Prevalence of HFE mutations in people from North Africa living in southern France.

The two main mutations of the HFE (haemochromatosis) gene, C282Y and H63D, were found previously to be rare or absent among Africans. Dried blood samples of 1276 newborns from southern France were analysed for both HFE mutations, and the origins of the four grandparents of each newborn were recorded. The allele frequency of C282Y and H63D was 3.0% +/- 0.7% and 16.9% +/- 1.5% respectively. In a subgroup of 171 newborns with four North African ancestries (mainly from Morocco and Algeria) the allele frequency was 0.9%+2.5%-0.2% for the C282Y and 13.2% +/- 3.6% for H63D. HFE mutations are not absent in individuals with North African origins living in southern Europe. This finding has implications for the diagnosis and screening of hereditary haemochromatosis in these populations.

Amniocentesis before 15 weeks' gestation: technical aspects and obstetric risks.

In a prospective case-control study, early amniocenteses (EAC, n = 242) at between 12 and 14 weeks gestation, were compared with standard amniocenteses (SAC, n = 242) performed at between 15 and 24 weeks gestation. The medical records of these 484 cases were reviewed for indications, success rate, color and volume of amniotic fluid, gestational age, number of needle insertions, location of the placenta, culture failure rate, obstetric complications and therapeutic abortion rate. There were no significant differences between the two groups in success rate, in culture success rate or in the outcome of the pregnancies. The volume of the sample taken was smaller in the EAC patients (P < 0.001), and therapeutic abortions were performed significantly earlier (P < 0.02.) Results show that EAC is feasible from 11 weeks' gestation, and can be performed for the usual indications as an alternative to chorionic villus sampling. In the near future, cytogenetic techniques will enable results to be obtained in less than a week.

Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)

In a large family with Reifenstein syndrome, we previously performed molecular analysis of the androgen receptor gene. Direct sequencing showed a G-A point mutation at position 2818 of exon 7, which was responsible for an arginine-histidine substitution at position 840 of the androgen receptor. In this family, the proband's mother became pregnant and wished to know whether she was carrying an unaffected fetus. Polymerase chain reactions of the sex-determining region of the Y chromosome (the SRY gene) on trophoblastic DNA at week 14 revealed a 46,XY genotype. Sequencing analysis showed the canonical sequence (CGT, encoding an Arg residue), suggesting that the fetus was not affected. The expectation of normal male sexual development was confirmed by detection of normal male external genitalia through ultrasonography at week 24. These data confirm that sequence analysis of the androgen receptor gene on trophoblastic DNA is the most reliable method for prenatally diagnosing or excluding androgen insensitivity syndrome in high-risk families.

Fetal diagnosis of toxoplasmosis in 190 women infected during pregnancy.

One hundred and ninety women who contracted toxoplasmosis after the seventh week of pregnancy underwent antenatal diagnosis, including ultrasound examination and biological tests. Tests included Toxoplasma isolation in fetal blood and amniotic fluid by mouse inoculation, specific IgM and IgA in fetal blood, and non-specific tests. Twenty fetuses had positive specific as well as non-specific tests for Toxoplasma infection. At birth, four of these presented with clinical congenital toxoplasmosis and 12 with subclinical forms. Antenatal diagnosis enabled the detection of 83 per cent of the infected fetuses. Under specific conditions, cordocentesis permits early diagnosis and considerably reduces the number of terminations of pregnancy.

Late vaginal induced abortion after a previous cesarean birth: potential for uterine rupture.

This descriptive study was conducted to evaluate the risk of uterine rupture in cases of late vaginal induced abortions among women with previous cesarean sections. 23 women were referred at a mean gestational age of 23.9 (SD 6.9) weeks of gestation after one or two cesarean sections. Indications for terminating the pregnancy were maternal diseases in 4 cases and fetal anomalies in 19 cases. RU 486 and/or prostaglandins were used for cervical ripening and to induce labor. Vaginal birth was obtained in 20 cases (86.9%) with an average duration of 72 (SD 52) h. Cesarean section was performed in the remaining 3 women because no cervical dilation could be obtained. One uterine rupture occurred and was treated with conservation of the uterus. Late termination of pregnancy in such cases can be achieved without cesarean section with a high success rate.

Prenatal diagnosis of diastematomyelia.

Fetal diastematomyelia, a malformation due to a longitudinal split of the cord, was diagnosed during the third trimester. Diagnosis was based on the visualization of a sagittal bony spur in the thoracolumbar spinal canal, associated with enlargement of the canal, hemivertebrae and spina bifida without a meningocele.

Cordocentesis versus amniocentesis for rapid fetal karyotyping in cases of late referral of women.

Eighteen women were referred for fetal karyotyping because of advanced maternal age (over 38 years) later than 23 weeks' gestation. In order to obtain more rapid karyotypes, cordocentesis rather than amniocentesis was performed. All procedures were successful, leading to the obtention of normal karyotypes in all cases. No fetal incidents occurred and results were obtained more rapidly than by amniocentesis. We suggest the use of cordocentesis rather than amniocentesis in cases of late referral of women.

Therapeutic strategies in tubal infertility with distal pathology.

Since 1980, various treatments have been proposed for patients suffering from distal tubal infertility. Difficult choices between surgical (microsurgery/laparoscopy) treatments and in-vitro fertilization (IVF) still confront many workers. In this study, we evaluated the cumulative results of both therapeutic methods for this group of patients. From 1979 to 1990, 266 patients with distal tubal infertility were operated in our programme (group M: microsurgery, n = 211; group L: laparoscopy, n = 55). In group M, pathological findings were hydrosalpinges (n = 135) and incomplete distal tubal occlusion, (n = 76) and in group L hydrosalpinges (n = 31) and incomplete distal tubal occlusion (n = 24). After differing time intervals, IVF was proposed for these patients when no pregnancy occurred. The results were as follows: in group M, 35.5% intra-uterine pregnancy (IUP) and 6.6% ectopic pregnancy (EP) after fimbrioplasties versus 28.1% IUP and 11.9% EP after salpingostomy; in group L, 16.6% IUP and 4.2% EP after fimbrioplasty versus 12.9% IUP and 6.5% EP after salpingostomy. Following IVF, 55.7% of patients in group M and 14.5% in group L became pregnant. The cumulative results including both treatment techniques (surgery and IVF) show an average of 70% and 65% pregnancy rates in groups M and L respectively. The best results after surgery and throughout IVF were obtained during the first year. It is concluded that a short delay after surgery, averaging 6 months to 1 year, before involving patients in IVF, is very important.

[The use of LHRH analogs in ovulation induction]. / L'utilisation des analogues de la LH-RH en induction de l'ovulation.

The use of LH-RH agonists is appropriate for the stimulation of ovulation. In contrast, in the case of induction of ovulation in a patient with deficient ovulation, suppression of influences of the hypothalamo-pituitary axis does not modify the pathological condition responsible for the ovulatory anomaly.

[Hormone therapy in the 40-year-old woman]. / L'hormonothérapie chez la femme de 40 ans.

Hormone replacement therapy is frequently prescribed in 40-year old women because of the hormonal changes which start to occur at this age. A progestogen-only treatment is often prescribed to restore the oestrogen/progestogen balance. This treatment alone can be sufficient on the therapeutic level as well as on the contraceptive level. However, in order to minimize the risks of such a treatment, a non-androgenic derivative must be chosen. There are no contra-indications for oral contraceptives in women who are over 40 years old on condition that the risk factors are not cumulated. Here also, it is advisable to use the lowest possible dose of steroids which has an adequate contraceptive action and enables a good cycle control. As for oestrogens, the minimum ethinyloestradiol dose must be sought. For the progesterone dose, a non-androgenic derivative should be chosen. The GnRH agonists may have some indications, but their exact place is yet to be defined.

Long-term institutional care or home care? What is the best solution for the Canton of Vaud?

A study has been carried out in the Canton of Vaud (Switzerland) with the economic objectives of evaluating the efficiency of long-term care at home and of defining the necessary conditions as well as the groups of population for which this efficiency would be optimal. This paper gives a summary of the basic optimisation model which has been developed and the principal results gathered during the study. These results confirm the economic advantages of home care in comparison with long-term stay in nursing homes, but they deviate from one of the principal hypotheses of the model.