A Novel Method for the Prenatal Diagnosis of Cleft Palate Based on Amniotic Fluid Metabolites

Background and purpose The prenatal diagnosis of cleft palate is an important component of sequential therapy, but the relevant diagnostic methods are still limited. We aimed here, to explore the possibility of an early prenatal diagnosis of cleft palate by assessing metabolites in pregnant mice. Methods Twenty-four inseminated females were randomly divided into retinoic acid (RA)-treated (treated with retinoic acid at 10.5 gestation days) and control groups. The metabolites of the embryonic palatal tissue, maternal amniotic fluid, and serum were characterized using 9.4T magnetic resonance spectroscopy in vitro. Then, a predictive model was established through the principal component analysis (PCA), and the correlations between the metabolites of amniotic fluid and palatal tissue were explored using orthogonal-2 partial least squares (O2- PLS). Results The incidences of cleft palate were 100% and 0% in the RA-treated and control groups, respectively. A predictive PCA model with a high specificity and sensitivity was established for the early prenatal diagnosis of isolated cleft palate using amniotic fluid metabolic data. Between RA-treated and control mice, we found that two metabolites in the amniotic fluid and palatal tissue were correlated. Creatinine showed the same trend in the palatal tissue and amniotic fluid, while choline showed opposite trends in the two tissues. However, the data for serum metabolites could not be used to establish a prediction model. Conclusion This study indicates that assessing the metabolites of amniotic fluid is a potential approach for the prenatal diagnosis of isolated cleft palate.