Villa Nicoletta, Redaelli Serena, Farina Stefania, Sala Elena, Crosti Francesca, Cozzolino Sabrina, Verderio Maria, Dalprà Leda, Roversi Gaia, Bentivegna Angela, Cazzaniga Giovanni, Lavitrano Marialuisa, Conconi Donatella
UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.
School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
Diagnostics (Basel). 2024 Aug 9;14(16):1732. doi: 10.3390/diagnostics14161732.
When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an invasive investigation. Here, we focused our attention on prenatal diagnosis issues in cases of foetuses with cytogenetically balanced reciprocal translocations. We report the finding of a cytogenetically balanced, de facto genomically unbalanced translocation that poses a challenge in a case of prenatal diagnosis, changing the risk of Down syndrome in a Zellweger syndromic spectrum risk ( deletion). At term, a healthy baby was born. This case teaches that prenatal diagnosis in cases of foetuses at increased risk of chromosomal abnormality imperatively requires molecular investigation in addition to a morphological karyotype.
在妊娠早期对胎儿进行超声检查时，若观察到颈项透明层增厚（>3.00 mm），则认为染色体病风险增加，会为孕妇提供进行侵入性检查的可能性。在此，我们将注意力集中在具有细胞遗传学平衡的相互易位的胎儿病例的产前诊断问题上。我们报告了一例细胞遗传学平衡但实际上基因组不平衡的易位病例，该病例在产前诊断中构成挑战，改变了齐尔韦格综合征谱系风险（缺失）中唐氏综合征的风险。足月时，一名健康婴儿出生。该病例表明，对于染色体异常风险增加的胎儿病例，产前诊断除了进行形态学核型分析外，还迫切需要进行分子检测。
