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Published in: Maternal and Child Health Journal 1/2006

Open Access 01-09-2006 | Original Paper

Genetic Risks to the Mother and the Infant: Assessment, Counseling, and Management

Authors: Stuart K. Shapira, Siobhan Dolan

Published in: Maternal and Child Health Journal | Special Issue 1/2006

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Excerpt

In order to optimize the chance for a healthy pregnancy and baby, a woman’s risk factors related to a variety of health issues (diet, medications, and exposures) are generally examined, allowing for required modifications during preconception care [1]. This activity can help prevent some birth defects and some adverse birth outcomes, such as prematurity. In contrast, genetic factors result in conditions often perceived to be rare, and thus most women without a family history of birth defects or genetic conditions do not consider themselves at risk. Regardless, a full range of genetic issues should always be considered preconceptionally to improve the chance for a healthy birth outcome. …
Literature
1.
go back to reference American College of Obstetricians and Gynecologists. The importance of preconception care in the continuum of women’s health care. ACOG committee opinion 313. Washington, DC: ACOG; 2005. American College of Obstetricians and Gynecologists. The importance of preconception care in the continuum of women’s health care. ACOG committee opinion 313. Washington, DC: ACOG; 2005.
2.
go back to reference Czeizel AE. Ten years of experience in the periconceptional care. Eur J Obstet Gynec Reprod Biol 1999;89:43–9.CrossRef Czeizel AE. Ten years of experience in the periconceptional care. Eur J Obstet Gynec Reprod Biol 1999;89:43–9.CrossRef
3.
go back to reference Czeizel AE, Gasztonyi Z, Kuliev A. Periconceptional clinics: a medical health care infrastructure of new genetics. Fetal Diagn Ther 2005;20:515–8.PubMedCrossRef Czeizel AE, Gasztonyi Z, Kuliev A. Periconceptional clinics: a medical health care infrastructure of new genetics. Fetal Diagn Ther 2005;20:515–8.PubMedCrossRef
4.
go back to reference Myrianthopoulos NC, Chung CS. Congenital malformations in singletons: epidemiologic survey. Report from the Collaborative Perinatal project. Birth Defects Orig Artic Ser 1974;10:1–58.PubMed Myrianthopoulos NC, Chung CS. Congenital malformations in singletons: epidemiologic survey. Report from the Collaborative Perinatal project. Birth Defects Orig Artic Ser 1974;10:1–58.PubMed
5.
go back to reference Christianson RE, van den Berg BJ, Milkovich L, Oechsli FW. Incidence of congenital anomalies among white and black live births with long term follow-up. Am J Pub Health 1981;71:1333–41.PubMedCrossRef Christianson RE, van den Berg BJ, Milkovich L, Oechsli FW. Incidence of congenital anomalies among white and black live births with long term follow-up. Am J Pub Health 1981;71:1333–41.PubMedCrossRef
6.
go back to reference Van Regemorter N, Dodion J, Druart C, Hayez F, Vamos E, Flament-Durand J, Perlmutter-Cremer N, Rodesh F. Congenital malformations in 10,000 consecutive births in a university hospital: need for genetic counseling and prenatal diagnosis. J Pediatr 1984;104:386–90.PubMedCrossRef Van Regemorter N, Dodion J, Druart C, Hayez F, Vamos E, Flament-Durand J, Perlmutter-Cremer N, Rodesh F. Congenital malformations in 10,000 consecutive births in a university hospital: need for genetic counseling and prenatal diagnosis. J Pediatr 1984;104:386–90.PubMedCrossRef
7.
go back to reference Balkite EA, Puck SM. Prenatal genetic risk assessment: A guide for health professionals. Cambridge, MA: Genzyme Genetics, Genzyme Corporation; 2003. Balkite EA, Puck SM. Prenatal genetic risk assessment: A guide for health professionals. Cambridge, MA: Genzyme Genetics, Genzyme Corporation; 2003.
8.
go back to reference de Weerd S, van der Bij AK, Cikot RJLM, Braspenning JCC, Braat DDM, Steegers EAP. Preconception care: a screening tool for health assessment and risk detection. Prev Med 2002;34:505–11.PubMedCrossRef de Weerd S, van der Bij AK, Cikot RJLM, Braspenning JCC, Braat DDM, Steegers EAP. Preconception care: a screening tool for health assessment and risk detection. Prev Med 2002;34:505–11.PubMedCrossRef
9.
go back to reference Program ME. Genetic risk screening office guide. Scarborough, ME: Foundation for Blood Research; 1998. Program ME. Genetic risk screening office guide. Scarborough, ME: Foundation for Blood Research; 1998.
12.
go back to reference American College of Medical Genetics. Fragile X syndrome: Diagnostic and carrier testing. Working group of the genetic screening subcommittee of the clinical practice committee. Bethesda, MD: ACMG; 1994. American College of Medical Genetics. Fragile X syndrome: Diagnostic and carrier testing. Working group of the genetic screening subcommittee of the clinical practice committee. Bethesda, MD: ACMG; 1994.
13.
go back to reference American College of Obstetricians and Gynecologists. Fragile X syndrome. ACOG committee opinion 161. Washington, DC: ACOG; 1995. American College of Obstetricians and Gynecologists. Fragile X syndrome. ACOG committee opinion 161. Washington, DC: ACOG; 1995.
14.
go back to reference American College of Obstetricians and Gynecologists. Prenatal and preconceptional carrier screening for genetic diseases in individuals of eastern European Jewish descent. ACOG committee opinion 298. Washington, DC: ACOG; 2004. American College of Obstetricians and Gynecologists. Prenatal and preconceptional carrier screening for genetic diseases in individuals of eastern European Jewish descent. ACOG committee opinion 298. Washington, DC: ACOG; 2004.
15.
go back to reference Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994;4:167–77.CrossRef Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994;4:167–77.CrossRef
16.
go back to reference American College of Obstetricians and Gynecologists. Genetic screening for hemoglobinopathies. ACOG committee opinion 238. Washington, DC: ACOG; 2000. American College of Obstetricians and Gynecologists. Genetic screening for hemoglobinopathies. ACOG committee opinion 238. Washington, DC: ACOG; 2000.
17.
go back to reference American College of Obstetricians and Gynecologists. Prenatal diagnosis of fetal chromosomal abnormalities. ACOG practice bulletin 27. Washington, DC: ACOG; 2001. American College of Obstetricians and Gynecologists. Prenatal diagnosis of fetal chromosomal abnormalities. ACOG practice bulletin 27. Washington, DC: ACOG; 2001.
18.
go back to reference Crow JF. The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 2000;1:40–7.PubMedCrossRef Crow JF. The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 2000;1:40–7.PubMedCrossRef
19.
go back to reference Rolf C, Nieschlag E. Reproductive functions, fertility and genetic risks of ageing men. Exp Clin Endocrinol Diabetes 2001;109:68–74.PubMedCrossRef Rolf C, Nieschlag E. Reproductive functions, fertility and genetic risks of ageing men. Exp Clin Endocrinol Diabetes 2001;109:68–74.PubMedCrossRef
20.
go back to reference American College of Medical Genetics. Statement on guidance for genetic counseling in advanced paternal age. ACMG Newsletter 1996;6:13. American College of Medical Genetics. Statement on guidance for genetic counseling in advanced paternal age. ACMG Newsletter 1996;6:13.
21.
go back to reference Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980;303:1202–8.PubMedCrossRef Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980;303:1202–8.PubMedCrossRef
22.
go back to reference Drogari E, Smith I, Beasley M, Lloyd JK. Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register. Lancet 1987;2:927–30.PubMedCrossRef Drogari E, Smith I, Beasley M, Lloyd JK. Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register. Lancet 1987;2:927–30.PubMedCrossRef
23.
go back to reference Johnson J, Giles RT, Larsen L, Ware J, Adams T, Hunt SC. Utah’s family high risk program: bridging the gap between genomics and public health. Prev Chronic Dis 2005;2:A24–30.PubMed Johnson J, Giles RT, Larsen L, Ware J, Adams T, Hunt SC. Utah’s family high risk program: bridging the gap between genomics and public health. Prev Chronic Dis 2005;2:A24–30.PubMed
24.
go back to reference Tyagi A, Morris J. Using decision analytic methods to assess the utility of family history tools. Am J Prev Med 2003;24:199–207.PubMedCrossRef Tyagi A, Morris J. Using decision analytic methods to assess the utility of family history tools. Am J Prev Med 2003;24:199–207.PubMedCrossRef
Metadata
Title
Genetic Risks to the Mother and the Infant: Assessment, Counseling, and Management
Authors
Stuart K. Shapira
Siobhan Dolan
Publication date
01-09-2006
Publisher
Springer US
Published in
Maternal and Child Health Journal / Issue Special Issue 1/2006
Print ISSN: 1092-7875
Electronic ISSN: 1573-6628
DOI
https://doi.org/10.1007/s10995-006-0099-6

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