Research Article
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Artmış Nukal Translusensi ve Gebelik Sonuçları: Bir Üçüncü Basamak Merkez Verileri

Year 2024, Volume: 26 Issue: 1, 38 - 43, 30.04.2024
https://doi.org/10.18678/dtfd.1410977

Abstract

Amaç: Bu çalışmanın amacı, gebeliğin 11. ile 14. haftaları arasında kliniğimize başvuran ve nukal translusensi (NT) ölçümleri ortancanın ≥1,5 katı (multiples of the median, MoM) olan hastaların gebelik sonuçlarını değerlendirmektir.
Gereç ve Yöntemler: Çalışmaya NT ölçümü ≥1,5 MoM olarak tespit edilen ve gebelik sonuçlarına ulaşılabilen 85 hasta dahil edildi. Hastaların demografik özellikleri, prenatal invaziv tanı testi sonuçları, fetal anomali taraması, fetal ekokardiyografi (EKO) sonuçları ile neonatal ve obstetrik sonuçları değerlendirildi.
Bulgular: Hastaların %10,6 (n=9)’sında anormal karyotip saptandı. Trizomi 21 en sık görülen kromozom anomalisiydi. Hastaların %29,4 (n=25)’ünde fetal yapısal anomali tespit edildi. Normal karyotipli fetusların %21 (n=13)’inde ve anormal karyotipli fetusların %66,7 (n=6)’sinde yapısal fetal anomali tespit edildi. Kardiyak anomaliler normal karyotipli hastalarda %9,7 (n=6) ile en sık görülen anomali olarak bulundu. NT ve NT MoM değerleri, fetal yapısal (her iki p=0,001) veya kromozomal anomalisi olan hastalarda (sırasıyla p=0,011 ve p=0,019) olmayanlara göre anlamlı olarak daha yüksek bulundu. Gebeliği fetal kayıp ile sonuçlanan hastalarda NT ve NT MoM değerleri, canlı doğum yapan hastalara göre anlamlı olarak daha yüksek bulundu (her iki p=0.001).
Sonuç: NT veya NT MoM değerlerinin artması fetusta kromozomal anomaliler, yapısal anomaliler görülme riskinin ve olumsuz gebelik sonuçlarının artmasına işaret eder. NT artışı olan hastalarda normal karyotip tespit edilse bile fetal anomali taraması ve fetal EKO önerilmelidir.

References

  • Snijders RJ, Johnson S, Sebire NJ, Noble PL, Nicolaides KH. First-trimester ultrasound screening for chromosomal defects. Ultrasound Obstet Gynecol. 1996;7(3):216-26.
  • Gadow EC, Otaño L, Lippold SE. Congenital malformations. Curr Opin Obstet Gynecol. 1996;8(6):412-6.
  • Ball RH, Caughey AB, Malone FD, Nyberg DA, Comstock CH, Saade GR, et al. First-and second-trimester evaluation of risk for Down syndrome. Obstet Gynecol. 2007;110(1):10-7.
  • Snijders R, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicenter project on assessment of risk of trisomy 21 by maternal age and fetal translucency thickness at 10-14 weeks of gestation. Lancet. 1998;352(9125):343-6.
  • Nicolaides KH. The 11-13+6 weeks scan. London: Fetal Medicine Foundation; 2004.
  • Souka AP, Snijders RJ, Novakov A, Soares W, Nicolaides KH. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol. 1998;11(6):391-400.
  • Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol. 2001;18(1):9-17.
  • Michailidis GD, Economides DL. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol. 2001;17(2):102-5.
  • Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol. 2005;192(4):1005-21.
  • De Domenico R, Faraci M, Hyseni E, Di Prima FAF, Valenti O, Monte S, et al. Increased nuchal translucency in normal karyotype fetuses. J Prenat Med. 2011;5(2):23-6.
  • Äyräs O, Tikkanen M, Eronen M, Paavonen J, Stefanovic V. Increased nuchal translucency and pregnancy outcome: a retrospective study of 1063 consecutive singleton pregnancies in a single referral institution. Prenat Diagn. 2013;33(9):856-62.
  • Nicolaides KH, Heath V, Cicero S. Increased fetal nuchal translucency at 11–14 weeks. Prenat Diagn. 2002;22(4):308-15.
  • Baumann C, Delagarde R, Vuillard E, Oury JF. Long-term follow-up of children with increased nuchal translucency and normal karyotype. J Gynecol Obstet Biol Reprod (Paris). 2005;34(1 Suppl):S97-102. French.
  • Senat MV, Bussières L, Couderc S, Roume J, Rozenberg P, Bouyer J, et al. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study. Am J Obstet Gynecol. 2007;196(1):53.e1-6.
  • Senat MV, De Keersmaecker B, Audibert F, Montcharmont G, Frydman R, Ville Y. Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn. 2002;22(5):345‑9.
  • Bilardo CM, Müller MA, Pajkrt E, Clur SA, van Zalen MM, Bijlsma EK. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol. 2007;30(1):11‑8.
  • Kagan KO, Avgidou K, Molina FS, Gajewska K, Nicolaides KH. Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet Gynecol. 2006;107(1):6-10.
  • Boutot M, Yardin C, Martin R, Bourthoumieu S, Aubard V, Martin S, et al. Follow-up of increased nuchal translucency: results of a study of 398 cases. J Gynecol Obstet Hum Reprod. 2022;51(10):102482.
  • Zhang H, Wang S, Feng C, Zhao H, Zhang W, Sun Y, et al. Chromosomal abnormalities and structural defects in fetuses with increased nuchal translucency at a Chinese tertiary medical center. Front Med (Lausanne). 2023;10:1158554.
  • Grande M, Jansen FA, Blumenfeld YJ, Fisher A, Odibo AO, Haak MC, et al. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;46(6):650-8.
  • Pandya PP, Kondylios A, Hilbert L, Snijders RJ, Nicolaides KH. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol. 1995;5(1):15-9.
  • Tarhan T, Kürek Eken M, İlhan G, Karateke A. Evaluation of perinatal outcomes of pregnancies having increased nuchal translucency in first trimester screening test and normal karyotype. J Ist Faculty Med. 2016;79(3):117-21. Turkish.
  • Şahin Uysal N, Gülümser Ç, Yılmaz Çelik Z, Yanık FB. Increased nuchal translucency and pregnancy outcomes: experience of Başkent University Ankara Hospital. Turk J Obstet Gynecol. 2019;16(2):100-6.
  • Niroomanesh S, Nadimzadeh N, Rahimi-Sharbaf F, Shirazi M, Golshahi F, Sahebdel B, et al. Pregnancy outcomes of normal karyotype fetuses with increased nuchal translucency. Caspian J Intern Med. 2023;14(4):732-6.

Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data

Year 2024, Volume: 26 Issue: 1, 38 - 43, 30.04.2024
https://doi.org/10.18678/dtfd.1410977

Abstract

Aim: This study aimed to evaluate the pregnancy outcomes of patients who applied to our clinic between the 11th and 14th weeks of pregnancy and whose nuchal translucency (NT) measurement was ≥1.5 multiples of the median (MoM).
Material and Methods: The study included 85 patients whose NT measurement was determined ≥1.5 MoM and pregnancy results were available. Demographic characteristics of the patients, prenatal invasive diagnostic test results, fetal anomaly screening, fetal echocardiography (ECHO) results, and neonatal and obstetric results were evaluated.
Results: Abnormal karyotype was detected in 10.6% (n=9) of the patients. Trisomy 21 was the most common chromosomal anomaly. Fetal structural anomaly was detected in 29.4% (n=25) of the patients. A structural fetal anomaly was detected in 21% (n=13) of fetuses with normal karyotypes and 66.7% (n=6) of fetuses with abnormal karyotypes. Cardiac anomalies were found to be the most common anomalies with 9.7% (n=6) in patients with normal karyotype. NT and NT MoM values in patients with fetal structural (both p=0.001) or chromosomal anomalies (p=0.011, and p=0.019, respectively) were found significantly higher than those without. NT and NT MoM values in patients whose pregnancies resulted in fetal loss were found significantly higher than in patients who had a live birth (both p=0.001).
Conclusion: Increasing NT or NT MoM values indicate an increase in the risk of chromosomal anomalies, structural anomalies, and poor pregnancy outcomes in the fetus. Fetal anomaly screening and fetal ECHO should be recommended in patients with increased NT, even if a normal karyotype is detected.

References

  • Snijders RJ, Johnson S, Sebire NJ, Noble PL, Nicolaides KH. First-trimester ultrasound screening for chromosomal defects. Ultrasound Obstet Gynecol. 1996;7(3):216-26.
  • Gadow EC, Otaño L, Lippold SE. Congenital malformations. Curr Opin Obstet Gynecol. 1996;8(6):412-6.
  • Ball RH, Caughey AB, Malone FD, Nyberg DA, Comstock CH, Saade GR, et al. First-and second-trimester evaluation of risk for Down syndrome. Obstet Gynecol. 2007;110(1):10-7.
  • Snijders R, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicenter project on assessment of risk of trisomy 21 by maternal age and fetal translucency thickness at 10-14 weeks of gestation. Lancet. 1998;352(9125):343-6.
  • Nicolaides KH. The 11-13+6 weeks scan. London: Fetal Medicine Foundation; 2004.
  • Souka AP, Snijders RJ, Novakov A, Soares W, Nicolaides KH. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol. 1998;11(6):391-400.
  • Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol. 2001;18(1):9-17.
  • Michailidis GD, Economides DL. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol. 2001;17(2):102-5.
  • Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol. 2005;192(4):1005-21.
  • De Domenico R, Faraci M, Hyseni E, Di Prima FAF, Valenti O, Monte S, et al. Increased nuchal translucency in normal karyotype fetuses. J Prenat Med. 2011;5(2):23-6.
  • Äyräs O, Tikkanen M, Eronen M, Paavonen J, Stefanovic V. Increased nuchal translucency and pregnancy outcome: a retrospective study of 1063 consecutive singleton pregnancies in a single referral institution. Prenat Diagn. 2013;33(9):856-62.
  • Nicolaides KH, Heath V, Cicero S. Increased fetal nuchal translucency at 11–14 weeks. Prenat Diagn. 2002;22(4):308-15.
  • Baumann C, Delagarde R, Vuillard E, Oury JF. Long-term follow-up of children with increased nuchal translucency and normal karyotype. J Gynecol Obstet Biol Reprod (Paris). 2005;34(1 Suppl):S97-102. French.
  • Senat MV, Bussières L, Couderc S, Roume J, Rozenberg P, Bouyer J, et al. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study. Am J Obstet Gynecol. 2007;196(1):53.e1-6.
  • Senat MV, De Keersmaecker B, Audibert F, Montcharmont G, Frydman R, Ville Y. Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn. 2002;22(5):345‑9.
  • Bilardo CM, Müller MA, Pajkrt E, Clur SA, van Zalen MM, Bijlsma EK. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol. 2007;30(1):11‑8.
  • Kagan KO, Avgidou K, Molina FS, Gajewska K, Nicolaides KH. Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet Gynecol. 2006;107(1):6-10.
  • Boutot M, Yardin C, Martin R, Bourthoumieu S, Aubard V, Martin S, et al. Follow-up of increased nuchal translucency: results of a study of 398 cases. J Gynecol Obstet Hum Reprod. 2022;51(10):102482.
  • Zhang H, Wang S, Feng C, Zhao H, Zhang W, Sun Y, et al. Chromosomal abnormalities and structural defects in fetuses with increased nuchal translucency at a Chinese tertiary medical center. Front Med (Lausanne). 2023;10:1158554.
  • Grande M, Jansen FA, Blumenfeld YJ, Fisher A, Odibo AO, Haak MC, et al. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;46(6):650-8.
  • Pandya PP, Kondylios A, Hilbert L, Snijders RJ, Nicolaides KH. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol. 1995;5(1):15-9.
  • Tarhan T, Kürek Eken M, İlhan G, Karateke A. Evaluation of perinatal outcomes of pregnancies having increased nuchal translucency in first trimester screening test and normal karyotype. J Ist Faculty Med. 2016;79(3):117-21. Turkish.
  • Şahin Uysal N, Gülümser Ç, Yılmaz Çelik Z, Yanık FB. Increased nuchal translucency and pregnancy outcomes: experience of Başkent University Ankara Hospital. Turk J Obstet Gynecol. 2019;16(2):100-6.
  • Niroomanesh S, Nadimzadeh N, Rahimi-Sharbaf F, Shirazi M, Golshahi F, Sahebdel B, et al. Pregnancy outcomes of normal karyotype fetuses with increased nuchal translucency. Caspian J Intern Med. 2023;14(4):732-6.
There are 24 citations in total.

Details

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

Mustafa Bağcı 0000-0003-1042-2920

Kazım Uçkan 0000-0002-5576-6789

Hanım Güler Şahin 0000-0002-8596-0734

Onur Karaaslan 0000-0002-4599-1173

Erbil Karaman 0000-0003-1058-2748

Early Pub Date April 6, 2024
Publication Date April 30, 2024
Submission Date December 28, 2023
Acceptance Date March 17, 2024
Published in Issue Year 2024 Volume: 26 Issue: 1

Cite

APA Bağcı, M., Uçkan, K., Şahin, H. G., Karaaslan, O., et al. (2024). Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data. Duzce Medical Journal, 26(1), 38-43. https://doi.org/10.18678/dtfd.1410977
AMA Bağcı M, Uçkan K, Şahin HG, Karaaslan O, Karaman E. Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data. Duzce Med J. April 2024;26(1):38-43. doi:10.18678/dtfd.1410977
Chicago Bağcı, Mustafa, Kazım Uçkan, Hanım Güler Şahin, Onur Karaaslan, and Erbil Karaman. “Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data”. Duzce Medical Journal 26, no. 1 (April 2024): 38-43. https://doi.org/10.18678/dtfd.1410977.
EndNote Bağcı M, Uçkan K, Şahin HG, Karaaslan O, Karaman E (April 1, 2024) Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data. Duzce Medical Journal 26 1 38–43.
IEEE M. Bağcı, K. Uçkan, H. G. Şahin, O. Karaaslan, and E. Karaman, “Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data”, Duzce Med J, vol. 26, no. 1, pp. 38–43, 2024, doi: 10.18678/dtfd.1410977.
ISNAD Bağcı, Mustafa et al. “Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data”. Duzce Medical Journal 26/1 (April 2024), 38-43. https://doi.org/10.18678/dtfd.1410977.
JAMA Bağcı M, Uçkan K, Şahin HG, Karaaslan O, Karaman E. Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data. Duzce Med J. 2024;26:38–43.
MLA Bağcı, Mustafa et al. “Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data”. Duzce Medical Journal, vol. 26, no. 1, 2024, pp. 38-43, doi:10.18678/dtfd.1410977.
Vancouver Bağcı M, Uçkan K, Şahin HG, Karaaslan O, Karaman E. Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data. Duzce Med J. 2024;26(1):38-43.