Polymorphisms of haemostasis genes as risk factors for preterm delivery

2005 ◽  
Vol 94 (07) ◽  
pp. 88-92 ◽  
Author(s):  
Christoph Härtel ◽  
Sören von Otte ◽  
Julia Koch ◽  
Peter Ahrens ◽  
Evelyn Kattner ◽  
...  
Keyword(s):  
Risk Factors ◽  
Birth Weight ◽  
Preterm Birth ◽  
Low Birth Weight ◽  
Preterm Delivery ◽  
Factor Xiii ◽  
Very Low Birth Weight ◽  
Factor V Leiden ◽  
Factor Vii ◽  
Factor V

SummaryClinical trials evaluating the potential benefit of anticoagulant treatment in pregnant women with inherited thrombophilia are based on the observation that a genetic predisposition to thrombosis is associated with frequent abortions and preterm birth. It was the aim of our study to delineate the impact of genetic polymorphisms with prothrombotic and antithrombotic effects on the occurrence of preterm birth in a large cohort of very-low-birth-weight (VLBW)-infants and their mothers. We examined the factor V Leiden and the prothrombin G20210A mutation, the factor VII 121del/ins and the factor XIII Val34Leu polymorphism in preterm very-low-birth-weight (VLBW, n=593) and term-born-infants (n=278) and their mothers (n=785).The primary outcome was preterm vs. term birth. From all polymorphisms tested, the maternal factor VII-121del/ins polymorphism (26.2 vs. 17.6 %; p=0.009) and the infant’s factor VII-121del/ins polymorphism (29.0 vs. 20.0 %; p=0.009) were more frequent in singletonVLBW and their mothers compared to term infants and their mothers. Furthermore, the frequency of the factor XIII-Val34Leu polymorphism was significantly lower in singleton VLBW than in term infant controls (5.1 vs. 9.6%, p=0.025). In a multivariate regression analysis, previous preterm delivery (OR=3.8, 95% CI: 1.7–8.4), the maternal carrier status of the factor-VII-121del/ins polymorphism (OR=1.7, 95% CI: 1.12–2.5, p=0.007) and the lower frequency of infant’s factor-XIII-Val34Leu polymorphism (OR=0.53; 95% CI: 0.29–0.96; p=0.038) were found to be independently associated with preterm delivery. InVLBW mothers with pathological CTG as cause of preterm delivery, the frequency of factor V Leiden mutation was significantly increased compared to VLBW mothers without pathological CTG (14.1 vs. 6.1%, p=0.01).The investigated haemostasis gene polymorphisms have a much lower impact on subsequent preterm delivery than known risk factors such as previous preterm birth. The reported association of the factor-VII-121del/ins polymorphism on preterm delivery and its clinical relevance needs to be further elucidated.

Polymorphisms of clotting factors modify the risk for primary intracranial hemorrhage

Blood ◽  
2001 ◽  
Vol 97 (10) ◽  
pp. 2979-2982 ◽  
Author(s):  
Javier Corral ◽  
Juan Antonio Iniesta ◽  
Rocio González-Conejero ◽  
Marino Villalón ◽  
Vicente Vicente
Keyword(s):  
Risk Factors ◽  
Intracranial Hemorrhage ◽  
Factor Xiii ◽  
Factor V Leiden ◽  
Factor Vii ◽  
Factor V ◽  
Clotting Factors ◽  
Factors Affecting ◽  
Spontaneous Intracranial Hemorrhage ◽  
Prothrombin 20210A

Abstract Intracranial hemorrhage is the third most frequent cause of cerebrovascular disease, but few genetic risk factors have been associated with its development. Recently, it has been reported that some polymorphisms that affect clotting factors increase the risk for thrombosis. However, reports have analyzed the effect of polymorphisms influencing the hemostatic state in bleeding disorders insufficiently. A case-control study was conducted of 201 patients with spontaneous intracranial hemorrhage and 201 control subjects matched for age, race, sex, and selected risk factors (hypertension, smoking, and alcohol consumption). Genomic polymerase chain reaction was used to analyze the prevalence of 4 polymorphisms: factor V Leiden, prothrombin 20210A, factor VII−323 Del/Ins of a decanucleotide, and factor XIII V34L. Subjects with factor V Leiden had decreased risk for spontaneous intracranial hemorrhage (odds ratio, 0.19; 95% confidence interval, 0.03-0.95). The frequency of the prothrombin 20210A/G genotype was also lower among patients than controls (1.5% vs 3%, respectively). Moreover, carriers of the −323 Ins allele of factor VII had a 1.54-fold risk for intracranial hemorrhage (95% CI, 1.03-2.72). Finally, no significant differences were observed in the prevalence of factor XIII V34L polymorphism between patients and controls. Therefore, new genetic factors affecting the risk for spontaneous intracranial hemorrhage were identified. These data, together with the relevance of these polymorphisms in thrombotic diseases, support the idea that a polymorphism may play opposite roles in thrombosis and hemorrhage, suggesting an explanation for the high frequency of these polymorphisms in the general population.

scholarly journals Pregnancy Outcome during the First COVID 19 Lockdown in Vienna, Austria

2021 ◽  
Vol 18 (7) ◽  
pp. 3782
Author(s):  
Sylvia Kirchengast ◽  
Beda Hartmann
Keyword(s):  
Birth Weight ◽  
Preterm Birth ◽  
Low Birth Weight ◽  
Pregnancy Outcome ◽  
Gestational Age ◽  
Very Low Birth Weight ◽  
Extremely Low Birth Weight ◽  
Negative Effects ◽  
Gestational Length ◽  
Live Births

The COVID 19 pandemic represents a major stress factor for non-infected pregnant women. Although maternal stress during pregnancy increases the risk of preterm birth and intrauterine growth restriction, an increasing number of studies yielded no negative effects of COVID 19 lockdowns on pregnancy outcome. The present study focused on pregnancy outcome during the first COVID 19 lockdown phase in Austria. In particular, it was hypothesized that the national lockdown had no negative effects on birth weight, low birth weight rate and preterm birth rate. In a retrospective medical record-based single center study, the outcome of 669 singleton live births in Vienna Austria during the lockdown phase between March and July 2020 was compared with the pregnancy outcome of 277 live births at the same hospital during the pre-lockdown months of January and February 2020 and, in addition, with the outcome of 28,807 live births between 2005 and 2019. The rate of very low gestational age was significantly lower during the lockdown phase than during the pre-lockdown phase. The rate of low gestational age, however, was slightly higher during the lockdown phase. Mean birth weight was significantly higher during the lockdown phase; the rates of low birth weight, very low birth weight and extremely low birth weight were significantly lower during the lockdown phase. In contrast, maternal gestational weight gain was significantly higher during the lockdown phase. The stressful lockdown phase in Austria seems to have no negative affect on gestational length and newborn weight among non-infected mothers.

scholarly journals Persistent candidemia in very low birth weight neonates: risk factors and clinical significance

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Jinjian Fu ◽  
Yanling Ding ◽  
Yongjiang Jiang ◽  
Shengfu Mo ◽  
Shaolin Xu ◽  
...  
Keyword(s):  
Risk Factors ◽  
Birth Weight ◽  
Low Birth Weight ◽  
Clinical Significance ◽  
Very Low Birth Weight ◽  
Persistent Candidemia

scholarly journals Clinical profile and factors determining outcome of intramural very low birth weight babies in a tertiary care centre: a retrospective study

2017 ◽  
Vol 5 (2) ◽  
pp. 520
Author(s):  
Devi Meenakshi K. ◽  
Arasar Seeralar A. T. ◽  
Srinivasan Padmanaban
Keyword(s):  
Risk Factors ◽  
Logistic Regression ◽  
Regression Analysis ◽  
Birth Weight ◽  
Low Birth Weight ◽  
Logistic Regression Analysis ◽  
Very Low Birth Weight ◽  
Tertiary Care ◽  
P Value ◽  
Increased Risk

Background: Very low birth weight (VLBW) babies are at increased risk of a number of complications both immediate and late. Worldwide it has been observed that these babies contribute to a significant extent to neonatal mortality and morbidity. Aim of the study was to study the risk factors contributing to mortality in VLBW babies and to evaluate the morbidity pattern in these infants.Methods: A retrospective analysis of data retrieved from the case records of VLBW babies admitted in the NICU of Kilpauk Medical College between January 2015 to December 2015. Out of the 2360 intramural babies admitted during the study period, 99 babies were less than 1500 gms. The risk factors for these babies were analyzed for their association with the outcome. Data were statistically analyzed.Results: In present study, we found that sex of the baby, gestational age, obstetric score, birth asphyxia, pulmonary haemorrhage, ROP and presence of shock were found to be associated with increased mortality. By logistic regression analysis it was observed that birth weight of the baby (p value 0.002), duration of stay (p value 0.0006), presence of shock (p<0.0001), were the risk factors significantly associated with poor outcome.Conclusions: Among the maternal and neonatal factors analyzed in the study using logistic regression analysis, birth weight, duration of hospital stay and presence of shock were significantly related to poor outcome. Of these presence of shock was the single most important factor that predicted increased mortality.

scholarly journals Clinical profile and outcome of early onset sepsis in high risk very low birth weight neonates

2018 ◽  
Vol 5 (2) ◽  
pp. 389 ◽  
Author(s):  
Omprakash S. Shukla ◽  
Aditi Rawat
Keyword(s):  
Risk Factors ◽  
Birth Weight ◽  
Blood Culture ◽  
Low Birth Weight ◽  
Neonatal Sepsis ◽  
Early Onset ◽  
Very Low Birth Weight ◽  
Gram Negative ◽  
Early Onset Sepsis ◽  
Culture Positive

Background: Neonatal sepsis is one of the main causes of mortality and morbidity, especially in very low birth weight neonates (birth weight <1499 grams) despite the progress in hygiene, introduction of new and potent antimicrobial agents for treatment and advanced measures for diagnosis. The aim of the study was to find correlation of clinical features and risk factors of neonatal sepsis in culture positive cases.Methods: A cross- sectional study was carried out in one hundred neonates with risk factors of septicemia after obtaining informed consent. Blood culture was done using Bactec Peds Plus/F Culture as a gold standard to diagnose septicaemia. Correlation of  risk factors, clinical features with laboratory findings was obtained by using chi-square test. p-value of less than 0.05 was considered as significant.Results: Out of 100 neonates with suspected sepsis, BACTEC culture proven sepsis was seen in 40% cases. Gram negative sepsis was seen in 62.5% cases. The most common bacteria for early onset sepsis were Klebsiella, Pseudomonas and MRSA contributing 17% each to the bacteriological profile. The most common predisposing factor and clinical feature in culture positive cases were Premature rupture of membrane >24 hours (67%) and bleeding/petechia/pupura (72%) respectively. The major cause of mortality was pulmonary hemorrhage.Conclusions: Gram negative organism were more common and associated with higher mortality. Blood culture positivity increases with increase in number of risk factors in neonatal septicemia. A detailed history and thorough clinical examination is vital for early recognition of sepsis. 

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