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Substance Abuse during Pregnancy
Published in “Bert” Bertis Britt Little, Drugs and Pregnancy, 2022
Use or abuse of alcohol abuse during pregnancy negatively affects the course of pregnancy with higher frequencies of adverse pregnancy outcomes including stillbirths, premature deliveries, decreased placental weight, and spontaneous abortion (Parazzini et al., 1994). Low levels of alcohol consumption (< four drinks per day) are associated with adverse pregnancy outcomes (Little, 1977; Plant, 1984; Sokol et al., 1980; Streissguth et al., 1981). “Binge” drinking during pregnancy is associated with an increased frequency of congenital anomalies and physical and intellectual development abnormalities. Studies of alcohol use of varying durations in pregnancy found that occasional binge drinking by moderate drinkers did not negatively affect birth outcome (Autti-Ramo et al., 1992; Tolo and Little, 1993). However, exposure to alcohol throughout gestation was associated with an increased rate of alcohol-related birth defects and developmental abnormalities (Autti-Ramo and Granstrom, 1991; Coles et al., 1991). Continued alcohol drinking throughout pregnancy showed a dose-response of ethanol on the embryofetus (Halmesmaki, 1988). Sexually transmitted diseases and other infections occur at a higher frequency among women who abuse alcohol during pregnancy, compared to women who did not drink during pregnancy.
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
Morphological or developmental abnormalities may result from teratogenic factors (prescription drugs, chemotherapeutic agents, radiation) interfering with development of an embryo/fetus that otherwise would have been normal. Although the subject of considerable media attention and parental concern, there are actually few proven teratogens. Standard obstetrics and pediatric texts list teratogenic drugs, pathogenic viruses, and environmental toxicants, the latter of which are often poorly defined. The most commonly encountered detrimental environmental toxicants are mercury, heavy metals, phthalates, and pesticides. Environmental exposure levels of these compounds usually do not rise to the level of clinical concern, but this might not be so if exposure were under occupational circumstances. Alteration in job assignments during pregnancy may be necessary.
Assessment of fetal genetic disorders
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Teresa Martino, J. Pratt Rossiter, Karin J. Blakemore
As the resolution and therefore the sensitivity of ultrasonography improve, an increasing number of referrals for prenatal diagnosis are generated because of sonographic fetal abnormalities. Some of the more frequent findings include fetal heart defects, ventral wall defects, central nervous system abnormalities, gastrointestinal anomalies, renal anomalies, choroid plexus cysts, and nuchal fold thickening. These may be found in isolation, in conjunction with chromosomal abnormalities or as part of a genetic syndrome. As technical skills in ultrasonography as well as the resolution of the images improve, fetal abnormalities will be more frequently identified. As a result, our understanding of developmental abnormalities and what may represent normal variation will expand and thereby modify the genetic counseling engendered and what is offered in terms of prenatal diagnosis.
Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review
Published in Neuro-Ophthalmology, 2023
Igor Kozak, Syed M. Ali, Nicholas Hoque, Doris Lin, Thomas M. Bosley
The same group subsequently reported the same syndrome in three additional families from Turkey, Afghanistan, and Morocco caused by three new homozygous mutations in JAM3 in exon 6, exon 4, and in the initiator codon.2 This study confirmed generally low birth weight, normal to increased head circumference, sloping forehead, bulging anterior fontanelle, evidence of acute or chronic intraparenchymal haemorrhages, subependymal calcifications, and congenital cataracts. A number of children had developmental abnormalities of the liver and/or kidneys as well. Neuroimaging revealed multiple intraparenchymal haemorrhages involving predominantly white matter and basal ganglia with subsequent encephalomalacia and porencephaly. Affected individuals generally had a catastrophic early neurological clinical course resulting in death in infancy, although some individuals had a milder clinical course and survived longer with rehabilitation.
The effects of prenatal and lactational bisphenol A and/or di(2-ethylhexyl) phthalate exposure on female reproductive system
Published in Toxicology Mechanisms and Methods, 2022
Gizem Ozkemahli, Aylin Balci Ozyurt, Pinar Erkekoglu, Naciye Dilara Zeybek, Nilgun Yersal, Belma Kocer-Gumusel
Phthalates and bisphenols are the most abundant EDCs in the environment. There are several exposure routes to these chemicals. However, oral exposure or exposure through different medical procedures are of major concern. According to the European Commission Scientific Committee on Health and Environmental Risks (SCHER), DEHP exposure may exceed the tolerable daily intake (TDI) in people exposed through medical procedures such as kidney dialysis. The exposure in NICU may increase the risk of developmental abnormalities in premature babies, newborns and neonates. On the other hand, lactating and pregnant women who need medical interventions poses a great risk as she can pass these chemicals directly to her baby (Shelby 2006). The use of DEHP-containing medical devices is not suggested by The American Academy of Pediatrics. The academy advocates for the use of DEHP-free medical devices (Shea and Committee on Environmental Health 2003).
Evaluation of developmental toxicity and genotoxicity of aqueous seed extract of Croton tiglium L. using zebrafish
Published in Drug and Chemical Toxicology, 2022
Thangal Yumnamcha, Maibam Damayanti Devi, Debasish Roy, Upendra Nongthomba
AECT exposed to zebrafish at different concentrations showed lethality and abnormalities, compared with the control (Figure 1). The mortality rate of the zebrafish embryos, upon treatment with different concentrations of AECT (125, 150, 175, 200, 225, and 250 µg/mL), was increased significantly, as compared with the control group, p < 0.0001 (Figure 2). The LC50 of the AECT to 4 dpf zebrafish embryo was found to be 162.78 µg/ml. The developmental abnormalities, like PE, YSE, and SC, were also significantly greater in the zebrafish embryos exposed to different concentrations of AECT, as compared with the control group (Figure 3). Interestingly, the severity of the developmental abnormalities varied in a dose-dependent manner. Moreover, the hatching rate was significantly delayed, again in dose-dependent manner, in the treated embryos, as compared with the control ones, p < 0.0001 (Figure 3).