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Journals / Perinatoloji Dergisi / 2006 / Cilt: 14 - Sayı: 4

Bilateral lower extremity agenesis: Case report and importance of transvaginal sonograpy in early antenatal diagnosis of fetal anomalies

Bilateral alt ekstremite agenezisi: Olgu sunumu ve fetal anomalilerin erken tanısında transvajinal sonografinin önemi

Tuncay NAS
Pınar Özcan KESKİN
Ercan YILMAZ
Aydan BİRİ
Fırat MUTLU
Rıfat GÜRSOY
Pages
208–210
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Therefore, everyone should get benefit from this technique in early pregnancy.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Background: To present bilateral lower extremity agenesis which is a rare anomaly and to point out importance of transvaginal sonography (TVS) for the antenatal diagnosis of such anomalies during early in pregnancy.
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Key Findings & Data:Case: A 25 year-old pregnant woman admitted to our department for first trimester nuchal translucency screening sonography.
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Conclusion & Impact:Therefore, everyone should get benefit from this technique in early pregnancy.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Kadın · Alt ekstremite · Ultrasonografi

Abstract

Background: To present bilateral lower extremity agenesis which is a rare anomaly and to point out importance of transvaginal sonography (TVS) for the antenatal diagnosis of such anomalies during early in pregnancy. Case: A 25 year-old pregnant woman admitted to our department for first trimester nuchal translucency screening sonography. TVS revealed a 12 weeks and 2 days fetus with positive cardiac activity. Nuchal translucency was measured 1.6 mm. During sonographic fetal anatomic screening absence of bilateral lower extremities were detected. Cranium, thorax, abdominal structures and upper extremities were normal. When the family informed, termination of the pregnancy was decided. After the termination, macroscopic examination of the fetus revealed absence of lower extremities. Conclusion: TVS is a very useful tool for the antenatal diagnosis of major fetal anomalies like extremity agenesis during the first trimester. Therefore, everyone should get benefit from this technique in early pregnancy.

Özet

Amaç: Nadir bir anomali olan bilateral alt ekstremite agenezi olgusunun prenatal erken tanısı ve gebelikte transvajinal sonografinin (TVS) öneminin vurgulanması. Olgu: Yirmibeş yaşında, gravida 1, parite 0 ve antenatal takipte olan 12 hafta 2 gün gebede ense saydamlığı ölçümü için TVS de ense saydamlığı 1,6 mm tek canlı fetus izlendi TVS sırasında fetal anatomi incelendiğinde bilateral alt extremitelerin olmadığı tespit edildi. Üst ekstremiteleri, kranial yapılar, thorax, abdominal yapılar doğal olarak izlendi. Aileye gerekli bilgilendirme yapıldı ve ailenin isteği doğrultusunda gebelik sonlandırıldı. Fetusun makroskopik incelenmesinde alt ekstremitelerin total olarak gelişmediği izlendi. Sonuç: TVS ekstremite agenezi gibi major anomalilerin antenatal tanısının mümkün olduğu 1. trimesterde anatomik yapıların görülmesi açısından son derece yararlı ve yardımcı bir yöntemdir. Bu nedenle gebeliğin bu döneminde her hekimin tereddüt etmeden rahatlıkla kullanması gerektiği kanısındayız.

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Cite This Article

NAS, T., KESKİN, P. Ö., YILMAZ, E., BİRİ, A., MUTLU, F., GÜRSOY, R. (2006). Bilateral lower extremity agenesis: Case report and importance of transvaginal sonograpy in early antenatal diagnosis of fetal anomalies. Perinatoloji Dergisi, Cilt: 14 - Sayı: 4, 208–210. https://ajindex.com/articles/300353

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References (14)

  1. Timor-Tritsch, I.E., Blumenfeld, Z., Rottem, S. Sonoembryology. In: Timor-Tritsch, I.E., Rottem, S.(Eds). Transvaginal Sonography, New York: Elsevier. 1991, p:225-98
  2. Pilu G, Nicolaides KH (1999). Standard views for examination of the fetus. In Diagnosis of fetal abnormalities: The 18-23 Weeks Scan, Pilu G, Nicolaides KH (eds). Parthenon Publishing: London. 1999, p:3-4
  3. Rishsingani A, Yankowitz J, Mazursky J, Williamson R. Prenatal ultrasound diagnosis of amelia. Prenat Diagn 1995; 15(7): 655-9
  4. Hernadi L, Torocsick M. Screening for fetal anomalies in the 12th week of pregnancy by transvaginal sonography in an unselected population. Prenat Diagn 1997; 17: 753-6
  5. Ghosh G, Gupta S. Amelia with anorectal and external genital atresia. Indian Pediatr 2004; 41(12):1267
  6. Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Am J Med Genet 2001; 103(4): 295-301
  7. Cserni G, Tanko A. Limb-body wall malformation complex: an unusual developmental abnormality of the abdominal wall. Case report, clinicopathological and etiological implications. Orv Hetil 1997; 138(15): 931-7
  8. Froster-Iskenius UG, Baird PA. Amelia: incidence and associated defects in a large population. Teratology 1990; 41(1): 23-31
  9. Timor-Tritsch IE, Peisner DB, Raju S. Sonoembryology: An organoriented approach using a high-frequency vaginal probe. J Clin Ultrasound 1990; 18: 286-98
  10. Rosati P, Guariglia L. Transvaginal fetal biometry in early pregnancy. Early Hum Dev 1997; 49: 91-6
  11. Economides DL, Braithwaite JM. First trimester ultrasonographicdiagnosis of fetal abnormalities in a low-risk population. Br J Obstet Gynaecol 1998; 105: 53-7
  12. Whitlow BJ, Chatzipapas IK, Lazanakis ML, Kadir RA, Economide DL. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population. Br J Obstet Gynaecol 1999; 106: 929-36
  13. Rottem S, Bronshtein M. Transvaginal sonographic diagnosis ofcongenital anomalies between 9 weeks and 16 weeks, menstrual age. J Clin Ultrasound 1990; 18: 307-14
  14. Gaffney G, Manning N, Boyd PA, Rai V, Gould S, Chamberlain P. Prenatal sonographic diagnosis of skeletal dysplasias: A report of the diagnostic and prognostic accuracy in 35 cases. Prenat Diagn 1998; 18: 357-62.