Prenatal pharmacotherapy for fetal anomalies: A 2011 update

Prenatal Diagnosis

Volumn 31, Issue 7, 2011, Pages 735-743

  Hui, Lisa ^a,b   Bianchi, Diana W ^a  

^a TUFTS MEDICAL CENTER   (United States)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

CCAM; Congenital adrenal hyperplasia; Fetal arrhythmias; Fetal goiter; Fetal therapy; Fetal transcriptome; Polyhydramnios

Indexed keywords

AMIODARONE; ANDROGEN; ANTITHYROID AGENT; BETAMETHASONE; BIOTIN; CORTICOSTEROID; CYANOCOBALAMIN; DEXAMETHASONE; DIGOXIN; FLECAINIDE; FRESH FROZEN PLASMA; GLOBIN; GLUCOSE; IMMUNOGLOBULIN; INDOMETACIN; LEVOTHYROXINE; PLACEBO; PROPYLTHIOURACIL; PYRIDOXINE; RIBONUCLEOPROTEIN ANTIBODY; SERINE; SOTALOL; STEROID; STEROID 21 MONOOXYGENASE; SULINDAC;

3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; ADIPOSE TISSUE; AMINO ACID SYNTHESIS; AMNIOCENTESIS; AMNION FLUID; BARTTER SYNDROME; BEHAVIOR CHANGE; BRAIN DEVELOPMENT; CHORION VILLUS SAMPLING; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL DISORDER; CONGENITAL HEART BLOCK; CORTICOSTEROID THERAPY; CYSTIC ADENOMATOID MALFORMATION; DISEASE ASSOCIATION; DISEASE SEVERITY; DISORDERS OF CARBOHYDRATE METABOLISM; DRUG ABSORPTION; DRUG BIOAVAILABILITY; DRUG EFFECT; DRUG EFFICACY; DRUG EXPOSURE; DRUG SAFETY; DRUG TREATMENT FAILURE; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAILURE TO THRIVE; FETAL GOITROUS HYPOTHYROIDISM; FETAL THERAPY; FETUS DISEASE; FETUS GROWTH; FETUS MALFORMATION; FETUS RISK; FETUS SURGERY; FIRST TRIMESTER PREGNANCY; FOLLOW UP; GENE MUTATION; GENITAL SYSTEM; GESTATIONAL AGE; GLUCOSE TOLERANCE; HEART ARRHYTHMIA; HEART ATRIUM FLUTTER; HEART ATRIUM PACEMAKER; HIGH RISK PREGNANCY; HORMONAL THERAPY; HUMAN; HYDRAMNIOS; HYDROPS; HYPOTHALAMUS HYPOPHYSIS ADRENAL SYSTEM; HYPOTHYROIDISM; IMMUNOTHERAPY; INFECTION; LONG TERM CARE; METHYLMALONIC ACIDEMIA; MOLECULAR GENETICS; MONOCHORIONIC MONOAMNIOTIC TWIN; MULTICENTER STUDY (TOPIC); NEONATAL ALLOIMMUNE THROMBOCYTOPENIA; OSTEOPOROSIS; OVERALL SURVIVAL; PERINATAL CARE; PLACENTAL TRANSFER; POSTNATAL CARE; PREMATURE FETUS MEMBRANE RUPTURE; PREMATURE LABOR; PRENATAL CARE; PRENATAL DIAGNOSIS; PRENATAL EXPOSURE; PRENATAL SCREENING; PRIORITY JOURNAL; PROGNOSIS; PROTEIN BINDING; PSYCHOMOTOR DEVELOPMENT; RANDOMIZED CONTROLLED TRIAL (TOPIC); RECURRENT DISEASE; REVIEW; SECOND TRIMESTER PREGNANCY; SEIZURE; SINUS RHYTHM; SMITH LEMLI OPITZ SYNDROME; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROID THERAPY; SUPRAVENTRICULAR TACHYCARDIA; TACHYCARDIA; THIRD TRIMESTER PREGNANCY; THROMBOCYTOPENIC PURPURA; THYROTOXICOSIS; UNSPECIFIED SIDE EFFECT;

ARRHYTHMIAS, CARDIAC; DRUG THERAPY; FEMALE; FETAL DISEASES; FETAL THERAPIES; HUMANS; METABOLISM, INBORN ERRORS; MODELS, BIOLOGICAL; POLYHYDRAMNIOS; PREGNANCY; THYROTOXICOSIS;

EID: 79959358650     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2777     Document Type: Review

References (90)

1. Abuhamad AZ, Fisher DA, Warsof SL, et al. 1995. Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol 6: 368-371.
2. Agrawal P, Ogilvy-Stuart A, Lees C. 2002. Intrauterine diagnosis and management of congenital goitrous hypothyroidism. Ultrasound Obstet Gynecol 5: 501-505.
3. Ampola MG, Mahoney MJ, Nakamura E, Tanaka K. 1975. Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia. N Engl J Med 293: 313-317.
4. Api O, Carvalho JS. 2008. Fetal dysrhythmias. Best Pract Res Clin Obstet Gynaecol 22: 31-48.
5. Avent ND, Chitty LS. 2006. Non-invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound. Prenat Diagn 26: 598-603.
6. Bok LA, Been JV, Struys EA, Jakobs C, Rijper EA, Willemsen MA. 2010. Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. Eur J Pediatr 169: 297-303.
7. Börgel K, Pohlenz J, Holzgreve W, Bramswig J. 2005. Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up. Am J Obstet Gynecol 193: 857-858.
8. Bowman ML, Bergmann M, Smith JF. 1998. Intrapartum labetalol for the treatment of maternal and fetal thyrotoxicosis. Thyroid 8: 795-796.
9. Breur JM, Visser GH, Kruize AA, Stoutenbeek P, Meijboom EJ. 2004. Treatment of fetal heart block with maternal steroid therapy: case report and review of the literature. Ultrasound Obstet Gynecol 24: 467-472.
10. Carlan SJ, O'Brien WF, O'Leary TD, Mastrogiannis D. 1992. Randomized comparative trial of indomethacin and sulindac for the treatment of refractory preterm labor. Obstet Gynecol 79: 223-228.
11. Cavicchi C, Donati MA, Funghini S, et al. 2006. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. Clin Genet 69: 72-76.
12. Clayton PE, Miller WL, Oberfield SE, Ritzen EM, Sippell WG, Speiser PW. 2002. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 58: 188-195.
13. Corral E, Reascos M, Preiss Y, Rompel SM, Sepulveda W. 2010. Treatment of fetal goitrous hypothyroidism: value of direct intramuscular L-thyroxine therapy. Prenat Diagn 30: 899-901.
14. Crombleholme TM, Coleman B, Hedrick H, et al. 2002. Cystic adenomatoid malformation volume ratio predicts outcome in prenatally diagnosed cystic adenomatoid malformation of the lung. J Pediatr Surg 37: 331-338.
15. Curran PF, Jelin EB, Rand L, et al. 2010. Prenatal steroids for microcystic congenital cystic adenomatoid malformations. J Pediatr Surg 45: 145-150.
16. Dane B, Dane C, Aksoy F. 2010. Antenatal Bartter syndrome: analysis of two cases with placental findings. Fetal Pediatr Pathol 29: 121-126.
17. David AL, Ataullah I, Yates R, Sullivan I, Charles P, Williams D. 2010. Congenital fetal heart block: a potential therapeutic role for intravenous immunoglobulin. Obstet Gynecol 116(Suppl. 2): 43-47.
18. De Bie I, Nizard SD, Mitchell GA. 2009. Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat Diagn 3: 266-270.
19. de Koning TJ, Klomp LW, van Oppen AC, et al. 2004. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet 364: 2221-2222.
20. Dorleijn DM, Cohen-Overbeek TE, Groenendaal F, Bruinse HW, Stoutenbeek P. 2009. Idiopathic polyhydramnios and postnatal findings. J Matern Fetal Neonatal Med 22: 315-320.
21. D'Souza D, MacKenzie WE, Martin WL. 2002. Transplacental flecainide therapy in the treatment of fetal supraventricular tachycardia. J Obstet Gynaecol 22: 320-322.
22. Duncombe GJ, Dickinson JE. 2001. Fetal thyrotoxicosis after maternal thyroidectomy. Aust N Z J Obstet Gynaecol 41: 224-227.
23. Ebenroth ES, Cordes TM, Darragh RK. 2001. Second-line treatment of fetal supraventricular tachycardia using flecainide acetate. Pediatr Cardiol 22: 483-487.
24. Flack NJ, Zosmer N, Bennett PR. 1993. Amiodarone given by three routes to terminate fetal atrial flutter associated with severe hydrops. Obstet Gynecol 82:(4 Pt 2 Suppl): 714-716.
25. Forest MG, Betuel H, David M. 1989. Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study. Endocr Res 15: 277-301.
26. Friedman DM, Kim MY, Copel JA, Llanos C, Davis C, Buyon JP. 2009. Prospective evaluation of fetuses with autoimmune-associated congenital heart block followed in the PR Interval and Dexamethasone Evaluation (PRIDE) Study. Am J Cardiol 103: 1102-1106.
27. Friedman DM, Llanos C, Izmirly PM, et al. 2010. Evaluation of fetuses in a study of intravenous immunoglobulin as preventive therapy for congenital heart block: results of a multicenter, prospective, open-label clinical trial. Arthritis Rheum 62: 1138-1146.
28. Frohn-Mulder IM, Stewart PA, Witsenburg M, Den Hollander NS, Wladimiroff JW, Hess J. 1995. The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia. Prenat Diagn 15: 1297-1302.
29. Grethel EJ, Wagner AJ, Clifton MS, et al. 2007. Fetal intervention for mass lesions and hydrops improves outcome: a 15-year experience. J Pediatr Surg 42: 117-123.
30. Hallak M, Moise K, Jr, Lira N, Dorman KF, Smith EO, Cotton DB. 1992. The effect of tocolytic agents (indomethacin and terbutaline) on fetal breathing and body movements: a prospective, randomized, double-blind, placebo-controlled clinical trial. Am J Obstet Gynecol 167: 1059-1063.
31. Hanono A, Shah B, David R, et al. 2009. Antenatal treatment of fetal goiter: a therapeutic challenge. J Matern Fetal Neonatal Med 22: 76-80.
32. Hansmann M, Gembruch U, Bald R, Manz M, Redel DA. 1991. Fetal tachyarrhythmias: transplacental and direct treatment of the fetus-a report of 60 cases. Ultrasound Obstet Gynecol 1: 162-168.
33. Hashimoto H, Hashimoto K, Suehara N. 2006. Successful in utero treatment of fetal goitrous hypothyroidism: case report and review of the literature. Fetal Diagn Ther 21: 360-365.
34. Heckel S, Favre R, Schlienger JL, Soskin P. 1997. Diagnosis and successful in utero treatment of a fetal goitrous hyperthyroidism caused by maternal Graves disease. A case study. Fetal Diagn Ther 12: 54-58.
35. Hill M, Finning K, Martin P, et al. 2010. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet [Epub ahead of print]. DOI: 10.1111/j.1399-0004.2010.01533.x.
36. Hirvikoski T, Nordenström A, Lindholm T, Lindblad F, Ritzen EM, Lajic S. 2008. Long-term follow-up of prenatally treated children at risk for congenital adrenal hyperplasia: does dexamethasone cause behavioural problems? Eur J Endocrinol 159: 309-316.
37. Huemer M, Simma B, Fowler B, Suormala T, Bodamer OA, Sass JO. 2005. Prenatal and postnatal treatment in cobalamin C defect. J Pediatr 147: 469-472.
38. Irons MB, Nores J, Stewart TL, et al. 1999. Antenatal therapy of Smith-Lemli Opitz syndrome. Fetal Diagn Ther 14: 133-137.
39. Jaeggi ET, Fouron JC, Silverman ED, Ryan G, Smallhorn J, Hornberger LK. 2004. Transplacental fetal treatment improves the outcome of prenatally diagnosed complete atrioventricular block without structural heart disease. Circulation 110: 1542-1548.
40. Jayagopal N, Sinha D, Bhatti NR. 2007. Use of sulindac in polyhydramnios. J Obstet Gynaecol 8: 850-850.
41. Kaaja R, Julkunen H. 2003. Prevention of recurrence of congenital heart block with intravenous immunoglobulin and corticosteroid therapy: comment on the editorial by Buyon, et al. Arthritis Rheum 48: 280-281, author reply 281-282.
42. Kamenova K. 2010. Politics and persuasion in medical controversies. Am J Bioeth 10: 68-69.
43. Kirshon B, Moise KJ, Jr, Wasserstrum N, Ou CN, Huhta JC. 1988. Influence of short-term indomethacin therapy on fetal urine output. Obstet Gynecol 72: 51-53.
44. Kirshon B, Moise KJ, Jr, Mari G, Willis R. 1991. Long-term indomethacin therapy decreases fetal urine output and results in oligohydramnios. Am J Perinatol 8: 86-88.
45. Konrad M, Leonhardt A, Hensen P, Seyberth HW, Kockerling A. 1999. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. Pediatrics 103: 678-683.
46. Krapp M, Kohl T, Simpson JM, Sharland GK, Katalinic A, Gembruch U. 2003. Review of diagnosis, treatment, and outcome of fetal atrial flutter compared with supraventricular tachycardia. Heart 89: 913-917.
47. Lajic S, Nordenstrom A, Hirvikoski T. 2008. Long-term outcome of prenatal treatment of congenital adrenal hyperplasia. Endocr Dev 13: 82-98.
48. Llanos C, Izmirly PM, Katholi M, et al. 2009. Recurrence rates of cardiac manifestations associated with neonatal lupus and maternal/fetal risk factors. Arthritis Rheum 60: 3091-3097.
49. Malvagia S, Morrone A, Pasquini E, et al. 2005. First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. Prenat Diagn 25: 1117-1119.
50. McCullough LB, Chervenak FA, Brent RL, Hippen B. 2010a. A case study in unethical transgressive bioethics: letter of concern from bioethicists about the prenatal administration of dexamethasone. Am J Bioeth 10: 35-45.
51. McCullough LB, Chervenak FA, Brent RL, Hippen B. 2010b. The intellectual and moral integrity of bioethics: response to commentaries on "a case study in unethical transgressive bioethics: 'letter of concern from bioethicists' about the prenatal administration of dexamethasone". Am J Bioeth 10: W3-W5.
52. Merriman JB, Gonzalez JM, Rychik J, Ural SH. 2008. Can digoxin and sotalol therapy for fetal supraventricular tachycardia and hydrops be successful? A case report. J Reprod Med 53: 357-359.
53. Miyata I, Abe-Gotyo N, Tajima A, et al. 2007. Successful intrauterine therapy for fetal goitrous hypothyroidism during late gestation. Endocr J 54: 813-817.
54. Moise KJ, Jr. 1997. Polyhydramnios. Clin Obstet Gynecol 40: 266-279.
55. Morris LM, Lim FY, Livingston JC, Polzin WJ, Crombleholme TM. 2009. High-risk fetal congenital pulmonary airway malformations have a variable response to steroids. J Pediatr Surg 44: 60-65.
56. New M. 2010. Description and defense of prenatal diagnosis and treatment with low-dose dexamethasone for congenital adrenal hyperplasia. Am J Bioeth 10: 48-51.
57. Oudijk MA, Michon MM, Kleinman CS, et al. 2000. Sotalol in the treatment of fetal dysrhythmias. Circulation 101: 2721-2726.
58. Oudijk MA, Ruskamp JM, Ververs FF, et al. 2003. Treatment of fetal tachycardia with sotalol: transplacental pharmacokinetics and pharmacodynamics. J Am Coll Cardiol 42: 765-770.
59. Packman S, Cowan MJ, Golbus MS, et al. 1982. Prenatal treatment of biotin responsive multiple carboxylase deficiency. Lancet 1: 1435-1438.
60. Parilla BV, Strasburger JF, Socol ML. 1996. Fetal supraventricular tachycardia complicated by hydrops fetalis: a role for direct fetal intramuscular therapy. Am J Perinatol 13: 483-486.
61. Pasquini L, Wimalasundera RC, Fichera A, Barigye O, Chappell L, Fisk NM. 2006. High perinatal survival in monoamniotic twins managed by prophylactic sulindac, intensive ultrasound surveillance, and Cesarean delivery at 32 weeks' gestation. Ultrasound Obstet Gynecol 28: 681-687.
62. Peek MJ, McCarthy A, Kyle P, Sepulveda W, Fisk NM. 1997. Medical amnioreduction with sulindac to reduce cord complications in monoamniotic twins. Am J Obstet Gynecol 176: 334-336.
63. Peranteau WH, Wilson RD, Liechty KW, et al. 2007. Effect of maternal betamethasone administration on prenatal congenital cystic adenomatoid malformation growth and fetal survival. Fetal Diagn Ther 22: 365-371.
64. Pisoni CN, Brucato A, Ruffatti A, et al. 2010. Failure of intravenous immunoglobulin to prevent congenital heart block: findings of a multicenter, prospective, observational study. Arthritis Rheum 62: 1147-1152.
65. Rasanen J, Jouppila P. 1995. Fetal cardiac function and ductus arteriosus during indomethacin and sulindac therapy for threatened preterm labor: a randomized study. Am J Obstet Gynecol 173: 20-25.
66. Rebelo M, Macedo AJ, Nogueira G, Trigo C, Kaku S. 2006. Sotalol in the treatment of fetal tachyarrhythmia. Rev Port Cardiol 25: 477-481.
67. Ribault V, Castanet M, Bertrand AM, et al. 2009. Experience with intraamniotic thyroxine treatment in nonimmune fetal goitrous hypothyroidism in 12 cases. J Clin Endocrinol Metab 94: 3731-3739.
68. Roth KS, Yang W, Allan L, Saunders M, Gravel RA, Dakshinamurti K. 1982. Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency. Pediatr Res 16: 126-129.
69. Slonim DK, Koide K, Johnson KL, et al. 2009. Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses. Proc Natl Acad Sci U S A 106: 9425-9429.
70. Soda H, Ohura T, Yoshida I, et al. 1995. Prenatal diagnosis and therapy for a patient with vitamin B12-responsive methylmalonic acidaemia. J Inherit Metab Dis 18: 295-298.
71. Spada M, Fowler B, Bonetti G. 1999. Fetal therapy in combined methylmalonic aciduria and homocystinuria. J Inherit Metab Dis 22(S1): 91-91.
72. Speiser PW, Azziz R, Baskin LS, et al. 2010. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 95: 4133-4160.
73. Srisupundit K, Sirichotiyakul S, Tongprasert F, Luewan S, Tongsong T. 2008. Fetal therapy in fetal thyrotoxicosis: a case report. Fetal Diagn Ther 23: 114-116.
74. Stevenson KM, Lumbers ER. 1992. Effects of indomethacin on fetal renal function, renal and umbilicoplacental blood flow and lung liquid production. J Dev Physiol 17: 257-264.
75. Strasburger JF, Wakai RT. 2010. Fetal cardiac arrhythmia detection and in utero therapy. Nat Rev Cardiol 7: 277-290.
76. Strasburger JF, Cuneo BF, Michon MM, et al. 2004. Amiodarone therapy for drug-refractory fetal tachycardia. Circulation 109: 375-379.
77. Suormala T, Fowler B, Jakobs C, et al. 1998. Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Eur J Pediatr 157: 570-575.
78. Thorpe-Beeston JG, Nicolaides KH, McGregor AM. 1992. Fetal thyroid function. Thyroid 2: 207-217.
79. Thuy LP, Belmont J, Nyhan WL. 1999. Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn 19: 108-112.
80. Ting MK, Hsu BR, Huang YY, Lin JD, Chen TC. 1999. Recurrent fetal thyrotoxicosis in a woman with Graves' disease: case report. Changgeng Yi Xue Za Zhi 22: 492-497.
81. Tsao K, Hawgood S, Vu L. Resolution of hydrops fetalis in congenital cystic adenomatoid malformation after prenatal steroid therapy. J Pediatr Surg 38: 508-510.
82. van den Heuvel F, Bink-Boelkens MT, du Marchie Sarvaas GJ, Berger RM. 2008. Drug management of fetal tachyarrhythmias: are we ready for a systematic and evidence-based approach? Pacing Clin Electrophysiol 31(Suppl. 1): S54-S57.
83. van der Meer SB, Spaapen LJ, Fowler B, Jakobs C, Kleijer WJ, Wendel U. 1990. Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemia. J Pediatr 117: 923-926.
84. Vos AA, Bruinse HW. 2010. Congenital adrenal hyperplasia: do the benefits of prenatal treatment defeat the risks? Obstet Gynecol Surv 65: 196-205.
85. Wallace C, Couch R, Ginsberg J. 1995. Fetal thyrotoxicosis: a case report and recommendations for prediction, diagnosis, and treatment. Thyroid 5: 125-128.
86. Watson WJ, Fiegen MM. 1995. Fetal thyrotoxicosis associated with nonimmune hydrops. Am J Obstet Gynecol 172: 1039-1040.
87. Yokoi K, Ito T, Maeda Y, et al. 2009. A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. Brain Dev 31: 775-778.
88. Younis JS, Granat M. 1987. Insufficient transplacental digoxin transfer in severe hydrops fetalis. Am J Obstet Gynecol 157: 1268-1269.
89. Zass R, Leupold D, Fernandez MA, Wendel U. 1995. Evaluation of prenatal treatment in newborns with cobalamin-responsive methylmalonic acidaemia. J Inherit Metab Dis 18: 100-101.
90. Zhang Y, Yang YL, Hasegawa Y, et al. 2008. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid. Chin Med J (Engl) 121: 216-219.