P07.05: Prenatal diagnosis of trisomy 18 fetus with diastematomyelia

Abstract

We present a case of prenatal diagnosis of trisomy 18 in fetus with diastematomyelia. This a case of a diastematomyelia diagnosed at 16 weeks 3 days of gestation. The patient was a 27-year-old G2P1 who conceived naturally. First ultrasound scan was done at 16 weeks 3 days of gestation. 11–14 weeks screening scan and biochemical test for PAPP-F and beta-HCG was missed. During the ultrasound examination, we discovered an additional bony structures arising from the vertebrae at the level of T10-T11. There was some widening of the spinal canal as well. There was no sign of spina bifida. Another findings were bilateral choroid plexus cysts and talipes of left foot and the fetal karyotype was performed as the last two findings were markers of aneuploidy. Fetal karyotype revealed trisomy 18. Pregnancy was terminated. Postmortem study was not performed as the gestational age at time of termination was less than 22 weeks. Supporting information can be found in the online version of this abstract 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.