APPLICATION OF PRENATAL TESTING FOR CYTOMEGALOVIRUS. AN ILLUSTRATIVE CASE REPORT
Yapijakis C1,2, Serefoglou Z1, Sakellariou M1, Karahalios S3, Koufaliotis N3
*Corresponding Author: Christos Yapijakis, DMD, MS, PhD, Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sofias, Athens 11528, Greece; Tel: +30-210-8811 243; Fax: +30-210-7289 125; E-mail: cyapijakis_ua_gr@yahoo.com
page: 67

DISCUSSION

Fetal CMV infection is a common and serious prob­lem, since about two-thirds of European women are car­riers of this virus. The best prevention strategy includes immunological testing for serum anti-CMV IgG and IgM of every pregnant woman at repeated intervals during pregnancy [12,14]. Prenatal testing by amniocentesis and PCR detection of CMV DNA should not be performed without a serious reason, since amniocentesis itself consti­tutes a 1.5-2% risk of fetal loss. Only if both maternal IgG and IgM are positive is there indication for prenatal test­ing. Even then, the risk of viral infection for the fetus is less than 50% [13,21]. In case of a positive molecular detection of CMV in the amniotic fluid sample, the fetus has 15-20% risk of developing a serious congenital cyto­megalic inclusion disease [14-16]. Therefore, genetic counseling must be offered in all cases, with discussion of all possibilities in addition to psychological support, since prenatal testing is a very stressful procedure for the preg­nant woman and her partner.

We present here a case that illustrates the importance of performing prenatal testing for CMV in an environment of an experienced genetic center, since correct interpre­tation of laboratory findings and genetic counseling are necessary for prevention of such a serious fetal infection [16]. In our case, the results of the repeated immunological assays and the molecular testing for viral DNA, revealed that the presence of CMV in the amniotic fluid sample was due to contamination from mother’s blood during amnio­centesis. Our appropriate interpretation of all available data led to continuation of pregnancy and the birth of a healthy baby.


Maternal cell contamination is a serious potential source of misinterpretation of prenatal testing results [22]. In order to avoid such problems of prenatal misdiagnosis, we have developed a rapid and low-cost molecular meth­odology for identification of possible maternal contamina­tion [22]. We could not use that methodology in our case because the actual prenatal testing was performed by others, who did not make the amniotic DNA sample avail­able to us.

We believe that our overall contribution to the pre­sented family was positive because: a) the accurate diag­nosis for an environmentally induced syndrome in the first child made possible the second pregnancy, and b) the accurate interpretation of molecular and immunological test results during the second pregnancy, led to the birth of a healthy child.




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