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Substance Abuse during Pregnancy
Published in “Bert” Bertis Britt Little, Drugs and Pregnancy, 2022
Substance use during pregnancy has not been studied as extensively as it should be to assess fully the risks to the embryo/fetus and to the mother. The available information is often confounded by many factors, including poor maternal health, lack of prenatal care, malnutrition, presence of infectious diseases, and the use of a myriad of substances. It is rare that a gravid substance user takes only one substance. The sections that follow are a summary of the known maternal-fetal effects of the 16 social and illicit substances most commonly used during pregnancy. This chapter concludes with a section that summarizes the complex issues that attend polydrug use during pregnancy. Each substance is described, highlights of human embryo-fetal risks are reviewed, and perinatal effects are defined. A summary of the embryo-fetal effects is given in Table 16.1 and a summary of the maternal effects in Table 16.2. Details underlying Tables 16.1 and 16.2 are discussed in the sections that follow.
Antepartum Haemorrhage
Published in Sanjeewa Padumadasa, Malik Goonewardene, Obstetric Emergencies, 2021
Placental abruption is defined as the partial or complete separation of a normally situated placenta before the delivery of the fetus. Although the incidence of placental abruption has decreased over the years to approximately 1 in 100 pregnancies at the present time, it continues to be a major contributor to maternal mortality, severe acute maternal morbidity and perinatal mortality and morbidity. The maternal effects depend primarily on its severity, while the fetal outcome depends on its acuteness as well as the gestational age when it occurs.
Drugs in pregnancy and lactation
Published in Evelyne Jacqz-Aigrain, Imti Choonara, Paediatric Clinical Pharmacology, 2021
Evelyne Jacqz-Aigrain, Imti Choonara
Among the key points, embryo-fetal effects rather than maternal effects are to be considered as the primary endpoint. If embryo-fetal effects occur with maternal toxicity, the dam influence should be clearly assessed, and might be used to provide a safety margin for the tested drug. Determination of the lowest developmental toxic dose, apart from any maternal toxicity, should be performed when possible, as maternal toxicity is not always the cause of harmful fetal effects.
Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants
Published in Fetal and Pediatric Pathology, 2022
Rong-Yue Wang, Yu-Juan Li, Li Zhen, Fan Jiang, Cong-Min Gu, Dong-Zhi Li
So far, three maternal-effect genes, NLRP7, KHDC3L and recently PADI6, have been identified to be responsible for RHM [10–12]. Studies from various groups and populations concur that NLRP7 is a major gene for this condition and is mutated in 48–80% of patients with at least two HM pregnancies [11,13]. This form of RHM is inherited in an autosomal recessive fashion, indicating that patients usually carry two defective alleles. The underlying mechanisms for maternal-effect NLRP7 for correct imprint establishment during human oogenesis are unknown. Possibly, NLRP7 has a role in controlling the timing of oocyte growth, or in transducing signals required to initiate imprint establishment [14]. Interestingly, a male with NLRP7 compound heterozygous mutations in the present family has been found to have no reproductive problems, suggesting that NLRP7 is not required for normal spermatogenesis. Currently, there is no evidence that the risk of gestational trophoblastic disease in biparental moles is increased.
New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden
Published in Amyloid, 2021
Farida Gorram, Malin Olsson, Flora Alarcon, Gregory Nuel, Intissar Anan, Violaine Planté-Bordeneuve
Thirdly, we confirmed the POO effect on penetrance with a higher disease risk in case of maternal transmission as observed previously [11]. This result is reinforced by the larger anticipation found in maternally inherited cases since anticipation matches with a higher penetrance in younger generations. A similar POO effect was described in the Portuguese ATTRV30M families [25] in concordance with the work of Lemos et al. showing the role of maternal inheritance on the degree of anticipation in parent-offspring pairs [20]. The mechanism underlying such maternal effect on the disease expression has been somewhat investigated. A previous study found differences in mitochondrial haplogroup distribution in early and late onset Swedish and French cases of ATTRV30M amyloidosis [26]. In addition, a modelling approach suggested that a mitochondrial DNA (mtDNA) polymorphism may explain the observed difference of penetrance in case of maternal transmission in a Portuguese ATTRv amyloidosis sample [27]. More recently, Santos et al. described an association between the mitochondrial DNA (mtDNA) copy number from blood leucocytes and an early AO in Portuguese ATTRV30M. A significant increase in the mtDNA copy number was found in early onset offspring compared to their late onset parents, compatible with a maternally transmitted mitochondrial risk effect modulating AO [28]. In our study, the higher penetrance and anticipation observed in the case of maternal transmission should lead to further investigation into the role of mtDNA in the ATTRV30M Swedish families.
Epigenetics, nutrition and mental health. Is there a relationship?
Published in Nutritional Neuroscience, 2018
Aaron J. Stevens, Julia J. Rucklidge, Martin A. Kennedy
Most studies focus on maternal effects that can modify epigenetic profiles during gestation. However, paternal exposure to environmental factors including food and smoking has been associated with increased risk of cardiovascular disease, diabetes, and increased body mass index (BMI) in the offspring.101–103 Similarly, timing of paternal exposure to the environmental perturbation appears to be a key factor in determining epigenetic response.101,102 The slow growth period is the period prior to puberty, where the body is still undergoing large developmental change, and the epigenome is particularly susceptible to environmental modification during this period. For example, transgenerational effects of increased BMI in relation to smoking were correlated with exposure during the slow growth period of both grandparents, or during gestation of the grandmothers, but not during either grandparent’s puberty.101