İkinci Trimester Tarama Ultrasonografisinde Anöploidi ve Sonografik Belirteçler

Öz

Bu çalışmanın amacı rutin ikinci trimester ultrasonografisinde saptanan belirteç ve anomalilerin başta trizomi 21 olmak üzere karyotip anomalilerinin tanısındaki etkinliklerini araştırmaktır. Rutin tarama amacıyla on yıllık süre içinde hastanemize refere edilen ve ikinci trimesterde ayrıntılı ultrasonografik inceleme yapılan gebelerin ultrasonografi raporları retrospektif olarak incelendi. İnvazif test sonuçları, majör konjenital anomaliler ve sonografik belirteçler not edildi. Karyotip anomalisi saptanan olgular çalışma grubunu diğer olgular kontrol grubunu oluşturdu. Toplam 4512 sonografik inceleme analiz edildi. Çalışma grubunu invazif işlem yapılarak karyotip anomalisi tanısı almış 76 olgu (%1,7) oluşturdu. Diğer 4436 (%98,3) olgu ise kontrol grubunu oluşturdu. Karyotip anomalisi olan fetüslerde belirteçlerinin görülme sıklığı %1,3-%32,9 oranındaydı. Artmış ense pili kalınlığı karyotip anomalisi saptanan olguların %32,9’unda, karyotip anomalisi saptanmayan olguların %1,8’inde saptandı (RR:18). Ense pilisi kalınlığında artma trizomi 13’de %66,7, trisomi 21’de %43,7 ve trisomi 18’de %25 oranlarında saptandı. En yüksek pozitif olabilirlik oranı (104.9) ve odds oranı (27.6) artmış ense pilisi kalınlığı ile birlikteydi. Karyotip anomalisi açısından ikinci en duyarlı belirteç femur kısalığı olarak bulundu. En sık izlenen majör anomaliler ventrikülomegali, duodenal atrezi, kistik higroma, hidrops fetalis, omfolosel ve çeşitli kardiyak patolojiler idi. Sonuç olarak rutin ikinci tirmester ultrasonografisi ile tanımlanan sonografik belirteçlerle anöploidi taraması son derece sınırlı etkinliğe sahiptir.

Anahtar Kelimeler

• Anöploidi
• ,ikinci trimester,
• ultrason
• marker

Fetal Aneuploidy and Sonographic Findings in Second Trimester Screening

Öz

The aim of this study is to investigate the effectiveness of sonographic findings and soft markers in diagnosis of fetal chromosomal abnormalities in second trimester. Pregnant women referred to our hospital for routine midtrimester sonographic scan were included in the study. Medical records of the pregnant women were retrospectively analyzed during ten years period. Soft markers, major congenital abnormalities and diagnostic test results were noted. Fetuses with chromosomal abnormalities were in the study group and others were in the control group. A total of 4512 ultrasound records were retrospectively analyzed. Study group consisted of 76 (%1,7) fetuses with chromosomal abnormality. Control group consisted of 4436 (%98,3) fetuses. Sonographic markers were seen in 1,3- 32,9 % of fetuses with chromosomal abnormality. The rate of increased nuchal thickness was 32.9 and 1.8 in study and control group. Increased nuchal thickness was seen in 66.7% of trisomy 13 and 43.7 % of trisomy 21 and 25% of trisomy 18. Increased nuchal thickness was the most prominent finding with the highest positive likelihood (104.9) and odds ratio (27.6). The short femur length was the second leading finding in fetuses with chromosomal abnormalities. Major congenital abnormalities associated with fetal chromosomal abnormalities were ventriculomegaly, duodenal atresia, cystic hygroma omphalocele, hydrops fetalis and complex cardiac abnormalities. In conclusion, routine midtrimester ultrasound scan has limited effectiveness on the diagnosis of fetal chromosomal abnormalities.

Anahtar Kelimeler

• Aneuploidy,
• , second trimester,
• ultrasound,

Kaynakça

1. 1. Liu L, Zhou P, Cao Z, Tan X. Middle pregnancy ultrasound screening for fetal chromosomal diseases. Mol Med Rep. 2017 Nov;16(5):7641-7648.
2. 2. Rumi Kataguiri M, Araujo Júnior E, Silva Bussamra LC, Nardozza LM, Fernandes Moron A. Influence of second-trimester ultrasound markers for Down syndrome in pregnant women of advanced maternal age. J Pregnancy. 2014; 2014:785730.
3. 3. Zhong Y, Longman R, Bradshaw R, Odibo AO. The genetic sonogram:comparing the use of likelihood ratios versus logistic regression coefficients for Down syndrome screening. J Ultrasound Med. 2011 Apr;30(4):463-9.
4. 4. Rink BD, Norton ME. Screening for fetal aneuploidy. Semin Perinatol. 2016 Feb;40(1):35-43.
5. 5. Rao R, Platt LD. Ultrasound screening: Status of markers and efficacy of screening for structural abnormalities. Semin Perinatol. 2016 Feb;40(1):67-78.
6. 6. Benacerraf BR. The role of the second trimester genetic sonogram in screening for fetal Down syndrome. Semin Perinatol. 2005 Dec;29(6):386-94.
7. 7. Benacerraf BR. The history of the second-trimester sonographic markers for detecting fetal Down syndrome, and their current role in obstetric practice. Prenat Diagn. 2010 Jul;30(7):644-52.
8. 8. Bottalico JN, Chen X, Tartaglia M, Rosario B, Yarabothu D, Nelson L.Second-trimester genetic sonogram for detection of fetal chromosomal abnormalities in a community-based antenatal testing unit. Ultrasound Obstet Gynecol. 2009 Feb;33(2):161-8.

9. 9. Shipp TD, Benacerraf BR. Second trimester ultrasound screening for chromosomal abnormalities. Prenat Diagn. 2002 Apr;22(4):296-307.
10. 10. Sonek J, Croom C. Second trimester ultrasound markers of fetal aneuploidy. Clin Obstet Gynecol. 2014 Mar;57(1):159-81.
11. 11. Odibo AO, Sehdev HM, Gerkowicz S, Stamilio DM, Macones GA. Comparison of the efficiency of second-trimester nasal bone hypoplasia and increased nuchal fold in Down syndrome screening. Am J Obstet Gynecol. 2008 Sep;199(3): 281.e1-5.
12. 12. D A. Nyberg and V. L. Souter, “Use of genetic sonography for adjusting the risk for fetal Down syndrome,” Seminars in Perinatology. 2003: 27 (2); 130–144.
13. 13. A M. Vintzileos, C. V. Ananth, J. C. Smulian, D. L. Day-Salvatore, T. Beazoglou, and R. A. Knuppel, “Cost-benefit analysis of prenatal diagnosis for Down syndrome using the British or the American approach,” Obstetrics and Gynecology. 2000;95(4): 577–583.
14. 14. B. Bromley, E. Lieberman, T. D. Shipp, and B. R. Benacerraf, “The genetic sonogram: a method of risk assessment for Down syndrome in the second trimester,” Journal of Ultrasound in Medicine. 2002; 21(10):1087–1096.
15. 15. Benacerraf BR, Barss VA, Laboda LA: A sonographic sign for the detection in the second trimester of the fetus with Down’s syndrome. Am J Obstet Gynecol. 1985; 151:1078-1079.
16. 16. Crane JP, Gray DL. Sonographically measured nuchal skinfold thickness as a screening tool for Down syndrome: results of a prospective clinical trial. Obstet Gynecol. 1991;77(4):533–536.
17. 17. Nyberg DA, Souter VL, El-Bastawissi A, Young S, Luthhardt F, Luthy DA. Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med. 2001;20(10):1053–1063.
18. 18. Bromley B, Lieberman E, Shipp TD, Richardson M, Benacerraf BR. Significance of an echogenic intracardiac focus in fetuses at high and low risk for aneuploidy. J Ultrasound Med. 1998;17 (2):127–131.
19. 19. Bethune M. Literature review and suggested protocol for managing ultrasound soft markers for Down syndrome: thickened nuchal fold, echogenic bowel, shortened femur, shortened humerus, pyelectasis and absent or hypoplastic nasal bone. Australas Radiol. 2007;51(3):218-25.
20. 20. Bromley B, Lieberman E, Shipp TD, Benacerraf BR. Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med. 2002 Dec;21(12):1387-94. Erratum in: J Ultrasound Med. 2003;22(2):162.
21. 21. Stempfle N, Huten Y, Fredouille C, Brisse H, Nessmann C. Skeletal abnormalities in fetuses with Down’s syndrome: a radiographic post-mortem study. Pediatr Radiol 1999; 29:682–688.
22. 22. Bromley B, Lieberman E, Shipp TD, Benacerraf BR. Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med. 2002; 12: 1387–94.
23. 23. Keeling JW, Hansen BF, Kjaer I. Pattern of malformations in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet. 1997; 68:466–471.
24. 24. Benacerraf BR, Frigoletto FD Jr, Cramer DW: Down syndrome: sonographic sign for diagnosis in the second-trimester fetus. Radiology. 1987; 163:811-813.
25. 25. Benacerraf BR, Mandell J, EstroffJ A, Harlow BL, Frigoletto FD. Fetal pyelectasis: a possible association with Down syndrome. Obstet Gynecol. 1990;76(1):58–60.
26. 26. Odibo AO, Ghidini A. Role of the second-trimester ‘genetic sonogram’ for Down syndrome screen in the era of first-trimester screening and non-invasive prenatal testing. Prenat Diagn. 2014;34(6):511–517.
27. 27. Rembouskos G, Cicero S, Longo D, Sacchini C, Nicolaides KH. Single umbilical artery at 11-14weeks’ gestation: relation to chromosomal defects. Ultrasound Obstet Gynecol. 2003;22 (6):567–570.
28. 28. Dagklis T, De figueiredo D, Staboulidou I, Casagrandi D, Nicolaides KH. Isolated single umbilical artery and fetal karyotype. Ultrasound Obstet Gynecol. 2010;36(3):291–295.
29. 29. Granese R, Coco C, Jeanty P. The value of single umbilical artery in the prediction of fetal aneuploidy: findings in12,672 pregnant women. Ultrasound Q. 2007;23(2):117–121.
30. 30. Chen CP. Prenatal sonographic features of fetuses in trisomy 13 pregnancies (IV). Taiwan J Obstet Gynecol. 2010;49(1):3-12.
31. 31. Lehman CD, Nyberg DA, Winter TC III, Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: prenatal US findings in a review of 33 cases. Radiology. 1995;194 (1): 217–222.
32. 32. Nyberg DA, Souter VL. Sonographic markers of fetal trisomies: second trimester. J Ultrasound Med. 2001;20(6):655-74.
33. 33. Nyberg. Nyberg DA, Kramer D, Resta RG, et al. Prenatal sonographic findings of trisomy 18: review of 47 cases. J Ultrasound Med. 1993 Feb; 12 (2): 103–113.