Sonographic Detection of an Unknown Chromosomal Disorder in Utero

Abstract

Obstetric sonography has a long-standing reputation assisting in the detection of chromosomal abnormalities in utero. Additional diagnostic testing can be performed to confirm a genetic anomaly, including noninvasive prenatal testing, nuchal translucency, and amniocentesis. Comprehensively studied chromosomal abnormalities include trisomies 21, 13, and 18 and monosomy X. Although chromosomal abnormalities cannot be treated, they can be managed and monitored by serial sonograms and genetic counseling prior to delivery, allowing for preparation for a special needs child. This case study presents a fetus with multiple anomalies, including a rare presentation of cystic hygroma. In this specific case, the patient refused a genetic amniocentesis, leaving the cause(s) of the multiple anomalies unknown.