Zhen Li, Pan Min, Li Yan-Ting, Cao Qun, Xu Li-Li, Li Dong-Zhi
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, China.
J Matern Fetal Neonatal Med. 2022 Dec;35(25):9435-9439. doi: 10.1080/14767058.2022.2040477. Epub 2022 Feb 20.
The aim of this prospective study is to evaluate the performance of the intermediate 16-week ultrasound in fetuses with increased nuchal translucency (NT) and a normal chromosomal microarray analysis (CMA).
During a one-year period, a detailed ultrasound was performed at 16 week' gestation for patients with an increased NT (≥3.5 mm) and normal CMA. Pregnancy work-up included a traditional 22-week ultrasound scan, an echocardiography, and the option of a 10-gene Rasopathy panel after a normal 16-week scan. Abnormal findings and pregnancy outcomes were collected and analyzed.
In 52 fetuses with an isolated increased NT and normal CMA, 14 (26.5%) were noted to have structural defects on the 16-week ultrasound. Intrauterine fetal death occurred in one (1.9%) case identified by the 16-week scan. Of the remaining 37 cases, six opted for a RASopathy panel. In this group, one case of Noonan syndrome was detected. One case of unilateral duplex kidney had not been found until the 22-week scan. One case of fetal growth restriction was identified in the third trimester. The remaining 34 cases proceeded with normal ultrasound to term.
The 16-week ultrasound scan performed on fetuses with increased NT and normal CMA could detect the majority of structural abnormalities that are expected to be identified traditionally at 20-24 weeks.
本前瞻性研究旨在评估孕16周中期超声对颈项透明层（NT）增厚且染色体微阵列分析（CMA）正常的胎儿的检查效果。
在一年时间里，对NT增厚（≥3.5毫米）且CMA正常的患者在孕16周时进行详细超声检查。孕期检查包括传统的孕22周超声扫描、超声心动图检查，以及在孕16周扫描正常后选择进行10基因Rasopathy检测。收集并分析异常发现和妊娠结局。
在52例孤立性NT增厚且CMA正常的胎儿中，14例（26.5%）在孕16周超声检查时被发现有结构缺陷。孕16周扫描发现1例（1.9%）发生宫内胎儿死亡。其余37例中，6例选择进行Rasopathy检测。在该组中，检测出1例努南综合征。1例单侧重复肾直到孕22周扫描时才被发现。孕晚期发现1例胎儿生长受限。其余34例超声检查正常直至足月。
对NT增厚且CMA正常的胎儿进行孕16周超声扫描，可以检测出大多数传统上预计在孕20 - 24周时才能发现的结构异常。
