Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AA WD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects. These 22 AAWDs consisted in 13 cases of omphalocele (including four cases of Beckwith-Wiedemann syndrome), four of gastroschisis, one of pentalogy of Cantrell, three of vesical exstrophy and one of cloacal exstrophy. Prenatal ultrasonography provided the diagnosis of 14 of these defects with a changing sensitivity with the gestational age varying from 17% in the first trimester to 71.4% and 77.8% in the second and third trimesters, respectively. The relevance of this examination was improved when performed by an imaging specialist. The prenatal diagnosis of these defects indicated an amniocentesis in eight cases, allowing the diagnosis of two cases of trisomy 18. It also motivated a therapeutic termination of the pregnancy (TTP) in ten cases. Prenatal ultrasonography allowed better prenatal follow-up and planning of the delivery of the continued pregnancies. It indicated an emergency C-section in only one case by showing intestinal complications of gastroschisis. Four NNs died (two cases of omphalocele and two of gastroschisis), three of which postoperatively and the prenatal diagnosis did not improve survival. Prenatal ultrasonographic diagnosis provided a precise morphological study determining the type of the AAWD, a complete malformation assessment, and the prognosis factors. This resulted in adequate multidisciplinary pre and postnatal care, including a rigorous ultrasound follow-up, a TTP in case of associated defects, and emergency delivery once the complications of poor diagnosis are detected. (C) 2017 Elsevier Masson SAS. All rights reserved.
机构:
Thomayer Univ Hosp, Dept Med Genet, Prague 4, Czech Republic
Pronatal Sanat, Dept Med Genet, Prague, Czech Republic
Gennet, Ctr Med Genet & Reprod Med, Dept Med Genet, Prague, Czech RepublicThomayer Univ Hosp, Dept Med Genet, Prague 4, Czech Republic
Sipek, Antonin, Sr.
Gregor, Vladimir
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机构:
Thomayer Univ Hosp, Dept Med Genet, Prague 4, Czech Republic
Pronatal Sanat, Dept Med Genet, Prague, Czech RepublicThomayer Univ Hosp, Dept Med Genet, Prague 4, Czech Republic
Gregor, Vladimir
Sipek, Antonin, Jr.
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Thomayer Univ Hosp, Dept Med Genet, Prague 4, Czech Republic
Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic
Charles Univ Prague, Fac Med 3, Inst Med Genet, Prague, Czech RepublicThomayer Univ Hosp, Dept Med Genet, Prague 4, Czech Republic