Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review

Abstract

BackgroundTrisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians.Case presentationIn this present study, we reported one case of pregnancy woman with trisomy 8 mosaicism. Noninvasive prenatal testing prompted an abnormal Z-score, but further three dimension color ultrasound result suggested a single live fetus with no abnormality. The phenotypic of the pregnant woman was normal. Based on our results, there were no abnormal initial myeloid cells (< 10− 4), which suggested that the patient had no blood diseases. The peripheral blood karyotype of the patient was 47,XX,+ 8[67]/46,XX [13], and karyotype of amniotic fluid was 46, XX. The next generation sequencing (NGS) result suggested that the proportions of trisomy 8 in different tissues were obviously different; and 0% in amniotic fluid. Last, the chromosomes of the patient and her baby were confirmed using chromosome microarray analysis (CMA), and the results were arr[GRCh37](8) × 3,11p15.5p13(230750–33,455,733) × 2 hmz and normal.ConclusionsThis pregnancy woman was trisomy 8 mosaicism, but the phenotypic was normal, and also the fetus was normal. Carefully cytogenetic diagnoses should be performed for prenatal diagnose.

Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond

“…Knowledge on the tissue of origin offers possibilities, for instance, to distinguish between fetuses in multiple pregnancies or to distinguish between fetal anomalies and maternal mosaic anomalies if for instance a trisomy 8 is found. 78 Similarly, noninvasive detection of epigenetic markers on ctDNA allows for tracing back the tissue where the tumor is located. 79 At the intersection of perinatal medicine and oncology, NIPT results sometimes display maternal cancer signatures 29 , which can be linked to a potential tissue of origin for adequate confirmation by further diagnostics.…”

Clinical genetic description and analysis of the case of chromosomal mosaicism mos47,XY,+8/46,XY

“…Выявлялись отдельные новорожденные без серьезных аномалий с удовлетворительным физическим и интеллектуальным развитием в дальнейшем, нормальной продолжительностью жизни, репродуктивными проблемами во взрослом состоянии [4] и даже имеющие детей [5]. Однако большинство пациентов имеет выраженные пороки развития, заметные уже при рождении [2,[6][7][8][9][10].…”

“…Внутренние органы обычно без летальных поражений; часто отмечаются агенезия мозолистого тела, вентрикуломегалия, пороки сердца различной степени тяжести, гидронефроз. Нарушения психомоторного развития достаточно мягкие: задержка развития речи и моторных навыков, умеренная умственная отсталость [6][7][8]10].…”