Frédéric Rodesch

Prenatal diagnosis of 52 pregnancies at risk for congenital cytomegalovirus infection

Objective: To determine the feasibility of prenatal diagnosis of fetal cytomegalovirus (CMV) infection. Methods: Fifty‐two pregnant women were investigated in our unit between October 1985 and July 1992. The diagnostic procedures included ultrasound examination, amniocentesis, and fetal blood sampling. Specific tests for CMV infection included specific immunoglobulin (Ig) M antibodies, viral culture, and amplification of CMV DNA by polymerase chain reaction. Nonspecific tests included white blood cell count, hemoglobin, hematocrit, platelets, and gamma‐glutamyl transferase determination. Results: The combination of tests allowed an antenatal diagnosis of CMV in 13 of the 16 infected fetuses (sensitivity 81%). Amniocentesis allowed the diagnosis in 12 of the 13 antenatally diagnosed cases. The sensitivity of CMV IgM antibody detection in fetal blood was 69%. The culture of fetal blood was never positive. Thrombocytopenia was present in six cases, and ultrasound was abnormal in five. Conclusions: Amniotic fluid is the best sample to diagnose CMV infection, and fetal blood sampling and sonography are important to assess the fetal condition. Our experience underscores the importance of repetitive sampling. (Obstet Gynecol 1993;82:481‐6)

Estimation of gestational age from measurements of fetal long bones

The general practice of using fetal long bone growth charts to derive gestational age does not yield mathematically valid results. The authors tried to calculate gestational age from the lengths of long bones (femur, humerus, tibia, ulna) from 12 to 40 weeks of gestation. The combined use of the four bones allows a good estimation of gestational age that may be useful should the biparietal diameter measurement be unreliable, unobtainable, or abnormal.

Congenital malformations in 10,000 consecutive births in a university hospital: Need for genetic counseling and prenatal diagnosis

Ten thousand children born consecutively in a university hospital were surveyed for the presence of major congenital malformations. About 2% (174) had a major congenital defect. Seventy-eight percent (135 of 174) of these malformations are associated with increased recurrence risk (greater than 1%), and 9% carry a high recurrence risk (greater than or equal to 10%). On the basis of the recurrence risk of 1% or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 45% (79 of 174) of the mothers, especially inasmuch as 40% were primiparae younger than 36 years.

Congenital Bilateral Perisylvian Syndrome in a Monozygotic Twin with Intra‐uterine Death ot the Co‐twin

Congenital bilateral perisylvian syndrome was diagnosed in a two‐year‐old boy with signs of pseudobulbar and diplegic cerebral palsy presenting on MRI a polymicrogyric appearance of the perisylvian regions. He was bom from a monochorionic bi‐amniotic twin pregnancy complicated by twin‐twin transfusion syndrome and death of the co‐twin between the 16th and 18th weeks of gestation. Ventricular enlargement and hepatic hyperechogenic lesions were seen during his sonographic intra‐uterine follow‐up. The authors suggest that ischaemic injury occurred in this patient as a consequence of acute haemodynamic changes induced by the death of his co‐twin.

Electron microscopy of isolated sheep thyroid cells

Abstract Trypsinized sheep thyroid gland cells have been studied by means of electron microscopy. The trypsinization procedure induced no major change on the nuclear and the cytoplasmic constitutents. The follicular organization was disrupted: no closed intrafollicular compartment was observed and the intrafollicular colloid was lost. The metabolic implications of these findings have been discussed. Some intracellular microfollicular spaces were observed. Two different populations of cells were visible: completely isolated or “dissociated cells” and “associated cells”. The dissociated cells had lost their structural polarity and junctional complexes, while the associated cells retained these characteristics. The functional implications of the heterogeneity of the cellular population are discussed in relation to the metabolism of dissociated thyroid cells.

Metabolic properties of isolated sheep thyroid cells

Abstract Discrepancies between the metabolic properties of isolated thyroid cells prepared in various laboratories have been ascribed to differences in the technique of preparation and incubation of these cells. Among the media used for the incubation of the cells, Earles salt solution gave the best results. Isolated thyroid cells take up iodide and bind this iodide to the tyrosines of proteins and, in the absence of albumin, to lipids; they synthesize thyroxine and triiodothyronine; their mitochondria exhibit a satisfactory respiratory control. The latter property provides a most sensitive index of the integrity of the cells.

Compartmentalization and movement of calcium in the thyroid

The present work suggests that in dog thyroid tissue Ca2+ is distributed at least in two compartments (A) and (B). Compartment (A) could be the extracellular space, and extracellular binding sites for Ca2+. The uptake of Ca2+ in this compartment is increased and the release is decreased at 0 degrees C. The release is not influenced by the ionophore A23187 or by metabolic inhibitors (NaF, iodoacetate, dinitrophenol) or by thyrotropin (TSH). Compartment (B) is defined functionally as a slowly exchangeable store of Ca2+. Uptake and release from this compartment are temperature dependent. The release is accelerated by A23187 and by antimycin A, this suggests an intracellular, presumably mitochondrial, location. TSH stimulates the efflux of Ca2+ originating from the cellular compartment (B). Our data are compatible with the hypothesis that, as in other tissues, the translocations of stored intracellular calcium may be a crucial step in the activation of the thyroid cell.

Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis.

The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemia. Two in utero transfusions for correction of the anaemia were performed at 28 and 29 weeks, respectively. The baby rapidly presented respiratory distress with mixed acidosis. Three hours after birth, pink urine was excreted. Signs of icterus necessitated phototherapy, after which photosensitivity occurred. Erythrocytes were fluorescent under long-wavelength UV light. The baby died 24 hours after birth, displaying severe acidosis, a diffuse haemorrhagic syndrome, and repeated brady-cardia which did not respond to isoprenaline. The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and faeces, with traces in erythrocytes and plasma; 2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces; 3) coproporphyrin I was increased in urine, erythrocytes, plasma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in urine and plasma were within the reference ranges. Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed that both parents possessed only 50% of the normal activity of cosynthase. A previously described point mutation in codon 73 was observed in one parent. Fatal cases of neonatal Günthers disease are extremely rare and such an observation, according to our knowledge, is probably one of the first described.

Phagocytosis of latex beads by isolated thyroid cells

Abstract Isolated horse thyroid cells take up latex particles in vitro as shown by the UV absorption curve of their dioxane extracts and by the electron micrographs of the cells. This process is temperature dependent. Electron micrographs demonstrate particles engulfment by pseudopods at the apex of the follicular cells and the appearance of particles in phagosome-like structures. This technique provides a convenient system for a direct investigation of phagocytosis in the thyroid follicular cell.

Multifetal pregnancy reduction : comparison of obstetrical results with spontaneous twin gestations

Thirty-two multifetal pregnancies were reduced to twin gestations. Our control group was composed of 32 spontaneous twin gestations. The comparison of these two groups did not show that the procedure altered obstetrical results as far as duration of gestation, birth weight and rate of dismaturity are concerned.