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68 - Congenital Anomalies and Assisted Reproductive Technology

from PART III - ASSISTED REPRODUCTION

Published online by Cambridge University Press:  04 August 2010

Botros R. M. B. Rizk
Affiliation:
University of South Alabama
Juan A. Garcia-Velasco
Affiliation:
Rey Juan Carlos University School of Medicine,
Hassan N. Sallam
Affiliation:
University of Alexandria School of Medicine
Antonis Makrigiannakis
Affiliation:
University of Crete
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Summary

INTRODUCTION

Assisted reproductive technology (ART) has become the standard of care for the treatment for many types of infertility. In Denmark, 4 percent of all infants are born after in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). It is well established that children born after ART have poorer outcomes than spontaneously conceived children mainly due to the high rate of multiple births and the associated perinatal mortality, preterm birth, and low birth weights. The evidence relating to ART and congenital anomalies will be discussed in this chapter.

Lancaster's study from the late 1980s was the first to report a higher prevalence of neural tube defects and transposition of the great vessels among IVF children (1). Though ART is considered to be relatively safe, recent evidence has shown an increase in the order of 30–40 percent in birth defects among children conceived by ART compared to infants conceived spontaneously (2–4). This enforces the importance of counseling prospective patients effectively.

Many congenital anomalies are noted at birth and some become apparent later in life. Some malformations are incompatible with life, some can be corrected with surgery, and others are compatible with continued life but cannot be corrected with treatment (5). Some malformations are related to prematurity (e.g., patent ductus arteriosus), some to multiple births, and some to infertility itself.

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Publisher: Cambridge University Press
Print publication year: 2008

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References

Lancaster, PA. Obstetric outcome. Clin Obstet Gynaecol 1985; 12(4):847–64.Google ScholarPubMed
Hansen, M, Bower, C, Milne, E, , KN, Kurinczuk, JJ. Assisted reproductive technologies and the risk of birth defects – a systematic review. Hum Reprod 2005; 20(2):328–38.CrossRefGoogle ScholarPubMed
Zhu, JL, Basso, O, Obel, C, Bille, C, Olsen, J. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort. BMJ 2006; 333(7570):679.CrossRefGoogle ScholarPubMed
Kurinczuk, JJ, Hansen, M, Bower, C. The risk of birth defects in children born after assisted reproductive technologies. Curr Opin Obstet Gynecol 2004; 16(3):201–9.CrossRefGoogle ScholarPubMed
Sutcliffe, AG. Health and welfare of ART children. London: Taylor & Francis; 2006.Google Scholar
Ludwig, AK, Sutcliffe, AG, Diedrich, K, Ludwig, M. Post-neonatal health and development of children born after assisted reproduction: a systematic review of controlled studies. Eur J Obstet Gynecol Reprod Biol 2006; 127(1):3–25.CrossRefGoogle ScholarPubMed
Lie, RT, Lyngstadas, A, Orstavik, KH, Bakketeig, LS, Jacobsen, G. Birth defects in children conceived by ICSI with children conceived by other IVF-methods; a meta-analysis. Int J Epidemiol 2005; 34:696–701.CrossRefGoogle ScholarPubMed
Kallen, B, Finnstrom, O, Nygren, KG, Olausson, PO. In vitro fertilization (IVF) in Sweden: infant outcome after different IVF fertilization methods. Fertil Steril 2005; 84(3):611–17.CrossRefGoogle ScholarPubMed
Rimm, AA, Katayama, AC, Diaz, M, Katayama, KP. A meta-analysis of controlled studies comparing major malformation rates in IVF and ICSI infants with naturally conceived children. J Assist Reprod Genet 2004; 21(12):437–43.CrossRefGoogle ScholarPubMed
NICE. National Collaborating Centre for Women's and Children's Health. Fertility: Assessment and treatment for people with fertility problems. Clinical Guideline. London: RCOG Press; 2004.
RCOG. RCOG Infertility Guideline Group. The management of infertility in secondary care. London: RCOG; 1998.
Steptoe, PC, Edwards, RG. Birth after the reimplantation of a human embryo [Letter]. Lancet 1978; 2(8085):366.CrossRefGoogle Scholar
Bonduelle, M, Wennerholm, UB, Loft, A et al. A multi-centre cohort study of the physical health of 5-year-old children conceived after intracytoplasmic sperm injection, in vitro fertilization and natural conception. Hum Reprod 2005; 20(2):413–19.CrossRefGoogle ScholarPubMed
Palermo, G, Joris, H, Devroey, P, Steirteghem, AC. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet 1992; 340:17–18.CrossRefGoogle ScholarPubMed
Pandian, Z, Templeton, A, Serour, G, Bhattacharya, S. Number of embryos for transfer after IVF and ICSI: a Cochrane review. Hum Reprod 2005; 20(10):2681–7.CrossRefGoogle ScholarPubMed
Klemetti, R, Gissler, M, Sevon, T, Koivurova, S, Ritvanen, A, Hemminki, E. Children born after assisted fertilization have an increased rate of major congenital anomalies. Fertil Steril 2005; 84(5):1300–7.CrossRefGoogle ScholarPubMed
Merlob, P, Sapir, O, Sulkes, J, Fisch, B. The prevalence of major congenital malformations during two periods of time, 1986-1994 and 1995-2002 in newborns conceived by assisted reproduction technology. Eur J Med Genet 2005; 48(1):5–11.CrossRefGoogle ScholarPubMed
Olson, CK, Keppler-Noreuil, KM, Romitti, PA et al. In vitro fertilization is associated with an increase in major birth defects. Fertil Steril 2005; 84(5):1308–15.CrossRefGoogle ScholarPubMed
Anthony, S, Buitendijk, SE, Dorrepaal, CA, Lindner, K, Braat, DD, Ouden, AL. Congenital malformations in 4224 children conceived after IVF. Hum Reprod 2002; 17(8):2089–95.CrossRefGoogle ScholarPubMed
Hansen, M, Kurinczuk, JJ, Bower, C, Webb, S. The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N Engl J Med 2002; 346(10):725–30.CrossRefGoogle ScholarPubMed
Isaksson, R, Gissler, M, Tiitinen, A. Obstetric outcome among women with unexplained infertility after IVF: a matched case-control study. Hum Reprod 2002; 17(7):1755–61.CrossRefGoogle ScholarPubMed
Koivurova, S, Hartikainen, AL, Gissler, M, Hemminki, E, Sovio, U, Jarvelin, MR. Neonatal outcome and congenital malformations in children born after in-vitro fertilization. Hum Reprod 2002; 17(5):1391–8.CrossRefGoogle ScholarPubMed
Ericson, A, Kallen, B. Congenital malformations in infants born after IVF: a population-based study. Hum Reprod 2001; 16(3):504–9.CrossRefGoogle ScholarPubMed
Koudstaal, J, Braat, DD, Bruinse, HW, Naaktgeboren, N, Vermeiden, JP, Visser, GH. Obstetric outcome of singleton pregnancies after IVF: a matched control study in four Dutch university hospitals. Hum Reprod 2000; 15(8):1819–1825.CrossRefGoogle ScholarPubMed
Bergh, T, Ericson, A, Hillensjo, T, Nygren, KG, Wennerholm, UB. Deliveries and children born after in-vitro fertilisation in Sweden 1982-95: a retrospective cohort study. Lancet 1999; 354(9190):1579–85.CrossRefGoogle ScholarPubMed
Bowen, JR, Gibson, FL, Leslie, GI, Saunders, DM. Medical and developmental outcome at 1 year for children conceived by intracytoplasmic sperm injection. Lancet 1998; 351(9115):1529–34.CrossRefGoogle ScholarPubMed
D'Souza, SW, Rivlin, E, Cadman, J, Richards, B, Buck, P, Lieberman, BA. Children conceived by in vitro fertilisation after fresh embryo transfer. Arch Dis Child Fetal Neonatal Ed 1997; 76(2):F70–4.CrossRefGoogle ScholarPubMed
Sutcliffe, AG, D'Souza, SW, Cadman, J, Richards, B, McKinlay, IA, Lieberman, B. Minor congenital anomalies, major congenital malformations and development in children conceived from cryopreserved embryos. Hum Reprod 1995; 10(12):3332–7.CrossRefGoogle ScholarPubMed
Sands, AJ, Casey, FA, Craig, BG, Dornan, JC, Rogers, J, Mulholland, HC. Incidence and risk factors for ventricular septal defect in “low risk” neonates. Arch Dis Child Fetal NeonatalEd 1999; 81(1):F61–3.CrossRefGoogle ScholarPubMed
Greenland, S, Ackerman, DL. Clomiphene citrate and neural tube defects: a pooled analysis of controlled epidemiologic studies and recommendations for future studies. Fertil Steril 1995; 64(5):936–41.CrossRefGoogle ScholarPubMed
Lancaster, PAL, Hurst, T, Shafir, E. Congenital malformations and other pregnancy outcome after microinsemination. Reprod Toxicol 2000; 14:74.Google Scholar
Bonduelle, M, Liebaers, I, Deketelaere, V et al. Neonatal data on a cohort of 2889 infants born after ICSI (1991-1999) and of 2995 infants born after IVF (1983-1999). Hum Reprod 2002; 17(3):671–94.CrossRefGoogle Scholar
Bonduelle, M, Wilikens, A, Buysse, A et al. Prospective follow-up study of 877 children born after intracytoplasmic sperm injection (ICSI), with ejaculated epididymal and testicular spermatozoa and after replacement of cryopreserved embryos obtained after ICSI. Hum Reprod 1996; 11 (Suppl. 4):131–55.CrossRefGoogle Scholar
Katalinic, A, Rösch, C, Ludwig, M. Pregnancy course and outcome after intracytoplasmic sperm injection (ICSI) – a controlled, prospective cohort study. Fertil Steril 2004; 81:1604–16.CrossRefGoogle ScholarPubMed
Ludwig, M, Katalinic, A. Malformation rate in fetuses and children conceived after ICSI: results of a prospective cohort study. Reprod Biomed Online 2002; 5(2):171–8.CrossRefGoogle ScholarPubMed
Sutcliffe, AG, Taylor, B, Saunders, K, Thornton, S, Lieberman, BA, Grudzinskas, JG. Outcome in the second year of life after in-vitro fertilisation by intracytoplasmic sperm injection: a UK case-control study. Lancet 2001; 357(9274):2080–4.CrossRefGoogle ScholarPubMed
Wennerholm, UB, Bergh, C, Hamberger, L et al. Incidence of congenital malformations in children born after ICSI. Hum Reprod 2000; 15(4):944–8.CrossRefGoogle ScholarPubMed
Sweet, RA, Schrott, HG, Kurland, R, Culp, OS. Study of the incidence of hypospadias in Rochester, Minnesota, 1940-1970, and a case-control comparison of possible etiologic factors. Mayo Clin Proc 1974; 49(1):52–8.Google Scholar
Hughes, E, Collins, J, Vandekerckhove, P. Clomiphene citrate for unexplained subfertility in women. Cochrane Database Syst Rev 2000;(2):CD000057.CrossRefGoogle ScholarPubMed
Hughes, EG. The effectiveness of ovulation induction and intrauterine insemination in the treatment of persistent infertility: a meta-analysis. Hum Reprod 1997; 12(9):1865–72.CrossRefGoogle ScholarPubMed
Verhulst, SM, Cohlen, BJ, Hughes, E, Te, VE, Heineman, MJ. Intra-uterine insemination for unexplained subfertility. Cochrane Database Syst Rev 2006;(4):CD001838.CrossRefGoogle ScholarPubMed
Pandian, Z, Bhattacharya, S, Vale, L, Templeton, A. In vitro fertilisation for unexplained subfertility. Cochrane Database Syst Rev 2005;(2):CD003357.CrossRefGoogle ScholarPubMed
Horsthemke, B, Ludwig, M. Assisted reproduction: the epigenetic perspective. Hum Reprod Update 2005; 11(5):473–82.CrossRefGoogle ScholarPubMed
Sutcliffe, AG, Peters, CJ, Bowdin, S et al. Assisted reproductive therapies and imprinting disorders – a preliminary British survey. Hum Reprod 2006; 21(4):1009–11.CrossRefGoogle ScholarPubMed
Chang, AS, Moley, KH, Wangler, M, Feinberg, AP, Debaun, MR. Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients. Fertil Steril 2005; 83(2):349–54.CrossRefGoogle ScholarPubMed
Martin, BM, Welch, HG. Probabilities for singleton and multiple pregnancies after in vitro fertilization. Fertil Steril 1998; 70(3):478–81.CrossRefGoogle ScholarPubMed
Ludwig, AK, Sutcliffe, AG, Diedrich, K, Ludwig, M. Post-neonatal health and development of children born after assisted reproduction: a systematic review of controlled studies. Eur J Obstet Gynecol Reprod Biol 2006; 127(1):3–25.CrossRefGoogle ScholarPubMed
Park, SM, Mathur, R, Smith, GC. Congenital anomalies after treatment for infertility. BMJ 2006; 333(7570):665–66.CrossRefGoogle ScholarPubMed
Bower, C, Hansen, M. Assisted reproductive technologies and birth outcomes: overview of recent systematic reviews. Reprod Fertil Dev 2005; 17(3):329–33.CrossRefGoogle ScholarPubMed
Helmerhorst, FM, Perquin, DA, Donker, D, Keirse, MJ. Perinatal outcome of singletons and twins after assisted conception: a systematic review of controlled studies. BMJ 2004; 328(7434):261.CrossRefGoogle ScholarPubMed
Wood, NS, Costeloe, K, Gibson, AT, Hennessy, EM, Marlow, N, Wilkinson, AR. The EPICure study: associations and antecedents of neurological and developmental disability at 30 months of age following extremely preterm birth. Arch Dis Child Fetal Neonatal Ed 2005; 90(2):F134–40.CrossRefGoogle ScholarPubMed
Pinborg, A, Loft, A, Nyboe, AA. Neonatal outcome in a Danish national cohort of 8602 children born after in vitro fertilization or intracytoplasmic sperm injection: the role of twin pregnancy. Acta Obstet Gynecol Scand 2004; 83(11):1071–8.CrossRefGoogle ScholarPubMed
Templeton, A, Morris, JK. Reducing the risk of multiple births by transfer of two embryos after in vitro fertilization. N Engl J Med 1998; 339(9):573–7.CrossRefGoogle ScholarPubMed
Nyboe, AA, Gianaroli, L, Felderbaum, R, Mouzon, J, Nygre, KG. Assisted reproductive technology in Europe, 2001: results generated from European registers by ESHRE. Hum Reprod 2005; 20:1158–76.Google Scholar
Sills, ES, Moomjy, M, Zaninovic, N et al. Human zona pellucida micromanipulation and monozygotic twinning frequency after IVF. Hum Reprod 2000; 15(4):890–5.CrossRefGoogle ScholarPubMed
Cohen, J. Assisted hatching of human embryos. J In Vitro Fert Embryo Transf 1991; 8(4):179–90.CrossRefGoogle ScholarPubMed
Harris, J, Kallen, B, Robert, E. Descriptive epidemiology of alimentary tract atresia. Teratology 1995; 52(1):15–29.CrossRefGoogle ScholarPubMed
Jacobs, PA, Browne, C, Gregson, N, Joyce, C, White, H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992; 29(2):103–8.CrossRefGoogle ScholarPubMed
Kovalevsky, G, Rinuado, P, Coutifaris, C. Do assisted reproductive technologies cause adverse fetal outcomes?Fertil Steril 2003; 79(6):1270–2.CrossRefGoogle ScholarPubMed
Ghazi, HA, Spielberger, C, Kallen, B. Delivery outcome after infertility—a registry study. Fertil Steril 1991; 55(4):726–32.CrossRefGoogle Scholar
Harper, JC, Boelaert, K, Geraedts, J et al. ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum Reprod 2006; 21(1):3–21.CrossRefGoogle ScholarPubMed

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