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Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
There are three viable autosomal trisomies associated with recognized syndromes: trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Embryos reported to have trisomy 21 have an increased risk of miscarriage. When detected prenatally, pregnancies with trisomy 21 have only about a 24% chance of developing to term. Individuals with Down syndrome have varying degrees of cognitive impairment and birth defects, including characteristically dysmorphic facial features and heart defects. Down syndrome affects approximately 1 in 800 individuals in the general population.
Newborn and infant physical examination (NIPE)
Published in Alison Edwards, Postnatal and Neonatal Midwifery Skills, 2020
Risk factors include the following:Family history of CHD in first-degree relative.Fetal trisomy 21 or other trisomy diagnosed.Cardiac abnormality suspected from the antenatal scan.Maternal exposure to viruses, such as rubella during early pregnancy.Maternal conditions, such as diabetes (type 1), epilepsy, systemic lupus erythematosis (SLE).Drug-related teratogens during pregnancy, including antiepileptic and psychotrophic drugs.
Radiation Hormesis in Reproduction
Published in T. D. Luckey, Radiation Hormesis, 2020
The chromosomal abnormality of Down’s syndrome is sometimes associated with low doses of ionizing radiation. A direct connection with ionizing radiation would present a complicated and most unusual chromosomal activity since 95% of the cases are due to trisomy of chromosome 21. Trisomy is the presence of three members of a chromosome which would normally occur in pairs. Trisomy usually occurs in older mothers’ young. No excess abnormalities or Down’s syndrome have been found following the Chernobyl contaminated air in Austria.4 Questionable evaluation of controls and the inadequacy of statistics involving such low numbers make these observations dubious.58 The extensive data from Japanese bomb survivors show no statistically significant increase in chromosomal aberrations.435 The incidence of Down’s syndrome and other viable malformations showed no correlation with background radiation in Japan from 1978 to 1981.931 These results suggest that background radiation is not a predominant factor in congenital abnormalities.
Non-Invasive Prenatal Testing for “Non-Medical” Traits: Ensuring Consistency in Ethical Decision-Making
Published in The American Journal of Bioethics, 2023
Hilary Bowman-Smart, Christopher Gyngell, Cara Mand, David J. Amor, Martin B. Delatycki, Julian Savulescu
However, prenatal screening programs have different goals to other kinds of population screening programs (de Jong et al. 2011). The goal of population screening programs is frequently to reduce the incidence, morbidity or mortality of a disease within a given population (World Health Organization 2020). However, the stated goal of prenatal screening for trisomy 21, for example, is not to “prevent” the genetic condition or treat it in existing individuals of a population. Instead, by facilitating “informed choice” (World Health Organization 2020) it determines which individuals come into existence. Although in utero therapies may become an option in the future, the current goal of prenatal screening is generally to “improve outcomes” for women and families (Dukhovny and Norton 2018). Alberry et al. (2021, 427) state that “NIPT’s ultimate aim should be facilitating prenatal decisions surrounding autosomal aneuploidies.” Prenatal screening can allow parents to use information to make decisions, such as making informed reproductive choices (although in Germany, the justification for public funding of NIPT is specifically restricted solely to reducing rates of invasive testing (Rehmann-Sutter and Schües 2020)). The aim of prenatal screening is subject to some debate; de Jong and de Wert (2015) discuss the view that population prenatal screening programs are really about reducing the incidence of disability, and argue that such programs are only morally justified if the aim is to provide options for meaningful reproductive choices.
Transient abnormal myelopoiesis in Down syndrome: Experience of long term follow up from a single tertiary center in Thailand
Published in Pediatric Hematology and Oncology, 2023
Thirachit Chotsampancharoen, Shevachut Chavananon, Pornpun Sripornsawan, Natsaruth Songthawee, Edward B. McNeil
Four patients (12.5%) died before TAM resolution, 3 from infection and 1 from severe hydrops fetalis as indicated by marked hepatosplenomegaly, pericardial and pleural effusion and marked skin edema. The mean age at death of these 4 patients was 32 days (range: 6-55 days) and all had constitutional trisomy 21. The overall survival rate was 87.5%. The remaining 28 patients (87.5%) had achieved peripheral blast clearance, normalized blood count (no peripheral blood blasts, normal white blood cells) at a mean of 89 days (range: 13-204 days). Twenty-six of 32 (81.2%) had abnormal liver function and 4/26 had acute liver failure, of whom 23/26 achieved normalized liver function within a mean (SD) of 67 (52) days, the other 3/26 patients died before resolution of transaminitis. TLS occurred in 6 of 32 (18.8%) patients. Eleven (1.1%) of the 965 non-TAM DS patients died in the early neonatal period, with the causes of death being hydrops fetalis (n = 2), severe congenital cardiac disease (n = 4), severe sepsis (n = 3), and persistent pulmonary hypertension (n = 2).
Noninvasive prenatal screening in southeast China: clinical application and accuracy evaluation
Published in Expert Review of Molecular Diagnostics, 2022
Li Wen, Jiye Gao, Leilei Huang, Dongmei Li, Guansheng Zhong
Further diagnostic confirmation showed that common trisomy was found in 213 (72.0%) cases (T21: 170; T18: 37; T13: 6), including three cases of mosaic T21 and four cases of robertsonian translocation [46,XN,der(14;21)(q10;q10), +21]. The PPV for T21, T18, and T13 were 83.7%, 72.5%, and 14.3%, respectively. Table 2 presents the diagnostic results of amniocentesis based on different kinds of detecting methods. After professional genetic consultation, all of the pregnant women with common trisomy selected to terminate the pregnancy. Among which, there were two cases (one in T21 and one in T13) having fetus born, due to their rejection of amniocentesis, and confirmed after childbirth in final. Three cases of mosaic T21 with mosaicism level of 20%, 41%, and 58% had the same choice as cases with full T21 fetus. On the other hand, pregnancies with normal karyotype were believed to deliver without abnormalities, excepting for some loss of follow-up. The prenatal decision and follow-up results are summarized in Table 3. Furthermore, 12 cases with incidental findings were recognized by karyotyping and CMA detection technologies, while firstly defined as NIPS-positive in T21/T18/T13 (Table 4). Of these, 25% involved the same chromosomes screened by NIPS with abnormal Z-score (ranging from 4.907 to 17.334), and 75% referred to variations in other chromosomes.