NON-INVASIVE SCREENING TEST PARADOX IN A CASE BORN WITH MIXED GONADAL DYSGENESIS (45,X/46,XY)
Cobanogullari H., Akcan N., Ergoren M.C.
*Corresponding Author: Assoc. Prof. M.C. Ergoren, PhD, Near East University, Faculty of Medicine, Department
of Medical Genetics, 99138 Nicosia, Cyprus. E-mail address: mahmutcerkez.ergoren@neu.edu.tr
page: 57
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Abstract
Noninvasive prenatal testing (NIPT) is commonly used
to screen for fetal trisomy 13, 18, and 21 and often for sex
chromosomal aneuploidies (SCAs). Although the testing
is also used for sex chromosomal aneuploidies, it is not as
efficient as it is for common trisomies. In this particular
study, we present a case for whom the NIPT diagnosis was
originally 45,X and who was diagnosed with mixed gonadal
dysgenesis 45,X /46,XY after birth. A 38-year-old [G3P3]
pregnant woman underwent NIPT at 15 weeks’ gestation and
was found to be at probable risk for 45,X. Because cordocentesis
is an invasive procedure, the pregnant woman did
not want to undergo cordocentesis. Consequently, postnatal
cytogenetic analysis was performed and the baby’s karyotype
was shown to be 45,X/46,X,+mar?. No numerical and/
or structural anomalies were observed in the karyotypes of
parents and siblings. Based on the microarray analysis of
the analyzed sample, one copy of the X chromosome was
detected in all cells and the presence of one copy of the Y
chromosome was detected in a ~40% mosaic state: arr(X)
x1,(Y)x1[0.4]. SRY gene duplication on Y chromosome
was confirmed by fluorescence in situ hybridization (FISH)
and microarray analysis. The patient’s clinical examination
showed ambiguous genitalia (clitoromegaly) and dysmorphic
facial features. The baby underwent surgery for aortic coarctation.
The results were consistent with a genetic diagnosis of
45,X /46,XY mixed gonadal dysgenesis. Genetic counselling
was offered to the family. In conclusion, NIPT still has potential
limitations in correctly identifying sex chromosomes
and mosaicism that may mislead clinicians and families.
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