[Analysis of obstetric-pediatric care in the perinatal period. Are births before 31 weeks' gestation in level 2B maternity units avoidable?] / Analyse des parcours de soins en périnatalité. Les naissances avant 31 SA en maternité de type 2B sont-elles évitables ?

INTRODUCTION: Regionalization of perinatal care has been developed to improve the survival of preterm babies. The mortality rate is higher among very premature infants born outside level-3 maternity units. The objective of this study was to evaluate the preventability of these very premature births occurring outside recommendations within level-2B maternity units. The secondary objective was to describe the care of premature infants between 23 and 24 weeks. METHODS: This is a single-center retrospective qualitative study of the care delivery pathways. Thirty-one deliveries in which the fetus was alive between 23 and 30 weeks+6 days occurred in a level-2B maternity unit in Thionville, France, between 1 January 2013 and 31 December 2015. After oral presentation of the cases, a level 2-3 multidisciplinary committee of experts in Lorraine evaluated the preventability criteria and reasons, and divided the deliveries into three groups: (i) birth in level-2B institutions avoidable, (ii) inevitable with factors related to the mother or the organization of care, (iii) with no inevitable factors. RESULTS: Out of the 31 deliveries included, the committee classified six deliveries as preventable, 14 as inevitable with factors, and 11 as inevitable with no factors. The criteria for preventability of birth in a level-2B unit were underestimation of maternal and fetal risk, an erroneous initial estimate of term or preterm labor, and two births in the upper limits of the French recommendations for in utero transfer. Nineteen of the 35 premature infants before 31 weeks' gestation died, 16 children were transferred to a level-3 maternity ward, and 16 children were allowed to go home. CONCLUSION: Analysis of the obstetrical-pediatric care course by an expert committee determined the preventability of the average birth and prematurity in level-2B maternity units in Lorraine for a small but significant number of cases. The local regionalization of neonatal care could be improved by the application of this method of analysis to other maternity wards in the Lorraine network.

A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations.

OBJECTIVE: To retrospectively define the frequency and the nature of submicroscopic chromosomal imbalances among fetuses with multiple congenital anomalies (MCA). METHODS: We used oligonucleotide arrays to perform comparative genomic hybridization after termination of pregnancy in 50 polymalformated fetuses with a normal karyotype. These fetuses presented with at least three significant malformations (42 cases) or a severe brain anomaly (eight cases). RESULTS: We identified a deleterious copy number variation (CNV) in five fetuses (10%). De novo genomic imbalances identified in this study consisted of a 6qter deletion in a fetus with brain and renal malformations, a mosaicism for a 8p tetrasomy in a fetus with agenesis of corpus callosum, growth retardation, mild facial dysmorphic features, and vertebral anomalies, a 17p13.3 deletion in a fetus with a complex brain malformation, and a partial 11p trisomy in a fetus with severe growth retardation and oligoamnios. In one case, we identified a partial 17q trisomy resulting from malsegregation of a cryptic-balanced translocation. CONCLUSIONS: This study shows that array comparative genomic hybridization (aCGH) is particularly effective for identifying the molecular basis of the disease phenotype in fetuses with multiple anomalies. Our study should help to define clinical relevant regions that would need to be included in targeted arrays designed for prenatal testing.

[Early discharge of newborns: what problems should we anticipate?]. / Sorties précoces de maternité : quels problèmes anticiper ?

INTRODUCTION: Following Nordic and Anglo-Saxon countries, France is directing towards an early discharge policy from maternity hospitals. French National Authority for Health has published recommendations focusing on the importance to highlight the dangers of such a policy so as to be able to anticipate them. AIM: To describe the complications diagnosed in the newborn infants from day 2 to the current hospital's discharge (noteworthy, if infants are discharged early, these complications may occur at home) to determine predictive factors and to validate those proposed by the French National Authority for Health. METHOD: Prospective study conducted in the maternity ward of Nancy's level III facility, from January 6th to May 6th 2005. RESULTS: Nine hundred and three newborn infants were included. Forty-two (4.6%) presented with complications diagnosed from day 2 to hospital's discharge, among which 4 required urgent neonatal care. The most frequent complication was hyperbilirubinemia: 23 newborns were treated with phototherapy between day 2 and day 10. Statistically significant risk factors of hyperbilirubinemia after day 2 in multivariate analysis were instrumental vaginal delivery (OR=2.94; CI 95% [1.04-8.34]) and jaundice before day 2 (OR=7.39; CI 95% [2.66-20.55]). According to the French National Authority for Health's policy, 33 among 42 infants presenting with a complication would have been withdrawn from an early discharge program. CONCLUSION: In our population, French National Authority for Health's recommendations were relevant to guide an early discharge project.

Prenatal diagnosis of mosaicism for 11q terminal deletion.

The phenotype of 11q terminal deletion also known as Jacobsen syndrome is a clinically well known entity whose diagnosis in infancy and childhood is based on clinical examination, hematological and cytogenetic findings. Hematological features in Jacobsen syndrome are very similar to those reported in Paris-Trousseau syndrome (PTS) which is also associated with11q terminal deletion. Karyotype analysis shows a variable terminal deletion from 11q23 sub-band extending to the telomere. Most often in patients with Jacobsen syndrome, this chromosomal deletion is present in all metaphases. We report on the identification of a distal 11q deletion in mosaic (20% of deleted cells) in a fetus ascertained after amniocentesis for maternal serum screening test indicative for Down syndrome. The present case is the third prenatal diagnosis of a mosaic for a distal 11q deletion with the lowest mosaicism rate. The 2D-ultrasound examination and cord blood hematological studies were useful to estimate the prognosis at term, considering the contribution of the mosaicism rate to the phenotypic variability in Jacobsen syndrome. The identification of mosaicism for distal 11q deletion is a very rare event in prenatal diagnosis. This case illustrates the complexity in genetic counselling for prenatally ascertained partial monosomy 11qter in mosaic.

[Management of severe neonatal Rh disease following in utero exchange transfusion: towards a new strategy]. / Prise en charge néonatale des allo-immunisations Rhésus sévères après exsanguinotransfusion in utero: vers une nouvelle stratégie.

Important changes in the prevention, diagnosis, and in utero treatment, of Rhesus allo-immunization in the past 30 years, have led to new neonatal clinical presentations. Based upon the analysis of 14 successive pregnancies with severe hemolytic disease, requiring in utero exchange-transfusion, it appears that the current management is no longer adapted to the new resulting clinical postnatal presentations. In the acute phase, intensive phototherapy associated with regular blood cell transfusion as required, appears to be a better policy than traditional postnatal systematic exchange transfusions. In addition endogenous erythropoiesis stimulation should be included in order to avoid any unnecessary transfusion.

[Twin-twin transfusion syndrome: report of two cases with hemodynamic complications]. / Syndrome transfuseur-transfusé: complications hémodynamiques à propos de deux observations.

CASE REPORTS: We report two cases of cardiac dysfunction in twin-twin transfusion syndrome (TTTS) evaluated with serial echocardiography. Two cases of TTTS were referred at 27 and 26 weeks. At delivery at 31 weeks, the first recipient twin had evidence of severe cardiac dysfunction with decreased ventricular function and transient systemic hypertension. There was polycythaemia. Favorable outcome was observed after treatment with arterial vasodilating (nicardipine) and inotropic agents (dobutamine, enoximone), and reduction of haematocrit. At 28 weeks the other recipient twin had cardiac dilatation with hypokinetic myocardium. These alterations were cured by dobutamine. CONCLUSION: These cases show that even severe cardiac dysfunction may be reversed after birth unlike in utero natural evolution.

Use of the Kleihauer test to detect fetal erythroblasts in the maternal circulation.

Non-invasive prenatal diagnosis of aneuploidies on fetal nucleated erythrocytes present in the maternal circulation is hampered by the extremely small cell number of uncertain origin (70% of erythroblasts circulating during pregnancy have a maternal origin). Therefore, a method allowing selection of the fetal cells among the maternal cells is indispensable after the erythroblast enrichment step. In the present study, after an erythroblast enrichment step on a ficoll gradient followed by a positive immuno-magnetic selection with anti-CD71 or anti-GPA antibodies, a rapid, simple and direct chemical staining method adapted from the classical Kleihauer test was developed to select fetal cells. Precise differentiation between fetal and maternal erythroblasts is based on the constitutional difference between fetal and adult haemoglobin (Hb). The fetal cells appear with an intense pink cytoplasmic staining while maternal cells with adult haemoglobin are colourless. Preservation of the cytoplasmic integrity allows one to distinguish morphological characteristics and to visualize simultaneously nuclear hybridization signal by FISH (fluorescent in situ hybridization). This approach was tested by FISH analysis using dual-colour X- and Y-specific DNA probes on blood samples from 15 pregnant women, with the results being compared to cytogenetic or sonographic sex determination. For 12 pregnancies fetal sex was determined successfully (5 XY/7 XX), in two cases in situ hybridization failed, and in one case no fetal erythroblast was observed after the Kleihauer test. The selection method was applied to a pregnancy at risk for cystic fibrosis (CF). After a Kleihauer test, fetal erythroblasts were collected by microdissection, whole genomic DNA was amplified by primer extension pre-amplification (PEP) followed by a nested CF PCR. The fetal genotype was successfully characterized and confirmed by conventional prenatal diagnosis.

[Prenatal diagnosis of a pancreatic cyst due to Ivemark II syndrome]. / Diagnostic anténatal de kyste pancréatique révélateur d'un syndrome d'Ivemark II.

We present a case of pancreatic cyst associated with other malformations which was diagnosed at antenatal ultrasound. Renal, hepatic, and pancreatic dysplasia as described by Ivemark in 1959 was confirmed by the pathology examination. This uncommon and lethal syndrome demonstrates autosomic recessive transmission. Ultrasound evidence of renal, hepatic and pancreatic dysplasia, associated with femoral abnormalities is suggestive of Meckel's syndrome. Other differential diagnoses are more easily distinguished (chondrodysplasia, chromosomal or metabolic abnormalities).