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Assessment of fetal brain abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Microcephaly is defined as a head circumference that is more than two standard deviations below the normal mean for age, sex, race, and gestation. Infections such as with rubella, cytomegalovirus, varicella (chicken pox) virus, and toxoplasmosis, radiation, medications, chromosome abnormalities, and genetic diseases may cause microcephaly. Occasionally, microcephaly occurs with late onset during pregnancy (42).
Out of Nowhere
Published in Rae-Ellen W. Kavey, Allison B. Kavey, Viral Pandemics, 2020
Rae-Ellen W. Kavey, Allison B. Kavey
Then, late in the summer of 2015, doctors began to report large numbers of newborns with microcephaly in north-eastern Brazil associated with a maternal history of rash suggesting possible infection during the pregnancy.61 Microcephaly is an exceedingly rare anomaly caused by under-development of the brain; the baseline incidence is ~2–7 cases per 10,000 newborns. Microcephalic babies almost always have profoundly delayed development as well as other neurologic problems like seizures, vision abnormalities, and deafness. It has been reported after maternal exposure to teratogenic compounds and to maternal gestational infection with cytomegalovirus, rubella, herpes, or toxoplasmosis.62
Radiation Injuries to Human Fetuses
Published in Kedar N. Prasad, Handbook of RADIOBIOLOGY, 2020
For the criteria of brain abnormalities, neuroblasts are more sensitive than neuroectoderm, whereas neurons are highly radioresistant. X-irradiation of human fetuses at any time before the completion of neurogenesis induces severe CNS anomalies. Among CNS defects, microcephaly (often associated with mental retardation) is most common. This defect may not be apparent upon histological examination, regardless of the degree of neuronal loss. Some sixty-four percent of the children exposed in utero to atomic bomb radiation within 1200 m, and who appeared normal at delivery, showed microcephaly with mental retardation by 4.5 years of age. Microcephaly is particularly associated with exposure during early stages of pregnancy. It has been reported36 that when fetuses were exposed to radiation during 4–13 weeks of gestation, the incidence of microcephaly was 28%, whereas it was only 7% when irradiation was given after 13 weeks of gestation.
Comparison of Prenatal Ultrasound and Autopsy Findings of Fetuses Terminated in Second Trimester: A Five-Year Experience of a Tertiary Center
Published in Fetal and Pediatric Pathology, 2023
Ezgi Yılmazer Yonder, Murat Cagan, Ozgur Deren, Kadri Safak Gucer
In CNS pathologies, we found neural tube defects and hydrocephalus most frequently by US, while ACC was the most frequent autopsy finding. In the study conducted by Kaiser et al. in 2000, anencephaly and hydrocephalus were found most frequently, followed by neural tube defects [8]. Anencephaly was observed only in one case in our study, and prenatal diagnosis with typical US findings was compatible with the autopsy, as expected. In neural tube defect cases, US and autopsy were compatible in all but one fetus. ACC was not detected by US in 11 cases. In a study investigating CNS pathologies, four (3%) cases were reported that were not detected in US and found ACC in autopsy findings [9]. This discrepancy between prenatal US and autopsy findings may have resulted from the difficulty of detecting the presence of callosal abnormalities by US before the 18th gestational week [10]. Moutard et al. emphasized that ACC may cause symptoms such as seizure, EEG disorder, slow speech, mild cognitive deficit, and prenatal diagnosis was important in such cases [11]. The inconsistency in the findings of microcephaly and macrocephaly in 2 cases in our study did not change the clinical management and was considered a minor discrepancy. Since prenatal US may be limited to evaluating the fetal brain, fetal MRI is mostly used as a complementary tool in cases with suspected migration defects. Two cases in our series with polymicrogyria may not have been diagnosed antenatally due to the early gestational week and limitations of US.
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay
Published in Fetal and Pediatric Pathology, 2021
Fatemeh Bitarafan, Mehrnoosh Khodaeian, Navid Almadani, Alireza Kalhor, Elham Amjadi Sardehaei, Masoud Garshasbi
Microcephaly is a neurological disorder which can occur in both isolated conditions, with no other major birth defects, or in syndromic forms, in combination with other major birth defects. Microcephaly is a heterogeneous condition, derived from genetic and environmental factors, in which the improperly developed smaller brain is associated with intellectual and/or motor disorders [1]. Microcephaly, seizures, and developmental delay (MCSZ; OMIM #613402) is one of the syndromic forms of microcephaly, a rare an autosomal recessive neurodevelopmental disease which is associated with mutant variants of a bi-functional enzyme, DNA 3′-phosphatase and DNA 5′-kinase, called polynucleotide kinase 3′-phosphatase (PNKP) [2,3]. The causative gene on chromosome 19q13.33 codes a key enzyme in DNA-repair mechanisms which is particularly crucial in the nervous system [3,4]. Here we report compound heterozygote frameshift mutations in the PNKP gene in a 4-year-old girl with non-consanguineous parents, that included a novel intronic deletion, c.1298 + 33_1299-24del, and a previously reported duplication, c.1253_1269dup; p.Thr424Glyfs*49 in intron and exon 14 respectively.
COVID-19: What implications for sexual and reproductive health and rights globally?
Published in Sexual and Reproductive Health Matters, 2020
Although the consequences of COVID-19 on health and health services are uppermost in the public consciousness, epidemics can trigger and shape broader discourse. The Zika virus outbreak in 2015 provides one example. Infection with Zika virus causes pregnancy complications and specifically, congenital deformities in fetal brain development, with microcephaly. In Latin America, the epidemic sparked a debate on the need to extend abortion laws to protect women's rights to safe abortion13 and raised concerns of reproductive and social justice which continue to this day.14The Ebola virus outbreak in West Africa between 2014 and 2016 revealed that gendered norms of women as family caregivers and frontline health workers led them to be at higher risk of infection. Calls for addressing the gendered impacts of disease outbreaks should not be ignored.15 Other positive or negative impacts may ensue from the current pandemic. Could the face-to-face social isolation rendered necessary for infection control result in increased violence in the home? Are such measures even possible to implement in crowded urban slums, or where people simply cannot survive without a daily income from formal or informal work? Will social imbalances of race, ethnicity, gender and wealth be accentuated by the economic pressures from COVID-19? Could lockdown of countries lead to increased insularity of societies which begin to revert to xenophobic and prejudicial views? Lost income, poverty, powerlessness, intolerance – these are all factors well known as determinants and influencing factors on sexual and reproductive health and rights.16