FETAL GROWTH RESTRICTION IN THE RARE CO-OCCURRENCE OF CHROMOSOMAL AND MONOGENIC DISEASES

In this article, we report a unique case of simultaneous occurrence of trisomy X and incontinentia pigmenti (IP) in a prematurely born girl with extremely low birth weight, a scenario that has not been documented in literature worldwide. Understanding fetal growth restriction (FGR) is of paramount importance, as it is a major cause of stillbirth, neonatal morbidity, and mortality. Recent studies have reported the efficacy of noninvasive prenatal screening (NIPS) for fetal aneuploidies through maternal blood sampling as a valuable tool in the management of high-risk pregnancies. This method enables the detection of major fetal aneuploidies, including numerical abnormalities in the sex chromosomes. In our clinical observation, based on the results of early combined screening, the patient was identified as at high risk for preeclampsia and FGR, both of which, despite preventive measures, occurred at the end of the second trimester of pregnancy. From the first days of life, the newborn girl developed characteristic skin lesions associated with IP, inherited in an X-linked manner. Subsequent chromosomal analysis revealed abnormal 47,ХХХ karyotype in the child. Conclusion: This clinical observation demonstrates the effectiveness of contemporary ante-and postnatal diagnostic methods for identifying rare combined genetic pathologies associated with FGR. © 2024, Bionika Media Ltd.. All rights reserved.