Warning message

This content is filtered. APPPAH membership is required for full access to journal articles.
-A +A
Publication Date: 
March, 2019
Page Count: 
Starting Page: 
Brief Summary: 

This article discusses the insights gathered from a study on whether genetic counseling was helpful for expectant parents in their decision-making following a prenatal diagnosis of anencephaly.


Genetic counselors may meet with expectant parents to facilitate decision making following prenatal diagnosis of anencephaly. Factors that contribute to pregnancy management decisions and the perceived helpfulness of genetic counseling in this patient population are not fully understood. Women and their male partners who previously received a prenatal diagnosis of anencephaly completed mixed-methods questionnaires to assess decision-making factors and the impact of genetic counseling. Lethality of the anomaly and religious and ethical views factored most into pregnancy management decisions. Over half of participants met with a genetic counselor; however nearly one-third did not find the meeting helpful. Genetic counselors may need to prioritize psychosocial support and provision of resources to meet the needs of expectant couples receiving a prenatal diagnosis of anencephaly.


Allen, J.S., & Mulhauser, L.C. (1995). Genetic counseling after abnormal prenatal diagnosis: Facilitating coping in families who continue their pregnancies. J Genet Couns, 4(4), 251-265.

Austin, J.C., & Honer, W.G. (2008). Psychiatric genetic counselling for parents of individuals affected with psychotic disorders: A pilot study. Early Interv Psychiatry, 2(2), 80-89. doi:10.1111/j.1751-7893.2008.00062.x

Brondino, N., Colombini, G., Morandotti, N., Podavini, F., De Vidovich, G., Formica, M., & Caverzasi, E. (2013). Psychological correlates of decision-making during prenatal diagnosis: A prospective study. J Psychosom Obstet Gynaecol, 34(2), 68-74. doi:10.3109/0167482X.2013.797404

Chaplin, J., Schweitzer, R., & Perkoulidis, S. (2005). Experiences of prenatal diagnosis of spina bifida or hydrocephalus in parents who decide to continue with their pregnancy. J Genet Couns, 14(2), 151-162. doi:10.1007/s10897-005-0488-9

Chen, X., An, Y., Gao, Y., Guo, L., Rui, L., Xie, H., . . . Zhang, T. (2017). Rare deleterious PARD3 variants in the aPKC-binding tegion are implicated in the pathogenesis of human cranial neural tube defects via disrupting apical tight junction formation. Hum Mutat, 38(4), 378-389. doi:10.1002/humu.23153

Cope, H., Garrett, M.E., Gregory, S., & Ashley-Koch, A. (2015). Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome. Prenat Diagn, 35(8), 761-768. doi:10.1002/pd.4603

Creamer, M., Bell, R., & Failla, S. (2003). Psychometric properties of the Impact of Event Scale - Revised. Behav Res Ther, 41(12), 1489-1496.

Detrait, E.R., George, T.M., Etchevers, H.C., Gilbert, J.R., Vekemans, M., & Speer, M.C. (2005). Human neural tube defects: Developmental biology, epidemiology, and genetics. Neurotoxicol Teratol, 27(3), 515-524. doi:10.1016/j.ntt.2004.12.007

Goetzinger, K.R., Stamilio, D.M., Dicke, J.M., Macones, G.A., & Odibo, A.O. (2008). Evaluating the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central nervous system malformations. Am J Obstet Gynecol, 199(3), 285 e281-286. doi:10.1016/j.ajog.2008.06.100

Hampel, H., Grubs, R.E., Walton, C.S., Nguyen, E., Breidenbach, D.H., Nettles, S., . . . Weik, L. (2009). Genetic counseling practice analysis. J Genet Couns, 18(3), 205-216. doi:10.1007/s10897-009-9216-1

Hawkins, A., Stenzel, A., Taylor, J., Chock, V.Y., & Hudgins, L. (2013). Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalities. J Genet Couns, 22(2), 238-248. doi:10.1007/s10897-012-9539-1

Johnson, C.Y., Honein, M.A., Dana Flanders, W., Howards, P.P., Oakley, G.P., Jr., & Rasmussen, S.A. (2012). Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: A systematic review of the literature. Birth Defects Res A Clin Mol Teratol, 94(11), 857-863. doi:10.1002/bdra.23086

Joo, J.G., Beke, A., Papp, Z., Csaba, A., Rab, A., & Papp, C. (2007). Risk of recurrence in major central nervous system malformations between 1976 and 2005. Prenat Diagn, 27(11), 1028-1032. doi:10.1002/pd.1827

Kalb, F.M., Vincent, V., Herzog, T., & Austin, J. (2017). Genetic counseling for alcohol addiction: Assessing perceptions and potential utility in individuals with lived experience and their family members. J Genet Couns, 26(5), 963-970. doi:10.1007/s10897-017-0075-x

Koenig, H.G., & Bussing, A. (2010). The Duke University Religion Index (DUREL): A five-item measure for use in epidemological studies. Religions, 1(1), 78-85. doi:10.3390/rel1010078

LaBar, K.S., & Cabeza, R. (2006). Cognitive neuroscience of emotional memory. Nat Rev Neurosci, 7(1), 54-64. doi:10.1038/nrn1825

Nell, S., Wijngaarde, C.A., Pistorius, L.R., Slieker, M., ter Heide, H., Manten, G.T., & Freund, M.W. (2013). Fetal heart disease: Severity, associated anomalies and parental decision. Fetal Diagn Ther, 33(4), 235-240. doi:10.1159/000346564

Pryde, P.G., Isada, N.B., Hallak, M., Johnson, M.P., Odgers, A.E., & Evans, M.I. (1992). Determinants of parental decision to abort or continue after non-aneuploid ultrasound-detected fetal abnormalities. Obstet Gynecol, 80(1), 52-56.

Redlinger-Grosse, K., Bernhardt, B.A., Berg, K., Muenke, M., & Biesecker, B.B. (2002a). The decision to continue: The experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. Am J Med Genet, 112(4), 369-378. doi:10.1002/ajmg.10657

Redlinger-Grosse, K., Bernhardt, B.A., Berg, K., Muenke, M., & Biesecker, B.B. (2002b). The decision to continue: The experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. American Journal of Medical Genetics, 112(4), 369-378. doi:10.1002/ajmg.10657

Schechtman, K.B., Gray, D.L., Baty, J.D., & Rothman, S.M. (2002). Decision-making for termination of pregnancies with fetal anomalies: Analysis of 53,000 pregnancies. Obstet Gynecol, 99(2), 216-222.

Shaffer, B.L., Caughey, A.B., & Norton, M.E. (2006). Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenat Diagn, 26(8), 667-671. doi:10.1002/pd.1462

Steer, R.A., Clark, D.A., Beck, A.T., & Ranieri, W.F. (1999). Common and specific dimensions of self-reported anxiety and depression: The BDI-II versus the BDI-IA. Behav Res Ther, 37(2), 183-190.

Toedter, L.J., Lasker, J.N., & Janssen, H.J. (2001). International comparison of studies using the perinatal grief scale: A decade of research on pregnancy loss. Death Stud, 25(3), 205-228. doi:10.1080/07481180125971

Warren, N.S. (2011). Introduction to the special issue: Toward diversity and cultural competence in genetic counseling. J Genet Couns, 20(6), 543-546. doi:10.1007/s10897-011-9408-3

Weil, J. (2000). Psychosocial genetic counseling. New York: Oxford University Press.

Wilson, R.D., SOGC Genetics Committee, & Special Contributor. (2014). Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. J Obstet Gynaecol Can, 36(10), 927-939. doi:10.1016/S1701-2163(15)30444-8

Wool, C., & Dudek, M. (2013). Exploring the perceptions and the role of genetic counselors in the emerging field of perinatal palliative care. J Genet Couns, 22(4), 533-543. doi:10.1007/s10897-013-9581-7