Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Prenat Diagn. 2018 Dec;38(13):1103-1110. doi: 10.1002/pd.5370.
To evaluate the risk of adverse pregnancy outcome when trisomy 16 confined to the placenta is diagnosed and to identify possible prognostic markers for adverse outcomes in these pregnancies.
Registered cases (n = 49) of trisomy 16 diagnosed prenatally in Denmark from 1990 to 2013 were included.
Twenty-five of the pregnancies intended to be continued had confined placental trisomy 16 mosaicism (CPM16). Adverse pregnancy outcome was seen in 17 CPM16 pregnancies (68%), ranging from mild small for gestational age (SGA) to fetal malformations and intrauterine demise. For cases ascertained by combined first trimester screening, the median concentration of pregnancy associated plasma protein A (PAPP-A) was 0.17 MoM (IQR: 0.11 MoM). Adverse pregnancy outcome showed a trend toward an association with a high frequency of trisomic cells. Eight children (32%) were born at term with a normal birth weight and no malformations.
The risk of adverse pregnancy outcome in case of CPM16 is correlated to ascertainment by combined first trimester screening and tends to be associated with a high frequency of trisomic cells in the placenta. We recommend that variables including ascertainment, the frequency of trisomic cells, and the maternal serum concentration of PAPP-A are taken into consideration when evaluating the prognosis in CPM16 while acknowledging that these factors are strongly correlated.
评估诊断为胎盘局限型 16 三体时不良妊娠结局的风险，并确定这些妊娠不良结局的可能预后标志物。
纳入 1990 年至 2013 年在丹麦注册的产前诊断为 16 三体的病例（n=49）。
25 例有继续妊娠意愿的病例为胎盘局限型 16 三体嵌合体（CPM16）。17 例 CPM16 妊娠出现不良妊娠结局（68%），范围从轻度胎龄小于正常到胎儿畸形和宫内死亡。对于通过联合早孕期筛查确定的病例，妊娠相关血浆蛋白 A（PAPP-A）的中位数浓度为 0.17 MoM（IQR：0.11 MoM）。不良妊娠结局与高比例三体细胞呈趋势相关。8 名儿童（32%）足月出生，体重正常，无畸形。
CPM16 不良妊娠结局的风险与联合早孕期筛查的确定相关，且倾向于与胎盘内三体细胞的高比例相关。我们建议在评估 CPM16 的预后时，应考虑包括确定方法、三体细胞的频率以及母体血清 PAPP-A 浓度等变量，同时需认识到这些因素具有很强的相关性。
