Prenatal diagnosis of thalassemia major in Greece: evaluation of the first large series of attempts.
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Publications and source records attributed to A Antsaklis.
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The objective of this study was to determine whether vacuum extraction is associated with umbilical cord blood acid-base changes when used electively or in the presence of suspected fetal distress. Data from 1,428 patients from a previously published randomized trial of intrapartum electronic fetal heart rate monitoring versus intermittent auscultation were analyzed to identify differences in umbilical cord blood acid-base measurements associated with the elective use of vacuum extraction (patients with duration of second stage of labor 60 min or less) and also in the presence of suspected fetal distress during the second stage of labor. When used electively, vacuum extraction was associated with lower pH (in both umbilical cord artery and vein), lower venous base excess, and higher venous carbon dioxide tension (PCO2), as compared to normal spontaneous vaginal delivery. After correcting for duration of second stage of labor, elective vacuum delivery was significantly associated only with a decrease in cord venous pH and increase in venous PCO2. However, these cord blood acid-base changes were not accompanied by any differences in perinatal morbidity and mortality or in the number of neonates born with acidemia (cord arterial pH < 7.15 or < 7.10). In cases of suspected fetal distress, the use of vacuum extraction was not associated with any detectable cord blood acid-base changes as compared to normal spontaneous vaginal delivery. These data support the continued use of vacuum extraction, especially in cases of suspected fetal distress during the second stage of labor.
The fetal karyotype was determined in 42 out of 45 cases from fetal blood obtained by fetoscopy for prenatal diagnosis of beta-thalassemia. The procedure described is quick and reliable and it is recommended for women over 35 years of age undergoing prenatal diagnosis for haemoglobinopathies.
Selective feticide is the procedure of choice when, in twin binovular pregnancy, only one of the fetuses is shown to be affected. As the probabilities for this condition are almost 1:2 when the genetic disease is due to homozygosity for two autosomal recessive genes, the problem is expected to occur frequently among the ever increasing number of couples seeking prenatal diagnosis of thalassaemia and the haemoglobinopathies. The present report is the first case of this condition and the ninth in the overall medical literature.
This paper describes a case of severe idiopathic thrombocytopenia in a primigravida. The disorder became symptomatic at 22 weeks gestation with a platelet count of 20,000/microliter. The existence of chronic idiopathic thrombocytopenia under remission was strongly suspected, but could not be documented. The patient was treated with oral corticosteroids over a period of 7 weeks. During this period, she also had three cycles of high-dose intravenous globulin. This treatment produced a transient improvement, but the platelet count fell to 4,000/ microl by the 29th gestational week. Caesarean section was carried out for maternal indication a week later, following a fourth intensified course of gamma-globulin, coupled with platelet transfusions and low-dose vinblastine. Splenectomy was not performed. Potentially life-threatening thrombocytopenia persisted for 6 weeks post partum. Despite the presence of circulating antiplatelet globulin in the maternal blood and the antenatal use of vinblastine, the infant was entirely unaffected and thrived.
OBJECTIVE: To investigate the mononuclear cell apoptosis rate during pregnancy. MATERIALS AND METHODS: Apoptosis was quantitated by EtBr staining in whole peripheral blood samples of 135 women in different gestational weeks and 85 nonpregnant women used as controls. Apoptosis was also qualitated by TUNEL assay. RESULTS: The apoptosis rate increased during pregnancy according to gestational age. In chromosomally abnormal fetuses apoptosis was 2.5-fold higher than that found in pregnancies with normal embryos matched for gestational age. FISH in TUNEL-positive cells using X, Y and 21 chromosome probes verified the fetal origin of part of the apoptotic population. CONCLUSION: Apoptosis is stimulated in maternal peripheral blood during pregnancy, possibly accounting partly for the presence of free fetal DNA in maternal serum. The increased apoptosis rate in pregnancies with chromosomally abnormal fetuses may have additional clinical importance.
AIM: To investigate the use of anti-hemoglobin-epsilon antibody in order to identify fetal cells in the maternal circulation during pregnancy. MATERIALS AND METHODS: 48 blood samples were obtained from pregnant women, 26 in the 1st trimester and 22 in the 2nd trimester. Magnetic activated cell sorting was used for fetal cell enrichment followed by immunophenotyping with a monoclonal antibody against hemoglobin-epsilon. FISH with X, Y and 21 chromosome-specific probes was performed in 29 cases. RESULTS: The mean number of epsilon-positive cells was 9.2 (range 2-23) in the 1st trimester, 4.8 (range 3-13) in the 2nd trimester and 22 (range 15-28) in pregnancies with Down syndrome. No significant difference was noted in the number of epsilon-positive nucleated red blood cells (NRBCs) isolated from carriers and noncarriers of beta-thalassemia. FISH analysis was successful in 24 cases. In 4 cases with known male fetuses, an average of 4.7 epsilon-positive cells showed a Y signal. In 4 cases with Down syndrome, all epsilon-positive cells showed 3 signals for chromosome 21. CONCLUSION: Anti-hemoglobin-epsilon antibody has increased specificity for fetal NRBCs and should be preferentially used to improve noninvasive prenatal diagnosis of chromosome abnormalities from fetal cells in maternal blood.
We report a rare case of acute severe thrombocytopenia and leukopenia, which first presented at 37 weeks' gestation. Based on clinical as well as on laboratory findings the diagnosis of systemic lupus erythematosus was made. The patient was successfully managed with an emergency transfusion of 6 units of platelets and intravenous immunoglobulin infusion followed by methylprednisolone administration. A caesarean section was performed at 39 weeks. The neonate was not thrombocytopenic at birth, nor at the age of 1 month.
One triplet and two twin pregnancies, with a delayed delivery of 70, 98 and 85 days, respectively, are presented. In all cases one neonate survived. Regarding both the literature and our own cases, we can make the following management suggestions: (a) the cord should be ligated as high as possible; (b) fetal growth, cervical length and dilatation should be observed by weekly ultrasound scans, and (c) it seems that both cervical cerclage and tocolysis prolong the delivery interval, while prophylactic antibiotics have no beneficial effect. Triplet pregnancy in a single uterus and with a 70-day interval between the delivery of the first and that of the remaining 2 fetuses is a rare occurrence. Moreover the delay of 98 days, in our second case, represents the fourth longest delivery interval reported in the literature.
This study was undertaken to test the effects of erythromycin as an adjunct to tocolysis for preterm labor in women with vaginal cultures positive for Ureaplasma urealyticum. The study group consisted of 18 women in active preterm labor with pregnancies between 26 and 34 weeks of gestation and intact membranes who received 500 mg erythromycin orally every 8 h for 10 days. Seventeen women with similar characteristics served as controls and received no antibiotics. In all women contractions were suppressed with ritodrine. Erythromycin treatment resulted in a statistically significant greater mean delay of delivery (36.4 days) than among the control group (23.1 days). Higher proportion of term pregnancies (7 versus 3 pregnancies), higher mean birth weight (2,745 versus 2,474 g), lower neonatal morbidity (22.2 versus 42.2%) and shorter mean neonatal hospitalization time (9.6 versus 12.1 days) were observed, although these differences were not statistically significant. Adjunctive erythromycin treatment given to women treated for preterm labor with intact membranes and positive vaginal cultures for U. urealyticum appears to prolong gestation and to improve perinatal outcome.
The use of intra-amniotic administration of Prostaglandin (PG) F2 alpha in the management of intrauterine fetal death and missed abortion is evaluated in a series of 30 patients. The patients were from 17 to 38 years of age with a median of 25 years. Parity ranged from 0 to three, and duration of gestation ranged from 16 to 37 weeks, with a median of 24 weeks. A single intra-amniotic dose of 40 mg PGF2 alpha was used under direct ultrasound vision. Induction was achieved in all cases. There were 28 complete, and two incomplete terminations. The mean treatment to completion interval for all patients was 5.3 hours. Side effects were minimal: we believe that PGF2 alpha can be safely administered intra-amniotically even with a dead fetus in the uterus and that it can lead to abortion with a minimum of discomfort and danger to the mother.
The administration of 15-me-PGF 2a for the therapeutic termination of pregnancy and management of intrauterine death of the embryo during the second and third trimester of pregnancy was studied in 92 patients. Of these, 52 came because of intrauterine death with an average gestational age of 28.7 weeks while the rest came for therapeutic termination of pregnancy with an average gestational age of 21 weeks. Successful abortion was achieved in 90 patients. The mean abortion induction time was 7.3 hours for patients with intrauterine death and 12.6 hours for the patients who came for therapeutic termination. The results and complications of the intramuscular administration of the 15-me-PFG2a are analysed in the present work.
Fetal cells entering the maternal circulation during pregnancy constitute a potential source for safe and reliable non invasive prenatal diagnosis. However, selecting the appropriate fetal cell type and methods of enrichment are areas of paramount importance. Most investigators consider fetal nucleated red blood cells (NRBCs) to be the cell type of choice, since they are mononuclear, abundant in fetal blood, relatively well differentiated and have a limited life span. Twenty ml of peripheral blood samples were collected from 40 pregnant women in the 16th to 18th week of pregnancy. To enrich for NRBCs, found within an excess of maternal cells, negative magnetic cell sorting (MACS) was used. Leukocytes were depleted from maternal blood by treatment with anti CD45 monoclonal antibody, as this surface antigen is not expressed in NRBCs. NRBCs were detected in 35 of the 40 maternal samples with May Grunwald-Giemsa staining. In 30 cases UCH gamma positive cells were identified after immunophenotyping with a monoclonal antibody directed against the gamma chain of fetal hemoglobin. The mean number of isolated NRBCs was 6 (range 1-15). In 5 cases we were able to successfully perform FISH on the immunophenotyped cells and determine correctly the fetal gender using X and Y chromosome specific probes.