Kyeong Kyu-Sang, Yeon Hyeonkyeong, Jeong Eun-Hwan
a Chungbuk National University Hospital, Chungbuk National University College of Medicine , Obstetrics and Gynecology , Cheongju , Republic of Korea.
Fetal Pediatr Pathol. 2015;34(5):328-31. doi: 10.3109/15513815.2015.1068415. Epub 2015 Jul 24.
Confined placental mosaicism (CPM) of trisomy 16 is related to intrauterine growth restriction; however, its association with increased nuchal translucency (NT) has not been sufficiently studied. We report the first case involving a diagnosis of CPM for trisomy 16 in a dichorionic twin. Increased NT (3.7 mm) and 1 week of growth retardation at 12 weeks of gestational age were detected in the affected fetus compared with the normal fetus. Given that the biochemical analytes in maternal serum aneuploidy screening of the abnormal fetus were diluted by the presence of the normal fetus, this method was unreliable as a screening tool. Therefore, in dichorionic twins, ultrasonographic findings such as increased NT and early growth retardation can serve as important indicators for the diagnosis of CPM of trisomy 16.
16三体的局限性胎盘嵌合体（CPM）与宫内生长受限有关；然而，其与颈项透明层（NT）增厚的关联尚未得到充分研究。我们报告了首例双绒毛膜双胎中诊断为16三体CPM的病例。与正常胎儿相比，受影响胎儿在孕12周时检测到NT增厚（3.7毫米）和生长迟缓1周。鉴于正常胎儿的存在稀释了异常胎儿母体血清非整倍体筛查中的生化分析物，该方法作为筛查工具并不可靠。因此，在双绒毛膜双胎中，NT增厚和早期生长迟缓等超声检查结果可作为诊断16三体CPM的重要指标。
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