Normal Mid-Gestation Fetal Ultrasonography Cannot Reliably Exclude Severe Perinatal Hypophosphatasia.

Introduction: Hypophosphatasia is a systemic bone disease characterized by inhibition of bone mineralization due to mutations in the ALPL gene that results in a deficiency of tissue nonspecific alkaline phosphatase. The perinatal form is the most severe. In the past, this form was lethal, although human recombinant enzyme replacement therapy has now been developed and licensed, which improves survival.

Renal angiomyolipoma and lymphangioleiomyomatosis in pregnancy.

This is a literature review for management of angiomyolipoma (AML), lymphangioleiomyomatosis (LAM) and tuberous sclerosis (TS) during pregnancy, prompted by a case of a 23-year-old woman who presented with generalised itching at 31 weeks' gestation and was found to have a large vascular retroperitoneal mass in the lower pole of the left kidney. Magnetic resonance imaging (MRI) was suggestive of angiomyolipoma with multiple large aneurysms and haemorrhage within the tumour. She was delivered at 38 weeks by elective caesarean section, to avoid the risk of rupture and bleeding from the aneurysms during labour.

Amino acid transport systems beta and A in fetal T lymphocytes in intrauterine growth restriction and with tumor necrosis factor-alpha treatment.

Intrauterine growth restriction (IUGR) is associated with reduced activity of placental amino acid transport systems beta and A. Whether this phenotype is maintained in fetal cells outside the placenta is unknown. In IUGR, cord blood tumor necrosis factor (TNF)-alpha concentrations are raised, potentially influencing amino acid transport in fetal cells.

Taurine transporter in fetal T lymphocytes and platelets: differential expression and functional activity.

Transplacental transfer of taurine, a beta-amino acid essential for fetal and neonatal development, constitutes the primary source of taurine for the fetus. Placental transport of taurine is compromised in pregnancies complicated by intrauterine growth restriction, resulting in a reduced concentration of taurine in cord plasma. This could impact on fetal cellular metabolism as taurine represents the most abundant intracellular amino acid in many fetal cell types.