scholarly journals Investigation of CBS, MTR, RFC-1 and TC Polymorphisms as Maternal Risk Factors for Down Syndrome

2009 ◽  
Vol 26 (4) ◽  
pp. 155-161 ◽  
Author(s):  
N. Fintelman-Rodrigues ◽  
J. C. Corrêa ◽  
J. M. Santos ◽  
M. M. G. Pimentel ◽  
C. B. Santos-Rebouças
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Control Sample ◽  
Advanced Maternal Age ◽  
Bonferroni Correction ◽  
Maternal Risk Factors ◽  
Dna Hypomethylation ◽  
Maternal Risk

Recent evidence shows that almost 92% of the DS children are born from young mothers, suggesting that other risk factors than advanced maternal age must be involved. In this context, some studies demonstrated a possible link between DS and maternal polymorphisms in genes involved in folate metabolism. These polymorphisms, as well as low intake of folate could generate genomic instability, DNA hypomethylation and abnormal segregation, leading to trisomy 21. We compared the frequency ofCBS844ins68,MTR2756A>G,RFC-1 80G&gt A andTC776C>G polymorphisms among 114 case mothers and 110 matched controls, in order to observe whether these variants act as risk factors for DS. The genotype distributions revealed that there were not significant differences between both samples. However, when we proceed the multiplicative interaction analyses between the four polymorphisms described above together with the previously studiedMTHFR677C>T,MTHFR1298A>C andMTRR66A>G polymorphisms, our results show that the combined genotypeTC776CC /MTHFR677TT andTC776CC /MTR2756AG were significantly higher in the control sample. Nevertheless, there was no significant association after Bonferroni correction. Our results suggest that maternal folate-related polymorphisms studied here have no influence on trisomy 21 susceptibility in subjects of Brazilian population.

scholarly journals Maternal Risk Factors of Placenta Praevia and Its Effects on Maternal and Fetal Outcome

2019 ◽  
Vol 48 (2) ◽  
pp. 7-12
Author(s):  
Alpana Adhikary ◽  
Anwara Begum ◽  
Fahmida Sharmin Joty ◽  
Nihar Ranjan Sarker ◽  
Rifat Sultana
Keyword(s):  
Risk Factors ◽  
Maternal Age ◽  
Advanced Maternal Age ◽  
Fetal Outcome ◽  
Placenta Praevia ◽  
Maternal Risk Factors ◽  
High Parity ◽  
Maternal Risk ◽  
Antepartum Haemorrhage ◽  
History Of

Placenta praevia is one of the most serious obstetric emergencies, which continues to be an important contributor to perinatal mortality and is responsible for leading maternal and infant morbidity. Very few data on etiology of placenta praevia are available till now. This study aims to explore the maternal risk factors related to occurrence of placenta praevia and its effects on maternal and fetal outcome. This cross-sectional observational study was carried out among 3279 obstetrics patients admitted in labour ward in the Department of Obstetrics and Gynecology, Sher-e-Bangla Medical College Hospital from January to December 2006. Out of 3279 obstetrics patients 93 placenta praevia cases were identified purposively as study subjects. The patients of placenta praevia were selected either diagnosed clinically by painless antepartum haemorrhage or asymptomatic placenta praevia diagnosed by ultrasonography irrespective of age, gestational age, parity, booking status. Pregnant woman admitted with painful antepartum haemorrhage were excluded from the study. With the ethical approval from the Institutional Ethical Committee (IEC), patients were selected after taking their written consent. A structured questionnaire and a chick list were designed with considering all the variables of interest. Out of 93 respondents, 73.88% were associated with risk factors in addition to advanced maternal age and high parity. Among them 24.73%, 33.33% and 7.52% had history of previous caesarean section (CS), MR and abortion and both CS & abortion previously. Patients aged above 30 years were 47% and 35.48% were in their 5th gravid and more; whereas, 31.18% patients were asymptomatic, 68.82% patients presented with varying degree of vaginal bleeding, among them 12.08% were in shock. Active management at presentation was done on 76.34% patients and 23.66% were managed expectantly. CS was done o 82.79% patients and only 17.2% were delivered vaginally. Case fatality rate was 1.07% and about 22% perinatal death was recorded, majority belonged to low birth weight (<1500 gm). About 10% patients required caesarean hysterectomy, 3.22% required bladder repair. Advanced maternal age, high parity, history of previous CS and abortion found to be common with the subsequent development of placenta praevia. Proper diagnosis, early referral and expectant management of patients will reduce prematurity, thereby improvised foetal outcome but to improve maternal outcome rate of primary CS have to be reduced and increase practice of contraception among women of reproductive age. Bangladesh Med J. 2019 May; 48 (2): 7-12

scholarly journals What Causes Down Syndrome?

2021 ◽  
Author(s):  
Emine Ikbal Atli
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Extra Chromosome ◽  
Advanced Maternal Age ◽  
Chromosome 21 ◽  
Human Phenotype ◽  
Meiosis I ◽  
Dosage Imbalance

Trisomy 21 (Down Syndrome) is the model human phenotype for all genome gain-dosage imbalance situations, including microduplications. Years after the sequencing of chromosome 21, the discovery of functional genomics and the creation of multiple cellular and mouse models provided an unprecedented opportunity to demonstrate the molecular consequences of genome dosage imbalance. It was stated years ago that Down syndrome, caused by meiotic separation of chromosome 21 in humans, is associated with advanced maternal age, but defining and understanding other risk factors is insufficient. Commonly referred to as Down syndrome (DS) in humans, trisomy 21 is the most cited genetic cause of mental retardation. In about 95% of cases, the extra chromosome occurs as a result of meiotic non- nondisjunction (NDJ) or abnormal separation of chromosomes. In most of these cases the error occurs during maternal oogenesis, especially in meiosis I.

Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico

2019 ◽  
Author(s):  
Jorge Román Corona‐Rivera ◽  
Rafael Nieto‐García ◽  
Andrea S. Gutiérrez‐Chávez ◽  
Lucina Bobadilla‐Morales ◽  
Izabel M. Rios‐Flores ◽  
...  
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Maternal Risk Factors ◽  
Maternal Risk ◽  
Western Mexico

Abnormal folic acid-homocysteine metabolism as maternal risk factors for Down syndrome in Japan

2004 ◽  
Vol 43 (5) ◽  
pp. 285-287 ◽  
Author(s):  
Noboru Takamura ◽  
Tatsuro Kondoh ◽  
Syohei Ohgi ◽  
Kokichi Arisawa ◽  
Mariko Mine ◽  
...  
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Folic Acid ◽  
Maternal Risk Factors ◽  
Maternal Risk

scholarly journals Maternal risk factors for low birth weight of neonates in al- diwaniyah province, iraq

2019 ◽  
Vol 10 (3) ◽  
pp. 1904-1909
Author(s):  
Adel J. Hussein
Keyword(s):  
Risk Factors ◽  
Birth Weight ◽  
Prenatal Care ◽  
Low Birth Weight ◽  
Cesarean Section ◽  
Teaching Hospital ◽  
Maternal Age ◽  
Maternal Risk Factors ◽  
Socioeconomic Condition ◽  
Maternal Risk

The LBW infants as weighting less than 2.5kg at birth. Infants with low birth weight are probable to suffer medical troubles and delay development from the time of delivery to adult life. This study was planned to discover the prevalence of LBW infants in Ad-Diwaniyah city (Iraq) and the maternal risk factors, which contribute to the occurrence of low birth weight, and it is rated and what the suitable recommendations can be made to prevent this problem.  Unfortunately, in Iraq, several studies reveal an increase in the delivery of LBW infants in the last years. The present study was aimed to identify the prevalence of LBW and possible maternal factors in children, teaching hospital in Al-Diwaniyah city during the period of the beginning of February 2017 to February 2018. This is a cross-sectional survey held out in Pediatric, teaching hospital through 1012 pregnant mothers giving a live LBW. Whole children weight on a weighing machine. Data was collected through the interview of mothers. Maternal age and education level, socioeconomic condition, number of prenatal visits, interpregnancy interval and maternal diseases, and infant gender were registered in questionnaire format. The result of the current study detects that the rate of LBW was 20.2%. The highest percentage of them (LBW) was preterm 67.4% and full, term (IUGR) 32.5%. 61.5% of the children in the LBW group were male, and 38.4% were female.  Besides the outcome indicates that there are many important risk factors contributed to the incidence of LBW, these are; multiple pregnancies were found to be 66.8% of LBW infants,  maternal age 21 – 35 years (39.7%),  lack of Prenatal Care (60.3%),  delivery by cesarean section (70.6%),  mothers who illiterate (64.8%),  a large number of mothers from the rural area (68.6%),  the presence of maternal diseases (63.5%),  all these are considered a risk factor. The current study demonstrates the essential elements give rise to low birth weight in neonates are gestational age (preterm delivery), maternal education and age, multiple births, regular prenatal care, cesarean section, and bad obstetric history.

Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China

2013 ◽  
Vol 288 (2) ◽  
pp. 273-277 ◽  
Author(s):  
Shao-shuai Wang ◽  
Chao Wang ◽  
Fu-yuan Qiao ◽  
Juan-juan Lv ◽  
Ling Feng
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Maternal Risk Factors ◽  
Maternal Risk

scholarly journals DATA LINKAGE FOR EVALUATING MATERNAL INFLUENCES ON INFANT MORTALITY AND MALTREATMENT IN CANADA

2018 ◽  
Vol 23 (suppl_1) ◽  
pp. e4-e4
Author(s):  
Jennifer Smith ◽  
Astrid Guttmann ◽  
Alexander Kopp ◽  
Michelle Shouldice ◽  
Katie Harron
Keyword(s):  
Public Health ◽  
Risk Factors ◽  
Child Maltreatment ◽  
Infant Mortality ◽  
Maternal Age ◽  
Maternal Risk Factors ◽  
Maternal Risk ◽  
Increased Risk ◽  
All Cause Mortality ◽  
Young Maternal Age

Abstract BACKGROUND A number of social risk factors are reported to increase infant mortality rates and child maltreatment. Public health programs attempt to mitigate risk factors and improve outcomes for infants. This study aimed to explore the association of exposure factors in mothers with infant mortality and maltreatment in Ontario. OBJECTIVES Objectives for this study included: 1. Describe prevalence of infant mortality and maltreatment in Ontario. 2. Explore how maternal risk factors influence infant mortality and maltreatment. DESIGN/METHODS This was a population-based study of 845, 567 infants born between April 1, 2005 and March 31, 2015 using administrative and healthcare databases available at the Institute of Clinical Evaluative Sciences (ICES). Maternal risk factors were selected based on public health home visiting referral criteria. These exposures included, maternal adversity (substance abuse, intimate partner violence, homelessness), newcomer status (new to Canada in past 3 years) and young maternal age (less than 22 years of age). The primary outcome measure was all-cause mortality of infants less than 12 months age. The secondary outcome measures were combined fatal and non-fatal child maltreatment outcomes and were defined using International Classification of Diseases for maltreatment diagnoses. Baseline characteristics and outcomes were described. The association between maternal risk factors and infant mortality and maltreatment was analysed using multivariable logistic modelling, including analysis by type of maternal risk factors and number of risk factors. RESULTS All-cause deaths were present in 0.14% and combined fatal and non-fatal maltreatment outcomes were present in 0.05% of the study population. Young maternal age increased the risk of all-cause mortality 2.4 times (n 171, OR 2.4, 95% CI 2.0–3.0) and maltreatment 6.3 times (n 292, OR 6.3, 95% CI 5.0–7.8). Mental health diagnosis increased the odds of maltreatment by 90% (n 209, OR 1.9, 95% CI 1.5–2.4). Adversity increased the odds of maltreatment by 63% (n 40, OR 1.63, 95% CI 1.0–2.6). The risk of maltreatment also increased as the number of risk factors increased with an OR of 3.5 (95% CI 2.9–4.4) with one risk factor, an OR of 8.2 (95% CI 5.9–11.4) with two risk factors, and an OR of 10.9 (95% CI 5.7 20.7) with three or more risk factors. Newcomer status was not associated with increased risk of maltreatment and mortality. Gestational age showed increasing ORs as prematurity increased. Material deprivation was included as a covariate and was associated with increased risk of maltreatment with increased level of deprivation. CONCLUSION Young maternal age carried the greatest risk of death and maltreatment in infants. There was also an increasing risk of infant mortality and maltreatment with increasing number of risk factors. These findings are important for ensuring public health interventions are targeting the most vulnerable populations with the aim of preventing maltreatment.

Sign in / Sign up

Export Citation Format

Share Document