Fetal ultrasonografide down sendromu sendromu şüphesi uyandıran görüntüler

Yıl 2024, Cilt: 15 Sayı: 2, 304 - 308, 01.07.2024

Süheyla Aydoğmuş Sümeyye Nur Ünsal Murat Gözüküçük

https://doi.org/10.18663/tjcl.1474973

Öz

Fetal ultrasonografi doğum öncesi bakımın bir parçası olarak görülmekle birlikte sıklıkla ilk üç ayda yapılması önerilmektedir. Genel olarak fetusun ultrasonografiyle incelenmesinin amacı en uygun doğum öncesi bakımın sağlanması ve fetüsün erken dönemdeki gelişimini belirlemektir. Down sendromu canlı doğumlarda en sık rastlanan kromozomal anomalidir ve yaklaşık olarak 1/1000 oranında görülmektedir. Gebe takiplerindeki temel amaç; fetüste meydana gelebilecek olan hastalıkları takip etmek ve bu hastalıklarla ilgili aileye gereken durumlarda genetik danışmanlık vermektir.

Anahtar Kelimeler

Genetik danışmanlık, down sendromu, ense kalınlığı, nazal kemik, nukal fold, hiperekojen bağırsak

Images that raise suspicion of down syndrome in fetal ultrasonography

Öz

Although fetal ultrasonography is considered a part of prenatal care, it is often recommended to be performed in the first three months. In general, the purpose of examining the fetus with ultrasonography is to provide the most appropriate prenatal care and to determine the early development of the fetus. Down syndrome is the most common chromosomal anomaly in live births and is seen in approximately 1/1000. The main purpose of pregnancy follow-up is to monitor the diseases that may occur in the fetus and to provide genetic counseling to the family regarding these diseases when necessary.

Anahtar Kelimeler

Genetic counselling, down syndrome, nuchal translucency, nasal bone, nuchal fold, hyperechoic bowel.

Kaynakça

• Rumi Kataguiri M, Araujo Júnior E, Silva Bussamra LC, Nardozza LM, Fernandes Moron A. Influence of secondtrimester ultrasound markers for Down syndrome in pregnant women of advanced maternal age. J Pregnancy. 2014; 2014:785730.
• M. Jenkins T, J Wapner R, Chapter 18 Prenatal Diagnosis of Congenital Disorder. Maternal Fetal Medicine Principles and Pratice Fifth Edition 2004;235-280.
• The Prenatal Information Research Consortium. Erişim Tarihi: 4 Aralık 2020. Available from: https://prenatalinformation. org/2016/04/29/acog-issues-new-prenatal- testing-guidelines/
• A. Been Py M. kaminsky L, Ying J, F. Borgida A, F. X Egan, Combined Second- Trimester Biochemical and Ultrasound Screening For Down Syndrome. obstet Gynecol: 2002;100:1168-1176
• Bahado-Sıngh R. O, OZ. A.U, Gömez K, Copel H. J, Baumgarten a, Mahoney M. J, Combined Ultrasound biometry, serum markers and age for down syndrome risk estimation Ultrasound Obstet Gynecol 2000;15:199-204.
• DeVore GR. 2000. Trisomy 21: 91% detection rate using second-trimester ultrasound markers. Ultrasound Obstet Gynecol 13: 133–141.
• 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.
• 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. 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.
• 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.
• Chauhan SP, Gupta LM, Hendrix NW, Berghella V; American College of Obstetricians and Gynecologists. Intrauterine growth restriction: comparison of American College of Obstetricians and Gynecologists practice bulletin with other national guidelines. Am J Obstet Gynecol 2009;200:409.e1–6.
• Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013;41:247-61.
• Goynumer G, Arisoy R, Turkmen O, Yayla M. Fetal nuchal skin-fold thickness during the 2nd trimester of pregnancy. J Obstet Gynaecol. 2015;35:111-4.
• Doç. Dr. Yavuz ŞİMŞEK- TJOD Toplantısı (2017).
• ISUOG Guidelines. Cardiac screening examination of the fetus: guidelines for performing the ‘basic’ and ‘extended basic’ cardiac scan. Ultrasound Obstet Gynecol 2006; 27: 107-13.
• Sonek J, Croom C. Second trimester ultrasound markers of fetal aneuploidy. Clin Obstet Gynecol. 2014 Mar;57(1):159-81.
• Stamm ER and Drose JA. The Fetal Heart. In: Rumack CM, Wilson SR, Charboneau, Levine D. editors. Diagnostic Ultrasound. Elsevier; 2011:p.1294-326.
• Levine D. Overview of Obstetric Imaging. In: Rumack CM, Wilson SR, Charboneau, Levine D. editors. Diagnostic Ultrasound. Elsevier; 2011:p.1040-60.
• O. Bahado-Singh R, oz U, Kovancı E, Çermik D, Flores D, Copel J. Mahoney M, Cole L, NewTriple Screen Test for Down Syndrome: Combined UrineAnalytes and Serum AFP. J. Matern.-Fetal Med.: 1998;7:111-114.
• 2- ACOG committee opinion. No. 296. First trimester screening for fetal aneuploidy. Obstet Gynecol 2004;104:215-217