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​Cihat Şen, ​Nicola Volpe

Daniel Rolnik, Mar Gil, Murat Yayla, Oluş Api

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Resul Arısoy

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Prenatal exencephaly diagnosis at first trimester: a case report. Perinatal Journal 2014;22(3):SE50 DOI: 10.2399/prn.14.S001084

Author(s) Information

Süreyya Demir1,
Bülent Demir1,
Lale Vuslat Bakır1,
Gülser Bingöl1,
Sahra Çavuşoğlu1,
Mehmet Nafi Sakar2,
Deniz Balsak2

  1. T.C. Sağlık Bakanlığı Haseki Eğitim ve Araştırma Hastanesi Kadın Hastalıkları ve Doğum Kliniği- İstanbul TR
  2. Diyarbakır Kadın-Doğum ve Çocuk Hastalıkları Hastanesi- Diyarbakır TR

Süreyya Demir, T.C. Sağlık Bakanlığı Haseki Eğitim ve Araştırma Hastanesi Kadın Hastalıkları ve Doğum Kliniği- İstanbul TR,

Publication History
Conflicts of Interest

No conflicts declared.

Neural tube defects are the second most frequent congenital anomalies after cardiac anomalies. Its prevalence has been reported as 3/1000 in a study carried out in Turkey. Since ultrasonography is a common practice, the diagnosis can be established mostly at first trimester.
The case was 38 years old and G7, P6, A0 and Y6, and her first trimester fetal US revealed live single pregnancy compatible with CRL 14 weeks. Exencephaly diagnosis was established when it was observed that cranium’s integrity was lost and brain tissue had an irregular appearance on the region where fetal head developed. No other anomaly was detected in the fetus. There were no characteristics in her medical history or drug use (she did not use folic acid). She had nothing in her family history. The parent was informed in detail about the anomaly. The parent decided termination. The pregnancy was terminated at a tertiary center.
Although anencephaly is defined as the deficiency or absence of the development of brain tissue, it starts as exencephaly (defective development of cranium, Mickey Mouse appearance) or acrania (absence of cranium) and brain tissue contacts directly with amniotic fluid as the week of gestation increases. Cranial bones ossify as of 10 weeks of gestation and they can be seen in the ultrasonography beginning from 11 weeks of gestation. Since anencephaly has fatal outcomes, diagnosing in the fetal ultrasonography examination at first trimester allows parents to have termination option and helps to decrease possible trauma on parents.

First trimester, Exencephaly, Prenatal Diagnosis.