Indications and results of prenatal invasive diagnosis (amniocentesis, chorionic villus sampling, cordocentesis): A tertiary center experience
Abstract
Objective: To evaluate the indications for prenatal invasive procedures and karyotype results in pregnant women
Materials and Methods: We conducted a retrospective analysis of the indications and karyotype results of pregnant women who opted for invasive diagnostic testing in a tertiary center between September 2022 and May 2023.
Results: Of the 331 patients who underwent prenatal genetic diagnosis, 267 underwent amniocentesis (80.7%), 62 underwent chorionic villus sampling (18.7%), and 2 underwent cordocentesis (0.6%). The most common indication for amniocentesis was an elevated risk in first-trimester screening tests (29.6%). Chorionic villus sampling was most frequently performed due to an increased risk in the first-trimester screening test (37.1%) and because of an increased nuchal translucency (37.1%). Cordocentesis was exclusively performed in cases of abnormal second-trimester ultrasound examinations. Trisomy 21 was most frequently detected in cases with increased nuchal translucency (13.3%).
Conclusions: The importance of invasive prenatal diagnostic procedures for the early detection and diagnosis of genetic disorders and the assessment of fetal health is evident. However, the decision to undergo these procedures should be made thoughtfully, with careful consideration of patient counselling and informed consent.
References
- Centers for Disease Control and Prevention (CDC). Update on overall prevalence of major birth defects--Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep. 2008 Jan 11;57(1):1–5.
- Milunsky A, Milunsky JM. Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. John Wiley & Sons; 2015. 1216 p.
- Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016 May;127(5):e123–37.
- Kagan KO, Sonek J, Kozlowski P. Antenatal screening for chromosomal abnormalities. Arch Gynecol Obstet. 2022 Apr;305(4):825–35.
- Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson Genetics in Medicine E-Book: Thompson & Thompson Genetics in Medicine E-Book. Elsevier Health Sciences; 2015. 561 p.
- Bulletins—Obstetrics AC of O and GC on P, Genetics C on, Medicine S for MF, Bulletins—Obstetrics AC of O and GC on P, Genetics C on, Medicine S for MF, et al. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstetrics & Gynecology [Internet]. 2020 Oct [cited 2023 Nov 5];136(4):e48. Available from: https://journals.lww.com/greenjournal/Fulltext/2020/10000/Screening_for_Fetal_Chromosomal_Abnormalities_.44.aspx?casa_token=r_qGWAu6yf8AAAAA:JuZigmyJFtj2cAlOj8Mv7rDfvQOMOjlyy7RYQ7P-3AtzZm-4f27VJOEC6hkiQX7c3BbhR754073EIqVttDvQ236m-YjqDOI
- Alamillo CML, Krantz D, Evans M, Fiddler M, Pergament E. Nearly a third of abnormalities found after first-trimester screening are different than expected:10-year experience from a single center. Prenatal Diagnosis [Internet]. 2013 [cited 2023 Nov 5];33(3):251–6. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/pd.4054
- Ball RH, Caughey AB, Malone FD, Nyberg DA, Comstock CH, Saade GR, et al. First- and Second-Trimester Evaluation of Risk for Down Syndrome. 2007;110(1).
- Nicolaides KH, Heath V, Cicero S. Increased fetal nuchal translucency at 11–14 weeks. Prenatal Diagnosis [Internet]. 2002 [cited 2023 Nov 5];22(4):308–15. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/pd.308
- Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, et al. First trimester ultrasound tests alone or in combination with first trimester serum tests for Down’s syndrome screening. Cochrane Database of Systematic Reviews [Internet]. 2017 [cited 2023 Nov 6];(3). Available from: https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD012600/full
- Practice Bulletin No. 175: Ultrasound in Pregnancy. Obstetrics & Gynecology [Internet]. 2016 Dec [cited 2023 Nov 5];128(6):e241. Available from: https://journals.lww.com/greenjournal/abstract/2016/12000/practice_bulletin_no__175__ultrasound_in_pregnancy.53.aspx
- Bromley B, Lieberman E, Shipp TD, Benacerraf BR. The Genetic Sonogram. Journal of Ultrasound in Medicine [Internet]. 2002 [cited 2023 Nov 5];21(10):1087–96. Available from: https://onlinelibrary.wiley.com/doi/abs/10.7863/jum.2002.21.10.1087
- Ravitsky V, Roy MC, Haidar H, Henneman L, Marshall J, Newson AJ, et al. The Emergence and Global Spread of Noninvasive Prenatal Testing. Annu Rev Genomics Hum Genet. 2021 Aug 31;22:309–38.
- Jummaat F, Ahmad S, Ismail NAM. 5-Year review on amniocentesis and its maternal fetal complications. Hormone Molecular Biology and Clinical Investigation [Internet]. 2019 Nov 1 [cited 2023 Nov 5];40(2). Available from: https://www.degruyter.com/document/doi/10.1515/hmbci-2019-0006/html.
Prenatal invaziv tanı endikasyonları ve sonuçları (amniyosentez, koryon villus örneklemesi, kordosentez): Tersiyer bir merkez deneyimi
Abstract
Amaç: Gebelerin prenatal invaziv işlem endikasyonlarını ve karyotip sonuçlarını değerlendirmek.
Gereç ve Yöntem: Eylül 2022 ile Mayıs 2023 tarihleri arasında tersiyer bir merkezde invaziv tanı testi önerilen gebe kadınlar için endikasyonların ve karyotip sonuçlarının retrospektif bir analizini yaptık.
Bulgular: Prenatal genetik tanı konulan 331 hastanın 267’sine amniyosentez (%80.7), 62’sine koryon villus örneklemesi (%18.7) ve 2’sine (%0.6) kordosentez uygulandı. Amniyosentez için en sık endikasyon ilk trimester tarama testlerinde riskin yüksek çıkmasıydı (%29.6). İlk trimester tarama testinde riskin artışı (%37.1) ve ense kalınlığının artışı (%37.1) nedeniyle en sık koryon villus örneklemesi yapıldı. Kordosentez yalnızca anormal ikinci trimester ultrason muayenesi vakalarında yapıldı. Trizomi 21 en sık ense kalınlığının arttığı olgularda (%13.3) tespit edildi.
Sonuç: Genetik bozuklukların erken tespiti ve tanısı ile fetal sağlığın değerlendirilmesinde invaziv prenatal tanı prosedürlerinin önemi açıktır. Ancak bu prosedürleri uygulama kararı, hasta danışmanlığı ve bilgilendirilmiş onam dikkate alınarak dikkatli bir şekilde verilmelidir.
References
- Centers for Disease Control and Prevention (CDC). Update on overall prevalence of major birth defects--Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep. 2008 Jan 11;57(1):1–5.
- Milunsky A, Milunsky JM. Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. John Wiley & Sons; 2015. 1216 p.
- Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016 May;127(5):e123–37.
- Kagan KO, Sonek J, Kozlowski P. Antenatal screening for chromosomal abnormalities. Arch Gynecol Obstet. 2022 Apr;305(4):825–35.
- Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson Genetics in Medicine E-Book: Thompson & Thompson Genetics in Medicine E-Book. Elsevier Health Sciences; 2015. 561 p.
- Bulletins—Obstetrics AC of O and GC on P, Genetics C on, Medicine S for MF, Bulletins—Obstetrics AC of O and GC on P, Genetics C on, Medicine S for MF, et al. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstetrics & Gynecology [Internet]. 2020 Oct [cited 2023 Nov 5];136(4):e48. Available from: https://journals.lww.com/greenjournal/Fulltext/2020/10000/Screening_for_Fetal_Chromosomal_Abnormalities_.44.aspx?casa_token=r_qGWAu6yf8AAAAA:JuZigmyJFtj2cAlOj8Mv7rDfvQOMOjlyy7RYQ7P-3AtzZm-4f27VJOEC6hkiQX7c3BbhR754073EIqVttDvQ236m-YjqDOI
- Alamillo CML, Krantz D, Evans M, Fiddler M, Pergament E. Nearly a third of abnormalities found after first-trimester screening are different than expected:10-year experience from a single center. Prenatal Diagnosis [Internet]. 2013 [cited 2023 Nov 5];33(3):251–6. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/pd.4054
- Ball RH, Caughey AB, Malone FD, Nyberg DA, Comstock CH, Saade GR, et al. First- and Second-Trimester Evaluation of Risk for Down Syndrome. 2007;110(1).
- Nicolaides KH, Heath V, Cicero S. Increased fetal nuchal translucency at 11–14 weeks. Prenatal Diagnosis [Internet]. 2002 [cited 2023 Nov 5];22(4):308–15. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/pd.308
- Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, et al. First trimester ultrasound tests alone or in combination with first trimester serum tests for Down’s syndrome screening. Cochrane Database of Systematic Reviews [Internet]. 2017 [cited 2023 Nov 6];(3). Available from: https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD012600/full
- Practice Bulletin No. 175: Ultrasound in Pregnancy. Obstetrics & Gynecology [Internet]. 2016 Dec [cited 2023 Nov 5];128(6):e241. Available from: https://journals.lww.com/greenjournal/abstract/2016/12000/practice_bulletin_no__175__ultrasound_in_pregnancy.53.aspx
- Bromley B, Lieberman E, Shipp TD, Benacerraf BR. The Genetic Sonogram. Journal of Ultrasound in Medicine [Internet]. 2002 [cited 2023 Nov 5];21(10):1087–96. Available from: https://onlinelibrary.wiley.com/doi/abs/10.7863/jum.2002.21.10.1087
- Ravitsky V, Roy MC, Haidar H, Henneman L, Marshall J, Newson AJ, et al. The Emergence and Global Spread of Noninvasive Prenatal Testing. Annu Rev Genomics Hum Genet. 2021 Aug 31;22:309–38.
- Jummaat F, Ahmad S, Ismail NAM. 5-Year review on amniocentesis and its maternal fetal complications. Hormone Molecular Biology and Clinical Investigation [Internet]. 2019 Nov 1 [cited 2023 Nov 5];40(2). Available from: https://www.degruyter.com/document/doi/10.1515/hmbci-2019-0006/html.
Details
| Primary Language | English |
|---|---|
| Subjects | Obstetrics and Gynaecology |
| Journal Section | Research Article |
| Authors | |
| Publication Date | December 28, 2023 |
| Submission Date | November 13, 2023 |
| Acceptance Date | November 29, 2023 |
| Published in Issue | Year 2023 Volume: 5 Issue: 4 |
