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Introduction to Drugs and Pregnancy
Published in “Bert” Bertis Britt Little, Drugs and Pregnancy, 2022
Alcohol use and/or taking drugs of abuse, and other preventable causes of birth defects are likely under-ascertained. Congenital anomalies and other pregnancy complications caused by medication and chemical exposure are unique because these birth defects are potentially preventable. Key factors in evaluation and prevention of morbidity and mortality due to drug and chemical exposure during pregnancy include knowledge of prenatal exposure effects and the window of opportunity for intervention. Chapters 2–16 summarize information available regarding drug exposure during pregnancy. Drug-specific information obtained from the current medical literature, clinical experience, and science are reviewed for their potential to cause birth defects.
Gap Discovery and Analysis
Published in Robin Stevenson, Learning and Behaviour in Medicine, 2022
An important PPG in this category relates to the damage to quality of life because of too active care of patients at the end-of-life or suffering from dementia. Similar questions are asked about active treatment for babies with gross birth defects. In these cases, the cause of the gap is cultural rather than educational deficit. In a previous, less secular age, active treatment in such patients was discouraged and doctors believed that “pneumonia was the old man’s friend”. Now demented patients with pneumonia are admitted to hospitals from care homes and treated with intravenous antibiotics.
The Genetic Risk of a Couple Aiming to Conceive
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Joe Leigh Simpson, Svetlana Rechitsky, Anver Kuliev
Genetic screening for common complex conditions is increasingly being explored. Disorders of interest include not only structural birth defects involving a single organ system (e.g., cleft palate, hip dysplasia, cardiac anomaly). Recurrence risks in first-degree relatives are 2–5%. In certain adult-onset disorders (e.g., hypertension, diabetes mellitus), there is a 10–15% recurrence risk. These conditions are considered to be the result of the cumulative effect of many adverse genes. The odds ratio for risk of an individual anomaly has been based on presence or absence of at-risk alleles.
Alcohol and tobacco use among preconception women in India
Published in Journal of Substance Use, 2023
Rajeshwari A. Biradar, Shiva S. Halli
Alcohol and tobacco use in pregnant women have been linked to adverse health outcomes for mother and baby during pregnancy (Azuma & Chasnoff, 1993; Handler et al., 1991; Patel et al., 2002). Alcohol and tobacco use has also been identified as a means for pregnant women to “cope with daily life” in an adverse environment where poverty and other social hazards exist (Gorski, 2008; Patel et al., 2002). Alcohol exposure during pregnancy has been identified as one of the main avoidable causes of birth defects and developmental disorders in offspring (Smith et al., 2015). A frequent form of alcohol and tobacco use has also been identified as associated with low weight gain during pregnancy (Davis, et al., 2011), diminished fetal growth (Harrison & Sidebottom, 2009) and premature deliveries (Smith et al., 2015). The Center for Disease Control and Prevention (CDC) reports that three out of four women consume alcoholic beverages while trying to get pregnant (Centers for Disease Control and Prevention, 2016).
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia
Published in Ophthalmic Epidemiology, 2021
Jeremy M. Schraw, Renata H. Benjamin, Daryl A. Scott, Brian P. Brooks, Robert B. Hufnagel, Scott D. McLean, Hope Northrup, Peter H. Langlois, Mark A. Canfield, Angela E. Scheuerle, Christian P. Schaaf, Joseph W. Ray, Han Chen, Michael D. Swartz, Laura E. Mitchell, A.J. Agopian, Philip J. Lupo
The present study has several strengths. We utilized data from the TBDR, one of the world’s largest active surveillance birth defect registries, which includes all structural and chromosomal birth defects diagnosed in pregnancies >20 weeks gestation in the state of Texas, USA regardless of outcome. This approach minimizes ascertainment bias and should result in more reliable prevalence estimates. We computed the O:Eadj ratio to identify co-occurring birth defect combinations.12 This method accounts for differences in the prevalence of the evaluated birth defects and the proportion of individuals with co-occurring birth defects in the population. Certain limitations are also evident. To facilitate analysis and reporting, we evaluated anophthalmia and microphthalmia collectively, which could obscure patterns that are specific to one or the other. However, this approach is justified given that anophthalmia and microphthalmia likely share common developmental origins and is consistent with prior epidemiologic literature. In support of this, results were similar when each phenotype was evaluated individually in sensitivity analyses. An additional limitation is that other phenotypic information that could be leveraged for identifying novel syndromes (e.g., developmental delay, family history) is typically not available from birth defect registries. This highlights the value in comprehensively evaluating cases in the clinic.
Association of Fetal MTHFR 677C > T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis
Published in Fetal and Pediatric Pathology, 2021
Abdolhamid Amooee, Seyed Alireza Dastgheib, Seyed Mohammadreza Niktabar, Mahmood Noorishadkam, Mohamad Hosein Lookzadeh, Seyed Reza Mirjalili, Naeimeh Heiranizadeh, Hossein Neamatzadeh
Craniofacial anomalies, particularly cleft lip/palate (CL/P), are among the most common birth defects. They affect approximately 1 in 700 births, a frequency which may differ according to the geographical region and socio-economic level. NSCL ± P is a complex disorder that does not have clear Mendelian patterns of inheritance [1,2]. However, a high frequency of familial clustering and higher concordance rates in monozygotic twin implicate genetic factors in NSCL ± P development. Genetic mutations have been estimated to cause approximately 20% of all NSCL ± P cases [3,4]. In the last decade, exhaustive efforts have been devoted to unraveling the genetic underpinning of NSCL ± P, and hundreds of loci and variants have been hypothesized to be involved in the pathogenesis of the disease. Among them, genetic variations in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and methionine synthase reductase (MTRR) genes have been assessed as potential risk factor in development of congenital malformations [5,6].