[Antenatal care : anticipating for future mother and child]. / Consultation prénatale†: anticiper pour les futures mères et enfants.

Prenatal care allows early detection of risks and complications in the pregnant women in an attempt to minimize problems at birth and delivery. In Geneva, prenatal care is organized as a collaboration between private and liberal in-hospital network with a ranking in the pregnancy risk levels to adapt follow-up. The perinatal care structure should be built in a way to identify risks prompting professionals to adapt from the normal physiological care to a therapeutic escalation one appropriated to the detected risk level. Effective inter-professional collaboration around the mother-child dyad (and even the family) depends on a privileged multidisciplinary interaction platform in which, wide inter-professional communication, particularly between midwife-obstetrician-neonatalogist, is essential.

La prise en charge prénatale permet d'anticiper les complications afin de minimiser les risques au moment de l'accouchement et de la naissance. En Suisse, elle s'organise autour d'une collaboration du réseau libéral et hospitalier avec une hiérarchisation du niveau de risque de la grossesse pour le suivi. La structure de la prise en charge périnatale doit être construite de façon à identifier les risques obligeant les professionnels à sortir de la voie physiologique classique pour une escalade thérapeutique anticipative, appropriée selon les niveaux de risque. Une collaboration efficace autour du couple mère-enfant (ou même de la famille) dépend donc d'une plateforme d'interaction multidisciplinaire privilégiée dans laquelle la communication interprofessionnelle, et particulièrement sage-femme-obstétricien-néonatologue, est essentielle.

Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion.

An isolated pericardial effusion was observed during a routine prenatal ultrasound in a fetus of 30 and 3/7 weeks gestation. Amniocentesis was performed and revealed a trisomy 21. After prenatal counseling, the parents opted for termination of the pregnancy at 32 weeks. Postmortem examination confirmed the presence of a pericardial effusion, without structural cardiac anomalies, and showed the development of ascites and subcutaneous edema. Histological examination showed an infiltrate of megakaryoblasts and irregular, dysplastic megakaryocytes confined to the epicardium, the pericardial lymph nodes, and the pancreas, consistent with a myeloid proliferation related to Down syndrome. Sequencing of exons 2 and 3 of the GATA1 gene from the umbilical cord blood and from megakaryoblast infiltrate showed no mutation. A high incidence of chromosomal abnormalities, in particular trisomy 21, has been described in fetuses with pericardial effusion. However, myeloid proliferation related to Down syndrome without GATA1 mutations is extremely rare. To our knowledge, only one such case has been reported to date. We present here a 2nd case, which further supports the hypothesis that hyperproliferation of megakaryocytes in a subset of Down syndrome patients may be initiated by events other than GATA1 mutations.

[Antenatal screening for Down syndrome: a smattering of epidemiology]. / Dépistage anténatat de la trisomie 21: quelques notions d'épidémiologie.

Maternal age per se is not an indication for chorionic villous sampling or amniocentesis anymore. Although the risk for fetal Down syndrome increases with maternal age, it must be adjusted after other screening tests are performed. Current recommendations include ultrasound measurement of the fetal nuchal transluciency, and of maternal PAPP-A and free-b-hCG in addition to maternal age. This strategy has a sensitivity of 80 to 90%, with false positive rate of 5%. The thickness of fetal nuchal transluciency is strongly associated with the risk of Down syndrome, and measurement must be performed by an experie ced sonographer. For women with an intermediate risk (1/380 to 1/1000), a genetic son gram allows a reassessement of the risk and may help couples to make a decision of invasive sampling.

A neonate with isolated combined aortic and pulmonary valvar stenosis.

We present an extremely rare combination of isolated valvar pulmonary and aortic stenosis in a newborn patient. Most publications describe this feature in patients beyond the neonatal period and in association with other structural, myocardial or endocardial diseases. Our patient required an urgent and successful percutaneous pulmonary valvuloplasty due to poorly tolerated right ventricular hypertension and dilatation compressing the left ventricle.

Age-related performance of human papillomavirus testing used as an adjunct to cytology for cervical carcinoma screening in a population with a low incidence of cervical carcinoma.

BACKGROUND: High-risk human papillomavirus (HR-HPV) testing has been proposed as a replacement for cytology or as an adjunct to cytology for primary cervical carcinoma screening. The objective of this study was to assess the age-specific prevalence of HR-HPV infection and the correlation between HR-HPV status and cytologic diagnosis. METHODS: The authors enrolled 7254 women receiving routine cytologic screening in a cross-sectional study that was conducted during 12 months. Cervical samples were collected using liquid-based cytology to perform both Papanicolaou smears and HR-HPV testing. Analyses were performed using age stratification, and the cytologic results were considered as the reference diagnosis for parameter analysis tests. RESULTS: The overall rate of HR-HPV infection was 11.4% (95% confidence interval, 9-12%) and was higher in younger women compared with older women (age < 30 years vs. > or = 30 years; 16% vs. 8.5%, respectively; P < 0.0001). The overall rate of abnormal cytology was 3.2% and, similarly, was more prevalent in younger women (6.1% vs. 2.4%; P < 0.0001). The best balance between sensitivity and specificity for high-grade lesions or worse occurred predominantly in older age groups (age > or = 50 years). CONCLUSIONS: The prevalence of HR-HPV was age-dependent, with the strongest correlation between HR-HPV positivity and disease observed among older women, who potentially may derive the most benefit.

Early and late half-life of human chorionic gonadotropin as a predictor of persistent trophoblast after laparoscopic conservative surgery for tubal pregnancy.

BACKGROUND: To determine if the early or late half-lives (T0.5) of human chorionic gonadotropin (hCG) can identify patients with persistent trophoblastic activity after conservative surgery for tubal pregnancy. DESIGN: Prospective cohort study. SETTING: Department of obstetrics and gynecology of a university hospital. METHODS: All patients with a tubal pregnancy treated by laparoscopic salpingostomy between June 1997 and September 2000 were enrolled in the study. Postoperative sequential hCG sampling was performed at days 0, 2 (+/- 1) and 7 (+/- 2) and followed until levels were undetectable. Taking the biexponential hCG declining curve as a model, we calculated the early (days 0-2) and late (days 2-7) T0.5 hCG values. MAIN OUTCOME MEASURE: To assess success or failure of surgical treatment. RESULTS: Seventy-three patients with an ectopic pregnancy were managed by conservative surgery. Early and late T0.5 allowed us to identify 2/10 and 9/10 women, respectively, with persistent trophoblast. Late T0.5 levels revealed two patients with false-positive values, but one patient showed a secondary increase in hCG after day 7 (false-negative) despite a normal late T0.5. CONCLUSIONS: Early and late half-lives of hCG do not identify all women at risk for persistent ectopic pregnancy. To exclude persistent trophoblast, postoperative serum hCG determination should be performed until levels are undetectable.

Is genetic analysis useful in the routine management of hydatidiform mole?

Complete hydatidiform mole and partial hydatidiform mole are two abnormal conceptuses that may be identified by clinical, ultrasonographic, gross morphological, histological, and genetic characteristics. Among all these criteria, the specific diagnosis is generally confirmed only upon histological review. However, an accurate diagnosis based on morphological criteria is difficult and several studies have shown that misclassifications are frequent, even for experienced pathologists. An erroneous diagnosis may imply that women are either not enrolled in an adequate beta-hCG follow-up with the risk that hydatidiform mole (HM) progresses to choriocarcinoma, or are enrolled in an unnecessary follow-up. A reliable and complementary method to the pathologic interpretation is a genetic study of the conceptus to eliminate the diagnostic dilemma by distinguishing non-molar spontaneous abortions from HM and to define the type of HM. The aim of our study was to review the genetic basis of HM and discuss its relevance in the routine management of the disorder.