TY - JOUR T1 - Fetal hemivertebra: a rare form of 18q deletion prenatal presentation JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2022-251914 VL - 16 IS - 2 SP - e251914 AU - Mafalda Laranjo AU - Márcia Marinho AU - Conceição Brito AU - Cristina Godinho Y1 - 2023/02/01 UR - http://casereports.bmj.com/content/16/2/e251914.abstract N2 - The 18q deletion is a rare condition with several described features. A common phenotype includes short stature, microcephaly, facial defects, small feet, intellectual disability and hypotonia.We present a rare case of a fetus with del18q22.1q23 whose diagnosis was obtained by amniocentesis after a routine ultrasound at 20 weeks, where a hemivertebra was detected.Congenital hemivertebra is infrequent and is rarely associated with chromosomal anomalies. Expectant management can be advocated in isolated hemivertebra. This report shows that a hemivertebra can be an isolated prenatal finding in del18 so it is important to screen for, and exclude, chromosomal anomalies. ER -