Chen Xuejun, Zhu Yuanzhen, Zhang Weiguo, Yan Weihua
Reproductive Center of Taizhou Hospital, Taizhou, Zhejiang 317000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 May 10;38(5):477-480. doi: 10.3760/cma.j.cn511374-20200417-00278.
To carry out prenatal diagnosis for a fetus with partial 18p deletion detected by non-invasive prenatal testing (NIPT).
Peripheral blood and amniotic fluid samples of the pregnant woman and her husband were subjected to G-banded chromosomal karyotyping and more accurate chromosomal microarray analysis (CMA). The deletion sites were verified by fluorescence in situ hybridization (FISH) using centromeric probe Cep11 Aqua and telomeric probes Tel11q SO and Tel18 SG.
The karyotype of the fetus was determined as 46,XN,del(18)(p11.3). CMA has detected a 6.66 Mb deletion at 18p11.32-p11.31 (136 226-6 796 178). FISH confirmed the presence of a partial deletion at 18p. The mother was found to harbor the same deletion by chromosomal karyotyping as well as CMA analysis. No abnormality was found with the husband.
Although the fetus and its mother have both carried the same 18p deletion, no clinical manifestation was detected in the mother, which may be attributed to a low penetrance of the disorder. The fetus had died at 33 weeks of gestation with unknown cause.
对通过无创产前检测（NIPT）检测出的18号染色体短臂部分缺失的胎儿进行产前诊断。
对孕妇及其丈夫的外周血和羊水样本进行G显带染色体核型分析以及更精确的染色体微阵列分析（CMA）。使用着丝粒探针Cep11 Aqua和端粒探针Tel11q SO及Tel18 SG通过荧光原位杂交（FISH）验证缺失位点。
胎儿的核型确定为46,XN,del(18)(p11.3)。CMA检测到18p11.32 - p11.31（136226 - 6796178）处有6.66 Mb的缺失。FISH证实18号染色体短臂存在部分缺失。通过染色体核型分析以及CMA分析发现母亲也携带相同的缺失。丈夫未发现异常。
尽管胎儿及其母亲均携带相同的18号染色体短臂缺失，但母亲未检测到临床表现，这可能归因于该病症的低外显率。胎儿在妊娠33周时死亡，死因不明。
