First-trimester diagnosis of hypophosphatasia. Importance of gestational age and purity of CV samples.
Prenatal diagnosis of hypophosphatasia was made by alkaline phosphatase (ALP) assay on a chorionic villous sample taken in the first trimester. Very low activities of the LBK isoenzymes indicated an affected fetus. Diagnosis was confirmed at 12 weeks of gestation by measurement of LBK isoenzyme activities in fetal bone tissue. In control chorionic villous samples an inverse relation was observed between LBK and placental ALP percentage during gestational age. High LBK ALP activities are observed in decidual tissue. Chorionic villous tissue must not be sampled after 12 weeks of gestation and decidual tissue must be excluded from the sample.
Muller
F
F
Biochimie, Hopital Ambroise Paré, Boulogne, France.
Oury
J F
JF
Bussière
P
P
Lewin
F
F
Boué
J
J
D000469:Alkaline Phosphatase / Q000032:analysis; D001842:Bone and Bones / Q000201:enzymology; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D005260:Female; D005865:Gestational Age; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis*; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D010920:Placenta / Q000201:enzymology; D011247:Pregnancy; D011261:Pregnancy Trimester, First
D000469:Alkaline Phosphatase