İkinci trimesterde saptanan fetal anöploidili fetüslerde ultrasonografik bulgular: Zekai Tahir Burak Eğitim Araştırma Hastanesi perinatoloji kliniği verileri
Öz
Özet
Amaç. Çalışmamızın amacı perinatoloji kliniği antenatal polikliniğinde izlenen hastalarda tespit edilen fetal kromozomal defektlerine eşlik eden majör yapısal anomaliler ile minör ultrasonografik belirteçlerin insidansının belirlenmesidir. Yöntem. 2007-2010 tarihleri arasında merkezimizde yapılan toplam 4646 prenatal karyotiplemeden 177 (%3,8) tanesinde anormal karyotip sonucu rapor edilmiştir. Bu hastalardan takibini başka merkezde sürdürmek isteyen hastalar çalışma dışında bırakılmıştır. Anormal karyotip tespit edilmiş olarak kliniğimize dış merkezlerden gönderilen hastalar ile birlikte tıbbi tahliye istemi ile hastanemiz sağlık kuruluna başvuran 106 hasta ultrasonografik belirteçler açısından ayrıntılı olarak tekrar değerlendirilmiştir. Bulgular. Belirlenen majör kromozomal defektler; Trizomi 21 (n=73), Trizomi 18 (n=15), Trizomi 13 (n=5) ve Turner Sendromu (n=13)’dur. Trizomi 21 ve trizomi 18 izlenen fetüslerde kardiyak anomaliler, Turner Sendromlu fetüslerde ise kistik higroma en sık izlenen majör yapısal anomalidir. Trizomi 13’lü fetüslerde en sık izlenen yapısal anomaliler sırasıyla santral sinir sistemi, kardiyak ve yüz anomalileridir ve bu fetüslerin %40’ında intrauterin gelişme geriliği (IUGG) saptanmıştır. Minör ultrasonografik belirteçler değerlendirildiğinde ise artmış ense kalınlığı anöploidilerin öngörülmesinde en önemli belirteçtir. Trizomi 21 tanısı alan olguların %37’sinde sonografik belirteç tespit edilememiştir. Sonuç. Trizomi 13 ve 18 çok yüksek oranda sonografik bulgu veren anöploidilerdir. Trizomi 21 olgularının ise önemli bir kısmında sonografik belirteç tespit edilememektedir. Bu yüzden sonografik bulgular ile 1. ve 2. trimester serum biyokimyasal tarama testlerinin birlikte kullanımı yapısal kromozomal anomalilerin tespit edilebilme şansını artıracaktır.
Anahtar sözcükler: Anöploidi, ultrasonografi, amniyosentez
Abstract
Aim. The aim of this study is to determine the incidences of major structural anomalies and minor ultrasonographic markers identified during second trimester ultrasonography in aneuploidic fetuses in a perinatology clinic. Method. Between the years 2007 and 2010, a total number of 4646 prenatal karyotyping were evaluated in our center. 177 of 4646 (3.8%) karyotypings were reported as abnormal. The patients who were lost to antenatal follow up in our center were excluded. The patients with abnormal chromosomal karyotyping test results who refered from the other centers and the patients who applied for pregnancy termination (n=106) were analyzed for the minor ultrasonographic markers at our perinatology outpatient clinic. The patients in the study group were reexamined by targeted second trimester obstetric sonography. Major structural anomalies and minor ultrasonographic markers were identified. Results. The major chromosomal anomalies we detected were; trisomy 21 (n=73), trisomy 18 (n=15), trisomy 13 (n=5) and Turner Syndrome (n=13). Central nervous system (CNS) anomalies were the most common major structural anomalies in fetuses with trisomy 21. In fetuses with trisomy 18, cardiac anomalies were the leading defect. Cystic hygroma was more common in Turner Syndrome. In fetuses with trisomy 13, CNS, cardiac and facial anomalies’ incidences were higher and 40% of these fetuses had intrauterine growth retardation (IUGR). When minor ultrasongraphic signs were evaluated, nuchal thickening was the most valuable minor marker for aneuploidy prediction. Neither major structural anomalies nor minor ultrasonographic sings were detected in 37% of fetuses with trisomy 21. Conclusion. Major or minor sonographic findings are frequently evident in second trimester sonography in fetuses with Trisomy 13 and 18. But in a high percentage of trisomy 21 fetuses we couldn’t detect any sonographic finding. We conclude that, an integrated approach that evaluates the first and second trimester serum biochemical screening tests and second trimester targeted sonography will result in a higher incidence of diagnosis of fetal aneuploidies.
Keywords: Aneuploidy, ultrasonography, amniosynthesis
Anahtar Kelimeler
Kaynakça
- Scott F, Peters H, Boogert T, Robertson R, Anderson J, McLennan A, Kesby G, Edelman D. The loss rates for invasive prenatal testing in a specialised obstetric ultrasound practice. Aust N Z J Obstet Gynaecol 2002; 42: 55-8.
- Nyberg DA, Souter VL. Sonographic markers of fetal aneuploidy. Clin Perinatol 2000; 27: 761-89.
- Benacerraf BR, Neuberg D, Bromley B, Frigoletto FD Jr. Sonographic scoring index for prenatal detection of chromosomal abnormalities. J Ultrasound Med 1992; 11: 449-58.
- Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA. The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21. Obstet Gynecol 1996; 87: 948-52.
- Adams MM, Erickson JD, Layde PM, Oakley GP. Down's syndrome. Recent trends in the United States. JAMA 1981; 246 758-60.
- The California Expanded AFP Screening Program: Prenatal Care Provider Handbook. Berkeley (CA): California. Dept. of Health Services. Genetic Disease Branch; 1997.
- McGahan JP, Nyberg DA, Mack LA. Sonography of facial features of alobar and semilobar holoprosencephaly. AJR 1990; 154: 143-8.
- 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 Obtet Gynecol 2009; 33: 161-8.
- Nyberg DA, Souter VL. Sonographic markers of fetal trisomies: second trimester. J Ultrason Med 2001; 20: 655-74.
- Taslimi MM, Acosta R, Chueh J, Hudgins L, Hunter K, Druzin ML, Chitkara U. Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics. J Ultrasound Med 2005; 24: 811-5.
- DeVore GR. Second trimester ultrasonography may identify 77 to 97% of fetuses with trisomy 18. J Ultrasound Med 2000; 19: 565-76.
- Papp C, Szigeti Z, Tóth-Pál E, Hajdş J, Joó JG, Papp Z. Ultrasonographic findings of fetal aneuploidies in the second trimester--our experiences. Fetal Diagn Ther 2008; 23: 105-13.
- Yoder PR, Sabbagha RE, Gross SJ, Zelop CM. The second-trimester fetus with isolated choroid plexus cysts: a meta-analysis of risk of trisomies 18 and 21. Obstet Gynecol 1999; 93(5 Pt 2): 869-72.
- Hook EB, Lindsjo A. Down syndrome in live births by single year maternal age interval in a Swedish study: comparison with results from a New York State study. Am J Hum Genet 1978; 30: 19-27.
- Benacerraf BR, Nadel A, Bromley B. Identification of second-trimester fetuses with autosomal trisomy by use of a sonographic scoring index. Radiology 1994; 193: 135-40.
- Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second- trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA 2001; 285: 1044-55.
- DeVore GR, Romero R. Combined use of genetic sonography and maternal serum triple-marker screening: an effective method for increasing the detection of trisomy 21 in women younger than 35 years. J Ultrasound Med 2001; 20: 645-54.
- Kallen B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet 1996; 65: 160-6.
- 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; 21: 1387-94.
- Taner CE, Aygören MO, Kayar İ, Derin G. Down sendromlu olgularda ultrasonografik bulgular. Perinatoloji Dergisi 2009; 17: 65-9.
- Shields LE, Carpenter LA, Smith KM, Nghiem HV. Ultrasonographic diagnosis of trisomy 18: Is it practical in the early second trimester? J Ultrasound Med 1998; 17: 327-31.
Öz
Kaynakça
- Scott F, Peters H, Boogert T, Robertson R, Anderson J, McLennan A, Kesby G, Edelman D. The loss rates for invasive prenatal testing in a specialised obstetric ultrasound practice. Aust N Z J Obstet Gynaecol 2002; 42: 55-8.
- Nyberg DA, Souter VL. Sonographic markers of fetal aneuploidy. Clin Perinatol 2000; 27: 761-89.
- Benacerraf BR, Neuberg D, Bromley B, Frigoletto FD Jr. Sonographic scoring index for prenatal detection of chromosomal abnormalities. J Ultrasound Med 1992; 11: 449-58.
- Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA. The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21. Obstet Gynecol 1996; 87: 948-52.
- Adams MM, Erickson JD, Layde PM, Oakley GP. Down's syndrome. Recent trends in the United States. JAMA 1981; 246 758-60.
- The California Expanded AFP Screening Program: Prenatal Care Provider Handbook. Berkeley (CA): California. Dept. of Health Services. Genetic Disease Branch; 1997.
- McGahan JP, Nyberg DA, Mack LA. Sonography of facial features of alobar and semilobar holoprosencephaly. AJR 1990; 154: 143-8.
- 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 Obtet Gynecol 2009; 33: 161-8.
- Nyberg DA, Souter VL. Sonographic markers of fetal trisomies: second trimester. J Ultrason Med 2001; 20: 655-74.
- Taslimi MM, Acosta R, Chueh J, Hudgins L, Hunter K, Druzin ML, Chitkara U. Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics. J Ultrasound Med 2005; 24: 811-5.
- DeVore GR. Second trimester ultrasonography may identify 77 to 97% of fetuses with trisomy 18. J Ultrasound Med 2000; 19: 565-76.
- Papp C, Szigeti Z, Tóth-Pál E, Hajdş J, Joó JG, Papp Z. Ultrasonographic findings of fetal aneuploidies in the second trimester--our experiences. Fetal Diagn Ther 2008; 23: 105-13.
- Yoder PR, Sabbagha RE, Gross SJ, Zelop CM. The second-trimester fetus with isolated choroid plexus cysts: a meta-analysis of risk of trisomies 18 and 21. Obstet Gynecol 1999; 93(5 Pt 2): 869-72.
- Hook EB, Lindsjo A. Down syndrome in live births by single year maternal age interval in a Swedish study: comparison with results from a New York State study. Am J Hum Genet 1978; 30: 19-27.
- Benacerraf BR, Nadel A, Bromley B. Identification of second-trimester fetuses with autosomal trisomy by use of a sonographic scoring index. Radiology 1994; 193: 135-40.
- Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second- trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA 2001; 285: 1044-55.
- DeVore GR, Romero R. Combined use of genetic sonography and maternal serum triple-marker screening: an effective method for increasing the detection of trisomy 21 in women younger than 35 years. J Ultrasound Med 2001; 20: 645-54.
- Kallen B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet 1996; 65: 160-6.
- 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; 21: 1387-94.
- Taner CE, Aygören MO, Kayar İ, Derin G. Down sendromlu olgularda ultrasonografik bulgular. Perinatoloji Dergisi 2009; 17: 65-9.
- Shields LE, Carpenter LA, Smith KM, Nghiem HV. Ultrasonographic diagnosis of trisomy 18: Is it practical in the early second trimester? J Ultrasound Med 1998; 17: 327-31.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Cerrahi Tıp Bilimleri Araştırma Yazıları |
| Yazarlar | |
| Yayımlanma Tarihi | 27 Mart 2012 |
| Yayımlandığı Sayı | Yıl 2012Cilt: 34 Sayı: 1 |