scholarly journals Understanding etiology of chromosome 21 nondisjunction from gene × environment models

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.

2021 ◽  
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.


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


Nutrients ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2569
Author(s):  
Andrea Gila-Díaz ◽  
Gloria Herranz Carrillo ◽  
Silvia Cañas ◽  
Miguel Saenz de Pipaón ◽  
José Antonio Martínez-Orgado ◽  
...  

Breast milk (BM) is beneficial due to its content in a wide range of different antioxidants, particularly relevant for preterm infants, who are at higher risk of oxidative stress. We hypothesize that BM antioxidants are adapted to gestational age and are negatively influenced by maternal age. Fifty breastfeeding women from two hospitals (Madrid, Spain) provided BM samples at days 7, 14 and 28 of lactation to assess total antioxidant capacity (ABTS), thiol groups, reduced glutathione (GSH), superoxide dismutase (SOD) and catalase activities, lipid peroxidation (malondialdehyde, MDA + 4-Hydroxy-Trans-2-Nonenal, HNE), protein oxidation (carbonyl groups) (spectrophotometry) and melatonin (ELISA). Mixed random-effects linear regression models were used to study the influence of maternal and gestational ages on BM antioxidants, adjusted by days of lactation. Regression models evidenced a negative association between maternal age and BM melatonin levels (β = −7.4 ± 2.5; p-value = 0.005); and a negative association between gestational age and BM total antioxidant capacity (β = −0.008 ± 0.003; p-value = 0.006), SOD activity (β = −0.002 ± 0.001; p-value = 0.043) and protein oxidation (β = −0.22 ± 0.07; p-value = 0.001). In conclusion, BM antioxidants are adapted to gestational age providing higher levels to infants with lower degree of maturation; maternal ageing has a negative influence on melatonin, a key antioxidant hormone.


2020 ◽  
Vol 20 (2) ◽  
pp. 709-714
Author(s):  
Hasan Hüseyin Çam ◽  
Muazzez Harunoğulları ◽  
Yadigar Polat

Background: Low birth weight (LBW) is an important indicator of reproductive health and general health status of population. Objectives: The present study was aimed to estimate the prevalence of low birth weight (LBW), and to investigate the associations between some risk factors and LBW in Syrian refugee and Turkish population in Kilis, Turkey. Methods: The population of this study constituted of a total of 4379 infants born in Kilis State Hospital in 2016 using a retrospective cross-sectional study design. The data were collected from birth records. The data were analyzed using SPSS version 16.0. Binary logistic regression analysis was performed to identify predictors of low birth weight. Factors with a p-value < 0.05 were deemed to be statistically significant. Results: The prevalence of LBW was 6.7% in all groups. Significant relationships were found between young maternal age, Syrian refugee mother, female infants, cesarean delivery and LBW. Conclusion: The prevalence of low birth weight in the study area was comparatively lower than that of countrywide figure. Maternal related variables like, maternal age, mother's nationality, and mode of birth (vaginal, cesarean) take after up as well as new-born related variables like gender of the neonate were significantly related with low birth weight. Keywords: Low birth weight; maternal; risk factors,; prevalence.


1987 ◽  
Vol 36 (3) ◽  
pp. 297-312 ◽  
Author(s):  
J.O. Fellman ◽  
A.W. Eriksson

AbstractLinear regression models are used to explain the variations in the twinning rates. Data sets from different countries are analysed and maternal age, parity and marital status are the main regressors. The model building technique is also used in order to study the secular decline in the twinning rate. Linear regression technique makes it possible to compare the effect of different factors but the method requires sufficiently disaggregated data.


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.


2020 ◽  
Vol 9 (1) ◽  
pp. 153-156
Author(s):  
Deepa Dongarwar ◽  
Anjali Aggarwal ◽  
Kenneth Barning ◽  
Hamisu Mohammed Salihu

The aim of the study was to evaluate the association between fetal stillbirth and advanced maternal age in the United States (US). This was a population-based study using the Natality and Fetal Death datasets for the years 2003-2017. We built Cox proportional regression models to examine the likelihood of stillbirth among women aged ?40 years. Out of a total of 57,273,305 births, stillbirth was observed in 302,522, yielding a stillbirth rate of 5 per 1000. After adjusting for confounders, women of advanced age (?40 years) had a 40-50% greater risk of stillbirth compared to women 20-29 years of age. Keywords: • Advanced maternal age • Stillbirth • Cox proportional regression • United State   Copyright © 2020 Dongarwar et al. This is an open-access article distributed under the terms of the Creative Com - mons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Author(s):  
Emma Ford ◽  
Cerys E. Currie ◽  
Deborah M. Taylor ◽  
Muriel Erent ◽  
Adele L. Marston ◽  
...  

Aneuploidy in human embryos is surprisingly prevalent and increases drastically with maternal age, resulting in miscarriages, infertility and birth defects. Frequent errors during the meiotic divisions cause this aneuploidy, while age-independent errors during the first cleavage divisions of the embryo also contribute. However, the underlying mechanisms are poorly understood, largely because these events have never been visualised in living human embryos. Here, using cell-permeable DNA dyes, we film chromosome segregation during the first and second mitotic cleavage divisions in human embryos from women undergoing assisted reproduction following ovarian stimulation. We show that the first mitotic division takes several hours to complete and is highly variable. Timings of key mitotic events were, however, largely consistent with clinical videos of embryos that gave rise to live births. Multipolar divisions and lagging chromosomes during anaphase were frequent with no maternal age association. In contrast, the second mitosis was shorter and underwent mostly bipolar divisions with no detectable lagging chromosomes. We propose that the first mitotic division in humans is a unique and highly error-prone event, which contributes to fetal aneuploidies.


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.


Author(s):  
Anand Karale ◽  
Kunaal K. Shinde ◽  
Hemant Damle

Background: An Intrauterine Fetal Demise (IUFD) is a major obstetrical catastrophe at any gestational age but the emotional pain and distress caused by this event increases in direct relation to the duration of pregnancy. The objective of the present study was to determine the incidence and possible causes of Intrauterine Fetal Demise (IUFD), and to determine preventive measures.Methods: Retrospective observational study was done from Jan 2015 to Dec 2017 at Smt. Kashibai Navale Medical College and General Hospital, Narhe, Pune. Inclusion criteria were all the pregnant women with IUFD delivered at the centre, at or above 24 weeks of gestation. The methodology followed were parameters of assessment for analysis were maternal age, parity, probable causes for IUFD, booked or unbooked cases, mode of delivery, maternal complications, and placental histopathology. Statistical data were analyzed using SPSS version 25.Results: The incidence of IUFD at authors’ hospital was 27/1000 live births. The IUFD rate was similar in maternal age <20years and >30years (p value 0.26). The incidence of IUFD increased with decreasing gestational age which was statistically significant (p value 0.001). IUFD incidence was higher in multiparous women compared to primiparous women (p value 0.036 with OR of 1.6 and 95% CI 1.02 to 2.54). The rate of IUFD was similar when sex of the baby was analyzed. 49.4% of fetuses had signs of maceration. The major cause of IUFD was severe preeclampsia (48.1%) which included HELLP syndrome, IUGR, Abruption. Maternal anemia (20.4%), GDM (3.8%), SLE (2.5%), APLA positive (2.5%), anhydramnios (6.3%) were some of the other important causes of IUFD.Conclusions: This study was conducted to determine the incidence of IUFD and associated maternal risk factors. By understanding the contributing factors, we can seek ways of avoiding recurrence of IUFD by proper antenatal care and early diagnosis of obstetric complications and its appropriate management.


Sign in / Sign up

Export Citation Format

Share Document