nach oben

Journal of Genetic Counseling

Erschienen in:

01.04.2013 | Original Research

Variables Influencing Pregnancy Termination Following Prenatal Diagnosis of Fetal Chromosome Abnormalities

verfasst von: Anne Hawkins, Ana Stenzel, Joanne Taylor, Valerie Y. Chock, Louanne Hudgins

Erschienen in: Journal of Genetic Counseling | Ausgabe 2/2013

Einloggen, um Zugang zu erhalten

Abstract

The objective of this study was to identify variables that may influence the decision to terminate or continue a pregnancy affected by a chromosome abnormality. We performed a retrospective cohort analysis of 286 pregnancies diagnosed with a chromosome abnormality following genetic counseling and prenatal diagnosis. Data obtained included procedure type, chromosome results, ethnicity, maternal age, use of fertility treatments, and uptake of genetic counseling after results, among other factors. Wilcoxon rank sum test, Fisher’s exact test, and univariate and multivariate logistic regression models were used for data analysis. The overall termination rate in this study was 82.9 %. A lower likelihood to terminate was found in pregnancies with a diagnosis of a sex chromosome abnormality (OR 0.05, p < .0001), Filipina race (OR 0.10, p = .03), and uptake of second genetic counseling session (OR 0.05, p < .0001). Prior history of termination was associated with increased likelihood to terminate (OR 8.6, p = .02). Factors revealing no statistically significant association with termination included maternal age, gestational age, clinic site, fetal gender, ultrasound anomalies, reason for referral and who informed the patient. Our data affirm the complexity of the decision making process and reinforce that providers should refrain from making assumptions regarding a patient’s likelihood to terminate based on factors such as maternal age, gestational age, type of procedure, or ultrasound.

Ahmed, S., Hewson, J., Green, J., Cuckle, H., Hirst, J., & Thornton, J. (2008). Decisions about testing and termination of pregnancy for different fetal conditions: a qualitative study of European white and Pakistani mothers of affected children. Journal of Genetic Counseling, 17, 560–572.PubMedCrossRef

Ashoor, G., Argyro Syngelaki, R. M., Wagner, M., Birdie, C., & Nicolaides, K. (2012). Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy and trisomy 18. American Journal of Obstetrics and Gynecology, 206(322), 1–5.

Balkan, M., Kalkanli, S., Akbas, H., Yalinkaya, A., Alp, M. N., & Budak, T. (2010). Parental decisions regarding a prenatally detected fetal chromosomal abnormality and the impact of genetic counseling: an analysis of 38 cases with aneuploidy in Southeast Turkey. Journal of Genetic Counseling, 19(3), 241–246. PubMed PMID: 20119701.PubMedCrossRef

Benn, P. A., & Chapman, A. R. (2010). Ethical challenges in providing non-invasive prenatal diagnosis. Current Opinion in Obstetrics and Gynecology, 22, 128–134.PubMedCrossRef

Bianchi, D., Platt, L., Goldberg, J., Abuhamad, A., Sehnert, A., & Rava, R. (2012). Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics and Gynecology, 119(5), 890–901.PubMedCrossRef

Britt, D., Risinger, S., Miller, V., Mans, M., Krivchenia, E., & Evans, M. (2000). Determinants of parental decisions after the prenatal diagnosis of Down syndrome: bringing in context. American Journal of Medical Genetics, 93(5), 410–416.PubMedCrossRef

Brun, J.-L., Gangbo, F., Wen, Z., Galant, K., Taine, L., Maugey-Laulom, B., et al. (2004). Prenatal diagnosis and management of sex-chromosome aneuploidy: a report on 98 cases. Prenatal Diagnosis, 24, 213–218.PubMedCrossRef

Chiu, W., Akolekar, R., Zheng, Y., Leung, T., Sun, H., Chan, K. C., et al. (2011). Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: a large scale validity study. British Medical Journal, 342, c7401.PubMedCrossRefPubMedCentral

Choi, H., Van Riper, M., & Thoyre, S. (2012). Decision making following a prenatal diagnosis of Down syndrome: an integrative review. Journal of Midwifery Women’s Health, 57(2), 156–164.PubMedCrossRef

De Jong, A., Dondorp, W., Frints, S., de Die-Smulders, C., & de Wert, G. (2011). Advances in prenatal screening: the ethical dimension. Nature Reviews Genetics, 2, 657–663.CrossRef

Devers, P., Ormond, K., Facio, F., & Brasington, C. (2012). Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. [NSGC Position Statement, adopted February 18, 2012]. Retrieved from https://doi.org/www.nsgc.org/Portals/0/Advocacy/NSGC%20Noninvasive%20Prenatal%20Testing%204-17-2012.pdf.

Drugan, A., Greb, A., Johnson, M. P., Krivchenia, E., Uhlmann, W., Moghissi, K., et al. (1990). Determinants of parental decisions to abort for chromosome abnormalities. Prenatal Diagnosis, 10(8), 483–490. PubMed PMID: 2267225.PubMedCrossRef

Evans, M., Sobiecki, M., Krivchenia, E., Duquette, D., Drugan, A., Hume, R., et al. (1996). Parental decisions to terminate/continue following abnormal cytogenetic prenatal diagnosis: “what” is still more important than “when”. American Journal of Medical Genetics, 61(4), 353–355.PubMedCrossRef

Hall, A., Bostanci, A., & Wright, C. F. (2010). Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications. Public Health Genomics, 13, 246–255.PubMedCrossRef

Hamamy, H., & Dahoun, S. (2003). Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. European Journal of Obstetrics and Gynecology, 116, 58–62.CrossRef

Holmes-Siedle, M., Ryynanen, M., & Lindenbaum, R. H. (1987). Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenatal Diagnosis, 7(4), 239–244.PubMedCrossRef

ISPD Position Statement. (2011). Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011. Prenatal Diagnosis, 31, 519–522.CrossRef

Kobelka, C., Mattman, A., & Langlois, S. (2009). An evaluation of the decision-making process regarding amniocentesis following a screen-positive maternal serum screen result. Prenatal Diagnosis, 29, 514–519.PubMedCrossRef

Korenromp, M., Page-Chrisiaens, G., van den Bout, J., Mulder, E., & Visser, G. (2007). Maternal decision to terminate pregnancy after diagnosis of Down syndrome. American Journal of Obstetrics and Gynecology, 196(2), 149.e1–149e.11.CrossRef

Kramer, R., Jarve, R., Yaron, Y., Johnson, M., Lampinen, J., Kasperski, S., et al. (1998). Determinants of parental decisions after prenatal diagnosis of Down syndrome. American Journal of Medical Genetics, 79, 172–174.PubMedCrossRef

Kupperman, M., Learman, L., Gates, E., Gregorich, S., Nease, R., Lewis, J., et al. (2006). Beyond race or ethnicity and socioeconomic status: predictors of prenatal testing for Down syndrome. Obstetrics and Gynecology, 107(5), 1087–1097.CrossRef

Malone, F. D., Canick, J. A., Ball, R. H., Nyberg, D. A., Comstock, C. H., Bukowski, R., Berkowitz, R., et al. (2005). First trimester or second-trimester screening, or both, for Down’s syndrome. The New England Journal of Medicine, 353(19), 2001–2011.CrossRefPubMed

Mansfield, C., Hopfer, S., & Marteau, T. M. (1999). Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and turner and Klinefelter syndromes: a systemic literature review. Prenatal Diagnosis, 19, 808–812.PubMedCrossRef

Mezei, G., Papp, C., Toth-Pal, E., Beke, A., & Papp, Z. (2004). Factors influencing parental decision making in prenatal diagnosis of sex chromosome aneuploidy. Obstetrics and Gynecology, 104, 94–101.PubMedCrossRef

Morris, J., & Alberman, E. (2009). Trends in Down’s syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down syndrome Cytogenetic Register. British Medical Journal, 339, b3794.PubMedCrossRefPubMedCentral

Natoli, J., Ackerman, D., McDermott, S., & Edwards, J. (2012). Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011). Prenatal Diagnosis, 32, 142–153.PubMedCrossRef

Newson, A. (2008). Ethical aspects arising from non-invasive fetal diagnosis. Seminars in Fetal and Neonatal Medicine, 13(2), 103–108.PubMedCrossRef

Palomaki, G., Kloza, E., Lambert-Messerlian, G., Haddow, J., Neveux, L., Ehrich, M., et al. (2011). DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genetics in Medicine, 13(11), 913–920.PubMedCrossRef

Palomaki, G., Deciu, C., Kloza, E., Lambert-Messerlian, G., Haddow, J., Neveux, L., et al. (2012). DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genetics in Medicine, 14(3), 296–305.PubMedPubMedCentralCrossRef

Perry, S., Woodall, A., & Pressman, E. (2007). Association of ultrasound findings with decision to continue Down syndrome pregnancies. Community Genetics, 10, 227–230.PubMed

Press, N., & Browner, C. (1997) Why women say yes to prenatal diagnosis. Social Science & Medicine, 45(7), 979–989.CrossRef

Pryde, P., Drugan, A., Johnson, M. P., Isada, N. B., & Evans, M. (1993). Prenatal diagnosis: choices women make about pursuing testing and acting on abnormal results. Clinical Obstetrics and Gynecology, 36(3), 496–509.PubMedCrossRef

Quadrelli, R., Quadrelli, A., Mechoso, B., Laufner, M., Jaumandreu, C., & Vaglio, A. (2007). Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available. Prenatal Diagnosis, 27, 228–232.PubMedCrossRef

Schechtman, K., Gray, D., Baty, J., & Rothman, S. (2002). Decision-making for termination of pregnancies with fetal anomalies: analysis of 53,000 pregnancies. Obstetrics and Gynecology, 99(2).

Seror, V., & Ville, Y. (2010). Women’s attitudes to the successive decisions possibly involved in prenatal screening for Down syndrome: how consistent with their actual decisions? Prenatal Diagnosis, 30, 1086–1093.PubMedCrossRef

Shaffer, B., Caughey, A., & Norton, M. (2006). Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenatal Diagnosis, 26(8), 667–671.PubMedCrossRef

Skotko, B. (2009). With new prenatal testing, will babies with Down syndrome slowly disappear? Archives of Disease in Childhood, 94(11), 823–826.PubMedCrossRef

Sparks, A., Wang, E., Struble, C., Barrett, W., Stokowski, R., McBride, C., et al. (2010). Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenatal Diagnosis, 32, 3–9.CrossRef

Verp, M., Bombard, A., Simpson, J., & Elias, S. (1988). Parental decision following prenatal diagnosis of fetal chromosome abnormality. American Journal of Medical Genetics, 29(3), 613–622.PubMedCrossRef

Zamerowski, S., Lumley, M., Arreola, R., Dukes, K., & Sullivan, L. (2001). Favorable attitudes toward testing for chromosomal abnormalities via analysis of fetal cells in maternal blood. Genetics in Medicine, 3(4), 301–309.PubMedCrossRef

Zlotogora, J. (2002). Parental decisions to abort or continue a pregnancy with an abnormal finding after an invasive prenatal test. Prenatal Diagnosis, 22, 1102–1106.PubMedCrossRef

Zyblewski, S., Hill, E., Shirali, G., Atz, A., Forbus, G., Gonzalez, J., et al. (2009). Chromosomal anomalies influence parental treatment decisions in relation to prenatally diagnosed congenital heart disease. Pediatric Cardiology, 30, 1105–1111.PubMedPubMedCentralCrossRef

Titel: Variables Influencing Pregnancy Termination Following Prenatal Diagnosis of Fetal Chromosome Abnormalities
verfasst von: Anne Hawkins
Ana Stenzel
Joanne Taylor
Valerie Y. Chock
Louanne Hudgins
Publikationsdatum: 01.04.2013
Verlag: Springer US
Erschienen in: Journal of Genetic Counseling / Ausgabe 2/2013
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-012-9539-1

Neu im Fachgebiet Gynäkologie und Geburtshilfe

23.04.2024 | Medikamente in Schwangerschaft und Stillzeit | Nachrichten

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.

Newsletter bestellen

Springer Medizin

Variables Influencing Pregnancy Termination Following Prenatal Diagnosis of Fetal Chromosome Abnormalities

Abstract

Neu im Fachgebiet Gynäkologie und Geburtshilfe

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Update Gynäkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 2/2013

Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project

Life Events may Contribute to Family Communication About Cancer Risk Following BRCA1/2 Testing

A Model for Peer Experiential and Reciprocal Supervision (PEERS) for Genetic Counselors: Development and Preliminary Evaluation Within Clinical Practice

“I Didn’t Know It Existed Before You Called”: Protestant Clergy Experience, Education and Perceptions Regarding Genetics

“Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease

Erratum to: Effects of Second Language Usage on Genetic Counseling Training and Supervision

Neu im Fachgebiet Gynäkologie und Geburtshilfe

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Update Gynäkologie