M E D I C U S - Shoqata e Mjekëve Shqiptarë të Maqedonisë-Hipokrati
M E D I C U S - Shoqata e Mjekëve Shqiptarë të Maqedonisë-Hipokrati 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
(7, 9). Congenital heart disease is found in up to 95% of patients with trisomy 18 (2, 9). Although ultrasonography is broadly applied during pregnancy, the percentage of detection of congenital cardiopathies is still low in our country. In a recent domestic epidemiologic study performed none of the 44 prospectively followed up cases of congenital cardiopathies was prenataly suspected so have a congenital heart defect (16). If a reverse approach is applied, whenever a congenital cardiopathy is diagnosed on fetal ultrasonography, chromosomal anomaly has to be excluded by amniocentesis due to the high proportion of associated findings (17). Both cases in the present study had common trisomy 18 with a kariotype 47, XY+18 in the first case and 47, XX+18 in case 2. Nevertheless, clinical features in both cases varied significantly. Some of the common features in both cases were: growth restriction, congenital heart defect, low-set ears, short neck, and retrognatia. The cases presented here represent a reminder for the clinician in terms of appropriate prenatal diagnosis and genetic counseling. Increased awareness of this condition is also necessary in the early neonatal period, due to its variable clinical expression and serious course and outcome. CONCLUSION Fetal ultrasonography screening should be able to identify most cases of trisomy 18 with detectable congenital heart defects and prompt further diagnostic workup (amniocentesis and kariotype) even in a non-risk population (mother
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(7, 9). Congenital heart disease is found in up to 95% of patients with trisomy 18 (2, 9).<br />
Although ultrasonography is broadly applied during pregnancy, the percentage of<br />
detection of congenital cardiopathies is still low in our country. In a recent domestic<br />
epidemiologic study performed none of the 44 prospectively followed up cases of<br />
congenital cardiopathies was prenataly suspected so have a congenital heart defect (16).<br />
If a reverse approach is applied, whenever a congenital cardiopathy is diagnosed on fetal<br />
ultrasonography, chromosomal anomaly has to be excluded by amniocentesis due to the<br />
high proportion of associated findings (17). Both cases in the present study had common<br />
trisomy 18 with a kariotype 47, XY+18 in the first case and 47, XX+18 in case 2.<br />
Nevertheless, clinical features in both cases varied significantly. Some of the common<br />
features in both cases were: growth restriction, congenital heart defect, low-set ears, short<br />
neck, and retrognatia. The cases presented here represent a reminder for the clinician in<br />
terms of appropriate prenatal diagnosis and genetic counseling. Increased awareness of<br />
this condition is also necessary in the early neonatal period, due to its variable clinical<br />
expression and serious course and outcome.<br />
CONCLUSION<br />
Fetal ultrasonography screening should be able to identify most cases of trisomy<br />
18 with detectable congenital heart defects and prompt further diagnostic workup<br />
(amniocentesis and kariotype) even in a non-risk population (mother
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