Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review

Abstract

This paper presents a fetus with mosaic trisomy 9 diagnosed by chorionic villus sampling and confirmed by cordocentesis, and compares this case with published cases in order better to define the ultrasound markers confined to trisomy 9 syndrome. Detailed fetal ultrasound examination was carried out, revealing shortened femur, placental cysts and oligohydramnios. All published trisomy 9 cases with abnormal ultrasound findings were extracted from the MEDLINE database in the period from 1973 to 2002. We found 12 non-mosaic and 13 mosaic cases, including our case. The most frequent ultrasound abnormalities included characteristic cardiac, skeletal, craniofacial and central nervous system malformations. Intrauterine growth restriction and single umbilical artery were prevalent non-specific findings in both non-mosaic and mosaic groups. Parental chromosomal variations, as in our case, were not uncommon findings. When a fetus shows structural anomalies suggesting the presence of trisomy 9, karyotyping should be performed on both chorionic villi or amniocytes and fetal blood lymphocytes to enable a correct diagnosis to be made.