagoa, Bayelsa State which is located in the oil rich Niger Delta region. We therefore analyzed the prevalence, pattern and outcome of management of babies with CM seen at the Neonatal unit (SCBU) of the Federal Medical Centre, Yenagoa. This could be used as evidence for policy makers to develop and implement CM surveillance, prevention and supportive programs. Methods: This was a descriptive observational study of all neonates with CM admitted into the Special Care Baby Unit (SCBU) over a one year period from 1st February 2017 to 31st January 2018. Identification and confirmation of congenital anomalies was done by physical examination, diagnostic investigations and surgical interventions. The conditions were classified organ and system-wise except for the chromosomal abnormalities. The prevalence and pattern of defects were determined, while factors related to the outcome of the anomalies were calculated with odds ratio and 95% confidence interval. Data entry and analysis were performed using excel and SPSS version 22. Results: Among the 502 newborn admissions during the study period, congenital anomalies were found in 61 newborns, giving a prevalence rate of 12.2% with a female preponderance of 55.7%. The commonest CM were those related to the cardiovascular system (47.5%) followed by the digestive system (32.8%) then musculoskeletal system (19.7%). The mean duration of care was 9.7± 9.0 days with mortality of 30.5% recorded at that period. Babies with CM affecting the cardiovascular system and chromosomal anomalies were less likely to survive although these relationships were not statistically significant (p > 0.05). However, duration of care showed a statistically significant relationship with outcome as babies who spent one day and less in the neonatal unit  had  reduced odds of a favourable outcome (OR – 0.07). An increased odd of survival (OR – 2.09) was seen in babies with only one congenital birth defect. Conclusion: A high prevalence of Congenital malformations in newborns was demonstrated in this study. This has highlighted the need for a well-designed surveillance, prevention and supportive hospital, State and National programme for affected babies and their families.


2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Adil Elghanmi ◽  
Rachid Razine ◽  
Mohamed Jou ◽  
Rachid Berrada

Congenital malformations are one of the leading causes of neonates and infants’ mortality and morbidity. The frequency of these congenital malformations varies in different populations. The objective of this study was to find out the prevalence and pattern of congenital malformations in a tertiary teaching hospital in Rabat, Morocco. This four-year retrospective descriptive study was conducted from January 2011 to December 2014. All newborns with congenital malformations diagnosed at birth were included. Mothers and newborn characteristics were analyzed using SPSS 13.0. A total of 706 newborns were noted to have congenital malformation. The prevalence rate was 1.02%. The mean maternal age was 28.8±7.2 years. The mean maternal body mass index was 28.1±6.9 kg/m2. 13.3% of the mothers had a history of abortion. The nervous system was the most affected system (19.4%) followed by the musculoskeletal system (14.2%), the chromosomal abnormalities (12.3%) and the genito-urinary system (10.8%). Males newborns (57.9%) had more congenital malformations than females (40.5%). The rates for live-births, fetal asphyxia and stillbirths were 75.2%, 7.2% and 17.3%, respectively. This retrospective study provides recent and detailed data about congenital malformations in a Moroccan region. The result from this study will contribute to the knowledge of congenital malformations in this particular area and hence the supportive preventive policy.


Author(s):  
Е.Е. Баранова ◽  
Е.Е. Заяева ◽  
Л.А. Жученко ◽  
С.П. Щелыкалина ◽  
В.Л. Ижевская

Проанализировано мнение 800 беременных женщин, проходящих ранний пренатальный скрининг (РПС) врожденных пороков развития и хромосомных аномалий у плода, относительно различных характеристик пренатальных тестов Проведенный опрос позволит сравнить результаты с другими странами, где НИПТ используется в РПС, и выработать собственные рекомендации. Relatively different characteristics of prenatal tests, the opinion of 800 pregnant women undergoing early prenatal screening (EPS) of congenital malformations and chromosomal abnormalities in the fetus was analyzed. The survey will allow you to compare the results with other countries where NIPT is used in the EPS, and to develop our own recommendations.


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