Test non invasif et diagnostic de sexe fœtal : où en est-on ?

Non-invasive genotyping of the sex of a foetus has revolutionised the care given to female carriers of genetic disorders linked to the X chromosome. This test is also used in other circumstances, such as in the treatment of congenital external genital organ (EGO) deformities or in pregnancies with congenital adrenal hyperplasia, at risk of virilisation of the female EGOs. This test has excellent diagnostic success in the first trimester of pregnancy.     

Apport du génotypage fœtal non invasif sur sang maternel pour la prise en charge des allo-immunisations antiérythrocytaires et la prévention Rhésus

Using a genetic amplification technique, noninvasive foetal erythrocyte genotyping is based on the possibility of identifying the genes carried by the foetus, and which are not shared with the mother, in the DNA extracted from her plasma. This technique is a huge breakthrough in the management of situations at risk of immunisation and known foeto-maternal incompatibilities. It enables: 1) the administration of anti-D immunoglobulins to be avoided for RhD-negative women who are pregnant with a foetus who is also RhD-negative and thus eliminates the risk of immunisation; 2) foeto-maternal RhD incompatibility situations to be identified or eliminated and justifies the specific monitoring of repeated anti-D antibody titres/dosages and the monitoring of middle cerebral artery peak velocity; 3) a foetomaternal incompatibility situation in the Kell system to be identified or eliminated. Techniques are progressing year on year; they are becoming more and more reliable and the use of these tests for all immunised pregnant women who are RH:-1 (RhD-negative) or KEL:-1 (Kell negative) is seen on a daily basis in maternity units. The Haute Autorité de santé (HAS) has positively assessed the benefit of the use of non-invasive foetal RHD genotyping, however this procedure is yet to feature in everyday nomenclature. The GENIFERh study, including data that is still being analysed, will enable medical and economic aspects to be determined for the various non-invasive foetal genotyping strategies available.     

Diagnostic prénatal non invasif : de la détermination du sexe f?tal à la détection d’aneuplo?die

Prenatal diagnosis aims at detecting in utero fetal diseases. It often requires an invasive fetal sampling, whose main complication is the occurrence of miscarriages in 0.5 to 4% of cases. The discovery of free fetal circulating DNA in maternal plasma in the late 1990s has enabled the development of techniques for non-invasive prenatal diagnosis. Fetal sex determination and RHD genotyping are now part of current practices and help to reduce the number of invasive samplings and inappropriate treatments. While the noninvasive diagnosis of monogenic diseases is still at the stage of development, recent technological advances ?? including next-generation sequencing??have made possible the diagnosis of trisomy 21 from maternal blood, whose contribution remains yet to be defined in patients?? management.     

Salpingectomie bilatérale aux fins de contraception permanente : série de cas et facteurs limitant le changement de pratique

ObjectiveThe Society of Obstetricians and Gynaecologists of Canada (SOGC) and the Society of Gynaecologic Oncology of Canada (GOC) recommend complete removal of the fallopian tubes as a permanent contraceptive method because of its association with a reduced risk of ovarian cancer. Currently, many women are not offered bilateral salpingectomy as an alternative to tubal ligation for permanent contraception.MethodAs part of a quality improvement initiative, we reviewed all cases of sterilization performed at our university centre between 1 January and 31 December 2018. A literature review of the clinical and ethical considerations that prevent clinicians from offering bilateral salpingectomy as permanent contraception is also presented.ResultsThe records of 111 women who underwent tubal sterilization were reviewed. Of these, 31.5% underwent bilateral salpingectomy; 46.8% underwent tubal fulguration; 12.6% underwent clip ligation; and 9.1% underwent tubal implant ligation (Essure). According to the information on file, only 36.3% of women were offered bilateral salpingectomy, and of these, 83.8% chose this method.ConclusionBilateral salpingectomy should be offered to all women seeking permanent contraception. The benefits and very low risks associated with this procedure should make it a first choice option.     

Causes spermatiques et échecs de fécondance : quelles explorations autres que le spermogramme ?

Conventional in vitro fertilization (cIVF) is an assisted reproductive technologies (ART) procedure, which requires both a sufficient number of motile sperm to be inseminated around the oocyte but also an optimal fertilizing ability of the inseminated sperm. Thus, the frequency of the risk that this method leads to a failure of fertilization varies depending on the cIVF indication and is enhanced if no factor of infertility was found in the first-line examination, suggesting a "qualitative" incapacity of the sperm to fertilize. Thus, many secondary sperm tests have been studied to know whether they could predict such fertilization failure The aim of this review is then to analyze the literature interested on these secondary specialized explorations sperm and their ability to predict the fertilization rate following cIVF, especially when an idiopathic (normal conventional sperm examination, including normal pelvic laparoscopy) or a pseudo-idiopathic infertility (normal conventional sperm examination, but non-done pelvic laparoscopy) are suspected.     

Reprise chirurgicale des carcinomes canalaires in situ pour exérèse non in sano : existe-t-il des facteurs de risque ?

ObjectivesDuctal carcinoma in situ (DCIS) is a common breast lesion (10% of breast cancers). In most of the cases the standard treatment is a partial mastectomy combined with adjuvant irradiation. However, when positive margins (< 2 mm) occur, surgical re-excision is necessary. The purpose of our study was to determine the rate of reoperation for positive margins in DCIS and identify potential preoperative risk factors of unhealthy margins.Patients and methodsThis is a retrospective study of 63 patients. We collected cases of DCIS at the Lille and Valenciennes’ hospitals from the 1st of January 2007 till the 1st of January 2012.ResultsFifty patients have had a partial mastectomy and 28 patients (56%) have had one or two complementary interventions to get healthy resection margins. The pathologic tumor size (> 10 mm) appears to be a risk factor for positive margins.Discussion and conclusionFew studies were aimed at identifying risk factors for unhealthy margins for DCIS. The main risk factors found in the literature are: the presence of comedonecrosis, tumor greater than 10 mm, a palpable tumor, the absence of a preoperative biopsy, the low-grade lesions. Our study confirmed the influence of tumor size greater than 10 mm as a risk factor for positive margins.     

Les soins centrés sur l’enfant et sa famille et le modèle du <Emphasis Type="Italic">couplet care</Emphasis> scandinave : un modèle applicable à la France ?

NICUs (Neonatal Intensive Care Unit) are a highly technical environment disrupting prematurity and brain development. Premature infants are able to interact with the environment and their parents. Parents have trouble finding their role and to feel parents. This is why the Scandinavian countries have implemented patient- and family-centered care and mother-to-child couplet care. These models require changing architecture, organization of care in the NICUs, and the philosophy of care.     

Maladie de Hodgkin et cancer du sein : une association pour quelles patientes ? À propos d’une série de l’institut Bergonié

ObjectiveBreast cancer is the most frequent secondary tumor for women treated for Hodgkin's disease. It is important to study the risk factors associated to be able to adapt the monitoring of these women.Patients and methodsThis is a retrospective study from Institut Bergonié, a comprehensive French Cancer Center, concerning the women treated for Hodgkin's disease and having developed a breast cancer.ResultsAmong 328 women treated for Hodgkin's disease between January 1968 and December 1994, 20 patients developed 25 breast cancers. The average age of the patients during the irradiation was 24 years and the average period of occurrence of the cancer was 19 years. An irradiation of the chest wall and an under-diaphragmatic irradiation in doses of 40 Gy are risk factors for the occurrence of breast cancer. A young age, less than 30, in the treatment of Hodgkin's disease tend to be significant.Discussion and conclusionThis population of women with a high risk of breast cancer thus has to benefit from an appropriate monitoring program, which is what we suggest setting up in the Institut Bergonié.