A Rare Case of Hemoglobin Barts Hydrops Fetalis due to Uniparental Disomy of Chromosome 16

Abstract

Hemoglobin (Hb) Barts hydrops fetalis is the most severe form of alpha-thalassemia and is usually inherited in an autosomal recessive manner. We report a case of Hb Barts hydrops fetalis due to uniparental disomy of chromosome 16. Antenatal screening showed a low maternal mean corpuscular volume (MCV), while paternal MCV was normal. The fetus was found to have a thickened nuchal translucency during first trimester screening for Downs syndrome. Mid-trimester fetal anomaly ultrasound scan showed fetal cardiomegaly with pericardial effusion, scalp edema, ascites and an elevated middle cerebral arterial peak systolic velocity (MCA PSV). Multiplex polymerase chain reaction (PCR) on DNA from amniocentesis showed that the fetus was homozygous for South East Asian (SEA) type 2 alpha-globin gene deletion. Chromosome microarray (CMA) showed two regions of absence of heterozygosity (AOH) on the terminal p and q arm of chromosome 16. The rare occurrence of Hb Barts hydrops fetalis caused by maternal uniparental disomy should be considered in cases of fetal hydrops even in cases where paternal MCV is normal.

J Med Cases. 2021;12(7):275-279
doi: https://doi.org/10.14740/jmc3693