Genetic Disorders and the Fetus. Группа авторов

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Lapaire O, et al. Exome sequencing of fetal anomaly syndromes: novel phenotype‐genotype discoveries. Eur J Hum Genet 2019; 27:730.

      689 689. Malinowski J, Miller DT, Demmer L, et al. Systematic evidence‐based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disabilities. Genet Med 2020; 22(6):986.

      690 690. Milunsky A. Heredity and your family's health. Baltimore, MD: Johns Hopkins University Press, 1992.

      691 691. Greenbaum L, Pode‐Shakked B, Eisenberg‐Barzilai S, et al. Evaluation of diagnostic yield in fetal whole‐exome sequencing: a report on 45 consecutive families. Front Genet 2019; 10:425.

      692 692. Goh YI, Chudley AE, Clarren SK, et al. Development of Canadian screening tools for fetal alcohol spectrum disorder. Can J Clin Pharmacol 2008; 15:e344.

      693 693. Memo L, Gnoato E, Caminiti S, et al. Fetal alcohol spectrum disorders and fetal alcohol syndrome: the state of the art and new diagnostic tools. Early Hum Dev 2013; 89(Suppl 1):S40.

      694 694. Chudley AE. Fetal alcohol spectrum disorder: counting the invisible – mission impossible? Arch Dis Child 2008; 93:721.

      695 695. Clarren SK, Randels SP, Sanderson M, et al. Screening for fetal alcohol syndrome in primary schools: a feasibility study. Teratology 2001; 63:3.

      696 696. Holmes LB. Human teratogens: update 2010. Birth Defects Red A Clin Mol Teratol 2011; 91:1.

      697 697. Gheysen W, Kennedy D. An update on maternal medication‐related embryopathies. Prenat Diagn 2020; 40:1168.

      698 698. Milunsky A, Ulcickas M, Rothman KJ, et al. Maternal heat exposure and neural tube defects. JAMA 1992; 268:882.

      699 699. Saunders NR, Dziegielewska KM. Medications for pregnant women: A balancing act between the interests of the mother and of the fetus. Prenat Diagn 2020; 40:1156.

      700 700. Martinez‐Frias ML, Bermejo E, Rodriguez‐Pinilla E, et al. Periconceptional exposure to contraceptive pills and risk for Down syndrome. J Perinatol 2001; 21:288.

      701 701. Shub A, Lappas M. Pregestational diabetes in pregnancy: complications, management, surveillance, and mechanisms of disease – a review. Prenat Diagn 2020; 40:1092.

      702 702. Murray SR, Reynolds RM. Short‐ and long‐term outcomes of gestational diabetes and its treatment on fetal development. Prenat Diagn 2020; 40:1085.

      703 703. Evans MI, Andriole S, Curtis J, et al. The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening. Prenat Diagn 2018; 38(10):730.

      704 704. Vora NL, Powell B, Brandt A, et al. Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges. Genet Med 2017; 19:1207.

      705 705. Jelin AC, Vora N. Whole exome sequencing: applications in prenatal genetics. Obstet Gynecol Clin North Am 2018; 45:69.

      706 706. Best S, Wou K, Vora N, et al. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn 2018; 38:10.

      707 707. Normand EA, Braxton A, Nassef S, et al. Clinical exome sequencing for fetuses with ultrasound abnormalities and suspected Mendelian disorder 2018; 10:74.

      708 708. Lord J, McMullan DJ, Eberhardt RY, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019; 393:747.

      709 709. Horn R, Parker M. Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing. Prenat Diagn 2018; 38:20.

      710 710. Bunnik EM, de Jong A, Nijsingh N, et al. The new genetics and informed consent: differentiating choice to preserve autonomy. Bioethics 2013; 27:348.

      711 711. ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med 2012; 14:759.

      712 712. Committee on Genetics and the Society for Maternal‐Fetal Medicine. Committee opinion no. 682: microarrays and next‐generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol 2016; 128:e262.

      713 713. Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 2017; 19:249.

      714 714. Johnston JJ, Rubinstein WS, Facio FM, et al. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high‐penetrance mutations in cancer‐susceptibility genes. Am J Hum Genet 2012; 91:97.

      715 715. Pinxten W, Howard HC. Ethical issues raised by whole genome sequencing. Best Pract Res Clin Gastroenterol 2014; 28:269.

      716 716. Committee of the International Huntington Association and the World Federation of Neurology. Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 1994; 31:555.

      717 717. International Huntington Association and World Federation of Neurology. Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 1994; 44:1533.

      718 718. Skirton H, Goldsmith L, Jackson L, et al. Quality in genetic counseling for presymptomatic testing‐clinical guidelines for practice across the range of genetic conditions. Eur J Hum Genet 2013; 21:256.

      719 719. MacLeod RTA, Frontali M, Evers‐Kiebooms G, et al. Recommendations for the predictive genetic test in Huntington's disease. Clin Genet 2013; 23:221.

      720 720. Tibben A, Duivenvoorden J, Niermeijer MF, et al. Psychological effects of presymptomatic DNA testing for Huntington's disease in theDutch program. Psychosom Med 1994; 56:526.

      721 721. Lawson K, Wiggins S, Green T, et al. Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. J Med Genet 1996; 33:856.

      722 722. Wiggins S, Whyte P, Huggins M, et al. The psychological consequences of predictive testing for Huntington's disease. N Engl J Med 1992; 327:1401.

      723 723. Evers‐Kiebooms G, Nys K, Harper P, et al. Predictive DNA‐testing for Huntington's disease and reproductive decision making: a European collaborative study. Eur J Hum Genet 2002; 10:167.

      724 724. Migliore S, Jankovic J, Squitieri F. Genetic counseling in Huntington's disease: potential new challenges on horizon? Front Neurol 2019; 10:453.

      725 725. Kenney C, Powell S, Jankovic J. Autopsy‐proven Huntington's disease with 29 trinucleotide repeats. Mov Dis 2007; 22:127.

      726 726. Killoran A, Biglan KM, Jankovic J, et al. Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS. Neurology 2013; 80:2022.

      727 727. Cubo E, Ramos‐Arroyo MA, Martinez‐Horta S, et al. Intermediate CAG repeats in Huntington' s disease. A longitudinal analysis of the European Huntington' s Disease Network Registry Cohort (S25. 003). Neurology 2016; 86:571.

      728 728. Kay C, Collins JA, Miedzybrodzka Z, et al. Huntington disease reduced penetrance alleles occur at high frequency in the general population. Neurology 2016; 87:282.

      729 729. Perry TL. Some ethical problems in Huntington's chorea. Can Med Assoc J 1981; 125:1098.

      730 730. Quaid KA, Brandt

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