Schwärzler P, Moscoso G, Bernard J P, Hill L, Senat M V, Ville Y
Fetal Medicine Unit, St. George's Hospital Medical School, London, UK.
Ultrasound Obstet Gynecol. 1999 Jan;13(1):67-70. doi: 10.1046/j.1469-0705.1999.13010067.x.
We report a case of the prenatal diagnosis of trisomy 10 in a fetus presenting with an increased nuchal translucency thickness (5 mm) on a routine first-trimester anomaly scan at 12 weeks' gestation. Multiple abnormalities were diagnosed by ultrasound and fetoscopy. Karyotyping on chorionic villus sampling led to the diagnosis of homogeneous trisomy 10 which was confirmed by in situ hybridization on fetal tissue samples. Postmortem examination confirmed major anatomical malformations, including facial cleft, arthrogryposis of the upper and lower limbs and bilateral diaphragmatic hernia, and also revealed hypoplastic lungs, right renal agenesis and a complex cardiac malformation. Trisomy 10 is an uncommon chromosomal abnormality that is likely to be associated with increased fetal nuchal translucency. This case also emphasizes the value of a detailed anomaly scan in high-risk patients in the first trimester of pregnancy.
我们报告了一例妊娠12周时进行常规孕早期异常扫描发现胎儿颈部半透明厚度增加（5毫米），产前诊断为10三体综合征的病例。通过超声和胎儿镜检查诊断出多种异常。绒毛取样的核型分析诊断为纯合性10三体综合征，胎儿组织样本的原位杂交证实了这一诊断。尸检证实存在主要解剖畸形，包括面部裂隙、上下肢关节挛缩和双侧膈疝，还发现肺发育不全、右肾缺如和复杂心脏畸形。10三体综合征是一种罕见的染色体异常，可能与胎儿颈部半透明增厚有关。该病例还强调了孕早期对高危患者进行详细异常扫描的价值。
