Organic acids in physiological fluids other than urine and blood

Abstract

Transabdominal amniocentesis during early pregnancy is increasingly used for the prenatal diagnosis of genetic disorders and it is now possible to detect foetuses affected with some of the organic acidurias in utero by determination of enzyme activities of cultured amniotic cells or by direct chemical analysis of the amniotic fluid supernatant (Section 9.3). Few data, particularly quantitative, are available on the organic acid composition of amniotic fluid from normal, uncomplicated pregnancies, particularly in the gestational age range of 14–18 weeks, when amniocentesis is generally performed. Reliable prenatal diagnosis of organic acidurias by direct chemical analysis of the amniotic fluid is dependent on reliable quantitative data on the constituents of the fluid during normal pregnancy.