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Prenatal Diagnosis of Body Stalk Anomaly: A Case Report+

Year 2007, Volume: 14 Issue: 4, 257 - 259, 01.08.2007

Abstract

Body stalk anomaly is a rare developmental anomaly characterized by an enlarged abdominal wall defect, severe kyphoscoliosis and a rudimentary umbilical cord. It is often complicated by anomalies of head, face and extremities. It is diagnosed by ultrasonography, mostly in the second trimester of pregnancy during gestational age dating or evaluation of an elevated maternal serum α-fetoprotein. We present a case of body stalk anomaly at 23 weeks of gestation, diagnosed incidentally during sonographic evaluation in the first visit. Sonographic features of the fetus were severe midline defect of the fetal abdominal wall and a large extra-abdominal mass containing bowel and liver inside, severe scoliosis, clubfoot, absent urinary bladder and oligohydramnios. Body stalk anomaly is accepted as a fatal anomaly, so it's important to differentiate it from other anterior wall defects for evaluating the management options. Key words: Body stalk anomaly, prenatal diagnosis

References

  • Van Allen MI, Curry C, Gallagher L. Limb body wall complex: I. Pathogenesis. Am J Med Genet. 1987; 28:529-48.
  • Van Allen MI, Curry C, Walden CE et al. Limb-body wall complex: II. Limb and spine defects. Am J Med Genet. 1987; 28:549-65.
  • Colpaert C, Bogers J, Hertveldt K et al.Limb-body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord. Pathol Res Pract. 2000; 196:783-90.
  • Daskalakis G, Sebire NJ, Jurkovic D et al. Body stalk anomaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol. 1997; 10:416-8.
  • Forrester MB, Merz RD. Epidemiology of abdominal wall defects, Hawaii, 1986- 1997. Teratology. 1999;60:117-23.
  • Miller ME, Graham JM Jr, Higginbottom MC et al. Compression-related defects from early amnion rupture: evidence for mechanical teratogenesis. J Pediatr. 1981; 98:292- 7.
  • Streeter G. Focal deficiencies in fetal tissues and their relation to intrauterine amputations. Contrib Embryol Carnegie Inst 1930; 22:1-44.
  • Paul C, Zosmer N, Jurkovic D, Nicolaides K. A case of body stalk anomaly at 10 weeks of gestation. Ultrasound Obstet Gynecol. 2001; 17:157-9.
  • Ginsberg NE, Cadkin A, Strom C. Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy. Ultrasound Obstet Gynecol. 1997; 10:419-21.
  • Lockwood CJ, Scioscia AL, Hobbins JC. Congenital absence of the umbilical cord resulting from maldevelopment of embryonic body folding. Am J Obstet Gynecol. 1986; 155:1049-51.
  • Smrcek JM, Germer U, Krokowski M et al. Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies. Ultrasound Obstet Gynecol. 2003;21:322-8.
  • Solerte L. Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus: clinical evidence for counseling. J Matern Fetal Neonatal Med. 2006; 19:109-12.
  • Chan Y, Silverman N, Jackson L et al. Maternal uniparental disomy of chromosome 16 and body stalk anomaly. Am J Med Genet. 2000; 94:284-6.
  • Hirokawa S, Uotani H, Futatani T et al. A case of body stalk anomaly arising in the second baby of a triplet pregnancy after in-vitro fertilization and embryo transfer.Pediatr Surg Int. 2003; 19:223-5.
  • Kurosawa K, Imaizumi K, Masuno M et al. Epidemiology of limb-body wall complex in Japan. Am J Med Genet. 1994; 51:143-6.
  • Kanamori Y, Hashizume K, Sugiyama M et al. Long-term survival of a baby with body stalk anomaly: report of a case. Surg Today. 2007;37:30-3. Correspondence to:
  • Yrd.Doç.Dr.Ilgın TÜRKÇÜOĞLU
  • İnönü University School of Medicine
  • Department of Obstetrics and Gynecology, Malatya, Turkey. Fax : 422 341 0728
  • Tel : 422 341 0660-4705
  • E-Posta : dr.ilgin@yahoo.com

Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi

Year 2007, Volume: 14 Issue: 4, 257 - 259, 01.08.2007

Abstract

“Body Stalk Anomali” geniş karın ön duvarı defekti, ciddi kifoskolyoz ve rudimenter umblikal kord ile karakterize, nadir görülen gelişimsel bir anomalidir. Genellikle baş, yüz ve ekstremite anomalileri eşlik eder. Sıklıkla gebeliğin ikinci trimesterinde, gestasyonel yaş tayini ya da artmış maternal serum alfa-fetoprotein araştırması esnasında ultrasonografi ile tanı koyulur. Yazımızda gebeliğin 23. haftasında, ilk vizitte ultrasonografi ile tesadüfen tanı koyulmuş body stalk anomalisi vakası sunulmaktadır. Vakanın ultrasonografik bulguları fetusta karın ön duvarında ciddi orta hat defekti ve içerisinde karaciğer ve barsak bulunan abdomen dışında geniş kitle, ciddi skolyoz, clubfoot, idrar torbasının olmaması ve oligohidramniyozdur. Body stalk anomali ölümcül olarak kabul edilmektedir ve tedavi planının yapılabilmesi için diğer karın ön duvarı defektlerinden ayırt edilmelidir. Anahtar kelimeler: Body stalk anomali, prenatal tanı.

References

  • Van Allen MI, Curry C, Gallagher L. Limb body wall complex: I. Pathogenesis. Am J Med Genet. 1987; 28:529-48.
  • Van Allen MI, Curry C, Walden CE et al. Limb-body wall complex: II. Limb and spine defects. Am J Med Genet. 1987; 28:549-65.
  • Colpaert C, Bogers J, Hertveldt K et al.Limb-body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord. Pathol Res Pract. 2000; 196:783-90.
  • Daskalakis G, Sebire NJ, Jurkovic D et al. Body stalk anomaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol. 1997; 10:416-8.
  • Forrester MB, Merz RD. Epidemiology of abdominal wall defects, Hawaii, 1986- 1997. Teratology. 1999;60:117-23.
  • Miller ME, Graham JM Jr, Higginbottom MC et al. Compression-related defects from early amnion rupture: evidence for mechanical teratogenesis. J Pediatr. 1981; 98:292- 7.
  • Streeter G. Focal deficiencies in fetal tissues and their relation to intrauterine amputations. Contrib Embryol Carnegie Inst 1930; 22:1-44.
  • Paul C, Zosmer N, Jurkovic D, Nicolaides K. A case of body stalk anomaly at 10 weeks of gestation. Ultrasound Obstet Gynecol. 2001; 17:157-9.
  • Ginsberg NE, Cadkin A, Strom C. Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy. Ultrasound Obstet Gynecol. 1997; 10:419-21.
  • Lockwood CJ, Scioscia AL, Hobbins JC. Congenital absence of the umbilical cord resulting from maldevelopment of embryonic body folding. Am J Obstet Gynecol. 1986; 155:1049-51.
  • Smrcek JM, Germer U, Krokowski M et al. Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies. Ultrasound Obstet Gynecol. 2003;21:322-8.
  • Solerte L. Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus: clinical evidence for counseling. J Matern Fetal Neonatal Med. 2006; 19:109-12.
  • Chan Y, Silverman N, Jackson L et al. Maternal uniparental disomy of chromosome 16 and body stalk anomaly. Am J Med Genet. 2000; 94:284-6.
  • Hirokawa S, Uotani H, Futatani T et al. A case of body stalk anomaly arising in the second baby of a triplet pregnancy after in-vitro fertilization and embryo transfer.Pediatr Surg Int. 2003; 19:223-5.
  • Kurosawa K, Imaizumi K, Masuno M et al. Epidemiology of limb-body wall complex in Japan. Am J Med Genet. 1994; 51:143-6.
  • Kanamori Y, Hashizume K, Sugiyama M et al. Long-term survival of a baby with body stalk anomaly: report of a case. Surg Today. 2007;37:30-3. Correspondence to:
  • Yrd.Doç.Dr.Ilgın TÜRKÇÜOĞLU
  • İnönü University School of Medicine
  • Department of Obstetrics and Gynecology, Malatya, Turkey. Fax : 422 341 0728
  • Tel : 422 341 0660-4705
  • E-Posta : dr.ilgin@yahoo.com
There are 21 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Yaprak Engin Üstün This is me

Yusuf Üstün This is me

İlgın Türkçüoğlu This is me

Ayşe Kafkaslı This is me

Zercan Kalı This is me

Publication Date August 1, 2007
Published in Issue Year 2007 Volume: 14 Issue: 4

Cite

APA Üstün, Y. E., Üstün, Y., Türkçüoğlu, İ., Kafkaslı, A., et al. (2007). Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi. Journal of Turgut Ozal Medical Center, 14(4), 257-259.
AMA Üstün YE, Üstün Y, Türkçüoğlu İ, Kafkaslı A, Kalı Z. Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi. J Turgut Ozal Med Cent. August 2007;14(4):257-259.
Chicago Üstün, Yaprak Engin, Yusuf Üstün, İlgın Türkçüoğlu, Ayşe Kafkaslı, and Zercan Kalı. “Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi”. Journal of Turgut Ozal Medical Center 14, no. 4 (August 2007): 257-59.
EndNote Üstün YE, Üstün Y, Türkçüoğlu İ, Kafkaslı A, Kalı Z (August 1, 2007) Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi. Journal of Turgut Ozal Medical Center 14 4 257–259.
IEEE Y. E. Üstün, Y. Üstün, İ. Türkçüoğlu, A. Kafkaslı, and Z. Kalı, “Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi”, J Turgut Ozal Med Cent, vol. 14, no. 4, pp. 257–259, 2007.
ISNAD Üstün, Yaprak Engin et al. “Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi”. Journal of Turgut Ozal Medical Center 14/4 (August 2007), 257-259.
JAMA Üstün YE, Üstün Y, Türkçüoğlu İ, Kafkaslı A, Kalı Z. Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi. J Turgut Ozal Med Cent. 2007;14:257–259.
MLA Üstün, Yaprak Engin et al. “Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi”. Journal of Turgut Ozal Medical Center, vol. 14, no. 4, 2007, pp. 257-9.
Vancouver Üstün YE, Üstün Y, Türkçüoğlu İ, Kafkaslı A, Kalı Z. Body Stalk Anomalinin Prenatal Tanısı: Vaka Takdimi. J Turgut Ozal Med Cent. 2007;14(4):257-9.