Genetic Disorders and the Fetus. Группа авторов

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Moreover, decisions made before counseling largely determined reproduction after counseling.

      The limited efficacy of genetic counseling revealed in the study by Sorenson et al.1049 reflects the consequences of multiple factors, not the least of which were a poor lay understanding of science.1036 Efficacy, of course, is not solely related to counselee satisfaction. Efforts to educate the public about the importance of genetics in their personal lives have been made by one of us in a series of books (one translated into nine languages) over 50 years.184, 331, 335, 337, 338, 1053 In addition to public education and its concomitant effect of educating physicians generally, formal specialist certification in the United States, Canada, the United Kingdom, and elsewhere, acceptance of clinical genetics as a specialty, and degree programs for genetic counselors certified by the National Board of Genetic Counselors, has undoubtedly improved the efficacy of genetic counseling. There remains, however, a pressing need to better educate practicing physicians about the “new genetics”184, 185, 199, 1054, 1055 in this, the golden era of human genetics.

      1 1. Ferreira CR. The burden of rare diseases. Am J Med Genet A 2019; 179A:885.

      2 2. Online Mendelian Inheritance in Man, OMIM®. McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), 2008. https://www.researchgate.net/publication/23307013_McKusick%27s_online (accessed September 18, 2020).

      3 3. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 2020; 28:165.

      4 4. Bick D, Jones M, Taylor SL, et al. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet 2019; 56:783.

      5 5. Bhide P, Kar A. A national estimate of the birth prevalence of congenital anomalies in India: systematic review and meta‐analysis. BMC Pediatrics 2018; 18:175.

      6 6. Chaabane S, Bérard A. Epidemiology of major congenital malformations with specific focus on teratogens. Curr Drug Saf 2013; 8:128.

      7 7. Straub L, Huybrechts KF, Bateman BT, et al. The impact of technology on the diagnosis of congenital malformations. Am J Epidemiol 2019; 188:1892.

      8 8. Ropers H. Genetics of early onset cognitive impairment. Hum Genet 2010; 11:161.

      9 9. Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. N Engl J Med 2012; 366:733.

      10 10. Coffman KA, Borgatti R. Finding a common path to the assessment of persons with intellectual development disorders. Neurology 2020; 94:507.

      11 11. Kvarnung M, Nordgen A. Intellectual disability and rare disorders: a diagnostic challenge. Adv Exp Med Biol 2017; 1031:39.

      12 12. European Organisation for Rare Disease (EURORDIS). What is a rare disease? http://www.eurordis.org

      13 13. Murphy SL, Mathews TJ, Martin JA, et al. Annual summary of vital statistics: 2013–2014. Pediatrics 2017; 139:e20163239.

      14 14. Martin RH, Ko E, Rademaker A. Distribution of aneuploidy in human gametes: comparison between human sperm and oocytes. Am J Med Genet 1991; 39:321.

      15 15. Fragouli E, Alfarawati S, Goodall NN, et al. The cytogenetics of polar bodies: insights into female meiosis and the diagnosis of aneuploidy. Mol Hum Reprod 2011; 17:286.

      16 16. Pellestor F, Andreo B, Arnal F, et al. Maternal aging and chromosomal abnormalities: New data drawn from in vitro unfertilized human oocytes. Hum Genet 2003; 112:195.

      17 17. Fragouli E, Escalona A. Gutierrez‐Mateo C., et al. Comparative genomic hybridization of oocytes and first polar bodies from young donors. Hum Genet Reprod Biomed Online 2009; 19:228.

      18 18. Fragouli E, Katz‐Jaffe M, Alfarawati S, et al. Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril 2010; 94:875.

      19 19. Hassold T, Hall H, Hunt P. The origin of human aneuploidy: Where we have been, where we are going? Hum Mol Genet 2007; 16:R203.

      20 20. Martin RH, Ko E, Barclay L. Human sperm karyotypes. In: Verma RS, Babu A, eds. Human chromosomes: manual of basic techniques. New York: McGraw‐Hill, 1994:56.

      21 21. Plachot M. Chromosome analysis of oocytes and embryos. In: Verlinsky Y, Kuliev A, eds. Preimplantation genetics. New York: Plenum Press, 1991:103.

      22 22. Boué J, Boué A, Lazar P. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology 1975; 12:11.

      23 23. Liu J, Wang W, Sun X, et al. DNA microarray reveals that high proportions of human blastocysts from women of advanced maternal age are aneuploid and mosaic. Biol Reprod 2012; 87:148.

      24 24. Mertzanidou A, Wilton L, Cheng J, et al. Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos. Hum Reprod 2013; 28:256.

      25 25. Alberman ED, Creasy MR. Frequency of chromosomal abnormalities in miscarriages and perinatal deaths. J Med Genet 1977; 14:313.

      26 26. Holmes‐Seidle M, Ryyvanen M, Lindenbaum RH. Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenat Diagn 1987; 7:239.

      27 27. Martinez‐Frias ML, Bermejo E, Cereijo A, et al. Epidemiological aspects of Mendelian syndromes in a Spanish population sample. II. Autosomal recessive malformation syndromes. Am J Med Genet 1991; 38:626.

      28 28. Njoh J, Chellaram R, Ramas L. Congenital abnormalities in Liberian neonates. West Afr J Med 1991; 10:439.

      29 29. Verma IC. Burden of genetic disorders in India. Indian J Pediatr 2001; 67:893.

      30 30. Lie RT, Wilcox AJ, Skjaerven R. Survival and reproduction among males with birth defects and risk of recurrence in their children. JAMA 2001; 285:755.

      31 31. Queisser‐Luft A, Stolz G, Wiesel A, et al. Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990–1998). Arch Gynecol Obstet 2002; 266:163.

      32 32. Canfield MA, Mai CT, Wang Y, et al. The association between race/ethnicity and major birth defects in the United States, 1999–2007. Am J Public Health 2014; 104:e14.

      33 33. Baird PA, Anderson TW, Newcombe HB, et al. Genetic disorders in children and young adults: a population study. Am J Hum Genet 1988; 42:677.

      34 34. Blencowe H, Moorthie S, Petrou M, et al. Rare single gene disorders: estimating baseline prevalence and outcomes worldwide. J Community Genet 2018; 9:397.

      35 35. Woods CG, Cox J, Springell K, et al. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 2006; 78:889.

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