2018.

7. За объяснение благодарю RasopathiesNet.

8. Psychopathological features in F Perrino et al., ‘Noonan Syndrome’, European Journal of Paediatric Neurology, 2017.

9. There is some evidence older men can pass along this de novo mutation in their sperm. Author interview, Beth Stonach from RasopathiesNet, 2018.

10. Marco Tartaglia et al., ‘Mutations in PTPN11, Encoding the Protein Tyrosine Phosphatase SHP-2, Cause Noonan Syndrome’, Nature Genetics, 2001.

11. C Ruth Jamieson et al., ‘Mapping a Gene for Noonan Syndrome to the Long Arm of Chromosome 12’, Nature Genetics, 1994.

12. William Tidyman and Katherine Rauen, ‘The Rasopathies: Developmental Syndromes of the RAS/MAPK Pathway’, Current Opinions in Genetics and Development, 2009.

13. According to Pia Ostergaard, reader in Human Genetics, St George’s Hospital.

14. Donald Paterson, Sick Children, Cassell, 1956, pp 396, 400.

15. Согласно Полу Ханту (Paul Hunt), a исследователю из Mencap.

16. https://www.genome.gov/26524120/chromosomes- fact-sheet/, accessed 31 January 2018.

17. https://library. down-syndrome.org/en-gb/research- practice/06/1/john-langdon-down-man-message, accessed 31 January 2018.

18. Siddhartha Mukherjee, The Gene: An Intimate History, Bodley Head, 2016, p 267.

19. DA Christie and EM Tansey (eds) (2003) ‘Genetic Testing’, Wellcome Witnesses to Twentieth Century Medicine, vol. 17, Wellcome Trust Centre for the History of Medicine at UCL, p 20.

20. Mukherjee, The Gene, p 267.

21. Carlo Valenti et al., ‘Cytogenetic Diagnosis of Down’s Syndrome in Utero’, Journal of the American Medical Association, 207, 1969.

22. Caroline Ogilvie, ‘Cytogenics’, in Rodeck and Whittle, Foetal Medicine, Churchill Livingstone Elsevier, 2009, pp 305–9.

23. Boaz Weisz and Charles Rodeck, ‘Invasive Diagnostic Procedures’, in Rodeck and Whittle, Foetal Medicine, pp292–5.

24. J Haddow, G Palomaki, J Canick and G Knight, ‘Prenatal Screening for Open Neural Tube Defects and Down’s Syndrome’, in Rodeck and Whittle, Foetal Medicine.

25. Haddow et al., ‘Prenatal Screening for Open Neural Tube Defects and Down’s Syndrome’.

26. Haddow et al., ‘Prenatal Screening for Open Neural Tube Defects and Down’s Syndrome’ and https://www.telegraph.co.uk/news/health/news/6440705/ Three-babies-aborted-every-day-due-to-Downs-syndrome.html, accessed 13 July 2018.

27. Author interview Kypros Nicolaides, 2017.

28. Author interview Pranav Pandya, 2018.

29. Olav Lepaire et al., ‘Non- Invasive Screening and Diagnosis from Maternal Blood’, in Rodeck and Whittle, Foetal Medicine, p 283.

30. https://www.technologyreview.com/s/513691/prenatal-dna-sequencing, accessed 17 May 2018.

31. National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) figures 2014, reported by Sarah Stevens, Public Health Consultant, Registry lead, NCARDRS.

32. https://www.cbsnews.com/news/down-syndrome-iceland, accessed 2 May 2018.

33. https://www.gov.uk/ government/uploads/system/uploads/attachment_data/file/652083/Abortion_stats_England_ Wales_2016.pdf, accessed 31 January 2018.

34. https://www.bpas.org/ abortion-care/abortion-treatments/the-abortion-pill/feticide, accessed 13 July 2018.

35. Margaret Wynn, Prevention of Handicap and the Health of Women, Routledge, 1979, pp 12–13.

36. https://www. downs-syndrome.org.uk/about/general/, accessed 6 February 2018.

37. https://www.thecut.com/2017/11/raising-child-with- cystic-fibrosis.html?_ga=2.177052709.1238175379. 1547118530-812552985.1501236218, accessed 13 January 2019.

38. https://www.natera.com/press-releases/natera-inc- announces-launch-vistara-single-gene-mutation-nipt, accessed 17 January 2018.

39. https://www.mothercare.com/babybond.html, accessed 10 January 2019.

40. https://www.nhs.uk/conditions/klinefelters-syndrome/, accessed 17 May 2018.

41. https://www.technologyreview.com/s/513691/prenatal-dna-sequencing, accessed 17 May 2018.

ГЛАВА 7. «МАМА»

1. Koop, Koop: The Memoirs of America’s Family Doctor, p 117.

2. Budin, The Nursling, p 68.

3. Koop, Koop: The Memoirs of America’s Family Doctor, p 104.

4. Budin, The Nursling, p 13.

5. Budin, The Nursling, p 36.

6. Budin, The Nursling, p 36.

7. Hess, Premature and Congenitally Diseased Infants, p 126.

8. Crosse, The Premature Baby, pp 57–8.

9. https://www.theatlantic.com/health/archive/2017/ 02/ kangaroo-care/515844/, accessed 11 April 2018.

10. https://www.laleche.org.uk/ meeting-needs-premature-babies-kangaroo-mother-care/, accessed 11 January 2018.

11. https://www.todaysparent.com/baby/ newborn-care/ preemie-care-now-in-hands-of-parents, accessed 11 April 2018.

12. Dally, Women under the Knife, Introduction.

13. Newman, Fetal Positions, p 51.

14. Newman, Fetal Positions, p 61.

ГЛАВА 8. ОПЕРАЦИЯ

1. Kate Bull, Open Hearts, Elliott & Thompson, 2016, p 215.

2. Musemuche, Small, p 11.

3. Bull, Open Hearts, p 175.

4. Bull, Open Hearts, p 32.

5. https://www.achaheart.org/ your-heart/health-information/tetralogy- of-fallot, accessed 3 May 2018.

6. Koop, Koop: The Memoirs of America’s Family Doctor, p 75.

7. John G Raffensberger, Children’s Surgery: A Worldwide History, McFarland & Co., 2012, p 53.

8. Raffensberger, Children’s Surgery, p 77.

9. Koop, Koop: The Memoirs of America’s Family Doctor, p 76.

10. Musemuche, Small, pp 23–5.

11. Details about Koop from Koop, Koop: The Memoirs of America’s Family Doctor, pp 76-117.

12. Bull, Open Hearts, p 174.

13. Bull, Open Hearts, p 99.

14. Musemuche, Small, p 18.

15. Author interview Martin Elliott, 2017.

16. Author interview Martin Elliott, 2017.

17. Martin Elliott, ‘The Size of a Walnut: Your Heart in their Hands’, lecture, Gresham College, 25 May 2016.

18. Bull, Open Hearts p 130.

19. Bull, Open Hearts, p 22.

20. E Kirmisson, A Handbook of the Surgery of Children, Hodder & Stoughton, 1910, p 806.

21. Author interview Alex Robertson, 2018.

ГЛАВА 9. ЧТО БЫЛО ДАЛЬШЕ

1. https://www.dailysignal.com/2014/12/09/elijahs-story-life-saved-birth, accessed 5 May 2018.

2. https://www.thetimes.co.uk/article/my-nightmare- in-hospital-ptb9rnb6drk, accessed 28 March 2018.

3. Author interview with Judith Meek, 2015.

4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820298, accessed 5 May 2018.

5. http://www.epicure.ac.uk/overview/main-challenges/, accessed 19 January 2019.

6. https://www.telegraph.co.uk/news/science/science- news/12156081/Premature-babies-set-back-by-dungeon-incubators.html, accessed 5 May 2018.

7. https://www.seminperinat.com/article/ S0146-0005 (16) 30080-5/abstract?cc=y=, accessed 5 May 2018.

8. http://www. sec-ed.co.uk/best-practice/the-emerging-new-sens-of-students-born-prematurely, accessed 5 May 2018.

9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820298, accessed 5 May 2018.

10. http://www.biomedcentral.com/ 1471–2431/13/25, accessed 5 May 2018.

11. Author interview Neil Marlow, 2016.

12. Alessandra Piontelli, From Foetus to Child: An Observational and Psychoanalytic Study, Routledge, 1992.

13. Sigmund Freud, Inhibitions, Symptoms and Anxiety (first published 1925), in Standard Edition of the Complete Psychological Works of Sigmund Freud, Vol. 20, Vintage Classics, 2001, p 138.

14. Koop, Koop: The Memoirs of America’s Family Doctor, p 246.

15. Stephanie Nimmo, Was This in the Plan?, Hashtag Press, 2017 and Stephanie Nimmo, Goodbye Daisy, Hashtag Press, 2018 and wasthisintheplan.co.uk

16. Author interview Mark Johnson, 2018.

ГЛАВА 10. ЗНАНИЕ

1. https://www.natera.com/press-releases/naterainc-announces-launch-vistara-single-gene-mutation-nipt, accessed 7 January 2018.

2. Brown, The Boy in the Moon, p 75.

3. https://www.theguardian.com/commentisfree/ 2017/jul/12/charlie-gard-doctors-speak-out-hospital-staff?CMP=fb_gu, accessed 13 July 2018.

4. https://www.nejm.org/doi/pdf/10.1056/NEJM 199612123352404, accessed 17 August 2018.

5. Author interview Mark Johnson, 2018.

6. https://www.npr.org/sections/health-shots/ 2017/06/21/532601431/survivors-of-childhood-diseases-struggle-to-find-care-as-adults, accessed May 2018.

Примечания

1

University College Hospital (UCH). – Прим. пер.

2

Иначе называется гидроторакс. Это скопление жидкости в полости, где лежат легкие (плевральная полость). – Прим. науч. ред.

3

В разных странах по-разному относятся к процедуре УЗИ и на ранних сроках иногда назначают исследование только по показаниям, например, если у беременной были кровотечения. – Прим. пер.

4

При биопсии ворсин хориона для анализа берут ткани хориона – части плаценты, относящейся к зародышу и имеющей его генетический материл. При пункции плодового пузыря, или амниоцентезе, прокалывают стенку матки и плодовой пузырь для забора жидкости, омывающей плод и содержащей его клетки. – Прим. науч. ред.

5

Диабет, появляющийся у женщин