Page 48 - 南京医科大学自然版

南京医科大学学报（自然科学版） 第44卷第8期
·1076 · Journal of Nanjing Medical University（Natural Sciences） 2024年8月

·临床研究·

106例胎儿颈项透明层增厚的超声与遗传学产前诊断结果对照

分析

王咏梅 ，吴 云 ，吴丽君 ，张沁欣 2
1
1
1*
南京医科大学附属妇产医院（南京市妇幼保健院）超声科，遗传医学中心，江苏 南京 210004
1 2

［摘 要］ 目的：探讨产前超声提示胎儿颈项透明层（nuchal translucency，NT）增厚的临床价值，并对比遗传学产前诊断结
果。方法：对106例胎儿NT 增厚的超声与遗传学产前诊断结果进行对比分析（所有胎儿均行染色体微阵列分析，其中有4例进行
了全外显子测序，1例行SMN1 基因检测），并跟踪妊娠结局。结果：共发现44例（41.51%）遗传学异常，2例临床意义不明性拷
贝数变异。遗传学异常中共包含39例染色体异常（34例非整倍体异常和5例为致病性拷贝数变异）及5例基因异常（均为致病
性或可能致病性变异）。随着NT厚度的增加，遗传学异常的发生率明显升高。44例遗传学异常胎儿中有38例（86.36%）合并
其他超声异常，其中鼻骨发育不良占比最高。结论：发现胎儿NT增厚应首先考虑染色体异常尤其是非整倍体异常。NT增厚
还与拷贝数变异及某些单基因遗传病有关。对于染色体微阵列阴性的NT增厚胎儿，可结合超声及家族史等综合考虑行全外
显子检测。
［关键词］ 颈项透明层；产前超声；染色体微阵列分析；全外显子组测序

［中图分类号］ R445.1 ［文献标志码］ A ［文章编号］ 1007⁃4368（2024）08⁃1076⁃06
doi：10.7655/NYDXBNSN240218

A comparative study of ultrasound and genetic prenatal diagnosis in 106 NT⁃thickened
fetuses
1* 1 1 2
WANG Yongmei ，WU Yun ，WU Lijun ，ZHANG Qinxin
1 Department of Ultrasound，Genetic Medicine Center，the Affiliated Obstetrics and Gynaecology Hospital of Nanjing
2
Medical University（Nanjing Maternity and Child Health Care Hospital），Nanjing 210004，China

［Abstract］ Objective：To explore the clinical value of prenatal ultrasound in suggesting thickening of the nuchal translucency（NT）
in fetuses and to compare it with the results of genetic prenatal diagnosis. Methods：The results of ultrasound and genetic prenatal
diagnosis of 106 fetuses with thickening of the NT were compared and analyzed（all fetuses were subjected to chromosomal microarray
analysis，with whole⁃exome sequencing in four cases and SMN1 gene testing in one case），and pregnancy outcomes were followed.
Results：A total of 44 cases（41.51%）of genetic abnormalities and 2 cases of copy number variants of unknown clinical significance
were identified. These genetic abnormalities included 39 cases of chromosomal abnormalities（34 cases of aneuploidy abnormalities
and 5 cases of pathogenic copy number variants）and 5 cases of genetic abnormalities（all pathogenic or suspected pathogenic variants）.
The incidence of genetic abnormalities increased significantly with increasing thickness of the NT. In addition，38（86.36%）of 44
fetuses with genetic abnormalities were combined with other ultrasound abnormalities，with the highest percentage of nasal bone
dysplasia. Conclusion：When thickened NT is detected in fetuses，chromosomal abnormalities，especially aneuploidy，should be
considered first. The thickened NT is also associated with copy number variations and certain monogenic inherited diseases. For
fetuses with thickened NT and negative chromosome microarray analysis，comprehensive consideration including ultrasound and family
history may warrant the whole⁃exome sequencing.
［Key words］ nuchal translucency；prenatal ultrasound；chromosomal microarray analysis；whole⁃exome sequencing
［J Nanjing Med Univ，2024，44（08）：1076⁃1081］

［基金项目］ 国家自然科学基金（82101943）
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通信作者（Corresponding author），E⁃mail：13912923229@163.com