[Confined placental mosaicisms a priori from meiotic origin: analysis of 10 cases]. / Anomalies chromosomiques limitées au placenta a priori d'origine méiotique : à propos de dix cas.

This retrospective monocenter study focused on confined placental mosaicisms a priori from meiotic origin (i.e. non-mosaic type 3 confined placental mosaicisms). From a series of 14,967 chorionic villus samplings performed in our Fetal Medicine Center, 10 non-mosaic type 3 confined placental mosaicisms were identified. These abnormalities only involved chromosomes 15, 16 or 22. Pregnancies complicated by these confined placental mosaicisms were associated with prematurity and neonatal hypotrophy. Thus, when a confined placental mosaicism is suspected, this retrospective study highlighted the need to characterize the type of confined placental mosaicism to prevent the probable intra-uterine growth retardation and to adapt the obstetrical monitoring if necessary.

[Sequential use of cervical length measurement before fetal fibronectin detection to predict spontaneous preterm delivery in women with preterm labor]. / Utilisation séquentielle de la longueur échographique du col utérin puis de la détection de la fibronectine foetale pour prédire une prématurité spontanée en cas de menace d'accouchement prématuré.

OBJECTIVE: To test a sequential test with fetal fibronectin detection after ultrasound measurement of cervical length to predict preterm delivery in women with preterm labor. STUDY DESIGN: Descriptive retrospective study on 111 women hospitalised for preterm labor between 24 and 34 weeks and six days of gestation. The primary outcomes were preterm delivery before 34 or 37 weeks of gestation or within seven or 14 days. Selective use of fetal fibronectin detection after cervical length measurement has been tested, with a sequential test considered positive if cervical length was inferior or equal to 15 mm or if cervical length was between 16 and 30 mm with fetal fibronectin positive. RESULTS: The sensitivity/specificity/and positive and negative predictive values of fetal fibronectin positive were 75, 71, 17 and 97% for delivery within 14 days; those of cervical length inferior or equal to 20mm were 75, 52, 21, and 92% for delivery before 34 weeks. The efficiency of the sequential test was similar with excellent negative predictive value: sensitivity/specificity/and positive and negative predictive values of 75, 63, 26, and 93.5% for prediction of preterm delivery before 34 entire weeks. The use of this sequential test could have avoided 37% of fibronectin tests. CONCLUSION: A sequential test with selective use of fetal fibronectin detection in population selected by ultrasound measurement of cervical length appears to be as effective than fetal fibronectin detection or cervical length alone for predicting preterm birth, if preterm labor, avoiding more than one third of fibronectin tests.

First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies.

OBJECTIVES: To examine the reliability of interphase FISH analysis of the main aneuploidies performed on mesenchymal core when prenatal diagnosis was performed on pregnant women with first-trimester fetal abnormalities on ultrasound. STUDY DESIGN: 386 first-trimester prenatal examinations were investigated from chorionic villus samplings for increased nuchal translucencies or other fetal ultrasound abnormalities. Interphase fluorescence in situ hybridization (FISH) for the main aneuploidies (trisomies 13, 18, 21 and gonosomal aneuploidies) was performed on the mesenchymal core of villi. Molecular cytogenetic results were always complemented by conventional cytogenetic results on long-term cultured villi (LTC-villi). Short-term cultured villi (STC-villi) preparations were retrospectively performed only when a chromosomal abnormality was observed with interphase FISH and/or LTC-villi. RESULTS: 88 chromosomal abnormalities (88/386=22.8% of first-trimester diagnoses) which could discuss subsequent abortions were observed after LTC-villi preparations. All cases possibly detectable by interphase FISH were detected. Thus, 85 aneuploidies (85/386=22.0% of first-trimester diagnoses; 85/88=96.6% of chromosomal abnormalities) were detected by interphase FISH, allowing early abortion by curettage before week 14 amenorrhea. No discrepancy occurred between interphase FISH and LTC-villi results for the aneuploidies studied. Three false-negative results (3/386=0.77% of first-trimester diagnoses; 3/88=3.41% of chromosomal abnormalities) were observed with STC-villi. CONCLUSION: We observed a high rate of false-negative results on cytotrophoblast cells. Conversely, interphase FISH of the main aneuploidies on the mesenchymal core provided rapid and reliable results, and therefore should be preferred to STC-villi in first-trimester prenatal diagnosis performed on pregnant women with fetal abnormalities on ultrasound.

Pain experience during chorionic villus sampling and amniocentesis: a preliminary study.

OBJECTIVE: To investigate the maternal perception of pain before and after amniocentesis (AC) or transabdominal chorionic villus sampling (TA-CVS). STUDY DESIGN: Three hundred women were divided into groups of 100 participants destined to undergo three different fetal sampling procedures: amniocentesis (group 1), transabdominal chorionic villus sampling (CVS) with a 19 gauge Blache needle (group 2) and transabdominal CVS with a 20 gauge needle (group 3). The visual analog scale (VAS) was used to quantify the patient's pre-sampling expected pain level and the real pain level was measured immediately after the sampling procedure. The factors liable to influence the VAS score after the sampling procedure were studied by single and multivariate analysis and concerned either the sampling procedure or patient demographic data. RESULTS: The VAS scores obtained before the procedure were not significantly different for the three sampling groups. When performed with a 19 gauge Blache needle TA-CVS is significantly more painful than the other sampling procedures (p=0.0002): VAS score of 3.62 (group 2), 2.49 (group 3) and 2.68 (group 1) for CVS with 20 gauge needle and amniocentesis. Multivariate analysis identified a group of patients for which the perception of pain induced by sampling was higher compared to the other patients: nulliparous patients, having undergone 19 gauge Blache needle CVS, with a high pre-sampling VAS score. CONCLUSION: Transabdominal chorionic villus sampling with a 19 gauge Blache needle seems to be the most painful sampling procedure. We question the need to use a 19 gauge needle as acceptable results are obtained with a 20 gauge needle.

Nonoperative management of spontaneous splenic rupture in infectious mononucleosis: the role for emerging diagnostic and treatment modalities.

Infectious mononucleosis (IM) is a self-limiting lymphoproliferative disorder affecting teenagers and young adults. Splenomegaly is a common manifestation of IM and results in a compromised organ that may rarely rupture spontaneously, with significant morbidity and mortality. The IM spleen should be protected from even minor trauma. Although traditional management of spontaneous splenic rupture in IM has been splenectomy, the role of nonoperative management is evolving. The advent of endovascular interventional modalities has augmented the physician's armamentarium in managing these patients nonoperatively. We report a case of spontaneous splenic rupture in a patient with IM managed conservatively with the aid of splenic angiography. The option of arteriography, with or without embolization, should be considered in the management of all patients with spontaneous splenic rupture in the setting of IM.

Differential expression of the nm23 genes in the developing human trophoblast.

NDP kinases are the non-specific enzymes which catalyse the synthesis of the NTPs through a transfer reaction using ATP as phosphoryl donor. In addition to their enzymatic activity, they display other not yet explained functions related to cell growth, differentiation and apoptosis, embryonic development, tumour progression and metastasis. In this study, the expression patterns of the three highly related NDP kinases A, B and C isoforms were investigated in the developing human trophoblast. Both NDP kinase A and B were found to be primarily present in the villous and extravillous cytotrophoblasts, while NDP kinase C was found almost exclusively in the syncytiotrophoblast layer. This suggests that NDP kinase A and B could be a marker for the mononuclear stage of differentiation of villous trophoblasts, while NDP kinase C could be a marker of the syncytiotrophoblast layer.

Pregnancy outcome and prognosis in fetuses with increased first-trimester nuchal translucency.

OBJECTIVE: One of the concerns of prenatal diagnosis is to find sensitive markers to screen for chromosome abnormalities, such as serum assays or nuchal translucency (NT). This study reports our experience with NT measurement during the first trimester of pregnancy. MATERIALS: The study was performed prospectively on 252 fetuses with either NT > or =3 mm or cystic hygroma. RESULTS: We observed 50 abnormal karyotypes, i.e. 19.8%. The incidence of chromosome abnormalities increased with increasing maternal age and increasing NT thickness. For the 202 fetuses with normal karyotypes, outcome was unfavourable in 32 cases: 23 elective terminations of pregnancy, 8 spontaneous abortions and 1 neonatal death. Outcome was favourable in 141 cases. Twenty-nine pregnancies were lost to follow-up. CONCLUSION: Measurement of NT at 12 weeks' gestation seems to be a good marker for chromosome abnormalities. When the karyotype is normal, the pregnancy outcome remains correlated with the degree of NT thickness. The finding of NT >3 mm between 10 and 14 weeks' gestation dictates rigorous ultrasound monitoring and caution when predicting pregnancy outcome.

[The value of hysteroscopy after repeated implantation failures with in vitro fertilization]. / Intérêt de l'hystéroscopie après échecs répétés d'implantation en fécondation in vitro.

OBJECT: we attempt to determine the usefulness of uterine re-assessment by hysteroscopy in women with two unsuccessful IVF-ET attempts. MATERIAL AND METHOD: This retrospective study concerns seventy-three infertile women who have had a repeat uterine hysteroscopy after two implantation failures in IVF. RESULTS: In half the cases, an abnormality was diagnosed. Cervical abnormalities (synechia, polyp, false passage) and hormono-dependent abnormalities (polyp, hyperplasia, submucous myoma) were the most frequent findings. The rate of pregnant women raises to twenty-two percent after treatment of these abnormalities. CONCLUSION: Regarding our experience, it seems legitimate to perform hysteroscopy in women who have had two IVF-ET failures before attempting a third procedure.

[Liposarcoma of the breast. A case report]. / Liposarcome du sein. A propos d'un cas.

Liposarcoma of the breast is an unfrequent tumor that can be found in 45-55-year-old women, usually with benign clinical and radiological characteristics. We report the case of a 50-year-old patient treated with menopausal hormonal replacement therapy, for whom mammographic screening revealed a solid tumor. Lumpectomy was performed and histology reported liposarcoma of the breast. Two years after surgery alone no relapse was observed. Our case report underlines the possibility of discovering this type of tumor by means of mammographic examination performed during menopausal hormonal replacement therapy. It suggests good prognosis after surgery alone.

Postradiation colospinal fistula: a rare cause of spinal epidural abscess.

We describe a rare case of spinal epidural abscess, which resulted from a colospinal fistula that developed as a complication of previous surgical resection and radiotherapy for rectal carcinoma. The patient's clinical course and the imaging features of colospinal fistula are described, along with a brief review of the literature.

Diprosopia revisited in light of the recognized role of neural crest cells in facial development.

OBJECTIVE: The aim of this study is to compare the theory of embryogenesis of the face with human diprosopia. This peculiar form of conjoined twinning is of great interest because 1) only the facial structures are duplicated and 2) almost all cases have a rather monomorphic pattern. The hypothesis is that an initial duplication of the notochord leads to two neural plates and subsequently duplicated neural crests. In those conditions, derivatives of the neural crests will be partially or totally duplicated; therefore, in diprosopia, the duplicated facial structures would be considered to be neural crest derivatives. If these structures are identical to those that are experimentally demonstrated to be neural crest derivatives in animals, these findings are an argument to apply this theory of facial embryogenesis in man. METHODS: Serial horizontal sections of the face of two diprosopic fetuses (11 and 21 weeks gestation) were studied macro- and microscopically to determine the external and internal structures that are duplicated. Complete postmortem examination was performed in search for additional malformations. RESULTS: The face of both fetuses showed a very similar morphologic pattern with duplication of ocular, nasal, and buccal structures. The nasal fossae and the anterior part of the tongue were also duplicated, albeit the posterior part and the pharyngolaryngeal structures were unique. Additional facial clefts were present in both fetuses. Extrafacial anomalies were represented by a craniorachischisis, two fused vertebral columns and, in the older fetus, by a complex cardiac malformation morphologically identical to malformations induced by removal or grafting of additional cardiac neural crest cells in animals. CONCLUSION: These pathological findings could identify the facial structures that are neural crest derivatives in man. They are similar to those experimentally demonstrated to be neural crest derivatives in animals. In this respect, diprosopia could be considered as the end of a spectrum, whereas the other end is agnathia-holoprosencephaly complex. This assumption has to be discussed, but we want to draw attention to the fact that diprosopia must not be considered as a curious form of conjoined twinning, but as a major means of bringing us a better knowledge of the facial embryogenesis in man.

[Prenatal diagnosis of nuchal edemas and cystic hygromas of the neck. 49 cases]. / Diagnostic prénatal des oedèmes de la nuque et des hygromas kystiques du cou. A propos de 49 cas.

OBJECTIVES: Determine the pathogenesis of fetal nuchal oedema and cystic hygromas of the neck and establish prenatal prognosis factors. METHODS: Retrospective study of 49 cases including 35 early diagnoses (10 to 14 weeks gestation) and 14 late diagnosis (after 15 weeks). Chorial villosity biopsy was performed for fetal karyotype. RESULTS: The global rate of genetic or chromosomic abnormalities in the fetuses was 47%. The fetuses with nuchal associated with other echographic anomalies had a high risk of chromosomic aberrations (80%). Fetuses with nuchal oedema alone during the first trimester had a higher risk of trisomy 21 proportionally with the age of the mother and paradoxically no trisomy 21 was found in women under 30 years of age. When early nuchal oedema regressed spontaneously in an euploid fetus, echographic surveillance can be proposed to detect possible polymalformation syndromes discovered late. Cystic hygromas of the neck were diagnosed from 15 weeks gestation and were always pathologic. CONCLUSION: Interpreting nuchal images in the fetus must take into account the echographic term at discovery and its isolated or associated nature. Further studies are needed to determine indications for chorial villosity biopsy in mothers under 30 with a fetus with isolated nuchal oedema which regresses spontaneously during the first trimester.

The effects of nitric oxide inhibition on regional hemodynamics during hyperdynamic endotoxemia.

OBJECTIVE: To determine the effect of the inhibition of nitric oxide (NO) on selective organ blood flow in endotoxin-induced sepsis. DESIGN: Nonrandomized, controlled experiment. SETTING: Animal research facility in Brooklyn, NY. PARTICIPANTS: Eleven mongrel dogs. INTERVENTION: Eleven dogs were divided into one of two groups: a control group (n = 5) and an endotoxin-treated group (n = 6). The animals were anesthetized, and electromagnetic and ultrasonic flow probes were placed on the distal aorta, right internal carotid artery, superior mesenteric artery, and left renal artery. Sepsis was induced with a 60-mg/kg intravenous injection of Escherichia coli endotoxin. When the arterial blood pressure decreased to less than 60 mm Hg despite adequate fluid resuscitation, NO synthesis was inhibited with a 25-mg/kg intravenous administration of NG-monomethyl-L-arginine. After 15 minutes of inhibition, a 400-mg/kg intravenous administration of L-arginine, the substrate of NO synthase enzyme, was given. Physiologic measurements were continued for 15 minutes thereafter. MAIN OUTCOME MEASURES: Heart rate, blood pressure, central venous pressure, pulmonary artery pressure, pulmonary capillary wedge pressure, cardiac output, hematocrit, arterial and venous blood gas values, and blood flow measurements of right internal carotid artery, superior mesenteric artery, left renal artery, and distal aorta. RESULTS: Control animals did not demonstrate a significant (P > .05) decrease in blood flow in the internal carotid artery, superior mesenteric artery, and distal aorta after the administration of NG-monomethyl-L-arginine. The endotoxin-treated group showed a significant (P < .05) decrease in organ perfusion when treated with the NO synthase inhibitor, NG-monomethyl-L-arginine. CONCLUSIONS: Inhibition of NO production in the treatment of sepsis caused a significant decrease in blood flow to all vascular beds in vivo. The role, if any, of the inhibition of NO in the treatment of sepsis is questioned.