Abstract
BackgroundTrisomy 21 is a common aneuploid condition in humans and accounts for approximately one quarter of all aneuploid live births. To date, early diagnosis of Trisomy 21 remains a challenging task. Metabolomics may prove an innovative tool to study the early pathophysiology of Trisomy 21 at a functional level.MethodsUltra‐performance liquid chromatography coupled with mass spectrometer (UPLC‐MS) was used for untargeted metabolomic analysis of amniotic fluid samples from women having normal and trisomy 21 fetuses.ResultsMany significantly changed metabolites were identified between amniotic fluid samples from Trisomy 21 pregnancies and normal euploid pregnancies, such as generally lower levels of several steroid hormones and their derivatives, higher levels of glutathione catabolites coupled with lower levels of gamma‐glutamyl amino acids, and increased levels of phospholipid catabolites, sugars, and dicarboxylic acids. The identification of a human milk oligosaccharide in amniotic fluid may worth further investigation, since confirmation of this observation may have significant implications for regulation of fetal development.ConclusionsThe metabolisms in amniotic fluid from Trisomy 21 and normal pregnancies are quite different, and some of the significantly changed metabolites may be considered as candidates of early diagnostic biomarkers for Trisomy 21.
Highlights
IntroductionTrisomy 21 (T21), known as Down Syndrome, is a common aneu‐ ploid condition in humans and accounts for approximately one quar‐ ter (approximately 0.13%) of all aneuploid live births.[1,2] The medical condition of T21 can lead to varying degrees of physical and mental malformations that are characterized by low intelligence, stunted physical development, and distinctive facial features.[3,4] Serological triple screening (including AFP, beta–HCG, and estriol) combined with amniocentesis has become one of the main methods for pre‐ natal diagnosis of chromosome diseases such as Trisomy 21.5,6 Early diagnosis of T21 pregnancies can give both the expecting parents and doctors the benefit of early awareness and preparation for deal‐ ing with the difficult situation.Amniotic fluid (AF) is the biological fluid in the amniotic sac sur‐ rounding a fetus in the mother's womb
Using a highly quality‐controlled metabolomics platform consisting of four specific ultra‐perfor‐ mance liquid chromatography (UPLC)‐mass spec‐ trometry (MS)/MS methods targeting differ‐ ent groups of metabolites, we identified 621 metabolites in amniotic fluid samples, and 151 of the 621 metabolites are discovered to be significantly different between the Trisomy 21 (T21) and normal pregnancy amni‐ otic fluids
The current metabolomics study identifies the largest number of metabolites in amniotic fluids, and many of them are significantly changed in the Trisomy 21 amniotic fluids
Summary
Trisomy 21 (T21), known as Down Syndrome, is a common aneu‐ ploid condition in humans and accounts for approximately one quar‐ ter (approximately 0.13%) of all aneuploid live births.[1,2] The medical condition of T21 can lead to varying degrees of physical and mental malformations that are characterized by low intelligence, stunted physical development, and distinctive facial features.[3,4] Serological triple screening (including AFP, beta–HCG, and estriol) combined with amniocentesis has become one of the main methods for pre‐ natal diagnosis of chromosome diseases such as Trisomy 21.5,6 Early diagnosis of T21 pregnancies can give both the expecting parents and doctors the benefit of early awareness and preparation for deal‐ ing with the difficult situation.Amniotic fluid (AF) is the biological fluid in the amniotic sac sur‐ rounding a fetus in the mother's womb. | 2 of 10 membranes.[7] Amniotic fluid has very low levels of proteins and en‐ zymes in early pregnancy (
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