Prenatal Diagnosis of Oculocutaneous Albinism by Electron Microscopy of Fetal Skin

Oculocutaneous albinism was diagnosed prenatally by electron microscopic examination of fetal skin samples taken during fetoscopy at 20 weeks of gestation. Melanosome development in hair bulb melanocytes progressed no further than stage II, indicating a lack of melanin synthesis. In 4 age-matched control fetuses, numerous stage IV melanosomes, signifying active melanin synthesis, were identified. The diagnosis was confirmed after the pregnancy was terminated at 22 weeks. Examination of the fetal eye showed absence of pigment in the retinal epithelium and uvea at a stage when ocular melanogenesis would normally be active. This study shows that oculocutaneous albinism can be detected in the second trimester using similar techniques to those employed in the prenatal diagnosis of epidermolysis bullosa and ichthyosis

Increased inositol phosphoglycan P-type in the second trimester in pregnant women with type 2 and gestational diabetes mellitus

A progressive insulin resistant state develops throughout human pregnancy. Inositol phosphoglycan P-type (P-IPG), a second messenger of insulin, was reported to negatively correlate with the degree of insulin resistance in non-pregnant diabetic subjects. Urinary levels of P-IPG were assessed in insulin resistant states during pregnancy such as gestational diabetes mellitus (GDM, n=44) and type 2 diabetes mellitus (type 2 DM, n=25) and in 69 normal pregnant women. Urinary levels of P-IPG were higher in GDM than controls with a positive trend of release throughout normal pregnancy (P<0.01). P-IPG excretion was higher in diabetic (GDM and type 2 DM) than in healthy women in the second trimester (P<0.05). A higher P-IPG urinary excretion occurs during the second trimester in pregnant women with clinically evident insulin resistance with a positive association with poor glycemic control.Peer Reviewe

Invasive techniques for prenatal diagnosis and therapy

Peer Reviewe

Free amino acid distribution inside the first trimester human gestational sac

The trophoblast functions of nutrient transport and protein synthesis generate high concentrations of amino acids in the placenta and in fetal blood during the second half of pregnancy, but little is known about these metabolic processes in embryonic and early fetal periods. The aim of this study is to compare the distribution of amino acids inside the first trimester gestational sac. Free amino acid concentrations were measured in homogenates of placental villi, in samples of coelomic and amniotic fluid, and in the maternal serum from 17 normal pregnancies between 7 and 11 weeks of gestation. Significant positive relationships between maternal serum and placental tissue were found for 10 amino acids, indicating that active amino acid transport and accumulation by the human syncytiotrophoblast occurs as early as 7 weeks of gestation. The transplacental flux of most amino acid transport from maternal blood to the exocoelomic cavity was against a concentration gradient. The highest placental amino acid concentrations were found for taurine, glutamic acid, glycine and alanine. The amniotic fluid contained lower mean concentration of all amino acids than coelomic fluid and maternal serum. The concentration distribution of individual amino acids in coelomic and amniotic fluid were related indicating a passive transfer through the amniotic membrane. A coelomic-maternal gradient was observed in 19 out of 24 amino acids measured and positive correlations were found between maternal serum and coelomic fluid for concentrations of α-aminobutyric acid, tyrosine and histidine, suggesting that these amino acids are only partially retained and/or transferred more rapidly by the early placenta.SCOPUS: ar.jinfo:eu-repo/semantics/publishe