Moradkhani Kamran, Puechberty Jacques, Blanchet Patricia, Coubes Christine, Lallaoui Hakima, Lewin Patricia, Lefort Genevieve, Sarda Pierre
Department of Medical Genetics, Chu Montpellier, France.
Prenat Diagn. 2006 Dec;26(12):1179-82. doi: 10.1002/pd.1585.
This study was undertaken to discuss the workup of trisomy 16 pregnancies.
This case study reports the prenatal detection and postnatal confirmation of mosaic trisomy 16, associated with uniparental disomy (UPD) 16, in a 34-year-old woman who showed elevated maternal serum alpha-fetoprotein and beta-HCG at a gestational age (GA) of 15.5 weeks.
Amniotic fluid (AF) karyotyping at different GAs revealed various levels of trisomy 16 mosaicism (0 to level III). UPD studies at 21 weeks of gestation revealed maternal heterodisomy 16. Serial fetal ultrasonography showed fetal abnormalities: intrauterine growth restriction (IUGR), dilated digestive tract, and gallbladder agenesis. Postmortem examination confirmed the prenatal findings and revealed additional anomalies, such as hypoplastic cerebellum with abnormal gyration of the vermis.
Workup following prenatal detection of trisomy 16 mosaicism in chorionic villi must include AF karyotyping and serial ultrasound examination of the fetus in order to approach postnatal developmental prognosis.
本研究旨在探讨16三体妊娠的检查方法。
本病例研究报告了一名34岁女性，在孕15.5周时母体血清甲胎蛋白和β-HCG升高，产前检测及产后证实为与单亲二体（UPD）16相关的嵌合型16三体。
不同孕周的羊水（AF）核型分析显示了不同程度的16三体嵌合现象（0至III级）。孕21周时的UPD研究显示母体16号染色体异源二体。系列胎儿超声检查显示胎儿异常：宫内生长受限（IUGR）、消化道扩张和胆囊缺如。尸检证实了产前检查结果，并发现了其他异常，如小脑发育不全伴蚓部异常回旋。
产前检测到绒毛膜绒毛中存在嵌合型16三体后，检查必须包括AF核型分析和对胎儿进行系列超声检查，以便了解产后发育预后。
