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Biomedical subjects

R Vosters

Publications and source records attributed to R Vosters.

6 recordsLinked to original sources

Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX,+18/70,XXX,+18 mosaic. A remarkable diploid-triploid discrepancy after CVS.

A 70,XXX,+18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.

Adult↗

Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS.

In 2103 consecutive diagnostic chorionic villus samples, examined in a 4-year period in our clinical genetics unit, 26 samples (1.2 per cent) presented chromosomal mosaicism in the direct and/or long-term culture preparations. Only once (46,XX/47,XX,+9) was the mosaicism confirmed in the fetus. In the cytogenetic follow-up studies of the remaining 25 pregnancies, in no cases could the aberration be confirmed in amniotic fluid or fetal tissue. One patient requested a termination after the CVS result. Of the remaining 24 pregnancies, four (16.7 per cent) ended in a spontaneous abortion. These findings suggest an association between placental mosaicism and fetal loss.

Abortion, Spontaneous↗

M-mode ultrasound recording of perinatal geometry and dynamics of the cardiac interventricular septum.

Fetal and early neonatal cardiac interventricular septal geometry and dynamics were studied by the M-mode ultrasound technique in a cross-sectional study between 28 and 40 wk of gestation (n = 193) and a longitudinal antenatal-early neonatal study up until 48 h following delivery (n = 15). Antenatally the interventricular septal diameter shows a linear increase of about 30%. There is no measurable change in septal diameter during systole, suggesting no-involvement in the process of ventricular contraction. In over 50% of the fetuses no measureable septal motion during systole was observed. Paradoxical septal movement only occurred in about 10% of the cases studied. Postnatally there is a further increase in septal thickness of 46% during the end-systolic phase without any significant change during the end-diastolic phase of the cardiac cycle, indicating active involvement of the septum in ventricular contractility. The septal motion pattern is nearly always non-paradoxical.

Cross-Sectional Studies↗

Normal cardiac ventricular geometry and function during the last trimester of pregnancy and early neonatal period.

Fetal and early neonatal left and right ventricular cardiac geometry and left ventricular cardiac function were studied by M-mode technique in a cross-sectional study between 28 and 40 weeks of gestation (n = 227) and a longitudinal study from 24 h before until 48 h after delivery (n = 15). Antenatally both ventricles were geometrically uniform; there was a 3.2-3.4-fold increase in left ventricular volume and a nearly 3-fold increase in left ventricular stroke volume and cardiac output. During the early neonatal period the right ventricular transverse diameter reduced in size; there was a further 1.1-fold rise in left ventricular volume and a further 1.2-1.3-fold rise in the left ventricular stroke volume and cardiac output.

Cardiac Output↗

Fetal echocardiography; basic and clinical considerations.

Present 2-D real-time and M-mode systems allow detailed studies of fetal left and right ventricular cardiac geometry and function. Antenatally, both ventricles are geometrically uniform. There is a curvilinear increase in left ventricular volume (Q1v), stroke volume (Q1v,s) and output (Q'1v) during the last trimester of pregnancy. At term a mean Q'1v of 126 +/- 11 ml kg-1 min-1 was found. Structural analysis of the fetal heart has resulted in the diagnosis of fetal congenital heart disease and cardiac dysrhythmias. Possibilities of antenatal medical treatment of fetal cardiac dysfunction are currently under investigation.

Echocardiography↗