CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Université de Bordeaux, Bordeaux, France.
PLoS One. 2018 Apr 12;13(4):e0195905. doi: 10.1371/journal.pone.0195905. eCollection 2018.
We wanted to re-evaluate the influence of confined placental mosaicism subtypes (type 2 and type 3) on pregnancy characteristics and outcome.
From July 2009 to December 2015, 5512 chorionic villus samplings were performed in our Fetal Medicine Center. Conventional karyotyping was performed after long-term and short-term cultured villi to define type 2 or type 3 confined placental mosaicisms. Karyotype after amniocentesis was performed to exclude true fetal mosaicism, when appropriate. Pregnancy characteristics and outcomes were collected and compared to a control population.
Thirty-six (0.65%) confined placental mosaicisms were observed (13 type 2 and 23 type 3). Nuchal translucency was not increased for type 2 and type 3 confined placental mosaicisms. Pregnancy characteristics and outcomes were comparable between type 2 confined placental mosaicisms and the control population. In type 3 confined placental mosaicisms, median first trimester serum pregnancy-associated plasma protein A was lower than for the control population (p<0.001), preterm births were noticed in 56% (p<0.001), small for gestational age newborns in 74% (p<0.001), and adverse pregnancy outcome was reported in 35% (p<0.01).
Although type 2 confined placental mosaicisms appeared to have no influence on pregnancy characteristics and outcome, type 3 confined placental mosaicisms were associated with low levels of first trimester serum pregnancy-associated plasma protein A, preterm birth, small for gestational age newborns, and adverse pregnancy outcomes.
我们希望重新评估局限胎盘嵌合体亚型（2 型和 3 型）对妊娠特征和结局的影响。
自 2009 年 7 月至 2015 年 12 月，我们的胎儿医学中心进行了 5512 例绒毛膜绒毛取样。在长期和短期培养绒毛后进行常规核型分析，以确定 2 型或 3 型局限胎盘嵌合体。当适当的时候，通过羊膜穿刺术进行核型分析以排除真正的胎儿嵌合体。收集并比较妊娠特征和结局与对照组。
观察到 36 例（0.65%）局限胎盘嵌合体（13 例 2 型和 23 例 3 型）。2 型和 3 型局限胎盘嵌合体的颈项透明层厚度没有增加。2 型局限胎盘嵌合体与对照组的妊娠特征和结局相当。在 3 型局限胎盘嵌合体中，妊娠早期血清妊娠相关血浆蛋白 A 的中位数低于对照组（p<0.001），早产发生率为 56%（p<0.001），小于胎龄儿发生率为 74%（p<0.001），不良妊娠结局发生率为 35%（p<0.01）。
虽然 2 型局限胎盘嵌合体似乎对妊娠特征和结局没有影响，但 3 型局限胎盘嵌合体与妊娠早期血清妊娠相关血浆蛋白 A 水平低、早产、小于胎龄儿和不良妊娠结局相关。
