Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing.
Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing.
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病例报告：通过无创产前检测初步发现胎儿四体9p的产前诊断
DOI：
10.3389/fgene.2022.1020525
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发表时间：
2022
影响因子：
3.7
通讯作者：
中科院分区：
文献类型：
--
作者：
9 p四体是一种罕见的综合征，其特征是胎儿生长受限，Dandy-Walker畸形，心脏畸形和面部畸形，并在产前检查中通过超声发现。在此，我们报告了一个胎儿四体9 p没有明显的表型表现，在第一个三个月，确定了非侵入性产前检查（NIPT）。NIPT显示9p24.3- 9 p11的增益大小约为46.36 Mb。核母细胞的核型分析表明，在所有中期有一个额外的标记。染色体微阵列和荧光原位杂交结果显示，该胎儿为9p24.3q13四体，其额外染色体为双着丝粒等臂染色体，由9 p臂的两个拷贝组成，表明该胎儿的核型为47，XY，+X10（9）（q13）。
Tetrasomy 9p is a rare syndrome characterized by fetal growth restriction, Dandy-Walker malformation, cardiac anomalies, and facial abnormalities and is discovered by ultrasound during the prenatal examination. Herein, we report a fetus of tetrasomy 9p without obvious phenotypic manifestations during the first trimester that was identified by non-invasive prenatal testing (NIPT). NIPT revealed that the gain of 9p24.3–9p11 that was approximately 46.36 Mb in size. Karyotyping of amniocytes indicated an additional marker in all metaphase. Chromosome microarray and fluorescence in situ hybridization on uncultured amniocytes revealed tetrasomic of 9p24.3q13, and that the supernumerary chromosome is a dicentric isochromosome consisted of two copies of the 9p arm. Taken together, it was indicated that the fetal karyotype was 47,XY,+idic (9) (q13), and that multiple techniques are crucial to the prenatal diagnosis.
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影响因子：
3
作者：
de Ravel, TJL;Keymolen, K;Vermeesch, JR
通讯作者：
Vermeesch, JR
影响因子：
3.1
作者：
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通讯作者：
Rotmensch, Sigfried
影响因子：
5.2
作者：
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Szuhai, Karoly
影响因子：
3.7
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通讯作者：
Dong M
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影响因子：
8.8
作者：
Liang, Desheng;Cram, David S.;Wu, Lingqian
通讯作者：
Wu, Lingqian