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Biomedical subjects

A Pachi

Publications and source records attributed to A Pachi.

23 records · Page 2Linked to original sources
PubMedDate not supplied

First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency.

First trimester prenatal diagnosis was offered to the mother of a child affected by severe haemolytic anaemia due to glucose phosphate isomerase (GPI) deficiency. The mutant enzyme was characterized by an increased thermal lability. Both parents had 50 per cent normal red cell GPI activity. We have shown that the homozygous and heterozygous genotypes can be clearly distinguished from each other and controls by combinations of the measurement of enzyme activity and enzyme thermal lability. Examination of trophoblast cells obtained at 9 weeks of gestation led to the diagnosis of a GPI heterozygous fetus. The result was confirmed by analysis on uncultured and cultured amniotic fluid cells sampled at 16 weeks and by red blood cell studies of the healthy newborn. Prenatal diagnosis of GPI deficiency is indicated in families with previous cases resulting in severe haemolysis and mainly with the conservative view of arranging appropriate therapeutic measures for affected fetuses.

Adult↗
PubMedDate not supplied

Decrease of thyroid antibodies during pregnancy.

The behavior of serum anti-thyroglobulin (Abs-Tg) and antimicrosomal antibodies (Abs-Mc) was examined during and after normal pregnancies. The antibodies titer decreases as pregnancy progresses; they cross the placenta and are present in the fetal serum. Infants' thyroid function is not affected by this transplacentar transfer. The Abs-Tg titer increases again after delivery.

Adult↗
PubMedDate not supplied

Carrier detection and prenatal diagnosis in haemophilia A and B.

Sixty probable carriers of haemophilia from 25 families were studied by using coagulation phenotype and DNA analysis: 33 with haemophilia A and 27 with haemophilia B. Coagulation phenotype was based on factor VIII/IX assay and DNA analysis on the examination of restriction fragment length polymorphisms (RFLPs) within and closely linked to factor VIII or IX: 3 RFLP for factor VIII and 3 for factor IX. The comparison between the coagulation phenotype and RFLP analysis showed the misclassification of 15 females (6 for haemophilia A and 9 for haemophilia B). Four prenatal haemophilia A diagnosis were made by DNA analysis of chorionic villi, taken with a transcervical trophoblastic biopsy, between the 18th and the 11th week.

Chorionic Villi Sampling↗