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In the two continuing pregnancies with
mosaicism the parents decided against amniocentesis. In
one a postnatal karyotype proved normal and the other
was a true case of 45X. Similar to our findings, Monney
et al. report rates of 84.5% and 13.5% for 45X and
mosaic karyotype, respectively, in their prenatal series8.
In contrast, in postnatal series, Gotzsche et al. reported
58% 45X karyotypes, 35% mosaics and 7% of structural
abnormalities and Douchin et al. reported 50% 45X
and 50% mosaics or structural abnormalities2,21. This
Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2003;
22: 264–267.
Fetal Turner’s syndrome 267
suggests that most of the children with mosaicism or
more minor X anomalies, who comprise about half the
postnatal series, may appear normal at the ultrasound
examination in intrauterine life and also that intrauterine
lethality for 45X karyotype is higher than in mosaics.
Gravholt et al. observed in their series of 100 fetuses that
the probability of a mosaic karyotype fetus to reach term
was significantly higher than a 45X fetus surviving12. In
our series, none of the six fetuses with a 45X karyotype,
where there was expectant management, survived to
term, although there was a wide range in the timing of
spontaneous loss (16–33 weeks). Conversely, two mosaic