Prenatal echographical findings of a partial sirenomelic fetus are described. An attempt was made to terminate pregnancy by administration of prostaglandin F2 alpha, but uterine rupture occurred. The teratogenic role of vitamin A ingested by the mother in the periconceptional period is discussed.

Abnormalities, Drug-Induced↗

PubMedDate not supplied

Prenatal diagnosis and fetal pathology of partial trisomy 20P-monosomy 4P resulting from paternal translocation.

Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 20p and monosomy 4p. In addition, the amniotic fluid alpha-fetoprotein (AFP) became increasingly elevated with gestational age. The pregnancy was terminated at 25 weeks. The fetus presented with typical facial dysmorphic features, unilateral cleft lip and palate, severe renal hypoplasia, consistent with the 4p-(Wolf-Hirschhorn) syndrome.

Abnormalities, Multiple↗

PubMedDate not supplied

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.

Animals↗

PubMedDate not supplied

Cordocentesis for rapid karyotype: 421 consecutive cases.

Between October 1985 and December 1993, 421 patients underwent fetal blood sampling for rapid karyotyping (426 samplings, 5 twin pregnancies). The aim of the study was to evaluate cordocentesis in terms of results, complications and additional information in this specific indication especially in case of abnormal pregnancy sonogram. The fetal loss rate possibly related to fetal blood sampling was 1.9%. Abnormal sonograms represented 91% of rapid karyotype indications. Chromosomal abnormalities were found in 9.5% of abnormal sonograms and in 16.9% of fetal structural anomalies (37 cases). The commonest chromosomal abnormality was trisomy 21 (11 cases). In conclusion, cordocentesis is a safe and reliable method for rapid karyotyping although it is associated with more risks than in other indications (congenital infections). The high rate of chromosomal abnormalities pleaded for ultrasonographic screening in a population usually not investigated by cytogenetic studies.

Adolescent↗

PubMedDate not supplied

The detection and follow-up of fetal diseases: contributions of ultrasound.

This work illustrates the major contributions of ultrasound to the monitoring of the human fetus and to our understanding of its normal and abnormal development. Examples of in-utero diagnosis of uropathies, ovarian cysts, hemorrhage or biliary sludge with post natal follow-up help to understand the occurrence and disappearance of several "pathological" entities. More experience is needed and improvements should occur in the sonographic detection of intra uterine growth retardation and in uncomplicated genetic anomalies.

Female↗

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[Value of examining the placenta in pregnancies complicated by fetal malformations].

This investigation was undertaken to determine whether examination of the placenta contributed to a better understanding of the causes of fetal malformations. Specific histological abnormalities were found in triploidy and lysosomal storage disorders. Placentas from trisomies only showed a marked a specific retardation of villous maturation. The most frequent placental abnormalities detailed in cases presenting major fetal malformations with normal karyotype were: velamentous insertion of the umbilical cord, placental hypotrophy, single umbilical artery, marginal retroplacental hematoma and generalized perivillous fibrin deposition. Examination of the placenta after fetal malformation can provide helpful informations in counseling the parents and the perinatal team in the follow-up of any future child bearing.

Congenital Abnormalities↗

PubMedDate not supplied