Prenatal diagnosis of severe glutaric acidemia type II due to a novel homozygous ETFDH frameshift variant: Case report and literature review

Glutaric acidemia type II (GA2) is a rare autosomal recessive fatty acid oxidation disorder that can present prenatally with bilateral hyperechoic cystic kidneys. We report a 23-year-old gravida 2 woman who was referred at 18+2 weeks for suspected fetal renal anomalies, with a history of consanguinity and a prior unexplained neonatal death. Quantitative fluorescent polymerase chain reaction and microarray were normal; whole-exome sequencing identified a novel homozygous ETFDH frameshift variant (c.1200_1203del; p.His401GlnfsTer3). The parents were heterozygous, and the variant was classified as likely pathogenic. The family terminated the pregnancy after counseling. This case highlights both GA2 in the differential diagnosis of fetal renal anomalies and the value of prenatal exome sequencing for diagnosis and counseling.