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Purpose: Cell-free DNA (cfDNA) as a primary screening test has been available for years but few studies have addressed this option in a prospective manner. The question is of interest after reports that maternal serum screening (MSS) is less accurate for pregnancies resulting from assisted reproduction technologies (ART) than for spontaneous pregnancies (SP)., Methods: A prospective interventional study was designed to address the performances of cfDNA compared with MSS in pregnancies with or without ART. Each patient was offered both MSS and cfDNA testing. The primary analysis cohort ultimately included 794 patients with a spontaneous pregnancy (SP) (n = 472) or pregnancy obtained after ART (n = 322)., Results: Overall, the false-positive rate and positive predictive value were 6.6% and 8.8% for MSS but 0% and 100% for cfDNA. MSS false-positive rate and positive predictive values were clearly poorer in the ART group (11.7% and 2.6%) than in the SP group (3.2% and 21.1%). The global rates of invasive procedures were 1.9% (15/794) with cfDNA but 8.4% (65/794) if MSS alone was proposed., Conclusion: cfDNA achieved better performance than MSS in both spontaneous and ART pregnancies, thus decreasing the number of invasive procedures. Our findings suggest that cfDNA should be considered for primary screening, especially in pregnancies obtained after ART.

Objective: The aim of this study is to analyze the contribution of biochemistry and cytology of fetal ascites fluid to the etiological diagnosis of ascites after ultrasonographic scan, maternal blood sampling, and fetal karyotyping., Method: This is a retrospective study of 100 consecutive cases of nonimmune fetal ascites in which ascites fluid was sampled. All women underwent referral ultrasound scan and fetal karyotyping. All cases of fetal ascites were studied by biochemistry (total protein, β2 -microglobulin, IgM, gamma-glutamyl transpeptidase, aspartate aminotransferase, aminopeptidase M, and intestinal isoform of alkaline phosphatase) and cytology (lymphocyte count and vacuolated cells)., Results: The etiology of ascites was diagnosed at ultrasound scan in only 50% of cases. We observed significantly (P < 0.001) low levels of total protein in ascites of urinary origin, high levels of digestive enzymes in ascites of digestive origin, and high β2 -microglobulin in infectious ascites. Vacuolated cells were observed in all ten storage metabolic diseases., Conclusion: Sampling of fetal ascites fluid for biochemical and cytological examination provides important additional information. We propose a two-step management: (1) detailed ultrasound scan examination, maternal blood analysis, and fetal karyotyping and (2) biochemical and cytological analyses. On the basis of such an approach, 63% and 96% of etiologies would have been identified in our series after the first and second steps, respectively. © 2014 John Wiley & Sons, Ltd., (© 2014 John Wiley & Sons, Ltd.)

Father's age increase miscarriage, malformation, risk of autism, schizophrenia, and bipolar troubles in children., (Copyright 2010 Elsevier Masson SAS. All rights reserved.)

Nuchal translucency measurement is a very powerful screening test to detect chromosomal anomalies or other malformations. The technique for measurement is based on strict guidelines that will be described in this paper. Training is mandatory. Risk calculation for chromosomal anomalies (trisomy 21) must also consider maternal age and gestational age. In France, in 1999 the predictive positive value of nuchal translucency for chromosomal anomalies was about 1/7. Other ultrasound markers such as the absence of nasal bone combined with nuchal translucency increase detection. A higher performance will be achieved when ultrasound will be combined with first-trimester maternal serum markers.

The aim of this retrospective study is to compare the results of embryo transfer in IVF without or after cervical dilatation, and trans-myometrial trans-vaginal transfer and after ultrasound-guided transfer. From 1989 to 1996 we have performed 4,355 embryo transfers to obtain 1,115 pregnancies. The results were 25.6% pregnancy by transfer and 10.9 embryos to start a pregnancy. During this time 281 transfers were appreciated as difficult or impossible and a cervical dilatation was done. We obtain 17.4% pregnancies by transfer with 16.5 embryos per pregnancy. We also practiced for the same indication 50 transmyometrial-transvaginal transfers. The result was 18% pregnancy by transfer and 16 embryos to start a pregnancy. In 1997 we have stopped cervical dilatations to prefer in these indications ultrasound-guided embryo transfer. 74 transfer were performed with this method to obtain 28.4% pregnancies per transfer and 9.9 embryos to start one pregnancy. This results are compared to a subgroup of women 38 years old or less, with a normal partner's sperm and in witch two embryos or more were transferred. At the end we think that the use of ultrasonography for embryo transfer is benefit in IVF program.

From a personal observation of a male fetus oro-genital contact we made a preliminary multicentric study which shows some rare similar cases. Others oral or manual behaviours, containing perhaps some sexual significance are frequently observed but not yet published.

Biological diagnosis of toxoplasmosis is generally based on indirect arguments (serology). In cases of immaturity or of immune depression, however, evidence of the parasite has to be obtained. This involves time-consuming or relatively insensitive culture techniques. Molecular biology, and more particularly the polymerase chain reaction gene amplification technique, makes it possible to identify an extremely small quantity of parasites in a complex biological fluid in a few hours. We summarized our experience with an original technique using toxoplasma ribosomal DNA as the target. Its use in the amniotic fluid provides a distinct improvement in antenatal diagnosis and is fast becoming the technique of reference. Difficult cases have been solved by its application in ophthalmology. Finally, in immunodepressed patients, especially in cases of acquired immunodeficiency syndrome, assessment is currently ongoing. The results obtained so far, especially in the analysis of the cerebral spinal fluid, are encouraging.

The effect of growth hormone (GH) treatment on prepubertal gonads is controversial especially with regard to the risk of precocious puberty. Ultrasound assessment of ovarian volume, follicle size, and uterine growth was performed in 20 premenarcheal girls (8.0 +/- 2.6 years) receiving growth hormone (GH) for short stature (-2.8 +/- 0.4 SD) not related to growth hormone deficiency or Turner syndrome. Mean GH dosage was 1.0 +/- 0.4 IU/kg/week and mean duration of treatment at evaluation was 16.3 +/- 8.9 months. All patients underwent real time ultrasonography of the pelvic organs and ten subjects also had color Doppler studies of the ovarian and uterine arteries. Ultrasound findings were similar to those reported in normal prepubertal girls. Mean uterine length (29.1 +/- 7.5 mm) and volume (1.23 +/- 0.86 ml) were correlated with age but not with dosage or duration of GH treatment. Ovarian volumes was within the normal age-specific range in all patients except a 7.9 year old girl with substantially enlarged ovaries (4.7 ml) but no evidence or precocious puberty. Ovarian follicles were found in five girls; they measured less than 9 mm in diameter in every case except one (13 mm follicle in an 11-year-old). Blood flow in the ovarian arteries was seen on 5 of the 10 color Doppler studies and was not correlated with dosage or duration of GH treatment. Administration of GH to non-GH-deficient girls did not substantially affect the internal genital organs. It remains uncertain whether the single case of ovarian enlargement seen was related to GH treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

A polymerase chain reaction (PCR) assay has been developed for the detection of Toxoplasma gondii. The target sequence (88 bp) is part of a rDNA repetitive gene. A signal can be observed with only one parasite. It is directly and rapidly detected by electrophoresis and ethidium bromide staining. We report a prospective study of 80 documented cases of toxoplasmic seroconversions during pregnancy. The PCR assay of the amniotic fluids was compared with the current standard methods for diagnosis of fetal infection. Seventy specimens gave no PCR signal, and were negative according to prenatal tests and postnatal examinations. The presence of T. gondii was detected in ten specimens by PCR analysis. Four were confirmed by isolation of the parasite from the amniotic fluid; four by biological study of the fetal blood. For the remaining two, infection was diagnosed after birth. Together with ultrasonographic and biological data, this technique permits prenatal diagnosis within 1 day.

In a prospective randomized open study, 111 young children with otitis media were orally treated during 10 days with Pediazole (50 mg/kg/day in 3 divided doses) or amoxicillin + clavulanic acid (40 mg/kg/day in 3 or 4 divided doses) for efficacy and safety evaluation. 51 children wer assigned to amoxicillin + clavulanic acid (group I) and 60 to erythromycin-sulfisoxazole (group II). Mean age was respectively 24.7 months in group I and 23.4 months in group II. Results of efficacy evaluation were as follows: (table; see text) there was no statistically significant difference between the two treatment groups for efficacy. Overall safety was good. The treatment was discontinued only in four cases (3 in the amoxicillin + clavulanic acid group and 1 in the EES-sulfisoxazole group). In conclusion, Erythromycin sulfisoxazole combination (Pediazole) fits in with current epidemiological profile of Acute Otitis Media and represents a therapy of choice in this indication.

Gallbladder lithiasis is an unusual fetal disease. The authors report three cases diagnosed using ultrasound during prenatal period. They then try to define the semiology, evolution and prognosis of this disease and to determine what best to do when faced with this situation.

We are investigating the most practical parameters i.e. reliable and with a rapid response, which allow the time of insemination to be determined in women undergoing stimulation because of anovulation. We have already shown the advantage of rapid radio-immunological determinations of 17 beta-oestradiol (E2) to induce the releasing action of chorionic gonadotrophic hormone (hCG). We have carried out our investigations directed towards the rapid-immunological determination of luteotrophic hormone (LH), and have recorded a good temporal correlation between E2 and LH, the rise of E2 preceding by some hours that of LH, and the two summits succeeding each other. Inseminations are followed by fertilization in women who present with the following: a mean oestradiolaemia of about 500 pg/ml in the second part of the follicular phase, maintained after interruption of HMG administration (alone or after clomiphene citrate), which decreases only slowly after administration of hCG; a level of LH increasing from 9-14 ng/ml (mean) in the last two days preceding the summit of LH; the level of LH multiplied at least by 2 after the administration of hCG, whatever the mode of stimulation. Clomiphene citrate, not provoking a constant ovulatory discharge, does not dispense with the administration of hCG in the majority of cases. These considerations result from the study of a group of 22 anovulatory women, in whom stimulation followed by determination of E2 and LH, under echographic control, have allowed 12 pregnancies to be obtained (7 by clomiphene citrate + HMG + hCG; 5 by HMG + hCG), decreasing the mean number of inseminated cycles to 3 per woman thus studied.

The case of a 4 year-old girl with ectopic spleen is reported. The diagnostic values of ultrasonography and scintigraphy are emphasized.

Ultrasonography investigations of retroperitoneal tumors in children were conducted in 25 cases: 11 nephroblastomas, 11 neuroblastomas, 2 ganglioneuromas, and 1 rhabdomyosarcoma. Ultrasonographic exploration of such tumors should include analysis of the mass: echostructure, limits, interfaces and dimensions, and analysis of its extension. The latter should determine the position in relation to the median line, the condition of the large vessels (inferior vena cava and aorta), the homolateral renal cavities and the contralateral kidney, and the presence or absence of glandular spread and hepatic metastases. The semiology of each of these elements is described and discussed, to determine their individual diagnostic value.

We studied the pupillary cardiovascular and gastrointestinal effects of two parasympathetic blocker mydriatics. Thirty-four neonates were randomly assigned into 3 groups: A: Atropine sulfate 0.3%, B: Tropicamide 0.5%, C: placebo. Mydriasis was obtained in groups A and B (p less than 0.001). No hypertension was observed and only an increase in heart rate with atropine was significant (p less than 0.001). Gastrointestinal side-effects studied in 25 children revealed a disturbance in groups A and B as compared to placebo (p less than 0.01). Tropicamide is therefore a more useful drug in low birth weight infants due to the absence of cardiovascular and hypertensive side-effects. Those infants with gastrointestinal disease should be treated with caution due to the side-effects which may be encountered.

Six cases of recessive hepatorenal polycystic disease in infants and young children were explored by intravenous urography and ultrasonography. Sufficient specific ultrasonography findings for making a diagnosis were obtained. The kidneys are large and produce strong echos, with inversion of the normal strength of medullary when compared to cortical echos, and poor definition of the renal sinus. Strong echos are also obtained from the liver, especially in the juvenile forms, because of the large amount of fibrosis. Large intrahepatic biliary ectasias were discovered in a 3-year-old child.