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Gestational age-related reference values for amniotic fluid organic acids.

C Ottolenghi¹, N Abermil, A Lescoat

¹Metabolic Biochemistry Unit, Hôpital Necker-Enfants Malades, Paris, France. chris.ottolenghi@nck.aphp.fr

Prenatal Diagnosis

|December 2, 2009

Summary

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This study establishes normal reference values for amniotic fluid organic acids, aiding in the prenatal diagnosis of metabolic disorders like organic acidemias. These findings help differentiate affected fetuses from unaffected ones.

Area of Science:

Biochemistry
Metabolomics
Prenatal Diagnostics

Background:

Normative data for amniotic fluid (AF) organic acid levels across gestational ages are currently unavailable.
Such data are crucial for accurately assessing prenatal diagnostic methods for organic acidemias.

Purpose of the Study:

To establish normative reference values for 21 organic acids in amniotic fluid.
To provide a framework for improving the accuracy of prenatal diagnosis of organic acidemias.

Main Methods:

Collected amniotic fluid samples from 92 pregnancies between 12-34 weeks gestation.
Utilized gas chromatography/mass spectrometry to quantify 21 organic acids.
Included pregnancies without risk for organic acidurias to establish normal ranges.

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Main Results:

Established reference values for 21 organic acids in amniotic fluid across gestational ages.
Compared normal values with those from 134 pregnancies at risk for specific metabolic conditions.
Demonstrated that most metabolites showed minimal variation in normal fetuses.

Conclusions:

Normal reference values for amniotic fluid organic acids were established.
These values facilitate clear differentiation between affected and unaffected fetuses for several organic acidemias.
Recommends combining organic acid analysis with mutational analysis and other biochemical methods for comprehensive prenatal diagnosis.