Abstract
Congenital malformations are a common cause of illness, handicapping conditions, and death. Errors of morphogenesis leading to congenital anomalies have many recognized causes, including specific single-gene mutations, chromosome imbalances, and the action of teratogenic agents. Most congenital anomalies, however, are of multifactorial origin, occurring by complex interactions between not yet well understood genetic and environmental factors. Two to six percent of the newborn babies worldwide, i.e., 3 to 9 million infants a year, suffer from major congenital anomalies and genetic diseases. However, a great deal of this misery could be avoided. In particular, preconception care is more important than prenatal care for prevention of congenital anomalies since as many as 30 percent of pregnant women begin traditional prenatal care in the second trimester (>13 weeks of gestation), which is after the period of maximal organogenesis. Women and their partners whose ethnic background, race, or personal or family history places them at increased risk of having a fetus with a genetic disease should receive appropriate counseling. Furthermore, certain laboratory tests of the infection status of couples may be helpful in assessing the risk for and preventing some complications during pregnancy. Preconception evaluation and appropriate counseling permits parents to make informed reproductive decisions and provides reassurance.
Acknowledgement
This work was supported by the Cluster Research Fund of Hanyang University (HY-2010).
References
1. Moos MK, Cefalo RC. Preconceptional health promotion: a focus for obstetric care. Am J Perinatol. 1987. 4:63–67.
2. Adams MM, Bruce FC, Shulman HB, Kendrick JS, Brogan DJ. The PRAMS Working Group. Pregnancy planning and pre-conception counseling. Obstet Gynecol. 1993. 82:955–959.
3. Koh KS, Kim A, Yang SH, Han JY, Kim ES, Kim MY, Yang JH, Park KH, Kim SS, Yoon BH. Multi-center study for birth defects monitoring systems in Korea. Korean J Obstet Gynecol. 2001. 44:1609–1616.
4. Kourtis AP, Bulterys M. Mother-to-child transmission of HIV: pathogenesis, mechanisms and pathways. Clin Perinatol. 2010. 37:721–737. vii
5. Mofenson LM. Centers for Disease Control and Prevention, U.S. Public Health Service Task Force. U.S. Public Health Service Task Force recommendations for use of antiretroviral drugs in pregnant HIV-1-infected women for maternal health and interventions to reduce perinatal HIV-1 transmission in the United States. MMWR Recomm Rep. 2002. 51(RR-18):1–38.
6. Hawkins D, Blott M, Clayden P, de Ruiter A, Foster G, Gilling-Smith C, Gosrani B, Lyall H, Mercey D, Newell ML, O'Shea S, Smith R, Sunderland J, Wood C, Taylor G. BHIVA Guidelines Writing Committee. Guidelines for the management of HIV infection in pregnant women and the prevention of mother-to-child transmission of HIV. HIV Med. 2005. 6:Suppl 2. 107–148.
7. Gunn RA, Lee MA, Callahan DB, Gonzales P, Murray PJ, Margolis HS. Integrating hepatitis, STD, and HIV services into a drug rehabilitation program. Am J Prev Med. 2005. 29:27–33.
8. Zanetti AR, Tanzi E, Newell ML. Mother-to-infant transmission of hepatitis C virus. J Hepatol. 1999. 31:Suppl 1. 96–100.
9. Stagno S, Pass RF, Cloud G, Britt WJ, Henderson RE, Walton PD, Veren DA, Page F, Alford CA. Primary cytomegalovirus infection in pregnancy. Incidence, transmission to fetus, and clinical outcome. JAMA. 1986. 256:1904–1908.
10. Onorato IM, Morens DM, Martone WJ, Stansfield SK. Epidemiology of cytomegaloviral infections: recommendations for prevention and control. Rev Infect Dis. 1985. 7:479–497.
11. Enders M, Weidner A, Zoellner I, Searle K, Enders G. Fetal morbidity and mortality after acute human parvovirus B19 infection in pregnancy: prospective evaluation of 1018 cases. Prenat Diagn. 2004. 24:513–518.
13. Regan JA, Klebanoff MA, Nugent RP, Eschenbach DA, Blackwelder WC, Lou Y, Gibbs RS, Rettig PJ, Martin DH, Edelman R. VIP Study Group. Colonization with group B streptococci in pregnancy and adverse outcome. Am J Obstet Gynecol. 1996. 174:1354–1360.
14. U.S. Preventive Services Task Force. Screening for gonorrhea: recommendation statement. Ann Fam Med. 2005. 3:263–267.
15. Screening for gonorrhea [Internet]. cited 2011 Jul 8. Rockville (MD): US Preventive Services Task Force;Available from: http://www.ahrq.gov/clinic/uspstf/uspsgono.htm.
16. US Preventive Services Task Force. Screening for chlamydial infection: recommendations and rationale. Am J Prev Med. 2001. 20:3 Suppl. 90–94.
17. Screening for chlamydial infection [Internet]. cited 2011 Jul 8. Rockville (MD): US Preventive Services Task Force;Available from: http://www.ahrq.gov/clinic/uspstf/uspschlm.htm.
18. Workowski KA, Berman SM. Centers for Disease Control and Prevention. Sexually transmitted diseases treatment guidelines, 2006. MMWR Recomm Rep. 2006. 55(RR-11):1–94.
19. Gupta R, Wald A, Krantz E, Selke S, Warren T, Vargas-Cortes M, Miller G, Corey L. Valacyclovir and acyclovir for suppression of shedding of herpes simplex virus in the genital tract. J Infect Dis. 2004. 190:1374–1381.
20. Xu F, Sternberg MR, Kottiri BJ, McQuillan GM, Lee FK, Nahmias AJ, Berman SM, Markowitz LE. Trends in herpes simplex virus type 1 and type 2 seroprevalence in the United States. JAMA. 2006. 296:964–973.
21. Krick JA, Remington JS. Toxoplasmosis in the adult: an overview. N Engl J Med. 1978. 298:550–553.
22. Fuccillo DA, Madden DL, Tzan N, Sever JL. Difficulties associated with serological diagnosis of Toxoplasma gondii infections. Diagn Clin Immunol. 1987. 5:8–13.
23. Kim YJ, Choi HM, Suh WH, Han TH. A case of malarial infection in pregnancy. Korean J Obstet Gynecol. 2003. 46:820–824.
24. Koren G, Matsui D, Bailey B. DEET-based insect repellents: safety implications for children and pregnant and lactating women. CMAJ. 2003. 169:209–212.
25. Ward SA, Sevene EJ, Hastings IM, Nosten F, McGready R. Antimalarial drugs and pregnancy: safety, pharmacokinetics, and pharmacovigilance. Lancet Infect Dis. 2007. 7:136–144.
26. Greenwood B, Alonso P, ter Kuile FO, Hill J, Steketee RW. Malaria in pregnancy: priorities for research. Lancet Infect Dis. 2007. 7:169–174.
27. Lumbiganon P, Laopaiboon M, Thinkhamrop J. Screening and treating asymptomatic bacteriuria in pregnancy. Curr Opin Obstet Gynecol. 2010. 22:95–99.
28. Lopez NJ, Smith PC, Gutierrez J. Periodontal therapy may reduce the risk of preterm low birth weight in women with periodontal disease: a randomized controlled trial. J Periodontol. 2002. 73:911–924.
29. McDonald HM, Brocklehurst P, Gordon A. Antibiotics for treating bacterial vaginosis in pregnancy. Cochrane Database Syst Rev. 2007. (1):CD000262.
30. McGregor JA, French JI, Parker R, Draper D, Patterson E, Jones W, Thorsgard K, McFee J. Prevention of premature birth by screening and treatment for common genital tract in-fections: results of a prospective controlled evaluation. Am J Obstet Gynecol. 1995. 173:157–167.
31. Joesoef MR, Hillier SL, Wiknjosastro G, Sumampouw H, Linnan M, Norojono W, Idajadi A, Utomo B. Intravaginal clindamycin treatment for bacterial vaginosis: effects on preterm delivery and low birth weight. Am J Obstet Gynecol. 1995. 173:1527–1531.
32. Park SK, Kang D, Park S, Kang DY, Park B, Kim S, Ma SH, Sung H, Park BJ. The role of scientific evidence in the management of high-risk groups using genetic information. J Korean Med Assoc. 2011. 54:266–274.
33. Rappaport VJ. Prenatal diagnosis and genetic screening: integration into prenatal care. Obstet Gynecol Clin North Am. 2008. 35:435–458. ix
34. Cefalo RC, Bowes WA Jr, Moos MK. Preconception care: a means of prevention. Baillieres Clin Obstet Gynaecol. 1995. 9:403–416.
35. Dolan SM, Moore C. Linking family history in obstetric and pediatric care: assessing risk for genetic disease and birth defects. Pediatrics. 2007. 120:Suppl 2. S66–S70.
36. Vallance H, Ford J. Carrier testing for autosomal-recessive disorders. Crit Rev Clin Lab Sci. 2003. 40:473–497.
37. Gottesman MM. Preconception education: caring for the future. J Pediatr Health Care. 2004. 18:40–44.