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Chapter 27 - Genetic Disorders

Published online by Cambridge University Press:  26 January 2024

By
David J. Combs  and
Vesela P. Kovacheva
Edited by
David R. Gambling ,
M. Joanne Douglas  and
Grace Lim
David R. Gambling
Affiliation:
University of California, San Diego
M. Joanne Douglas
Affiliation:
University of British Columbia, Vancouver
Grace Lim
Affiliation:
University of Pittsburgh
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Summary

Genetic disorders commonly present or show severe manifestations early in life and in reproductive-age women. The impacts of such disorders in pregnancy are complex, often involving both mother and fetus. This chapter provides an overview of key concepts in genetics, focusing on the patterns of inheritance of monogenic disorders. The features and management of several common disorders are discussed, including alpha-1 antitrypsin deficiency, autosomal dominant polycystic kidney disease, Charcot Marie Tooth disease, Ehlers Danlos syndrome, Loeys-Dietz syndrome, glucose-6-phosphate dehydrogenase deficiency, Down syndrome, Turner syndrome, and mitochondrial disorders with a focus on management considerations, relevant for the practice of the obstetric anesthesiologist.

Keywords

geneticdominantrecessivepregnancyanesthesiaobstetric
Type
Chapter
Information
Obstetric Anesthesia and Uncommon Disorders , pp. 443 - 455
Publisher: Cambridge University Press
Print publication year: 2024

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References

Chetty, SP, Shaffer, BL, Norton, ME. Management of pregnancy in women with genetic disorders, Part 1: Disorders of the connective tissue, muscle, vascular, and skeletal systems. Obstet Gynecol Surv 2011;66:699–709.Google Scholar
Chetty, SP, Shaffer, BL, Norton, ME. Management of pregnancy in women with genetic disorders: Part 2: Inborn errors of metabolism, cystic fibrosis, neurofibromatosis type 1, and Turner syndrome in pregnancy. Obstet Gynecol Surv 2011;66:765–776.Google Scholar
Stone, J, Reed, D. Maternal genetic diseases: potential concerns for mother and baby. Hum Genet 2020;139:1173–1182.Google Scholar
Hemberger, M, Hanna, CW, Dean, W. Mechanisms of early placental development in mouse and humans. Nat Rev Genet 2020;21:27–43.Google Scholar
From, Gayon J. Mendel to epigenetics: history of genetics. C R Biol 2016;339:225–230.Google Scholar
OMIM – Online Mendelian Inheritance in Man. www.omim.org/Google Scholar
Van Heyningen, V, Yeyati, PL. Mechanisms of non-Mendelian inheritance in genetic disease. Hum Mol Genet 2004;13(Spec. No. 2):R225–R233.Google Scholar
Schacherer, J. Beyond the simplicity of Mendelian inheritance. C R Biol 2016;339:284–288.Google Scholar
Wei, W, Chinnery, PF. Inheritance of mitochondrial DNA in humans: implications for rare and common diseases. J Intern Med 2020;287:634–644.Google Scholar
Paulson, H. Repeat expansion diseases. Handb Clin Neurol 2018;147:105–123.Google Scholar
Cassidy, FC, Charalambous, M. Genomic imprinting, growth and maternal-fetal interactions. J Exp Biol 2018;221:jeb164517.Google Scholar
Dashe, JS. Aneuploidy screening in pregnancy. Obstet Gynecol 2016;128:181–194.Google Scholar
Visscher, PM, Wray, NR, Zhang, Q, et al. 10 Years of GWAS Discovery: biology, function, and translation. Am J Hum Genet 2017;101:5–22.Google Scholar
Natarajan, P, Young, R, Stitziel, NO, et al. Polygenic risk score identifies subgroup with higher burden of atherosclerosis and greater relative benefit from statin therapy in the primary prevention setting. Circulation 2017;135:2091–2101.Google Scholar
Strnad, P, McElvaney, NG, Lomas, DA. Alpha1-antitrypsin deficiency. N Engl J Med 2020;382:1443–1455.Google Scholar
Miravitlles, M, Dirksen, A, Ferrarotti, I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. Eur Respir J 2017;50:1700610.Google Scholar
Lomas, DA, Parfrey, H. Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology. Thorax 2004;59:529–535.Google Scholar
Bornhorst, JA, Greene, DN, Ashwood, ER, et al. α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. Chest 2013;143:1000–1008.Google Scholar
Gaeckle, NT, Stephenson, L, Reilkoff, RA. Alpha-1 antitrypsin deficiency and pregnancy. COPD 2020;17:326–332.Google Scholar
Giesler, CF, Buehler, JH, Depp R. Alpha1-antitrypsin deficiency. Severe obstructive lung disease and pregnancy. Obstet Gynecol 1977;49:31–34.Google Scholar
Dempsey, OJ, Godden, DJ, Martin, PD, et al. Severe alpha1-antitrypsin deficiency and pregnancy. Eur Respir J 1999;13:1492–1494.Google Scholar
Kennedy, SH, Barlow, DH, Redman, CW. Pre-eclampsia in a woman with homozygous PiZZ alpha-1 antitrypsin deficiency. Case report. Br J Obstet Gynaecol 1987;94:1103–1104.Google Scholar
Kuller, JA, Katz, VL, McCoy, MC, et al. Alpha 1-antitrypsin deficiency and pregnancy. Am J Perinatol 1995;12:303–305.Google Scholar
Atkinson, AR. Pregnancy and alpha-1 antitrypsin deficiency. Postgrad Med J 1987;63: 817–820.Google Scholar
Yesudian, PD, Dobson, CM, Wilson, NJ. Alpha1-antitrypsin deficiency panniculitis (phenotype PiZZ) precipitated postpartum and successfully treated with dapsone. Br J Dermatol 2004;150:1222–1223.Google Scholar
Furey, NL, Golden, RS, Potts, SR. Treatment of alpha-1-antitrypsin deficiency, massive edema, and panniculitis with alpha-1 protease inhibitor. Ann Intern Med 1996;125: 699.Google Scholar
Diaz, GC, O’Connor, MF, Renz, JF. Anesthesia for patients with concomitant hepatic and pulmonary dysfunction. Anesthesiol Clin 2016;34:797–808.Google Scholar
Griffiths, S, Nicholson, C. Anaesthetic implications for liver disease in pregnancy. BJA Educ 2016;16:21–25.Google Scholar
Edrich, T, Sadovnikoff, N. Anesthesia for patients with severe chronic obstructive pulmonary disease. Curr Opin Anaesthesiol 2010;23:18–24.Google Scholar
Mehta, N, Chen, K, Hardy, E, et al. Respiratory disease in pregnancy. Best Pract Res Clin Obstet Gynaecol 2015;29:598–611.Google Scholar
Bergmann, C, Guay-Woodford, LM, Harris, PC, et al. Polycystic kidney disease. Nat Rev Dis Primer 2018;4:50. https://doi.org/10.1038/s41572-018-0047-yGoogle Scholar
Torres, VE, Harris, PC, Pirson, Y. Autosomal dominant polycystic kidney disease. Lancet 2007;369:1287–1301.Google Scholar
Vora, N, Perrone, R, Bianchi, DW. Reproductive issues for adults with autosomal dominant polycystic kidney disease. Am J Kidney Dis 2008;51:307–318.Google Scholar
Graf, S, Schischma, A, Eberhardt, KE, et al. Intracranial aneurysms and dolichoectasia in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2002;17:819–823.Google Scholar
Gabow, PA, Johnson, AM, Kaehny, WD, et al. Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology 1990;11:1033–1037.Google Scholar
Torres, VE, Chapman, AB, Devuyst, O, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2012;367:2407–2418.Google Scholar
Torres, VE, Chapman, AB, Devuyst, O, et al. Tolvaptan in later-stage autosomal dominant polycystic kidney disease. N Engl J Med 2017;377:1930–1942.Google Scholar
Jones, DC, Hayslett, J.P. Outcome of pregnancy in women with moderate or severe renal insufficiency. N Engl J Med 1996;335:226–232.Google Scholar
Fitzpatrick, A, Venugopal, K, Scheil, W, et al. The spectrum of adverse pregnancy outcomes based on kidney disease diagnoses: a 20-year population study. Am J Nephrol 2019;49:400–409.Google Scholar
Haseler, E, Melhem, N, Sinha, MD. Renal disease in pregnancy: fetal, neonatal and long-term outcomes. Best Pract Res Clin Obstet Gynaecol 2019;57:60–76.Google Scholar
Piccoli, GB, Arduino, S, Attini, R, et al. Multiple pregnancies in CKD patients: an explosive mix. Clin J Am Soc Nephrol 2013;8:41–50.Google Scholar
McBride, L, Wilkinson, C, Jesudason, S. Management of autosomal dominant polycystic kidney disease (ADPKD) during pregnancy: risks and challenges. Int J Womens Health 2020;12:409–422.Google Scholar
Fernandes, SD, Suvarna, D. Anesthetic considerations in a patient of autosomal dominant polycystic kidney disease on hemodialysis for emergency cesarean section. J Anaesthesiol Clin Pharmacol 2011;27:400–402.Google Scholar
Mitra, R, Rath, GP, Dube, SK, et al. Anesthetic management in a patient of autosomal dominant polycystic kidney disease with end stage renal disease undergoing endovascular coiling for multiple intracranial aneurysms. J Anaesthesiol Clin Pharmacol 2017;33:256–258.Google Scholar
Savige, J, Tunnicliffe, DJ, Rangan, GK. KHA-CARI autosomal dominant kidney disease guideline: management of chronic pain. Semin Nephrol 2015;35:607–611.e3.Google Scholar
Wu, M, Wang, D, Zand, L, et al. Pregnancy outcomes in autosomal dominant polycystic kidney disease: a case-control study. J Matern Fetal Neonatal Med 2016;29:807–812.Google Scholar
D’Agnolo, HMA, Drenth, JPH. Risk factors for progressive polycystic liver disease: where do we stand? Nephrol Dial Transplant 2016;31:857–859.Google Scholar
Lee, VW, Dexter, MAJ, Mai, J, et al. KHA-CARI autosomal dominant polycystic kidney disease guideline: management of intracranial aneurysms. Semin Nephrol 2015;35:612–617.e20.Google Scholar
Braathen, GJ. Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand 2012;193:iv–22. https://doi.org/10.1111/ane.12013Google Scholar
Laroche, CM, Carroll, N, Moxham, J, et al. Diaphragm weakness in Charcot-Marie-Tooth disease. Thorax 1988;43:478–479.Google Scholar
Reah, G, Lyons, GR. Wilson, RC. Anaesthesia for caesarean section in a patient with Charcot-Marie-Tooth disease. Anaesthesia 1988;53:586–588.Google Scholar
Pisciotta, C, Calabrese, D, Santoro, L, et al. Pregnancy in Charcot-Marie-Tooth disease: data from the Italian CMT national registry. Neurology 2020;95:e3180–e3189.Google Scholar
Rudnik-Schoneborn, S, Thiele, S, Walter, MC, et al. Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany. Eur J Neurol 2020;27:1390–1396.Google Scholar
Scull, T, Weeks, S. Epidural analgesia for labour in a patient with Charcot-Marie-Tooth disease. Can J Anaesth 1996;43:1150–1152.Google Scholar
Tanaka, S, Tsuchida, H, Namiki, A. Epidural anesthesia for a patient with Charcot-Marie-Tooth disease, mitral valve prolapse syndrome and IInd degree AV block. Masui 1994;43:931–933.Google Scholar
Schmitt, HJ, Muenster, T, Schmidt, J. Central neural blockade in Charcot-Marie-Tooth disease. Can J Anaesth 2004;51:1049–1050.Google Scholar
Zanjani, AP, Ghorbani, A, Eslami, B, et al. Epidural anesthesia combined with light general anesthesia for a juvenile with Charcot-Marie-Tooth disease undergoing corrective spine surgery: a case report. Anesth Pain Med 2017;7:e14189.Google Scholar
Antognini, JF. Anaesthesia for Charcot-Marie-Tooth disease: a review of 86 cases. Can J Anaesth 1992;39:398–400.Google Scholar
Ducart, A, Adnet, P, Renaud, B, et al. Malignant hyperthermia during sevoflurane administration. Anesth Analg 1995;80:609–611.Google Scholar
Demmler, JC, Atkinson, MD, Reinhold, EJ, et al. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open 2019;9:e031365.Google Scholar
Malfait, F, Francomano, C, Byers, P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017;175:8–26.Google Scholar
Murray, ML, Pepin, M, Peterson, S, et al. Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome. Genet Med 2014;16:874–880.Google Scholar
Hiratzka, LF, Bakris, GL, Beckman, JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease: Executive summary: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Anesth Analg 2010;111:279–315.Google Scholar
Lind, J, Wallenburg, HC. Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population. Acta Obstet Gynecol Scand 2002;81:293–300.Google Scholar
Grigoriou, E, Boris, JR, Dormans, JP. Postural orthostatic tachycardia syndrome (POTS): association with Ehlers-Danlos syndrome and orthopaedic considerations. Clin Orthop Relat Res 2015;473:722–728.Google Scholar
Karthikeyan, A, Venkat-Raman, N. Hypermobile Ehlers-Danlos syndrome and pregnancy. Obstet Med 2018;11:104–109.Google Scholar
Mast, KJ, Nunes, ME, Ruymann, FB, et al. Desmopressin responsiveness in children with Ehlers-Danlos syndrome associated bleeding symptoms. Br J Haematol 2009;144:230–233.Google Scholar
Wiesmann, T, Castori, M, Malfait, F, et al. Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). Orphanet J Rare Dis 2014;9:109. https://doi.org/10.1186/s13023-014-0109-5Google Scholar
Hakim, AJ, Grahame, R, Norris, P, et al. Local anaesthetic failure in joint hypermobility syndrome. J R Soc Med 2005;98:84–85.Google Scholar
Halko, GJ, Cobb, R, Abeles, M. Patients with type IV Ehlers-Danlos syndrome may be predisposed to atlantoaxial subluxation. J Rheumatol 1995;22:2152–2155.Google Scholar
Loeys, BL, Chen, J, Neptune, ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275–281.Google Scholar
Schepers, D, Tortora, G, Morisaki, H, et al. A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. Hum Mutat 2018;39:621–634.Google Scholar
Loeys, BL, Schwarze, U, Holm, T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788–798.Google Scholar
Jondeau, G, Ropers, J, Regalado, E, et al. International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). Circ Cardiovasc Genet 2016;9:548–558.Google Scholar
Regitz-Zagrosek, V, Roos-Hesselink, JW, Bauersachs, J, et al. 2018 ESC guidelines for the management of cardiovascular diseases during pregnancy. Eur Heart J 2018;39:3165–3241.Google Scholar
Cappellini, MD, Fiorelli, G. Glucose-6-phosphate dehydrogenase deficiency. Lancet 2008;371:64–74.Google Scholar
Kindzelskii, AL, Huang, J-B, Chaiworapongsa, T, et al. Pregnancy alters glucose-6-phosphate dehydrogenase trafficking, cell metabolism, and oxidant release of maternal neutrophils. J Clin Invest 2002;110:1801–1811.Google Scholar
Bulliamy, T, Luzzatto, L, Hirono, A, et al. Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 1997;23:302–313.Google Scholar
Perkins, RP. Hydrops fetalis and stillbirth in a male glucose-6-phosphate dehydrogenase-deficient fetus possibly due to maternal ingestion of sulfisoxazole; a case report. Am J Obstet Gynecol 1971;111:379–381.Google Scholar
Schiliro, G, Russo, A, Curreri, R, et al. Glucose-6-phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications. Clin Genet 1979;15:183–188.Google Scholar
Perkins, RP. The significance of glucose-6-phosphate dehydrogenase deficiency in pregnancy. Am J Obstet Gynecol 1976;125:215–223.Google Scholar
Chintapatla, R, Melinscak, H, Varma, M. Significance of low levels of glucose-6-phosphate dehydrogenase levels in pregnancy. Blood 2012;120:5165.Google Scholar
Beutler, E, Kuhl, W, Fox, M, et al. Prenatal diagnosis of glucose-6-phosphate-dehydrogenase deficiency. Acta Haematol 1992;87:103–104.Google Scholar
Najafi, N, Van de Velde, A, Poelaert, J. Potential risks of hemolysis after short-term administration of analgesics in children with glucose-6-phosphate dehydrogenase deficiency. J Pediatr 2011;159:1023–1028.Google Scholar
Elyassi, AR, Rowshan, HH. Perioperative management of the glucose-6-phosphate dehydrogenase deficient patient: a review of literature. Anesth Prog 2009;56:86–91.Google Scholar
Mai, CT, Isenburg, JL, Canfield, MA, et al. National population-based estimates for major birth defects, 2010–2014. Birth Defects Res 2019;111:1420–1435.Google Scholar
Presson, AP, Partyka, G, Jensen, KM, et al. Current estimate of Down Syndrome population prevalence in the United States. J Pediatr 2013;163:1163–1168.Google Scholar
Jensen, KM, Bulova, PD. Managing the care of adults with Down’s syndrome. BMJ 2014;349:g5596.Google Scholar
Martinez-Quintana, E, Rodriguez-Gonzalez, F, Medina-Gil, JM, et al. Clinical outcome in Down syndrome patients with congenital heart disease. Cir Cir 2010;78:245–250.Google Scholar
Sobey, CG, Judkins, CP, Sundararajan, V, et al. Risk of major cardiovascular events in people with Down Syndrome. PLoS One 2015;10,:e0137093.Google Scholar
Espinola-Zavaleta, N, Soto, ME, Romero-Gonzalez, A, et al. Prevalence of congenital heart disease and pulmonary hypertension in Down’s Syndrome: an echocardiographic study. J Cardiovasc Ultrasound 2015;23:72–77.Google Scholar
Milbrandt, TA, Johnston, CE, 2nd. Down syndrome and scoliosis: a review of a 50-year experience at one institution. Spine (Phila Pa 1976) 2005;30:2051–2055.Google Scholar
Hresko, MT, McCarthy, JC. Goldberg, MJ. Hip disease in adults with Down syndrome. J Bone Jt Surg Br 1993;75:604–607.Google Scholar
Macchini, F, Leva, E, Torricelli, M, et al. Treating acid reflux disease in patients with Down syndrome: pharmacological and physiological approaches. Clin Exp Gastroenterol 2011;4:19–22.Google Scholar
Melville, CA, Cooper, SA, McGrother, CW, et al. Obesity in adults with Down syndrome: a case-control study. J Intellect Disabil Res 2005;49:125–133.Google Scholar
Mantry, D, Cooper, SA, Smiley, E, et al. The prevalence and incidence of mental ill-health in adults with Down syndrome. J Intellect Disabil Res 2008;52:141–155.Google Scholar
Altuna, M, Gimenez, S, Fortea, J. Epilepsy in Down Syndrome: a highly prevalent comorbidity. J Clin Med 2021;10:2776. https://doi.org/10.3390/jcm10132776Google Scholar
Schmitt, HJ. Spinal anesthesia in a patient with Down’s syndrome. Can J Anaesth 2004;51:638.Google Scholar
Klausen, HH, Cordtz, J. Cardiac arrest in conjunction with hypoglycemia and spinal anesthesia. J Clin Anesth 2013;25:429–430.Google Scholar
Bull, MJ, Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2011;128:393–406.Google Scholar
Gravholt, CH, Andersen, NH, Conway, GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017;177:G1–G70.Google Scholar
Mortensen, KH, Andersen, NH, Gravholt, CH. Cardiovascular phenotype in Turner syndrome: integrating cardiology, genetics, and endocrinology. Endocr Rev 2012;33:677–714.Google Scholar
Bouet, P-E, Godbout, A, El Hachem, H, et al. Fertility and pregnancy in Turner syndrome. J Obstet Gynaecol Can 2016;38:712–718.Google Scholar
Calanchini, M, Aye, CYL, Orchard, E, et al. Fertility issues and pregnancy outcomes in Turner syndrome. Fertil Steril 2020;114:144–154.Google Scholar
Bernard, V, Donadille, B, Zenaty, D, et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod 2016;31:782–788.Google Scholar
Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril 2012;97:282–284.Google Scholar
Donadille, B, Bernard, V, Christin-Maitre, S. How can we make pregnancy safe for women with Turner syndrome? Am J Med Genet C Semin Med Genet 2019;181: 100–107.Google Scholar
Mashour, GA, Sunder, N, Acquadro, MA. Anesthetic management of Turner syndrome: a systematic approach. J Clin Anesth 2005;17:128–130.Google Scholar
Kalopita, K, Michala, L, Theofanakis, C, et al. Anesthetic management of mosaic Turner’s syndrome posted for elective cesarean delivery after spontaneous pregnancy. Int J Obstet Anesth 2018;34:102–105.Google Scholar
Liu, WC, Hwang, CB, Cheng, RK, et al. Unexpected left endobronchial intubation in a case of Turner’s syndrome. Acta Anaesthesiol Sin 1997;35:253–256.Google Scholar
Maranhão, MVM. Turner syndrome and anesthesia. Rev Bras Anestesiol 2008;58:84–89.Google Scholar
Divekar, VM, Kothari, MD, Kamdar, BM. Anaesthesia in Turner’s syndrome. Can Anaesth Soc J 1983;30:417–418.Google Scholar
Schaefer, AM, McFarland, R, Blakely, EL, et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008;63:35–39.Google Scholar
Balachandran Nair, D, Bloomfield, M, Parasuraman, R, et al. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in pregnancy. BMJ Case Rep 2021;14:e235111. https://doi.org/10.1136/bcr-2020-235111Google Scholar
Group TGD. Newcastle Mitochondrial Disease Guidelines. 2013. Available from: www.newcastle-mitochondria.com/wp-content/uploads/2016/03/Pregnancy-Guidelines.pdf [last accessed October 4, 2022].Google Scholar
de Laat, P, Fleuren, LH, Bekker, MN, et al. Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome. Mitochondrion 2015;25:98–103.Google Scholar
Moriarty, KT, McFarland, R, Whittake, R, et al. Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G melas mutation. J Obstet Gynaecol 2008;28:349.Google Scholar
Ioscovich, A, Barth, D, Samueloff, A, et al. Anesthetic management of a patient with cleidocranial dysplasia undergoing various obstetric procedures. Int J Obstet Anesth 2010;19:106–108.Google Scholar
Nishio, Y, Hiraki, T, Taniguchi, H, et al. Anesthetic management during a cesarean section in a patient with cleidocranial dysplasia: a case report. JA Clin Rep 2018;4:2. https://doi.org/10.1186/s40981-017-0141-2Google Scholar

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