Czasopismo
Tytuł artykułu
Autorzy
Warianty tytułu
Języki publikacji
Abstrakty
Omphalocele is the most common congenital defect of the abdominal wall and in a large percentage of cases it is associated with chromosomal anomalies. In this case report during the regular ultrasound examination at 11 weeks of gestation, omphalocela, whose scope was 90% of fetal abdomen, was diagnosed. Karyotype analysis showed the presence of chromosomal aberrations 47 XX + 18 (Edwards syndrome). After the presentation of the severity of congenital anomalies and characteristic of the Edwards syndrome patient decided to terminate the pregnancy.
Słowa kluczowe
Czasopismo
Rocznik
Tom
Numer
Strony
431-433
Opis fizyczny
Daty
wydano
2013-08-01
online
2013-06-12
Twórcy
autor
- Department of Gynecology and Obstretic, Clinical Center Kragujevac, 30 Zmaj Jovina Str., 34000, Kragujevac, Serbia, protrka.zoran@gmail.com
autor
- Department of Gynecology and Obstretic, Clinical Center Kragujevac, 30 Zmaj Jovina Str., 34000, Kragujevac, Serbia
autor
- Department of Gynecology and Obstretic, Clinical Center Kragujevac, 30 Zmaj Jovina Str., 34000, Kragujevac, Serbia
autor
- Department of Gynecology and Obstretic, Clinical Center Kragujevac, 30 Zmaj Jovina Str., 34000, Kragujevac, Serbia
autor
- Department of Gynecology and Obstretic, Clinical Center Kragujevac, 30 Zmaj Jovina Str., 34000, Kragujevac, Serbia
autor
- Department of Gynecology and Obstretic, Clinical Center Kragujevac, 30 Zmaj Jovina Str., 34000, Kragujevac, Serbia
autor
- Department of Pathology, Clinical Center Kragujevac, 30 Zmaj Jovina Str., 34000, Kragujevac, Serbia
Bibliografia
- [1] Stoll C., Alembik Y., Dott B., Roth M.P., Risk factors in congenital abdominal wall defect (omphalocele and gastroschisis): a study in a series of 265,858 consecutive births, Ann. Genet., 2001, 44, 201–208 http://dx.doi.org/10.1016/S0003-3995(01)01094-2[Crossref]
- [2] Weir E., Congenital abdominal wall defects, CMAJ., 2003, 169, 809–810
- [3] Sípek A., Gregor V., Horácek J., Masátová D., Abdominal wall defects from 1961 to 2000-incidence, prenatal diagnosis and prevalence by maternal age, Ceska Gynekol., 2002, 67, 255–260 (in Czech)
- [4] Hsu C.C., Lin S.P., Chen C.H., Chi C.S., Lee H.C., Hung H.Y., et al., Omphalocele and gastroschisis in Taiwan, Eur. J. Pediatr., 2002, 161, 552–555 http://dx.doi.org/10.1007/s00431-002-1031-8[Crossref]
- [5] Tan K., Kilby M.D., Whittle M.J., Beattie R.B., Booth I.W., Botting B.J., Congenital anterior abdominal wall defects in England and Wales 1987-1993:retrospective analysis of OPCS data, BMJ, 1996, 313, 903–906 http://dx.doi.org/10.1136/bmj.313.7062.903[Crossref]
- [6] Nicolaides K.H., Snijders R.J., Cheng H.H., Gosden C., Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities, Fetal. Diagn. Ther., 1992, 7, 102–115 http://dx.doi.org/10.1159/000263657[Crossref]
- [7] Smigiel R., Jakubiak A., Lombardi M.P., Jaworski W., Slezak R., Patkowski D., et al., Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature, Am. J. Med. Genet. A., 2011, 155, 1102–1105 http://dx.doi.org/10.1002/ajmg.a.33895[WoS][Crossref]
- [8] Cohen M.M. Jr., Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives, Pediatr. Dev. Pathol., 2005, 8, 287–304 http://dx.doi.org/10.1007/s10024-005-1154-9[Crossref]
- [9] Markov D., Pavlova E., Atanassova D., Markov P., Ivanov S., First trimester prenatal diagnosis of structural fetal anomalies with three dimensional ultrasound-possibilities and limitations, Akush. Ginekol. (Sofiia), 2010, 49, 4–10 (in Bulgarian) [PubMed]
- [10] Chen C.P., Prenatal sonographic features of fetuses in trisomy 13 pregnancies (III), Taiwan J. Obstet. Gynecol., 2009, 48, 342–349 http://dx.doi.org/10.1016/S1028-4559(09)60322-3[Crossref]
- [11] Sepulveda W., Wong A.E., Dezerega V., First-trimester sonographic findings in trisomy 18: a review of 53 cases, Prenat. Diagn., 2010, 30, 256–259
- [12] Getachew M.M., Goldstien R.B., Edge V., Correlation between omphalocele contents and karyotypic abnormalities: Sonographic study in 37 cases, AJR, 1992, 158, 133–136 http://dx.doi.org/10.2214/ajr.158.1.1727339[Crossref]
- [13] De Veciana M., Major C.A., Porto M., Prediction of an abnormal karyotipe in fetusis with omphalocele, Prenat. Diag., 1994, 14, 487–492 http://dx.doi.org/10.1002/pd.1970140613[Crossref]
- [14] Kleinrouweler C.E., Kuijper C.F., van Zalen-Sprock M.M., Mathijssen I.B., Bilardo C.M., Pajkrt E., Characteristics and outcome and the omphalocele circumference/abdominal circumference ratio in prenatally diagnosed fetal omphalocele, Fetal. Diagn. Ther., 2011, 30, 60–69 http://dx.doi.org/10.1159/000323326[WoS][Crossref]
- [15] Pheterson G., Avortement pharmacologique ou chirurgical: les critères sociaux du ‘choix’, Cahiers du Genre., 2001, 31, 221–247 (In French) http://dx.doi.org/10.3917/cdge.031.0221[Crossref]
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.-psjd-doi-10_2478_s11536-012-0134-5