Abstract
In order to evaluate the utility of genetic counseling at the time of first trimester screening in patients with no previously identified genetic concerns, we reviewed family history data for 700 women seen for genetic counseling in Utah during 2005–2006. The mean maternal age was 35 years (Range: 16–47 years). The majority of patients seen were non-Jewish Caucasians (90.8%, 634/700). A three-generation pedigree was obtained from each woman by one of two certified genetic counselors and subsequently classified as “negative” (no birth defects/genetic disorders); “positive” (birth defect or genetic condition with a minimal/low risk of recurrence; additional evaluation/genetic testing during pregnancy not indicated); or “significant” (birth defect or genetic condition with an increased risk of recurrence; additional evaluation/genetic testing during the pregnancy indicated). About 72% (501/700) of the histories were negative, 19% (134/700) were positive, and about 9% (65/700) were significant. Among patients with significant family histories, 66% (n = 43) were women less than 35 years of age. We conclude that assessing a patient’s family history at the time of first trimester serum screening is a valuable resource for pregnancy management.
Similar content being viewed by others
References
Practice Bulletin, A.C.O.G. (2007). Screening for fetal chromosome abnormalities. Obstetrics and Gynecology, 109, 217–227.
Cleary-Goldman, J., Morgan, M. A., Malone, F. D., Robinson, J. N., D’Alton, M. E., & Schulkin, J. (2006). Screening for down syndrome: practice patterns and knowledge of obstetricians and gynecologists. Obstetrics and Gynecology, 107, 11–17.
Cohn, G. M., Miller, R. C., Gould, M., Macri, C. J., & Gimovsky, M. L. (1999). Impact of genetic counseling on primary and preventive care in obstetrics and gynecology. The Journal of Reproductive Medicine, 44, 7–10.
Holzgreve, B., Holzgreve, W., & Golbus, M. S. (1983). The relevance of pre-amniocentesis pedigree analysis and genetic counseling. Clinical Genetics, 24, 429–433.
Langer, A., & Kudart, E. (1990). Construction of a family pedigree in genetic counseling before amniocentesis. The Journal of Reproductive Medicine, 35, 715–718.
Malone, F. D., Canick, J. A., Ball, R., Nyberg, D. A., Comstock, C. H., Bukowski, R., et al. (2005). First-trimester or second-trimester screening, or both, for Down's syndrome. The New England Journal of Medicine, 353, 2001–2011.
Meschede, D., Albersmann, S., & Horst, J. (2000). The practical importance of pedigree analysis in women considering invasive prenatal diagnosis for advanced maternal age or abnormal serum screening tests. Prenatal Diagnosis, 20, 865–869.
Rubin, S. P., Malin, J., & Maidman, J. (1983). Genetic counseling before prenatal diagnosis for advanced maternal age: an important medical safeguard. Obstetrics and Gynecology, 62, 155–159.
Wray, M. A., Ghidini, A., Alvis, C., Hodor, J., Landy, H. J., & Poggi, S. H. (2005). The impact of first-trimester screening on AMA patients’ uptake of invasive testing. Prenatal Diagnosis, 25, 350–353.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Hafen, L.B., Hulinsky, R.S., Ellis Simonsen, S. et al. The Utility of Genetic Counseling Prior to Offering First Trimester Screening Options. J Genet Counsel 18, 395–400 (2009). https://doi.org/10.1007/s10897-009-9230-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-009-9230-3