A case of spina bifida with myeloschisis diagnosed during the first trimester

A spina bifida is a malformation that occurs when the caudal neural tube fails to fuse. We present a case of spina bifida diagnosed on first trimester. A 35-years-old primigravida presented at our hospital due to fetal megacystis on routine ultrasonography on 12 weeks of gestation at local medical centre. The 2.07x1.29x1.40 cm3 sized, anechoic intraabdominal cyst without keyhole sign suggested bladder outlet obstruction syndrome. Chorionic villi sampling results showed normal chromosomes with microarray. Since the fetus was female, the possibility of urethral atresia was raised. Observation of the fetal brain on ultrasound showed decreased intracranial translucency with crash sign, which refers to thalamus displacement to the lowermost position. The size of cerebral aqueduct was diminished considering the gestational age. View of the fetal spine showed a widening of lumbar vertebra in many segments. The overall signs on the first trimester ultrasound indicated spina bifida with myeloschisis. The patient went through abortion at 13 weeks of gestation at local medical centre and the abortus confirmed the diagnosis of spina bifida. Spina bifida is often diagnosed during the second trimester. However, intracranial markers, including intracranial translucency, can be used during the first trimester for screening spina bifida. Thus, the importance of first trimester screening cannot be more emphasised. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.