M E D I C U S - Shoqata e Mjekëve Shqiptarë të Maqedonisë-Hipokrati

Figure 4. Trisomy 18, ultrasonography of the central nervous system at the age of 3 days
showing 2 nd degree intracranial hemorrhage with periventricular leucomalation, a
chorioid plexus cyst and dilated posterior cranial fossa at the level of cistern magna.
DISCUSSION
The reported prevalence of trisomy 18 varies greatly and reflects the way in
which data are collected (2, 6). The postnatal survival depends on the level and intensity
of care provided with prolonged median survival times when intensive care measures and
intensive cardiac management (pharmacological intervention for ductal patency and
palliative or corrective surgery for congenital heart defects) is applied (4. 10, 11). These
data of improved survival, through neonatal intensive treatment, are helpful for clinicians
to offer the best information on treatment options to families of patients with trisomy 18
(4). In our two cases different strategies are applied. In Case 1, after the initial
stabilization, the parents were advised on the possibility for cardiac surgery intervention,
but the parents opted to withhold from operation, therefore conservative care was
provided until death. In Case 2, although intensive care measures were provided, longer
survival was compromised due to the complexity of the cardiopathy and the severity of
the condition. These two cases have similar family history, being first children from
wanted and followed up pregnancies in families of young parents with no apparent
pregnancy complications. In the first trimester, two serum markers can be tested for
prenatal screening of aneuploidies: pregnancy-associated plasma protein-A, a large
glycoprotein tetramer, and free beta-human chorionic gonadotropin (beta-hCG), 1 of the
2 subunits of the glycoprotein hormone Hcg (12, 13, 14). The multiple marker
combination in the second trimester with the highest screening performance is alphafetoprotein
(AFP), unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and
inhibin A, together with maternal age (so-called quad marker test) (15). It is found that
first trimester screening protocols for Down syndrome (nuchal translucency combined
with biochemical markers) can detect the majority of non-Down syndrome aneuploidies,
with a detection rate of 78% with even a higher rate of detection when second trimester
markers are applied (13). However, in both our cases prenatal diagnosis (first or second
trimester biochemical screening and/or amniocentesis) was not offered to the parents due
to the young maternal age. Fetal echocardiography can reliably detect congenital heart
disease as early as 12 weeks gestation, at the time of of nuchal translucency measurement