Fetal and early neonatal left and right ventricular cardiac geometry and left ventricular cardiac function were studied b y 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 cardic 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 a n d a further 1.2-1.3-fold rise in left ventricular stroke volume and cardiac output.

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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 (1 6.7 per cent) ended in a spontaneous abortion. These findings suggest an association between placental mosaicism and fetal loss. KI:Y WORDS Prenatal diagnosis Chorionic villus biopsy Discrepancy Mosaicism Fetal loss

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.

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.

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Summary: Present combined two-dimensional real-time and M-mode echocardiograph systems allow detailed analysis of fetal cardiac structure and function. Standard scanning planes for systematic investigation of various cardiac structures are described. There is a curvilinear increase in left ventricular volume (Qlv), stroke volume (Qlvs), and output Q'lv) during the last trimester of pregnancy with a mean Q'lv value at term of 126± 11 mI/kg/min. Scanning for cardiac defects should preferably be done between 18 and 24 weeks of gestation. In a total of 444 patients referred to our ultrasound unit for ultrasonic analysis of fetal cardiac structure, a total of 13 cardiac defects were diagnosed. The incidence of structural cardiac defects present among those with fetal dysrllythmia was 15%.

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