Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency.

No reports are available about the course of pregnancies in women with tetrahydrobiopterin (BH(4)) deficiencies or the effects of treatment with BH(4), L-dopa/carbidopa and 5-hydroxytryptophan (5-OHTrp) on fetal development. We present for the first time the case of a mother with late-diagnosed mild form of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, the course of her two subsequent pregnancies and clinical evaluation with follow-up of two offspring. In both pregnancies neurotransmitter precursors, as well as BH(4) dosages were increased proportionally to the mother's weight gain. To prevent maternal phenylketonuria (MPKU) syndrome, special attention was paid to increasing BH(4) dosages. Both pregnancies were complicated by threatened premature labour, by the mother's nicotinism and additionally, in the first pregnancy, by gestational diabetes mellitus and vaginitis. The first child was born in the 31st week of pregnancy with the symptoms of moderate intrauterine growth retardation (IUGR) and brain malformation in the form of right sided closed-lip schizencephaly with absence of septum pellucidum. Although the girl demonstrates mild left-sided hemiparesis, her psychological development at the age of 8 years is above average. The second child was born in the 37th week of pregnancy without brain anomalies and at the age of 5 years his psychomotor development is appropriate for the age. As the cause of brain malformations resulting in physical impairment in the first child is unknown, more data are essential to verify conclusions about the influence of the mother's BH(4) deficiency and the safety of her treatment for fetal development.

[Abnormalities in neonatal brain ultrasound examination in relation to cord blood TNF and chorioamnionitis]. / Nieprawidlowosci obrazu ultrasonograficznego mózgowia u noworodków a stezenie TNF we krwi pepowinowej i zmiany zapalne blon plodowych.

The study was undertaken to determine whether PIVH and PVL in neonates are related to cord blood TNF levels and chorioamnionitis. The study material consisted of 54 neonates--31 preterm and 23 full-term. 39 of those babies were born to mothers with clinical signs of intrauterine infection, but only in 20 cases histologic chorioamnionitis were recognised. In the whole study newborns brain ultrasound examination was taken during the first 3 days of life. Abnormal head ultrasound (PIVH--17 cases or PVL--6 cases) was diagnosed in 23 babies. That was found that brain damage, recognised during neonatal period, was mainly connected with prematurity and signs of maternal infections but not with cord blood TNF levels. We conclude that prolongation of pregnancy as well as early recognition and proper treatment of intrauterine infection can prevent PIVH and PVL in neonates.

[Antiphospholipid antibodies in high-risk pregnancy]. / Przeciwciala antyfosfolipidowe w ciazy wysokiego ryzyka.

UNLABELLED: Recently the connection of antiphospholipid antibodies (aPLs) presence with pregnancy loss and complications in pregnancy has been observed APLs related obstetric complications include: miscarriages after 10 weeks, IUGR, intrauterine foetal death, preeclampsia and severe preeclampsia. Our objective was to determine the aPLs prevalence in patients with recurrent pregnancy loss and/or complicated pregnancy. We examined 154 pregnant women aged 19-42 (average of 29.1) with recurrent pregnancy loss, current pregnancy complicated by preeclampsia and severe preeclampsia and/or IUGR, thrombotic episodes, thrombocytopenia or autoimmune disease. In all the patients anticardiolipin antibodies (aCL) were determined at least twice using ELISA and their coagulation system was tested including lupus anticoagulant (LA) test. In justified cases immunological examinations detecting connective tissue systemic diseases were conducted. Increased aCL titre was detected in 54 (34.4%) women. Statistically significant risk of increased aCL titre was observed in patients with autoimmunological diseases (RR = 4.3). Increased, but Statistically insignificant, risk of high aCL titre was observed in patients with venous thrombosis (RR = 2.45) as well as in patients with thrombocytopenia (RR = 2.45). LA prevailed significantly more often in patients with venous thrombosis episodes (RR = 6.33) and with autoimmunological diseases (RR = 17.4). Preterm deliveries were significantly more frequent in pregnant women with increased aCL titre and/or LA. Moreover, in this group foetal death and preterm stillbirth more often occurred. The above mentioned risks increased when aCL and LA coexisted. No relation between increased aPLs and miscarriage frequency was observed. CONCLUSIONS: 1) Increased aPLs titre prevail in multiparas with bad obstetrical anamnesis and with pathological course in present pregnancy, 2) increased aPLs titre prevail in patients with autoimmunological diseases, 3) increased aPLs titre are connected with pregnancy pathology manifested by frequent preterm deliveries and intrauterine foetal deaths.