
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
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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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