Maternal genetic disorders and fetal development.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
30
08
2019
revised:
30
11
2019
accepted:
19
01
2020
pubmed:
6
2
2020
medline:
3
11
2021
entrez:
4
2
2020
Statut:
ppublish
Résumé
With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. While pregnancy can have a significant impact on a woman's health when there is an underlying genetic disorder, there can also be fetal effects, including embryopathy, fetal growth restriction, and brain injury. Some maternal genetic disorders are associated with adverse perinatal outcomes, including a high risk of perinatal loss and preterm birth. In this article, we review several maternal genetic disorders associated with fetal risk that are important for clinicians and patients to understand and manage appropriately. These include phenylalanine hydroxylase (PAH) deficiency and other inborn errors of metabolism, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, Turner syndrome, sickle cell disease, and connective tissue disorders.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1056-1065Informations de copyright
© 2020 John Wiley & Sons, Ltd.
Références
Chetty S, Norton ME. Obstetric care in women with genetic disorders. Best Pract Res Clin Obstet Gynaecol Elsevier Ltd. 2017;42:86-99.
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(11):699-709.
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 Dec;66(12):765-776.
Harris S, Vora NL. Maternal genetic disorders in pregnancy. Obstet Gynecol Clin North Am. 2018 Jun;45(2):249-265.
Koch R, Gross Friedman E, Wenz E, Jew K, Crowley C, Donnell G. Maternal phenylketonuria. J Inherit Metab Dis. 1986;9(2 Supplement):159-168.
Yıldız Y, Sivri HS. Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management. Eur J Pediatr. 2019;178(7):1005-1011.
Platt LD, Koch R, Hanley WB, et al. The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. Am J Obstet Gynecol. 2000 Feb;182(2):326-333.
Committee opinion no: 636: Management of women with phenylketonuria. Obstet Gynecol. 2015 Jun;125(6):1548-50.
Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014 Feb;16(2):188-200.
National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics. 2001 Oct;108(4):972-982.
King JA, Stamilio DM. Maternal and fetal tuberous sclerosis complicating pregnancy: a case report and overview of the literature. Am J Perinatol. 2005;22(2):103-108.
Rattan PK, Knuppel RA, Scerbo JC, Foster G. Tuberous sclerosis in pregnancy. Obstet Gynecol. 1983 Sep;62(3 Suppl):21s-22s.
Petrikovsky BM, Vintzileos AM, Cassidy SB, Egan JF. Tuberous sclerosis in pregnancy. Am J Perinatol. 1990 Apr;7(2):133-135.
Chen S, Hu Y, Huang Y, et al. A newborn with seizures born to a mother diagnosed with primary carnitine deficiency. BMC Pediatr. BMC Pediatr. 2019;19(1):1-7.
El-Hattab AW, Li FY, Shen J, et al. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med. 2010;12(1):19-24.
Donnelly CT, Hameed AB, Abdenur JE, Wing DA. Carnitine deficiency in pregnancy. Obstet Gynecol. 2007 Aug;110(2 Pt 2):480-482.
Cordero DR, Baker J, Dorinzi D, Toffle R. Ornithine transcarbamylase deficiency in pregnancy. J Inherit Metab Dis. 2005;28(2):237-240.
Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. N Engl J Med. 1990 Jun 7;322(23):1652-1655.
Langendonk JG, Roos JCP, Angus L, et al. A series of pregnancies in women with inherited metabolic disease. J Inherit Metab Dis. 2012;35(3):419-424.
Nagao M, Tsuchiyama A, Aoyama T, Mori T, Oyanagi K. Secondary carnitine deficiency in the newborn period in twins of a mother with partial ornithine transcarbamylase deficiency. J Pediatr. 1989;115(4):611-614.
Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery K, van den Veyver I. Management of ornithine transcarbamylase deficiency in pregnancy. Am J Perinatol. 2010 Nov;27(10):775-784.
Ho B, Mackenzie J, Walia J, Geraghty M. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: considerations for management and review of the literature. 2019;(February):28-34.
Rudnik-Schöneborn S, Zerres K. Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature. Eur J Obstet Gynecol Reprod Biol. 2004;114(1):44-53.
Johnson NE, Hung M, Nasser E, et al. The impact of pregnancy on myotonic dystrophy: a registry-based study. J Neuromuscul Dis. 2015;2(4):447-452.
Awater C, Zerres K, Rudnik-Schöneborn S. Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. Eur J Obstet Gynecol Reprod Biol. 2012;162(2):153-159.
Rudnik-Schöneborn S, Schneider-Gold C, Raabe U, et al. Outcome and effect of pregnancy in myotonic dystrophy type 2. Neurology. 2006 Feb 28;66(4):579-580.
Edenborough FP, Borgo G, Knoop C, et al. Guidelines for the management of pregnancy in women with cystic fibrosis. J Cyst Fibros. 2008 Jan;7(Suppl 1):S2-S32.
Thorpe-Beeston JG, Madge S, Gyi K, Hodson M, Bilton D. The outcome of pregnancies in women with cystic fibrosis-single centre experience 1998-2011. BJOG. 2013 Feb;120(3):354-361.
Cheng EY, Goss CH, McKone EF, et al. Aggressive prenatal care results in successful fetal outcomes in CF women. J Cyst Fibros. 2006 May;5(2):85-91.
Committee on Genetics. Committee opinion no. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41-e55.
Birkebaek NH, Crüger D, Hansen J, Nielsen J, Bruun-Petersen G. Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet. 2002 Jan;61(1):35-39.
Bernard V, Donadille B, Zenaty D, et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod. 2016;31(4):782-788.
European Society of Gynecology (ESG), Association for European Paediatric Cardiology (AEPC), German Society for Gender Medicine (DGesGM), Regitz-Zagrosek V, Blomstrom Lundqvist C, Borghi C, et al. ESC guidelines on the management of cardiovascular diseases during pregnancy: the Task Force on the Management of Cardiovascular Diseases during Pregnancy of the European Society of Cardiology (ESC). Eur Heart J. 2011 Dec;32(24):3147-97.
Bryman I, Sylvén L, Berntorp K, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril. 2011 Jun 30;95(8):2507-2510.
Elkayam U, Goland S, Pieper PG, Silversides CK. High-risk cardiac disease in pregnancy. Part II J Am Coll Cardiol. 2016 Aug 2;68(5):502-516.
Costa VMF, Viana MB, Aguiar RALP. Pregnancy in patients with sickle cell disease: maternal and perinatal outcomes. J Matern Fetal Neonatal Med. 2015 Apr;28(6):685-689.
ACOG Committee on Obstetrics. ACOG practice bulletin no. 78: hemoglobinopathies in pregnancy. Obstet Gynecol. 2007 Jan;109(1):229-237.
Boafor TK, Olayemi E, Galadanci N, et al. Pregnancy outcomes in women with sickle-cell disease in low and high income countries: a systematic review and meta-analysis. BJOG. 2016 Apr;123(5):691-698.
Okusanya BO, Oladapo OT. Prophylactic versus selective blood transfusion for sickle cell disease in pregnancy. Cochrane Database Syst Rev. 2016;12:CD010378.
Malinowski AK, Shehata N, D'Souza R, et al. Prophylactic transfusion for pregnant women with sickle cell disease: a systematic review and meta-analysis. Blood. 2015 Nov 19;126(21):2424-35; quiz 2437.
Vianello A, Vencato E, Cantini M, et al. Improvement of maternal and fetal outcomes in women with sickle cell disease treated with early prophylactic erythrocytapheresis. Transfusion. 2018;58(9):2192-2201.
Reproductive Toxicology Center. 2019. Summary #1106. Hydroxyurea. REPROTOX. http://www.reprotox.org. Last updated 7/1/2019.
Raval DB, Merideth M, Sloan JL, et al. Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. J Inherit Metab Dis. 2015 Sep;38(5):839-846.
Murray ML, Pepin M, Peterson S, Byers PH. Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome. Genet Med. 2014;16(12):874-880.
Castori M, Morlino S, Dordoni C, et al. Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients. Am J Med Genet Part A. 2012;158 A(9):2176-82.
Sorokin Y, Johnson MP, Rogowski N, Richardson DA, Evans MI. Obstetric and gynecologic dysfunction in the Ehlers-Danlos syndrome. J Reprod Med. 1994 Apr;39(4):281-284.
Hurst BS, Lange SS, Kullstam SM, et al. Obstetric and gynecologic challenges in women with Ehlers-Danlos syndrome. Obstet Gynecol. 2014 Mar;123(3):506-513.
Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel A. Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type Ehlers-Danlos syndrome: a cohort study. Orphanet J Rare Dis. 2016;11(1):124.
Sundelin HEK, Stephansson O, Johansson K, Ludvigsson JF. Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome. Acta Obstet Gynecol Scand. 2017 Jan;96(1):114-119.
Murphy SL, Mathews TJ, Martin JA, Minkovitz CS, Strobino DM. Annual summary of vital statistics: 2013-2014. Pediatrics. 2017 Jun;139(6):e20163239.
Leduc L, Wasserstrum N. Successful treatment with the Smith-Hodge pessary of cervical incompetence due to defective connective tissue in Ehlers-Danlos syndrome. Am J Perinatol. 1992 Jan;9(1):25-27.
Cauldwell M, Steer PJ, Curtis S, et al. Maternal and fetal outcomes in pregnancies complicated by the inherited aortopathy Loeys-Dietz syndrome. BJOG an Int J Obstet Gynaecol. 2019;126(8):1025-1031.
Russo ML, Sukhavasi N, Mathur V, Morris SA. Obstetric management of Loeys-Dietz syndrome. Obstet Gynecol. 2018;131(6):1080-1084.
Cauldwell M, Steer PJ, Curtis SL, et al. Maternal and fetal outcomes in pregnancies complicated by Marfan syndrome. Heart. 2019;105(22):1725-1731.
Meijboom LJ, Drenthen W, Pieper PG, et al. Obstetric complications in Marfan syndrome. Int J Cardiol. 2006 Jun 7;110(1):53-59.
Hassan N, Patenaude V, Oddy L, Abenhaim HA. Pregnancy outcomes in Marfan syndrome: a retrospective cohort study. Am J Perinatol. 2015;32(2):123-130.
Tognato E, Perona A, Aronica A, et al. Neonatal Marfan syndrome. Am J Perinatol. 2019 Jul;36(S 02):S74-S76.
Goland S, Elkayam U. Pregnancy and Marfan syndrome. Ann Cardiothorac Surg. 2017 Nov;6(6):642-653.
Owens A, Yang J, Nie L, Lima F, Avila C, Stergiopoulos K. Neonatal and maternal outcomes in pregnant women with cardiac disease. J Am Heart Assoc. 2018;7(21):e009395.