Investigation of amino acid profile alterations in maternal serum for early diagnosis of anembryonic pregnancy with high performance liquid chromatography-mass spectrometry.

BACKGROUND: Anembryonic pregnancy affects 12-15 % of clinically recognized pregnancies and a previous anembryonic pregnancy is an independent risk factor for future anembryonic pregnancy. This study aimed to investigate alternations in maternal amino acid profiles and analyze the diagnostic accuracy of amino acid biomarkers for anembryonic pregnancy in the early stage.

METHODS: Fasting serum from anembryonic pregnancy patients (n = 103) and healthy pregnancies (n = 97) was collected, and amino acid concentrations were determined by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). A receiver operating characteristic (ROC) curve was used to evaluate the diagnostic performance of each of the amino acid biomarkers and the amino acid profile index for anembryonic pregnancy screening.

RESULTS: The concentrations of 15 amino acids were significantly different between anembryonic pregnancy patients and healthy controls, and most of them were significantly higher at 7 weeks' gestational age in anembryonic pregnancy subjects. The area under the curve (AUC) based on an amino acid profile index combined with alanine, citrulline, aspartic acid, threonine, serine and isoleucine was 0.90 (sensitivity 82.76 %, specificity 83.64 %) for distinguishing early anembryonic pregnancy from healthy controls.

CONCLUSION: Maternal serum amino acid concentrations were significantly elevated in anembryonic pregnancy patients. The diagnostic potential of amino aicds for anembryonic pregnancy was verified, and the diagnostic efficiency was improved in the use of the amino acid profile index. The amino acid profile is expected to be applied for the risk screening of early-stage of anembryonic pregnancy in the future.