[Neonatal screening for hemoglobinopathies in the Brussels region]. / Dépistage néonatal des hémoglobinopathies dans la région bruxelloise.

We realised this study in order to determine the frequency of abnormal haemoglobins and to appreciate the need for a neonatal screening for haemoglobinopathies in Brussels. Over a two year-period, 9575 cord blood samples were systematically screened. The study disclosed following results : 40% of newborns were from regions at risk for haemoglobinopathies and abnormal haemoglobins were present in 2.5% of the neonates tested. This frequency is similar to those reported elsewhere in North Europe. The most frequent abnormal haemoglobins were the Hb S, Bart's, C, D and E. Three cases of severe forms of sickle cell anaemia were identified. The frequency of abnormal haemoglobins and Hb S traits combined to the high rate of mixed marriages (16%) justifies the need for a universal screening for haemoglobinopathies in Brussels.

[Clinical experience with a novel surgical technique: laparoscopy-assisted vaginal hysterectomy]. / Expérience clinique d'une technique chirurgicale nouvelle: l'hystérectomie vaginale assistée par laparoscopie (LAVH).

A new surgical technique, the laparoscopically assisted vaginal hysterectomy (LAVH) is evaluated through the clinical course of a group of patients operated for hysterectomy in the years 1993-1995. Although the groups of patients being operated for LAVH, vaginal or abdominal hysterectomy have not been randomized, we conclude that the laparoscopic assistance allows the vaginal approach of hysterectomies that should have been otherwise operated by laparotomy. Medical and financial advantages of this technique are discussed.

[Respective diagnostic importance of hysterography and hysteroscopy in common uterine pathology]. / Apports diagnostiques respectifs de l'hystérographie et de l'hystéroscopie en pathologie utérine courante.

In order to evaluate the diagnostic effectiveness of hysteroscopy and hysterography in common uterine diseases. 175 cases of hysterectomy were reviewed. The preoperative diagnosis obtained by these two examination methods was compared with the pathologist's report. Statistical analysis showed a 97.3% sensitivity for hysterography (specificity 28.5%). The sensitivity of hysteroscopy was 89% and its specificity 50%. The results varied according to the pathology observed. The best results for myomas were obtained with hysterography, and those for localized disorders (hyperplasia, polyps, etc.) with hysteroscopy.

[Current program of in-vitro fertilization at the Erasmus Hospital: initial results and original ethical aspects]. / Nouveau programme de fécondation in vitro à l'hôpital Erasme: premiers résultats et aspects éthiques originaux.

The clinical results including all in vitro fertilization (IVF) cycles with oocyte pick-up in 1990 are presented. Different types of treatment including classical IVF and embryo transfer, laparoscopic replacement of zygotes in the fallopian tube (ZIFT), IVF with donor sperm (IVF-D), cross fertilization test, embryo freezing, oocyte donation and IVF with epididymal sperm were performed. The total pregnancy rate obtained reaches 38% per oocyte pick-up, 30% of clinical pregnancies (including 4 pregnancies obtained with frozen and thawed embryos). The anticipated "Take Home Baby Rate" will be around 25% per oocyte pick-up, 26 of these 40 pregnancies being today over 20 weeks of gestation. Particular ethical aspects of the program are presented: a study on couple's attitudes regarding embryo freezing as well as the final destination of possibly remaining supernumerary embryos will stress the importance of a precise clear decision on that matter before entering IVF treatment. Indeed the couple's idea on embryo destiny were very precise but also very different. The oocyte donation program has the originality of preserving the donor's anonymity by exchanging the donors recruited by the patients. It will be stressed that this kind of approach combines higher pregnancy chances for the patients, respect of ethical principles linked to gamete donation and gives satisfaction to the patients. The global normalized pregnancy cumulative curve shows that 60% of the couples entering IVF treatment will obtain a child within the first three pick-up cycles.

Prenatal screening for gestational diabetes throughout office hours.

A group of 1666 consecutive pregnant women attending our prenatal clinic was screened for gestational diabetes (GD). Patients with risk factors (155) underwent a classical 50 g OGTT, while 1511 patients without risk factors for GD were submitted at random throughout the day to a simplified OGTT, consisting of a single blood glucose determination 1 h after the glucose ingestion. In these patients, plasma glucose 1 h after the glucose load averaged 104 +/- 1 mg/dl and exceeded 135 mg/dl in 315 patients. In the latter group, retested with a standard 50 g OGTT, 48 out of 1511 patients (3.2%) finally met the criteria for GD, while 25 patients had an abnormal OGTT in the group with risk factors. The blood glucose levels after simplified 50 g glucose load were significantly higher in the third (vs. first) trimester of pregnancy (113 +/- 1 vs. 96 +/- 1 mg/dl, p less than 0.001). A significant increase in mean glucose concentrations was also observed for those patients tested after 11 a.m. (107 +/- 1 mg/dl vs. 99 +/- 1 mg/dl prior to 11 a.m. p less than 0.001) and for the women with an ideal body weight (IBW) greater than or equal to 150% at the beginning of pregnancy (124 +/- 7 mg/dl vs. 104 +/- 1 mg/dl for less than 150% IBW, p less than 0.001). These variations in glucose tolerance, related to the time of the day, the gestational age and the body weight, are of limited amplitude and should not be considered in the determination of the cut-off point of the screening test. Glucose loading at random throughout the day is a simple and useful tool for the routine detection of unsuspected GD in pregnant patients attending prenatal clinics.

Changes in pancreatic B cell function during late pregnancy, early lactation and postlactation.

Oral glucose tolerance tests were performed in 10 normal women during late pregnancy (36 +/- 1 weeks of gestation), early lactation (5 days after delivery) and postlactation (1 week after weaning). A marked decrease in basal plasma insulin and C peptide concentrations, as well as in the B cell secretory response to hyperglycemia, was observed at the 5th day of postpartum, compared to the high values recorded in late pregnancy. Except for a higher basal C peptide level and a lower plasma prolactin concentration, there was no major difference between early lactation and postlactation. At the 5th day after delivery, the insulin response to hyperglycemia was lower in lactating than in nonlactating women (14 subjects in each group). It is concluded that, in normal women, pancreatic B cell function undergoes a rapid normalization during the postpartum, at least when the latter coincides with the onset of lactation.

Effects of chronic renal failure and hemodialysis on hormonal evaluation of pregnancy.

Different hormonal parameters are studied in a pregnant woman with chronic renal failure undergoing hemodialysis. Serum concentrations of human chorionic gonadotropin, progesterone, 17-hydroxyprogesterone, alpha-fetoprotein, human placental lactogen were all higher than the normal range. This is probably related to a decreased metabolic clearance rate of these hormones. Dehydroepiandrosterone sulfate (DHEAS), which is low before pregnancy and during the first week of gestation, tends to increase later. Serum estradiol is lower than the normal range. This decrease probably results from the low concentration of DHEAS available to placental aromatization. Finally, pregnancy-specific beta 1-glycoprotein concentration follows the normal range and may be considered as the most reliable parameters to evaluate the fetoplacental well-being in these high-risk pregnancies.

Luteal function in ectopic pregnancy.

Human chorionic gonadotropin, estradiol, progesterone, and 17-hydroxyprogesterone have been measured in the serum of 46 patients with ectopic pregnancy. All these hormones were significantly lower than in normal pregnancy. Unruptured ectopic pregnancy differed from the ruptured state by a lower serum human chorionic gonadotropin concentration, a slower human chorionic gonadotropin increment, a higher incidence of metrorrhagia, and an earlier diagnosis. The concentration of estradiol, progesterone, and 17-hydroxyprogesterone in the serum of patients with ectopic pregnancy was lower than could be expected from the decrease of human chorionic gonadotropin, often lower than in a normal luteal phase. It is suggested that, as long as ultrasonography fails to show an intrauterine pregnancy, the simultaneous determination of serum human chorionic gonadotropin and progesterone could aid in the early diagnosis of ectopic pregnancy and in the improvement of subsequent fertility; to that regard any progesterone level below 15 ng/ml in the presence of detectable amounts of human chorionic gonadotropin is highly suggestive of either a threatened abortion or an ectopic pregnancy, whatever the gestational age.

Chorionic biopsy in management of severe Kell alloimmunization.

Determination of fetal red blood cell Kell antigen is possible on fetal red blood cells obtained at 10 weeks of gestation by chorionic biopsy and may contribute to the management of severe Kell-hemolytic disease.

Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion.

Complete absence of human somatomammotropin (hCS) was demonstrated in two patients experiencing an otherwise uneventful pregnancy. After delivery, DNA was prepared from the neonate blood or from the placenta and the integrity of the hCS-hGH gene cluster was investigated by Southern blotting and hybridization with an hCS cDNA probe. Patient 1 was found to be homozygous for a deletion involving hCS-A, hGH-V, and hCS-B. Patient 2 was a double heterozygote, with one chromosome bearing the same deletion as that of patient 1, while in the other, only the hCS-A gene was missing. Considerations relative to the frequency of the defect are derived from the present results.

Ultrasonic evaluation of fetal limb growth: part II.

The length of the ulna, radius, tibia, and fibula was measured in 220 normal fetuses. Computerized curve fitting provided normal values of bone length for age and biparietal diameter. Ratios of the length of the different bones are presented. Possible applications of these measurements include: in utero diagnosis of fetal dwarfism, limb malformations, microcephaly, determination of gestational age, archeological dating of fetuses, and forensic applications.

Renal clearance of estriol and its conjugates in normal and abnormal pregnancies.

Renal clearance of estriol (E3), E3-3-sulfate (E3S), E3-16-glucuronide (E316G), E3-3-glucuronide (E33G), and E3-3-sulfate-16-glucuronide (E3SG) has been measured in 13 normal and 17 abnormal pregnancies between the 33rd and 40th weeks of gestation. The methodology involved a chromatographic separation on a celite column in the presence of tritiated tracers, enzymic hydrolysis of the conjugates, and measurement of the E3 moiety by a specific RIA. Preeclampsia (eight patients) was characterized by a significant decrease of renal clearance for all conjugates except E33G. In contrast to that pattern, a patient with cholestatic icterus had normal clearances except for E33G, which was reduced to less than 15% of its normal mean value. Administration of ampicillin to a pregnant woman induced an important decrease of all E3 clearances, especially for E33G which decreased to nearly 1% of its initial value; normal clearances were resumed within a week after the end of the treatment. In a small number of complicated pregnancies, E3 clearances were normal. A significant correlation between the renal clearance of E316G and that of urea and creatinine has been demonstrated.

Serum unconjugated estriol after intravenous cortisol administration in late pregnancy.

Serum unconjugated estriol levels were measured in 44 pregnant women treated with corticoids for the prevention of respiratory distress syndrome (RDS) in premature infants. Intravenous administration of cortisol (1 g every 6 hours for 24 hours) decreased the level of circulating unconjugated estriol to 40% of the initial value after 6 hours and to 27% after 24 hours. During the 2 succeeding days, all the results remain below the pretreatment values. On the third day, the mean value is no longer different from the control value, but in some patients recovery takes more than 3 days.

Steroid metabolism in vitro by gonadal tissue from a true hermaphrodite.

The case of a true hermaphrodite, with a normal ovary and an ovotestis is presented. The ovotestis was removed and incubated in vitro with tritiated steroids (testosterone, dehydroepiandrosterone, pregnenolone and 17 alpha-hydroxyprogesterone). Labeled metabolites were isolated and identified. Based upon these findings, a pathway of steroid biogenesis in this abnormal gonadal tissue is suggested. The ovotestis studied did not contain all the enzymes involved in ovarian steroidogenesis: 3 beta-hydroxysteroid dehydrogenase, isomerase, 17--20 desmolase and 17 beta-hydroxysteroid dehydrogenase were present, but other important enzymes, such as 16 and 17-hydroxylases, and aromatizing enzyme systems, were deficient or absent.