Research Article
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The impact of counseling indications in the decision-making process regarding second trimester prenatal genetic testing of pregnant women

Year 2021, Volume: 18 Issue: 2, 756 - 761, 01.07.2021
https://doi.org/10.38136/jgon.855436

Abstract

Objective: The reasons for prenatal genetic test counseling were changed over the years due to the introducing new and complex screening protocols into clinical use to determine the risk of fetal chromosomal abnormalities. The aim of this study is to investigate the effects of changing new counseling reasons on the decisions about having invasive testing of patients who are given genetic diagnosis counseling in the second trimester.
Method: This retrospective study, in one-year period, was conducted on patients who received consultancy on second trimester prenatal diagnostic testing in the fetal-maternal medicine department of Ankara City Hospital, Turkey. Counselling indications for genetic testing and patients' attitudes regarding invasive procedure after counseling were evaluated.
Results: During the study period, 1338 patients were given prenatal genetic test counseling in the second trimester, and amniocentesis was performed for 297 of them (22.2%). The most common indications for genetic testing were abnormal ultrasound scan results (26.5%) and aneuploidy soft markers (23.8%). The highest acceptance rate was found in patients who received counseling due to abnormal screening test results in the first trimester (44.1%). While 211 (30.8%) of high-risk pregnancies underwent amniocentesis, the rate of having amniocentesis in low-risk pregnancies was 13.2% and the difference between amniocentesis acceptance rates was significant
Conclusion: The differences in the risk criteria and risk level that require prenatal genetic diagnosis may affect the decision-making processes regarding the acceptance of genetic testing in patients who receive prenatal genetic counseling in the second trimester.

References

  • Knutzen D, Stoll K. Beyond the Brochure: Innovations in Clinical Counseling Practices for Prenatal Genetic Testing Options. J Perinat Neonatal Nurs. 2019;33(1):12-25.
  • Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol. 2016;127(5):e108-22.
  • Benn PA, Egan JF, Fang M, Smith-Bindman R. Changes in the utilization of prenatal diagnosis. Obstet Gynecol. 2004;103(6):1255-60.
  • Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abuhamad AZ. Uptake of noninvasive prenatal testing at a large academic referral center. Am J Obstet Gynecol. 2014;211(6):651.e1-7.
  • Sadlecki P, Grabiec M, Walentowicz P, Walentowicz-Sadlecka M. Why do patients decline amniocentesis? Analysis of factors influencing the decision to refuse invasive prenatal testing. BMC Pregnancy Childbirth. 2018;18(1):174.
  • Marini T, Sullivan J, Naeem R. Decisions about amniocentesis by advanced maternal age patients following maternal serum screening may not always correlate clinically with screening results: need for improvement in informed consent process. Am J Med Genet. 2002;109(3):171-5.
  • Usta IM, Nassar AH, Abu-Musa AA, Hannoun A. Effect of religion on the attitude of primiparous women toward genetic testing. Prenat Diagn. 2010;30(3):241-6.
  • Lesser Y, Rabinowitz J. Elective amniocentesis in low-risk pregnancies: decision making in the era of information and uncertainty. Am J Public Health. 2001;91(4):639-41.
  • Halliday J, Lumley J, Watson L. Comparison of women who do and do not have amniocentesis or chorionic villus sampling. Lancet. 1995;345(8951):704-9.
  • Ghi T, Sotiriadis A, Calda P, Da Silva Costa F, Raine-Fenning N, Alfirevic Z, et al. ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016;48(2):256-68.
  • Willruth A, Vieten J, Berg C, Gembruch U, Geipel A. Decision making and attitudes towards invasive prenatal diagnosis in the early second trimester. Ultraschall Med. 2010;31(5):515-9.
  • Grinshpun-Cohen J, Miron-Shatz T, Ries-Levavi L, Pras E. Factors that affect the decision to undergo amniocentesis in women with normal Down syndrome screening results: it is all about the age. Health Expect. 2015;18(6):2306-17.
  • Wray AM, Ghidini A, Alvis C, Hodor J, Landy HJ, Poggi SH. The impact of first-trimester screening on AMA patients' uptake of invasive testing. Prenat Diagn. 2005;25(5):350-3.
  • Vergani P, Locatelli A, Biffi A, Ciriello E, Zagarella A, Pezzullo JC, et al. Factors affecting the decision regarding amniocentesis in women at genetic risk because of age 35 years or older. Prenat Diagn. 2002;22(9):769-74.
  • Ilgin-Ruhi H, Yürür-Kutlay N, Tükün A, Bökesoy I. The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey. Eur J Med Genet. 2005;48(1):13-9.
  • Kuppermann M, Learman LA, Gates E, Gregorich SE, Nease RF, Jr., Lewis J, et al. Beyond race or ethnicity and socioeconomic status: predictors of prenatal testing for Down syndrome. Obstet Gynecol. 2006;107(5):1087-97.
  • Liamputtong P, Halliday JL, Warren R, Watson F, Bell RJ. Why do women decline prenatal screening and diagnosis? Australian women's perspective. Women Health. 2003;37(2):89-108.
  • van den Berg M, Timmermans DR, Kleinveld JH, Garcia E, van Vugt JM, van der Wal G. Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women's reasons. Prenat Diagn. 2005;25(1):84-90.
  • Green JM, Hewison J, Bekker HL, Bryant LD, Cuckle HS. Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technol Assess. 2004;8(33):iii, ix-x, 1-109.
  • Elimian A, Demsky M, Figueroa R, Ogburn P, Spitzer AR, Quirk JG. The influence of genetic counselors on the acceptance of mid-trimester amniocentesis. J Matern Fetal Neonatal Med. 2005;17(3):219-21.

Gebe kadınların ikinci trimester prenatal genetik testine ilişkin karar verme sürecinde danışmanlık nedeninin etkisi

Year 2021, Volume: 18 Issue: 2, 756 - 761, 01.07.2021
https://doi.org/10.38136/jgon.855436

Abstract

Amaç: Doğum öncesi genetik tanı danışmanlığının nedenleri, fetal kromozomal anormallik riskini belirlemek için yeni ve karmaşık tarama protokollerinin klinik kullanıma girmesi nedeniyle yıllar içinde değişmiştir. Bu çalışmanın amacı, ikinci trimesterde genetik tanı danışmanlığı verilen hastaların invaziv testi yaptırma kararında danışmanlık nedeninin etkisini araştırmaktır.
Metot: Bu çalışmada, Ankara Şehir Hastanesi perinatoloji kliniğinde bir yıllık sürede ikinci trimester prenatal tanı testi danışmanlığı alan hastaların kayıtları retrospektif olarak taranmıştır. Genetik testler için danışmanlık endikasyonları ve danışma sonrası invaziv test yaptırma ile ilgili hastaların tutumları değerlendirilmiştir.
Bulgular: Çalışmanın kapsadığı süre içerisinde, toplam 1338 hastaya ikinci trimesterde doğum öncesi genetik test danışmanlığı verildi ve bunların 297'sine (% 22,2) amniyosentez uygulandı. Hastaların en sık anormal ultrason bulguları (% 26,5) ve anöploidi soft belirteçleri nedeniyle (% 23,8) genetik test danışmalığı aldığı görüldü. En yüksek kabul oranı ilk trimesterde anormal tarama testi sonuçları nedeniyle danışmanlık alan hastalarda bulundu (% 44.1). Yüksek riskli gebeliklerin 211'ine (% 30,8) amniyosentez yapılırken, düşük riskli gebeliklerde amniyosentez olma oranı % 13,2 idi ve amniyosentez kabul oranları arasındaki fark anlamlıydı.
Sonuç: İkinci trimesterde prenatal genetik danışmanlık verilme nedeni ve risk düzeyi, hastanın testi yaptırma kararında etkili olabilir.

References

  • Knutzen D, Stoll K. Beyond the Brochure: Innovations in Clinical Counseling Practices for Prenatal Genetic Testing Options. J Perinat Neonatal Nurs. 2019;33(1):12-25.
  • Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol. 2016;127(5):e108-22.
  • Benn PA, Egan JF, Fang M, Smith-Bindman R. Changes in the utilization of prenatal diagnosis. Obstet Gynecol. 2004;103(6):1255-60.
  • Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abuhamad AZ. Uptake of noninvasive prenatal testing at a large academic referral center. Am J Obstet Gynecol. 2014;211(6):651.e1-7.
  • Sadlecki P, Grabiec M, Walentowicz P, Walentowicz-Sadlecka M. Why do patients decline amniocentesis? Analysis of factors influencing the decision to refuse invasive prenatal testing. BMC Pregnancy Childbirth. 2018;18(1):174.
  • Marini T, Sullivan J, Naeem R. Decisions about amniocentesis by advanced maternal age patients following maternal serum screening may not always correlate clinically with screening results: need for improvement in informed consent process. Am J Med Genet. 2002;109(3):171-5.
  • Usta IM, Nassar AH, Abu-Musa AA, Hannoun A. Effect of religion on the attitude of primiparous women toward genetic testing. Prenat Diagn. 2010;30(3):241-6.
  • Lesser Y, Rabinowitz J. Elective amniocentesis in low-risk pregnancies: decision making in the era of information and uncertainty. Am J Public Health. 2001;91(4):639-41.
  • Halliday J, Lumley J, Watson L. Comparison of women who do and do not have amniocentesis or chorionic villus sampling. Lancet. 1995;345(8951):704-9.
  • Ghi T, Sotiriadis A, Calda P, Da Silva Costa F, Raine-Fenning N, Alfirevic Z, et al. ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016;48(2):256-68.
  • Willruth A, Vieten J, Berg C, Gembruch U, Geipel A. Decision making and attitudes towards invasive prenatal diagnosis in the early second trimester. Ultraschall Med. 2010;31(5):515-9.
  • Grinshpun-Cohen J, Miron-Shatz T, Ries-Levavi L, Pras E. Factors that affect the decision to undergo amniocentesis in women with normal Down syndrome screening results: it is all about the age. Health Expect. 2015;18(6):2306-17.
  • Wray AM, Ghidini A, Alvis C, Hodor J, Landy HJ, Poggi SH. The impact of first-trimester screening on AMA patients' uptake of invasive testing. Prenat Diagn. 2005;25(5):350-3.
  • Vergani P, Locatelli A, Biffi A, Ciriello E, Zagarella A, Pezzullo JC, et al. Factors affecting the decision regarding amniocentesis in women at genetic risk because of age 35 years or older. Prenat Diagn. 2002;22(9):769-74.
  • Ilgin-Ruhi H, Yürür-Kutlay N, Tükün A, Bökesoy I. The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey. Eur J Med Genet. 2005;48(1):13-9.
  • Kuppermann M, Learman LA, Gates E, Gregorich SE, Nease RF, Jr., Lewis J, et al. Beyond race or ethnicity and socioeconomic status: predictors of prenatal testing for Down syndrome. Obstet Gynecol. 2006;107(5):1087-97.
  • Liamputtong P, Halliday JL, Warren R, Watson F, Bell RJ. Why do women decline prenatal screening and diagnosis? Australian women's perspective. Women Health. 2003;37(2):89-108.
  • van den Berg M, Timmermans DR, Kleinveld JH, Garcia E, van Vugt JM, van der Wal G. Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women's reasons. Prenat Diagn. 2005;25(1):84-90.
  • Green JM, Hewison J, Bekker HL, Bryant LD, Cuckle HS. Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technol Assess. 2004;8(33):iii, ix-x, 1-109.
  • Elimian A, Demsky M, Figueroa R, Ogburn P, Spitzer AR, Quirk JG. The influence of genetic counselors on the acceptance of mid-trimester amniocentesis. J Matern Fetal Neonatal Med. 2005;17(3):219-21.
There are 20 citations in total.

Details

Primary Language English
Subjects Obstetrics and Gynaecology
Journal Section Research Articles
Authors

Filiz Halıcı 0000-0002-4494-5167

Seyit Ahmet Erol 0000-0002-2494-4896

Fatma Doğa Öcal 0000-0003-4727-7982

Kadriye Yakut This is me 0000-0003-3182-4312

Berhan Besimoğlu This is me 0000-0003-0376-2513

Şule Göncü Ayhan This is me 0000-0002-5770-7555

Dilek Sahin 0000-0001-8567-9048

Publication Date July 1, 2021
Submission Date January 7, 2021
Acceptance Date February 17, 2021
Published in Issue Year 2021 Volume: 18 Issue: 2

Cite

Vancouver Halıcı F, Erol SA, Öcal FD, Yakut K, Besimoğlu B, Göncü Ayhan Ş, Sahin D. The impact of counseling indications in the decision-making process regarding second trimester prenatal genetic testing of pregnant women. JGON. 2021;18(2):756-61.