Abstract
Amaç: Önemli bir glikoprotein olan Alfa-fetoprotein (AFP), gebelik boyunca fetal karaciğer ve yolk kesesinden salınmaktadır. Günümüzde halen, erken 2. trimesterde açık nöral tüp defektlerinin taranmasında kullanılan en önemli biyokimyasal belirteçtir. Trizomi tarama testlerinin bir bileşeni olarak ve ayrıca klinik çalışma düzeyinde olumsuz gebelik sonuçlarının öngörülmesinde kullanılmaktadır. AFP, maternal karaciğer tümörleri gibi birtakım nadir hastalıklarda da yükselebilmekle birlikte, AFP yüksekliği genel olarak feto-plasental kaynaklı nedenlere bağlanır. Bu yazıda, AFP’nin güncel obstetride kulanımı ile ilgili detaylar gözden geçirilecek ve AFP kullanımı ile ilgili hastanemizin tecrübeleri paylaşılacaktır.
Yöntemler: Bu retrospektif tanımlayıcı çalışmaya, hastanemize ilk trimesterde başvuran 525 gebe dahil edildi. USG’ de CRL ölçümüne göre NT MoM (Multiple of Median) değeri 99. persantil üzerinde olan veya herhangi bir haftada 3 mm ve üzerinde olan veya kombine tarama test sonucu 1/ 270 ve üzerinde gelen (yüksek riskli grup) hastalara invaziv tanı testi önerildi. Düşük riskli gruba 2. trimesterde (BPD ölçümü 27 ile 49 mm arasında ve 15-21. gebelik haftaları arasında iken) sadece AFP ölçümü yapıldı. Hastaların gebelik ve doğum ile ilgili diğer bilgileri (doğum ağırlığı, doğum haftası vb.) hastane kayıtlarından geriye dönük olarak elde edildi.
Bulgular: Ortalama AFP MoM değeri 1,2± 0,45 idi. AFP MoM değeri 2.5 ve üzeri olan hasta sayısı 7, 2-2,5 MoM arası olan hasta sayısı 19 idi. Bu gebelerin hiçbirinde ayrıntılı USG taraması sonrasında açık nöral tüp defekti (NTD) saptanmadı. Preterm doğum oranı AFP MoM değeri 2,5 ve üstü olan grupta %14,2, 2-2,5 MoM arası olan grupta %15,7 ve 2 MoM altı olan grupta %14,7 idi ve gruplar arasında istatistiksel olarak anlamlı fark saptanmadı (her grup için p>0.05).
Sonuç: Anöploidi tarama testleri tüm gebelere önerilmelidir. Tarama testlerinin kısıtlılıkları, yanlış pozitif ve negatiflikleri hakkında hastanın aydınlatılması gerekmektedir. Tarama testlerinin aynı anda veya ardışık kullanımı önerilmemektedir. Anöploidi tarama testlerinin bir parçası olan AFP, NTD riskinin taramasında da tek başına başarıyla kullanılmaktadır. AFP yüksekliği durumunda tüm gebelere genetik danışmanlık verilmeli, ayrıntılı USG taraması ve gerekli durumlarda invaziv test önerilmelidir.
References
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- 3- Wald NJ, Cuckle H, Brock JH, Peto R, Polani PE, Woodford FP. Maternal serum-alpha fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of UK Collaborative Study on alpha-fetoprotein in relation to neural-tube defects. Lancet 1(8026):1323, 1977
- 4- Filly RA, Callen PW, Goldstein RB. Alpha-fetoprotein screening programs: what every obstetric sonologist should know. Radiology 188(1):1, 1993
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- 16- Cameron M, Moran P. Prenatal screening and diagnosis of neural tube defects. Prenat Diagn 2009;29:402–11.
- 17- Ultrasound in pregnancy. Practice Bulletin No. 175. American College of Obstetricians and Gynecologists. (ACOG) Obstet Gynecol 2016;128:e241–56.
- 18- Wilson RD. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. SOGC Genetics Committee. J Obstet Gynaecol Can 2014;36:927–39.
- 19- Fong KW, Toi A, Okun N, Al-Shami E, Menezes RJ. Retrospective review of diagnostic performance of intracranial translucency in detection of open spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 2011; 38:630–4.
- 20- Glenn OA, Cuneo AA, Barkovich AJ, Hashemi Z, Bartha AI, Xu D. Malformations of cortical development: diagnostic accuracy of fetal MR imaging. Radiology 2012;263:843–55.
The Use of Alpha-Fetoprotein in Current Obstetrics; Our Hospital Experiences and Review of the Literature
Abstract
Objective: Alpha-fetoprotein (AFP) is an important glycoprotein that is released from fetal liver and yolk sac during pregnancy. AFP during the early second trimester remains the most important biochemical marker for fetal open neural defects (NTD). Maternal serum AFP is also a component in the biochemical screening for fetal aneuploidy as well as adverse gestational outcomes. Although AFP may be elevated in a number of rare diseases such as maternal liver tumors, the elevation of AFP is generally attributed to feto-placental origin. In this paper, the details of the use of AFP in current obstetrics will be reviewed and the experiences of our hospital will be shared.
Methods: In this descriptive-retrospective study, 525 healthy pregnant women who admitted to our hospital at first trimester were included. Invasive diagnostic tests were recommended for patients with increased nuchal translucency (NT) value or with combined screening test result 1/270 and above (high-risk group). An increased NT was described as a measure greater than 99th percentile according to gestational age or exceeds a set threshold of 3 mm. Low-risk group underwent only AFP testing in the second trimester. Information on birth weight, birth week and as well as pregnancy complications was obtained from hospital records.
Results: The mean AFP MoM value was 1.2 ± 0.45. The number of patients with AFP MoM 2.5 and above was 7, between with 2-2.5 MoM was 19. Open neural tube defect (NTD) was not detected in any of these pregnant women after a detailed ultrasound scan. Preterm delivery rate was 14.2% in the group with AFP MoM 2.5 and over, 15.7% in the group with between 2-2.5 MoM and 14.7% in the group with less than 2 MoM and no statistically significant difference was found between the groups (p> 0.05 for each group).
Conclusions: Aneuploidy screening tests should be offered to all pregnant women. The pregnant should be informed about the limitations, false positive and negative rates of the screening tests. Simultaneous or sequential use of screening tests is not recommended. Single AFP value may be used alone successfully in the screening of NTD. Detailed USG screening, genetic consultation and (if indicate) diagnostic testing should be recommended to all pregnant women complicated with increased AFP values.
References
- 1- Neural Tube Defects. Practice Bulletin No.187. American College of Obstetricians and Gynecologists (ACOG) Obstet Gynecol. 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412.
- 2- Brock DJ, Bolton AE, Monaghan JM. Prenatal diagnosis of anencephaly through maternal serum alpha-fetoprotein measurement. Lancet 2(7835):923, 1973
- 3- Wald NJ, Cuckle H, Brock JH, Peto R, Polani PE, Woodford FP. Maternal serum-alpha fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of UK Collaborative Study on alpha-fetoprotein in relation to neural-tube defects. Lancet 1(8026):1323, 1977
- 4- Filly RA, Callen PW, Goldstein RB. Alpha-fetoprotein screening programs: what every obstetric sonologist should know. Radiology 188(1):1, 1993
- 5- Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. An association between low maternal serum α- fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol 148(7):886, 1984
- 6- Prenatal diagnosis. In: Cunningham FG, Leveno JK, Bloom SL, Dashe SJ, Hoffman BL, Casey BM, et al. Williams Obstetrics, 25th Edition. McGraw-Hill Education; 2018, 618-619
- 7- Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 353(19):2005b
- 8- Kazerouni NN, Currier RJ, Flessel M, Goldman S, Hennigan C, Hodgkinson C, Lorey F, Malm L, Tempelis C, Roberson M. Detection rate of quadruple-marker screening determined by clinical follow-up and registry data in the statewide California program, July 2007 to February 2009. Prenat Diagn 31(9):901, 2011
- 9- Vink J, Wapner R, D’Alton ME. Prenatal diagnosis in twin gestations. Semin Perinatol 36(3):169, 2012
- 10- Huttly W, Rudnicka A, Wald NJ. Second-trimester prenatal screening markers for Down syndrome in women with insulin-dependent diabetes mellitus. Prenat Diagn 24(10):804, 2004
- 11- Bradley LA, Palomaki GE, McDowell GA. Technical standards and guidelines: prenatal screening for open neural tube defects. ONTD Working Group, ACMG Laboratory Quality Assurance Committee. Genet Med 2005;7:355–69.
- 12- Reichler A, Hume RF Jr, Drugan A, Bardicef M, Isada NB, Johnson MP, Evans MI. Risk of anomalies as a function of level of elevated maternal serum α-fetoprotein. Am J Obstet Gynecol 171(4):1052, 1994
- 13- Chandra S, Scott H, Dodds L, Watts C, Blight C, Van Den Hof M. Unexplained elevated maternal serum alphafetoprotein and/or human chorionic gonadotropin and the risk of adverse outcomes. Am J Obstet Gynecol 2003;189:775–81.
- 14- Dugoff L, Hobbins JC, Malone FD, Vidaver J, Sullivan L, Canick JA, et al. Quad screen as a predictor of adverse pregnancy outcome. Obstet Gynecol 2005;106:260–7.
- 15- Norem CT, Schoen EJ, Walton DL, Krieger RC, O’Keefe J, To TT, et al. Routine ultrasonography compared with maternal serum alpha-fetoprotein for neural tube defect screening. Obstet Gynecol 2005;106:747–52.
- 16- Cameron M, Moran P. Prenatal screening and diagnosis of neural tube defects. Prenat Diagn 2009;29:402–11.
- 17- Ultrasound in pregnancy. Practice Bulletin No. 175. American College of Obstetricians and Gynecologists. (ACOG) Obstet Gynecol 2016;128:e241–56.
- 18- Wilson RD. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. SOGC Genetics Committee. J Obstet Gynaecol Can 2014;36:927–39.
- 19- Fong KW, Toi A, Okun N, Al-Shami E, Menezes RJ. Retrospective review of diagnostic performance of intracranial translucency in detection of open spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 2011; 38:630–4.
- 20- Glenn OA, Cuneo AA, Barkovich AJ, Hashemi Z, Bartha AI, Xu D. Malformations of cortical development: diagnostic accuracy of fetal MR imaging. Radiology 2012;263:843–55.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Obstetrics and Gynaecology |
| Journal Section | Research Article |
| Authors | |
| Publication Date | March 31, 2020 |
| Submission Date | December 27, 2019 |
| Acceptance Date | February 23, 2020 |
| Published in Issue | Year 2020 Volume: 17 Issue: 1 |
