Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.

OBJECTIVE: Prenatal Binder profile is a well known clinical phenotype, defined by a flat profile without nasal eminence, contrasting with nasal bones of normal length. Binder profile results of a hypoplasia of the nasal pyramid (sometimes referred to as maxillonasal dysplasia). We report 8 fetuses prenatally diagnosed as Binder phenotype, and discuss their postnatal diagnoses. METHODS: Ultrasonographic detailed measurements in 2D and 3D were done on the 8 fetuses with Binder profile, and were compared with postnatal phenotype. RESULTS: All fetuses have an association of verticalized nasal bones, abnormal convexity of the maxilla, and some degree of chondrodysplasia punctata. The final diagnoses included fetal warfarin syndrome (one patient), infantile sialic acid storage (one patient), probable Keutel syndrome (one patient), and five unclassifiable types of chondrodysplasia punctata. CONCLUSION: This series demonstrates the heterogeneity of prenatally diagnosed Binder phenotype, and the presence of chondrodysplasia punctata in all cases. An anomaly of vitamin K metabolism, possibly due to environmental factors, is suspected in these mild chondrodysplasia punctata. We recommend considering early prophylactic vitamin K supplementation in every suspected acquired vitamin K deficiency including incoercible vomiting of the pregnancy.

Fetal lung volumetry using two- and three-dimensional ultrasound.

OBJECTIVES: To compare methods of measuring fetal pulmonary volume and to establish nomograms of fetal pulmonary volume according to gestational age for the accurate diagnosis of pulmonary hypoplasia. METHODS: Three methods of measuring fetal pulmonary volume in 39 normal fetuses were compared: two-dimensional (2D) ultrasound measurement assuming that the lung is a geometrical pyramid, three-dimensional (3D) ultrasound using the VOCAL rotational method, and the conventional multiplanar 3D mode. Linear regression was used to construct an equation for 3D volume calculation from 2D measurements (the re-evaluated pulmonary volume equation (RPVE)). Lung volume measurements were recorded from 622 singleton fetuses in order to construct nomograms. RESULTS: There was no statistically significant difference between the lung volume values obtained using the two 3D modes. However, in comparison with the 2D measurements the volumes obtained were larger (mean difference = 11.99, P < 0.1 x 10(-6)). The relationship between the 2D and 3D volumes was determined using a statistical linear regression method: RPVE (mL) = 4.24 + (1.53 x 2DGPV), where 2DGPV (2D geometric pulmonary volume) = (surface area right lung base (cm2) + surface area left lung base (cm2)) x 1/3 height right lung (cm). Two nomograms were constructed, one for use with 2D and one for 3D technology. CONCLUSION: 2D pulmonary volume assessment can be used in clinical situations where fetal prognosis depends on lung volume and its growth potential. It is routinely available and easy to perform particularly when repeat measurements are required in evaluation of lung growth. We therefore propose this method as an alternative to magnetic resonance imaging or 3D ultrasound.

ALK probe rearrangement in a t(2;11;2)(p23;p15;q31) translocation found in a prenatal myofibroblastic fibrous lesion: toward a molecular definition of an inflammatory myofibroblastic tumor family?

A prenatal tumor located in the lumbar paravertebral area was discovered during a routine ultrasound examination at 32 weeks of pregnancy and surgically removed at 4 months of life. The histopathological diagnosis was first suggested to be an infantile desmoid fibromatosis. The tumor karyotype showed a three-way translocation involving both chromosomes 2 and a chromosome 11, t(2;11;2)(p23;p15;q31). Fluorescence in situ hybridization with a probe flanking the ALK gene at 2p23 demonstrated a rearrangement, as previously described in inflammatory myofibroblastic tumors (IMTs). In light of the genetic analysis, the histopathological diagnosis was revised to IMT, although inflammatory cells were scarce. IMTs are pseudosarcomatous inflammatory lesions that primarily occur in the soft tissue and viscera of children and young adults. Our report describes for the first time the occurrence of IMT during prenatal life. The ALK rearrangement may represent the molecular definition of a subgroup of mesenchymal tumors, not always with complete morphological features of IMT, similar to the model of EWS rearrangement in the Ewing sarcoma family of tumors.

[Advantages of studying the frontal plane of the uterine cavity in 3D ultrasound]. / Apport de l"étude de la coupe frontale de la cavité utérine en échographie 3D.

Recently, computer-assisted treatment of echographic images has permitted '3D' reconstruction in gynecology. This is achieved by scanning a given volume containing the organ of interest. Two practical options exist. Some ultrasound probes are equipped with an automatic scanning device while others use manual scanning, electronically normalized or not. Both approaches make possible of an electronic matrix, i.e., a pile of '2D' echographic images. Secondary cuts are possible through the electronic matrix, including plans not normally accessible to ultrasound scanning because of anatomical limitations. One of the secondary cuts most clinically useful is the frontal plan of the uterus. This enables one to visualize the organ lying flat as it is commonly drawn on medical sketches. Studying the frontal plan of the uterus acquired electronically from a 3D matrix improves the visualization of possible interactions between structures such as uterine fibroids and the endometrium. The frontal plan of the uterus also offers marked improvements for studying uterine malformations.

[Value and indications for nipple stimulation in obstetrics]. / Intérêt et indications de la stimulation mamelonnaire en obstétrique.

The authors have evaluated the effect of stimulation of the breast on uterine tone in a series of 25 patients at term where induction of labour was indicated for obstetric reasons. In 64% of cases breast stimulation carried out for 30 minutes was followed by uterine contractions. In 20% of these cases the authors found that the uterus contracted strongly and in two patients so strongly as to cause fetal heart slowing. Breast stimulation matures the cervix slightly but this is not statistically significant for Bishop's score. In 16% of case breast stimulation provoked labour. Analysing these results and studying the literature shows that the effect is linked to the degree of cervical maturity at the onset and the effect of stimulation depends also on the length of time the stimulation was carried out. In practice the use of breast stimulation is limited because of the risks of hypertonic contractions and this is turn requires careful fetal heart monitoring.

[Hemoglobin A1c and its variations in pregnancy]. / L'hémoglobine A1c et ses variations au cours de la grossesse.

Variations in haemoglobin A1c were studied at different stages of pregnancy in 306 non-diabetic women, using a specific method. It was found that HbA1c levels progressively decreased during the first 25 weeks of pregnancy, then remained stable. No correlation was noted between carbohydrate metabolis and Hb A1c levels. The new assay provides additional information on glucose tolerance in pregnant women and could be used to detect gestational diabetes.