Shi Panlai, Zhu Ruonan, Zhao Junhong, Kong Xiangdong
Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Aug 10;40(8):954-959. doi: 10.3760/cma.j.cn511374-20220622-00419.
To assess the value of combined copy number variation sequencing (CNV-seq) and chromosomal karyotyping for the diagnosis of amniocytic mosaicisms, in addition with a literature review.
Forty cases of amniocytic mosaicisms detected at the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2021, in addition with 245 mosaicisms retrieved from 11 recent literature were evaluated in terms of detection rate, consistency rate, and pregnancy outcomes.
The detection rate of amniocytic mosaicisms was 0.46% (40/8 621) in our center. And its consistency rate with chromosomal karyotyping was 75.0% (30/40). After genetic counseling, 30 (75.0%) couples had opted to terminate the pregnancy, 5 (12.5%) had decided to continue with the pregnancy, 3 (7.5%) fetuses were born alive, and 2 cases (5.0%) were lost in touch. By contrast, 245 cases (0.39%) of mosaicisms were identified among 63 577 amniotic samples, with a consistency rate of 62.8% (103/164) with other techniques. Among these, 114 cases (55.1%) were terminated, 75 (36.2%) were born alive, and 18 (8.7%) were lost during the follow up.
Combined CNV-seq and chromosomal karyotyping has a high value for the detection of amniotic mosaicisms.
评估联合拷贝数变异测序（CNV-seq）和染色体核型分析在诊断羊膜腔细胞嵌合体中的价值，并进行文献综述。
对2018年1月至2021年12月在郑州大学第一附属医院遗传与产前诊断中心检测出的40例羊膜腔细胞嵌合体病例，以及从11篇近期文献中检索到的245例嵌合体病例，从检出率、符合率和妊娠结局方面进行评估。
本中心羊膜腔细胞嵌合体的检出率为0.46%（40/8621）。其与染色体核型分析的符合率为75.0%（30/40）。经过遗传咨询后，30对（75.0%）夫妇选择终止妊娠，5对（12.5%）决定继续妊娠，3例（7.5%）胎儿存活出生，2例（5.0%）失访。相比之下，在63577例羊水样本中鉴定出245例（0.39%）嵌合体病例，与其他技术的符合率为62.8%（103/164）。其中，114例（55.1%）被终止妊娠，75例（36.2%）存活出生，18例（8.7%）在随访期间失访。
联合CNV-seq和染色体核型分析在检测羊膜腔细胞嵌合体方面具有很高的价值。
