scholarly journals Understanding Etiology of Chromosome 21 Nondisjunction from Gene X Environment Models

Author(s):  
Pinku Halder ◽  
Upamanyu Pal ◽  
Agnish Ganguly ◽  
Papiya Ghosh ◽  
Anirban Ray ◽  
...  

Abstract Maternal risk factors and their interactions with each other that associate chromosome 21 nondisjunction are intriguing and need incisive study to be resolved. We determined recombination profile of nondisjoined chromosome 21 and maternal genotypes for four selected polymorphic variants from the folate regulators genes stratifying the women according to the origin of segregation error and age at conception. We conducted association study for genotype and maternal habit of smoke less chewing tobacco with the incidence of Down syndrome birth. Additionally, we designed various logistic regression models to explore the effects of genotype, smokeless chewing tobacco habit, maternal age at conception and all possible interactions among them on chromosome 21 nondisjunction. We found folate regulator gene mutations are associated with maternal meiosis II error. Regression models revealed smokeless chewing tobacco and folate regulator mutant genotypes interact with each other to increase the risk of reduced and peri-centromeric recombination events on chromosome 21 that nondisjoined at meiosis II in the oocytes and the effect is maternal age independent. We inferred maternal polymorphic genotypes and habit of smokeless chewing tobacco interact with each other and increase the risk of meiosis II error in oocytes in maternal age-independent manner.

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Pinku Halder ◽  
Upamanyu Pal ◽  
Agnish Ganguly ◽  
Papiya Ghosh ◽  
Anirban Ray ◽  
...  

AbstractMaternal risk factors and their interactions with each other that associate chromosome 21 nondisjunction are intriguing and need incisive study to be resolved. We determined recombination profile of nondisjoined chromosome 21 and maternal genotypes for four selected polymorphic variants from the folate regulators genes stratifying the women according to the origin of segregation error and age at conception. We conducted association study for genotype and maternal addiction to smokeless chewing tobacco, usually chopped tobacco leaves or paste of tobacco leaves with the incidence of Down syndrome birth. Additionally, we designed various logistic regression models to explore the effects of maternal genotype, maternal habit of smokeless chewing tobacco, maternal age at conception and all possible interactions among them on chromosome 21 nondisjunction. We found folate regulator gene mutations are associated with maternal meiosis II error. Regression models revealed smokeless chewing tobacco and folate polymorphic/mutant risk genotype interact with each other to increase the risk of reduced and single peri-centromeric recombination events on chromosome 21 that nondisjoined at meiosis II in the oocytes and the effect is maternal age independent. We inferred maternal folate polymorphic/mutant risk genotypes and habit of smokeless chewing tobacco interact with each other and increase the risk of meiosis II error in oocytes in maternal age-independent manner.


2019 ◽  
Vol 48 (2) ◽  
pp. 7-12
Author(s):  
Alpana Adhikary ◽  
Anwara Begum ◽  
Fahmida Sharmin Joty ◽  
Nihar Ranjan Sarker ◽  
Rifat Sultana

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


2020 ◽  
Vol 9 (10) ◽  
pp. 3276
Author(s):  
Veronica Giorgione ◽  
Amar Bhide ◽  
Rohan Bhate ◽  
Keith Reed ◽  
Asma Khalil

Studies have reported controversial findings on the association between fetal growth restriction (FGR) or intertwin weight discordance and the risk of hypertensive disorders of pregnancy (HDP) in twin pregnancies. The aim of this study was to investigate the association between twin growth disorders and HDP. Twin pregnancies resulting in two live births at St George’s Hospital between 2000 and 2019 were included. FGR or small-for-gestational-age (SGA) at birth was assessed using singleton and twin reference charts. Intertwin discordance [(large birthweight − small birthweight)/(large birthweight) × 100%)] was calculated. Logistic regression models were performed. SGA (aOR 2.34, 95% CI 1.60–3.44, p < 0.001), intertwin discordance ≥25% (aOR 2.10, 95% CI 1.26–3.49, p = 0.004) and their co-existence (aOR 2.03, 95% CI 1.16–3.54, p = 0.013) were significantly associated with HDP. After adjusting for the known maternal risk factors of HDP and the intertwin discordance, SGA (using the twin charts) was the strongest independent risk factor associated with HDP (aOR 2.12, 95% CI 1.40–3.22, p < 0.001) and preeclampsia (aOR 2.34, 95% CI 1.45–3.76, p < 0.001). This study highlights that the presence of at least one SGA twin is significantly associated with HDP during pregnancy. Therefore, maternal blood pressure should be closely monitored in twin pregnancies complicated by SGA with or without intertwin discordance.


2019 ◽  
Vol 10 (3) ◽  
pp. 1904-1909
Author(s):  
Adel J. Hussein

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.


2018 ◽  
Vol 23 (suppl_1) ◽  
pp. e4-e4
Author(s):  
Jennifer Smith ◽  
Astrid Guttmann ◽  
Alexander Kopp ◽  
Michelle Shouldice ◽  
Katie Harron

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.


Rheumatology ◽  
2019 ◽  
Vol 59 (7) ◽  
pp. 1514-1521
Author(s):  
Nevena Rebić ◽  
Eric C Sayre ◽  
Enav Z Zusman ◽  
Neda Amiri ◽  
Corisande Baldwin ◽  
...  

Abstract Objectives To characterize the utilization and discontinuation of medications before, during and after pregnancy among women with RA. Methods We used population-based administrative data to identify women with RA who had a singleton pregnancy ending in delivery between 1 January 2002 and 31 December 2012. We assessed the utilization of RA medications, namely, conventional synthetic DMARDs, biologics, glucocorticosteroids and NSAIDs, across six windows spanning 24 and 12 months before the start of pregnancy, each trimester of pregnancy and 12 months post-pregnancy. We defined medication discontinuation as no prescription in a given window following a prescription in the preceding window and evaluated predictors using logistic regression models, calculating adjusted odds ratios (ORs) and 95% CIs. Results We studied 1730 pregnancies in 1301 women with RA (mean age at delivery 31.4 ± 5.4 years). We observed substantial medication discontinuation, particularly in the first trimester, with discontinuation of antimalarials in 57.3% of patients, azathioprine 59.1%, sulfasalazine 69.5% and biologics 50.8%. Factors inversely associated with discontinuation of antimalarials in the first trimester were maternal age [OR 0.90 (95% CI 0.86, 0.95)] and number of rheumatology visits [OR 0.86 (95% CI 0.75, 0.97)] and for biologics, prior adverse birth outcome [OR 0.22 (95% CI 0.05, 0.95)]. Conclusion Our population-based study shows frequent discontinuation of medications for RA, particularly in the first trimester. Findings indicate a need to educate women with RA who are planning pregnancy on the benefits and risks of medications during pregnancy.


2021 ◽  
Vol 4 (1) ◽  
pp. 73
Author(s):  
Jianti Fina Lestari ◽  
Risa Etika ◽  
Pudji Lestari

Abstract Background: Low Birth Weight Babies (LBW) accounts for 60 - 80% of all neonatal deaths in the world. Not the only major predictor of mortality and morbidity in neonates, individuals with a history of LBW have a greater risk of experiencing various diseases such as hypertension, heart disease, and diabetes later in life. This systematic review study aims to identify maternal risk factors that contributing to LBW Method: Articles published between 2015 - 2020 in the Science Direct, Scopus and Cochrane library databases are systematically reviewed. Eleven articles that met the inclusion and exclusion criteria were included as samples for further review. Results regarding maternal risk factors for LBW events are synthesized systematically .Results: From the search results, there were 818 articles, after the screening process, the final results were 11 articles. Risk factors that are significantly related to LBW incidence in the article, are grouped in the subtheme, include: maternal age (<20 years, and each increase in age), parity (primipara and grandemultipara), low maternal upper arm circumference, hemoglobin levels less than 11 gr / dl, gestational age below 37 weeks, and complications during pregnancy. Conclusion: maternal age, parity, arm circumference, hemoglobin level, gestational age, and complications during pregnancy were significaly found to be maternal risk factors for LBW. 


Author(s):  
Manish Agrawal ◽  
Kriti Bhatnagar

Background: India has made considerable progress over the last two decades in the area of maternal and child health, through innovative and comprehensive health packages that covers the spectrum of Reproductive Child Health (RCH). Awareness of the special vulnerability of the cohort of mothers with ‘high risk factor’ has led to the popular recognition of ‘risk approach’, involving the optimal use of existing MCH services, providing essential obstetrical care for all with early detection of complications and emergency services for those who need it, thus reducing the need for intensive care along with reduction in perinantal mortality. The objective was to assess the prevalence of various maternal risk factors in pregnant women in hospital admissions and their correlation with perinatal mortality.Methods: The present study was carried out on 2050 consecutive deliveries from 1st April 2015 to 31st March 2016 at Department of Obstetrics and Gynecology and Department of Pediatrics, Muzaffarnagar Medical College, Muzaffarnagar Uttar Pradesh, India. All the pregnant women were interviewed and examined in detail at the onset of labor regarding various biosocio-economic characteristics, history of past and present medical and obstetrical complications.Results: The PNMR (93.66/1000 birth) observed in present study was still at a higher level and comparable to that in other studies done by various authors in past in this region. A significantly higher PNMR was observed with increase in maternal age and parity (3 times higher PNMR at >35 years and 2 ½ times higher PNMR at parity >5). Similarly, medical illnesses (3 times higher PNMR) and obstetrical complications (1.5 times higher PNMR) during present pregnancy were showing significant effect on perinatal outcome. In a multivariate analysis, residence (rural /urban), place and number of antenatal visits, gestational age and type of delivery remained as most significant maternal risk factors (p<0.005) after multiple logistic regression of other factors viz. maternal age, height, weight, parity, education, socio-economic status and antepartum anemia.Conclusions: It is heartening to observe that highest risk is associated with simple and easily identifiable factors like, unbooked cases, <3 antenatal visits, severe anemia, age >35 years, parity >5, weight <40 kg, height < 140cm , poor dietary calories, medical and obstetrical complications. These can identified from history only by grass root workers like traditional birth attendants and even elderly female family members. These risk determinants, labeled as simple but ‘high’ high risk are associated with poor perinatal outcome. If these factors are timely identified at community level and appropriately referred by grass root workers, it will significantly reduce perinatal mortality and improve neonatal survival.


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

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.


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