Progesterone levels on the human chorionic gonadotropin trigger day affect the pregnancy rates for embryos transferred at different stages of development in both general and selected IVF/ICSI populations.

BACKGROUND: Two meta-analyses have shown that pregnancy and birth rates are significantly higher after blastocyst transfer than after cleaved embryo transfer. Other studies have revealed that a serum progesterone level > 1.5 ng/ml on the trigger day is responsible for premature luteinization and is associated with a low pregnancy rate. The objectives of this retrospective study were to determine whether blastocyst transfer gave higher pregnancy rates than cleaved embryo transfer at day 3 in both the general and selected IVF/ICSI populations, and whether the serum progesterone level influenced the pregnancy rate. METHOD: We studied IVF/ICSI cycles with GnRH antagonist - FSH/hMG protocols in a general population (n = 1210) and a selected "top cycle" population (n = 677), after blastocyst transfer on day 5 or cleaved embryo transfer on day 3. The selected couples had to meet the following criteria: female age < 35, first or second cycle, and one or two embryos transferred. We recorded predictive factors for pregnancy and calculated the progesterone to oocyte index (POI), the progesterone:estradiol ratio (P:E2 ratio), and the progesterone to follicle (> 14 mm) index (PFI). RESULTS: In the general population, the clinical pregnancy rate was significantly higher after blastocyst transfer (33.3%) than after cleaved embryo transfer (25.3%; p <  0.01); the same was true for the birth rate (32.1 and 22.8%, respectively, p <  0.01). The differences between blastocyst and embryo transfer groups were not significant in the selected population (respectively 35.7% vs. 35.8% for the clinical pregnancy rate, and 33.9 and 34.9% for the birth rate). The serum progesterone levels on the eve of the trigger day and on the day itself were significantly lower in the pregnant women (p <  0.01). We found a serum progesterone threshold of 0.9 ng/ml, as also reported by other researchers. The POI and the PFI appear to have predictive value for cleaved embryos transfers. CONCLUSIONS: Blastocyst transfers were associated with higher clinical pregnancy and birth rates than cleaved embryo transfers in a general population but not in a selected population. The serum progesterone levels on the eve of the trigger day and on the day itself predicted the likelihood of pregnancy.

[Which ovarian stimulation to which women: The polycystic ovary syndrome (PCOS)]. / Quelles stimulations pour quelles femmes : le syndrome des ovaires polykystiques (SOPK).

Polycystic ovarian syndrome (PCOS) is a frequent pathology in the young woman, linking infertility to a metabolic disease. Initial support will include a plan (in the case of overweight or obesity) to lose at least 5 to 10% of the weight. Subsequently, clomiphene citrate is the first treatment for ovulation induction with pregnancy rates of 40 to 80% after 6 cycles. If there is resistance to clomiphene citrate, the choice will be between the ovarian drilling (50-60% of pregnancy in the year following, including the half spontaneous) or ovarian stimulation with gonadotropins. The risk of ovarian stimulation in these women is hyperstimulation and multiple pregnancies. We also discuss the place of the GnRH pulsatile administration, insulin-sensitizers, in vitro fertilization and in vitro maturation in these women. Once infertility support, these women should be long-term followed because of the neoplasic and cardiovascular risks they present.

Prenatal diagnosis of a mosaic 45,X/46,X,r(X)46,XX with a small ring of the X chromosome.

We report the prenatal diagnosis of a mosaic 45,X/46,X,r(X)/46,XX foetus after amniocentesis for maternal second-trimester serum screening. Biparental contribution for the X chromosomes suggest the postzygotic formation of the X ring. The ring is tiny but contains the X-inactive-specific transcript gene (XIST). However, we could not determine whether XIST was correctly expressed or not. The foetal ultrasound examination at 21, 25, 31 weeks' gestation showed no physical abnormalities, prompting the parents to continue the pregnancy. Physical examination at one year-old revealed normal growth and psychomotor development. Only three cases exhibiting an identical 45,X/46,X,r(X)/46,XX mosaicism, but detected postnatally, are reported in the literature. This is the first reported case ofa mosaic 45,X/46,X,r(X)/46,XX identified in the prenatal period.

[Congenital atrioventricular block and maternal lupus erythematosus. Histologic discovery of tumor of the atrioventricular node]. / Bloc auriculo-ventriculaire congénital et lupus érythémateux maternel. Découverte histologique d'une tumeur du noeud auriculo-ventriculaire.

A case of congenital atrioventricular block in a newborn whose mother presented with systemic lupus erythematosus (SLE) is reported. Despite intensive care the child died a few hours after birth. Serial sections of the heart could be examined. Histology provided information on the appearance and distribution of the lesions. In particular, the sinus node was small for the child's age, and its supplying artery was found to have a hyperplastic media with adventitial sclerosis; the interatrial and interventricular septa showed subendocardial fibrosis invading the adjacent myocardium. Owing to the scarcity of systematic histopathological examinations, such lesions have seldom been described. In addition, a tumour of the atrioventricular node, known as mesothelioma or hemolymphangioma, was discovered. This case is exceptional in that histopathological findings similar to those described in SLE, though rarely as numerous, were associated with a very rare tumour never hitherto described in such a young patient. The relationship between the two categories of lesions is discussed.

[Prenatal diagnosis of mucoviscidosis. Contribution of DNA analysis of trophoblast biopsies]. / Diagnostics anténatals de mucoviscidose. Apport de l'analyse de l'ADN sur biopsie de trophoblaste.

The gene for cystic fibrosis has been localised on the long arm of chromosome 7. Genetic engineering techniques now make it possible to inform educated families that it is possible to make an early antenatal diagnosis on chorionic villus sampling at the tenth week of pregnancy. We report our experience on ten antenatal diagnosis that were made. Furthermore, we were able to study 48 families with a live child who had the disease, and were able to change the probability of another child being born with the gene. This approach makes it possible for us to change the risk for a couple of giving birth to an affected child. It is also possible to extend the indications for trophoblast analysis to parallel cases where the risk is less than 1 in 4.

[Cystic hygroma of the neck. Antenatal diagnosis, prognostic factors, management. 42 cases]. / Hygroma kystique du cou. Diagnostic anténatal, facteurs pronostiques, contduite à tenir. A propos de 42 cas.

The authors report a series of 42 cases of cystic hygroma of the fetal neck diagnosed antenatally. Cystic hygroma is one of the signs suggestive of chromosomal or congenital abnormalities that occur very early and are very specific. A diagnosis can be made from the ninth week of amenorrhoea onwards by vaginal ultrasound. 73% of the karyotypes that were obtained were abnormal. The large majority (54% = have Turner's Syndrome, but there are some of the karyotypes that are normal. Our figures correspond with those in the literature. Several factors were analysed to show the influence of this pathology on the prognosis which is overall awful (only 11.5% of infants were born alive an only 7.5% survived). Factors for a good prognosis would be a normal karyotype and the spontaneous resolution of cystic hygroma in the second trimester of the pregnancy. Hydrops is a factor of poor prognosis and it occurs in 60% of cases of cystic hygroma but unfortunately 30% of cases where the karyotype is normal have severe malformations (bone, kidney and digestive tract). The resolution of the cystic hygroma in the second trimester of pregnancy does not exclude an abnormal karyotype or a severe congenital malformation associated with the condition. As cases do recur in the same family there is an indication that a suspicion that the condition can be an autosomic, recessive or even dominant condition. The authors advise that the diagnosis should be made early and thoroughly in order to carry out chorionic villus sampling to determine the karyotype early before the very important sign for abnormality disappears as it may.

[Mucoviscidosis: current diagnostic possibilities. Applications in perinatology]. / Mucoviscidose: de nouvelles possibilités diagnostiques. Applications en anténatalogie.

The gene of cystic fibrosis is localised on the long arm of chromosome 7. DNA probes placed close to the gene enable a study of restriction polymorphism to follow the transmission of the gene in index families. It is now possible to counsel those families, who already have an affected child, with an early antenatal diagnosis at ten weeks after the last period. In our personal experience, based on a study of the genotype of 48 families, 70% were informative when they were studied by two probes corresponding to the local pJ3.11 and met. When the latter probes Km19-XV2c were studied concurrently useful information was achieved in 96%. DNA analysis non enables the detection of the chromosome carrying the deleterious gene in practically every family where there is a child suffering from the disease.

[Analysis of 112 haplotypes carrying the cystic fibrosis gene. Applications in genetic counseling]. / Analyse de 112 haplotypes portant le gène cystic fibrosis. Applications dans le conseil génétique.

Cystic fibrosis (CF) is always a common lethal genetic disease. The locus is localized to human chromosome 7q22-7q31. Genetic linkage between the CF locus and polymorphic DNA marker is used to realize family studies. We have genotyped 56 families (352 patients) with a CF child. The informativeness with the six markers (Met D/Taq I, Met H/Taq I, Met H/Msp 1, XV2c/Taq 1, km19/pst pJ 3.11/Msp 1) is important (96%). The linkage desequilibrium between alleles detected by XV2 c and Km 19 described by Estivill and al, is also showed in our population. The haplotype B (Km 19 = 6.6 kb, XV2 c = 2.1 kb) is present on 84% of our 112 CF chromosomes. We have established the frequencies of the 10 possible genotypes in the pool of the 112 CF chromosomes and in the pool of the normal chromosome and according to Bayes obtained the predictive positive value to be heterozygote. It is possible to precise the genetic counselling in these families.

[Intraventricular hemorrhage in utero]. / Hémorragie intraventriculaire in utero.

A case of fetal intraventricular hemorrhage related to subependymal hemorrhage diagnosed by ultrasound scanning at 27 weeks of PMA is reported. No etiology was found. The outcome was favorable. This case suggests that some cases of neonatal idiopathic hydrocephalus may be explained by fetal subependymal/intraventricular hemorrhage.

[Campomelic syndrome. Difficulties in early differential diagnosis from other syndromes involving deformation of the long bones using echography]. / Le syndrome campomélique. Difficultés du diagnostic différentiel précoce par l'échographie avec les autres syndromes de déformation des os longs.

One case of "campomélique" dysplasia discovered by echography at 17 weeks is reported. The details of the syndrome are recalled. In this particular case, only the histology enabled the exact diagnosis to be made. The distinction between "syndrome campomélique" and other syndromes involving deformation of long bones (imperfect osteogenesis of the foetal type and isolated curvature of the tibia) is not easy during early pregnancy using echography alone. At a later stage, the signs and symptoms become more distinct and an exact diagnosis is probably easier.

[Molecular biology and mucoviscidosis. Brest experience in 1987]. / Biologie moléculaire et mucoviscidose. Expérience brestoise en 1987.

The gene for cystic fibrosis is located on the long arm of chromosome 7 at 7q31. The close linkage between the disease locus and several DNA markers allowed a study of the DNA restriction polymorphism pattern in 30 Breton families. The frequency of the haplotypes indicated by the probes pJ 3.11, met H and met D was established reaching a 66.6% informativity for the families studies. The complete informativity of a family allows for detection of heterozygous brothers and sisters, uncles and aunts and for antenatal screening on trophoblast biopsies in case of further pregnancies.

Impaired fetal erythrocytes' filterability: relationship with cell size, membrane fluidity, and membrane lipid composition.

The lipid composition of erythrocytes (red blood cells [RBCs]) plays a significant role in determining certain membrane biophysical properties. We have found that fetal RBCs showed a dramatically low filterability compared with adult RBCs and questioned whether this could be a consequence of their membrane lipid composition. We therefore studied fetal RBCs at two different gestational ages, neonatal RBCs and adult RBCs. Biophysical parameters were studied using two different techniques, filterability and membrane fluidity. The latter was measured by fluorescence polarization using three different probes. The membrane lipid composition was examined by measuring cholesterol and phospholipids. After extraction of the phospholipids, followed by high performance thin-layer chromatography, the fatty acids in the phospholipid subfractions were analyzed by gas-liquid chromatography. The fetal RBCs' filterability was found to be correlated with both the larger size and the higher hemoglobin content of the cells, but there was no correlation between RBC filterability and fluidity or membrane lipid composition. In adult RBCs, compared with neonatal RBCs, the slight increase of unsaturated fatty acids in phosphatidylcholine and phosphatidylethanolamine should have increased the membrane fluidity. However, in RBCs, no change was observed in the fluidity parameters measured by fluorescence polarization.

A comparative prospective study of a chronic low dose versus a conventional ovulation stimulation regimen using recombinant human follicle stimulating hormone in anovulatory infertile women.

The efficacy and safety of a chronic low dose (group A) and a conventional (group B) stimulation regimen of recombinant human follicle stimulating hormone (r-HFSH) were compared in 103 WHO Group II infertile women with clomiphene citrate-resistant anovulation. Mono- or bifollicular development was induced in 88.1% of patients in group A compared with 76.1% in group B. Ovulation and pregnancy rates were higher in group A (71.4% and 33.3%, respectively) than in group B (63.0% and 20%), but these differences were not statistically significant. Additionally, the total number of follicles that were >10 mm diameter was lower in group A than group B (3.0+/-2.6 versus 6.3+/-6.5; P < 0.0001), as was the oestradiol concentration (504+/-477 pg/ml versus 988+/-740 pg/ml; P < 0.03). The median dose of FSH (75 IU ampoules) used per cycle was 11 ampoules in group A and 12.5 in group B. In terms of the incidence of ovarian hyperstimulation syndrome, no differences were recorded between the two groups. The results demonstrated that r-HFSH is effective and safe in both these treatment protocols. The chronic low dose regimen was associated with a trend towards a higher rate of mono- or bifollicular development, without jeopardizing the incidence of pregnancy.

[Fetal supraventricular tachycardias and their treatment. Apropos of 23 cases]. / Les tachycardies supraventriculaires foetales et leur traitement. A propos de 23 cas.

The management of fetal heterotopic tachycardias is reviewed from a cooperative study involving 23 cases treated by French Pediatric Cardiology Centers at Angers, Brest, Nantes, Rennes and Tours. There were 17 cases of supraventricular tachycardia (SVT), 5 of flutter and 1 of atrial tachycardia. Seventeen mothers were given an antiarrythmic treatment. They all received Digoxin by mouth, with either Propranolol in 2 cases, Sotalol and Verapamil in one case each. In 5 cases 2 or more other drugs were associated. There was a good in utero response in 12 cases. Among the 23 patients, 5 died, all with hydrops fetalis at the time of diagnosis of SVT. Finally 2 newborns were successfully treated at the time of delivery by a direct puncture of the umbilical cord.

Prenatal diagnosis of del(15)(q11q13).

A case of del(15)(q11q13) was detected in amniotic fluid cell cultures and confirmed by cordocentesis in a 27-year-old woman with a low maternal serum alpha-fetoprotein level. The fetus was shown to have a short femoral length on ultrasonography. This structural chromosome abnormality associated with the prenatal ultrasonographic findings and the morphological characteristics visualized after termination of pregnancy strongly suggest Prader-Willi syndrome.

[Approaching the gene of mucoviscidosis. New data]. / Approche du gène de la mucoviscidose. Nouvelles données.

We used 5 polymorphic probes strongly linked to the gene of cystic fibrosis (CF) to perform the genotypical study of 48 families with at least one child presenting with the disease. The last Km19 and XV2c probes showed a very important linkage imbalance with the CF gene (allele 2 = 6.6 kb of Km19/Pstl, chi 2 = 56; allele 1 = 2.1 kb of XV2c/Taql, chi 2 = 21). These two markers define a B haplotype which confers a relative risk of 55 to be gene carrier. From these data, the predictive value for an individual presenting with this haplotype to be heterozygous was computed to be 1/5. Presently, the risk of 1/20 for a randomized subject to be gene-carrier should be reexamined after study of this genotype. These results are very important practically, as they modify the classical data of genetic counselling concerning cystic fibrosis for the couples with a risk higher than 1/4.