ABSTRACT. Utilizing an easy and safe ~rocedure for fetal MATERIALS AND METHODSblood sampling in utero we have studied 409 fetuses for prenatal diagnosis of rubella, toxoplasmosis, hemophilia, and hemoglobinopathies. Retrospectively we selected 163 fetuses confirmed as normal at birth and tested between 18 and 30 wk of gestation to establish normal hematological parameters and to follow the evolution of erythropoiesis, differential counts, hemoglobin synthesis, and hemostasis. Total white blood cell and platelet counts did not change during this period. Our knowledge of fetal hematology is limited due to the fact that most earlier studies were performed on aborted fetuses or under sampling conditions which may have altered hematological values. Moreover, only a few hematological values during gestation have been published (1). Having developed an easy and safe technique for fetal blood sampling, we selected retrospectively for this study 163 fetuses born healthy at full term delivery to establish reference fetal hematological values using standardized methods. To date no fetal loss or premature labor has been attributed to these fetal samplings.Sampling procedure. The fetal sampling method has been described in detail previously (2, 3). A real time ultrasound scanner (ATL MARK 111) was used to locate the umbilical cord insertion on the placenta and to determine the best route of access to it without fetal interposition. The transducer was then maintained immobile while, under aseptic conditions, local anesthesia was performed with 1 % xylocaine into the anterior abdominal wall at the chosen puncture site. No /3-mimetic drugs or other medication were used prior to the procedure. A 20-gauge spinal needle (10 or 13 cm long), filled with 0.129 M sodium citrate solution and fixed to a 2 ml disposable syringe containing 0.1 ml of this solution, was introduced into the plane of the ultrasound sector near the transducer. The needle tip emitted a clearly visible echo and its progress toward the insertion of the cord was followed on the scope. The vein of the cord was punctured about 1 cm from its insertion.Immediately after the first d r o~ of blood was obtained, the syringe was replaced by a new one containing no additive. The blood sample was immediately transferred into special tubes containing adequate anticoagulant for biological studies. The duration of the entire procedure was less than 10 min in 90% of the cases, and the automated evaluations of hematological parameters were completed within 30 min.Patients. We studied 409 pregnancies and 435 fetal blood samplings were camed out (26 repetitive samplings) with the approval of the ethics committee of the hospital, the medical expert panel, and the informed consent of the patients. The fetal samplings were conducted for the prenatal diagnosis of toxoplasmosis (285 cases), rubella (37 cases), or hemophilia (30 cases), for rapid fetal karyotyping (32 cases), or for diagnosis of other miscellaneous conditions (25 cases). Medical abortions of affected fetuses were perfor...

This study’s objective was to assess, on a national scale, residual risks of death, major disease-related events, and quality of care during the first five years in children diagnosed at birth with sickle cell disease (SCD). Data were retrospectively collected from medical files of all children with SCD born between 2006–2010 in France. Out of 1792 eligible subjects, 1620 patients (71.8% SS or S/beta°-thalassemia -SB°-) had available follow-up data, across 69 centers. Overall probability of survival by five years was 98.9%, with 12/18 deaths related to SCD. Probability of overt stroke by five years in SS/SB° patients was 1.1%, while transcranial Doppler (TCD) was performed in 81% before three years of age. A total of 26 patients had meningitis/septicemia (pneumococcal in eight cases). Prophylactic penicillin was started at a median age of 2.2 months and 87% of children had received appropriate conjugate pneumococcal vaccination at one year. By five years, the probability of survival without SCD-related events was 10.7% for SS/SB° patients. In contrast, hydroxyurea was prescribed in 13.7% and bone marrow transplant performed in nine patients only. In this study, residual risks of severe complications were low, probably resulting from a good national TCD, vaccination, and healthcare system coverage. Nonetheless, burden of disease remained high, stressing the need for disease-modifying or curative therapy.

A new case of Hb Providence was discovered in a French caucasian family presenting a mild polycythemia. Structural and functional studies of the two abnormal fractions (Hb Providence Asn and Asp) have been performed. These confirm the abnormal characteristics of Hb Providence described previously. Red cells containing Hb Providence were fractionated with a Percoll Albumin density gradient. The respective amounts of the two components were determined in the youngest and oldest cells. We observed a slight increase of Hb Providence Asp from 34 to 37% during the life span of the erythrocytes which confirms that the deamidation of Hb Providence Asn to Hb Providence Asp is a fast process, already present and close to its maximum, in the reticulocytes. Both abnormal components are stable in the presence of isopropanol.