IMR Press / CEOG / Volume 47 / Issue 4 / DOI: 10.31083/j.ceog.2020.04.5323
Open Access Case Report
Methylmalonic acidemia in prenatal diagnosis
B.F. Zhou1,†C.X. Duan2,†D.L. Tang3,*,†
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1 Department of Obstetrics, Maternal and Child Health Hospital of Shiyan, Shiyan, Hubei, P.R. China
2 Department of Otolaryngology Head and Neck Surgery, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, P.R. China
3 Department of Clinical Laboratory, Renmin Hospital of Wuhan University, Wuhan, Hubei, P.R. China

Contributed equally.

Clin. Exp. Obstet. Gynecol. 2020, 47(4), 617–619; https://doi.org/10.31083/j.ceog.2020.04.5323
Submitted: 9 July 2019 | Accepted: 16 October 2019 | Published: 15 August 2020
Abstract

Objective: The objective of this study was to report the prenatal diagnosis for methylmalonic acidemia. Materials and Methods: Isolated methylmalonic acidemia was diagnosed by analyzing organic acids in the blood and urine. The specific subtype of methylmalonic acidemia was determined by molecular genetic testing. Prenatal diagnosis for methylmalonic acidemia includes ultrasound examination, conventional karyotyping using cultured amniocytes, chromosomal microarray analysis, and targeted sequencing using uncultured amniocytes. Results: We identified a novel mutation (NM_172250.2; c.491G>A) in the MMAA gene that might be associated with methylmalonic acidemia. The fetus and her father are both carriers of this mutation. Conclusion: A combination of prenatal ultrasound, conventional karyotyping, chromosomal microarray analysis, and target sequencing will provide a more accurate risk assessment for methylmalonic acidemia.

Keywords
Isolated methylmalonic academia
Prenatal diagnosis
Chromosomal microarray analysis
Inherited metabolic disorder
Targeted sequencing
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