Scholl Jessica, Chasen Stephen
Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York.
Surg J (N Y). 2018 Feb 9;4(1):e1-e6. doi: 10.1055/s-0038-1624564. eCollection 2018 Jan.
To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA). We performed a retrospective study of fetuses with chromosomal abnormalities that would be undetectable by cfDNA, who underwent an 11- to 14-week ultrasound from 2006 to 2016. There were 43 pregnancies included. First-trimester ultrasound revealed a fetal abnormality in 19 (44.2%) cases, of which 13 (30.2%) had a thickened nuchal translucency. There were an additional four fetuses with second-trimester sonographic abnormalities. Overall, 23 (53.5%) fetuses were found to have a major anomaly diagnosed by ultrasound. The rate of first-trimester sonographic abnormalities varied widely based on category of chromosomal abnormalities with high rates seen with triploidy (87.5%) and autosomal trisomy (80%) and lower rates seen with structurally abnormal chromosomes (33.3%), trisomy mosaicism (27.3%), other forms of mosaicism (11.1%), and deletions or duplications (25.0%), < 0.001. The majority of fetuses with uncommon chromosomal abnormalities in our cohort had major sonographic anomalies. The use of first-trimester ultrasound with nuchal translucency measurement may offer utility in identifying fetuses with risk of aneuploidy that would not be detectable with cfDNA.
评估超声在识别患有罕见染色体异常胎儿方面的效用，这些异常被认为无法通过游离胎儿脱氧核糖核酸（cfDNA）检测到。我们对2006年至2016年间接受11至14周超声检查、患有cfDNA无法检测到的染色体异常的胎儿进行了一项回顾性研究。纳入43例妊娠。孕早期超声检查发现19例（44.2%）胎儿有异常，其中13例（30.2%）颈部透明带增厚。另外有4例胎儿在孕中期超声检查时有异常。总体而言，23例（53.5%）胎儿经超声诊断有重大异常。孕早期超声异常率因染色体异常类型而异，三倍体（87.5%）和常染色体三体（80%）的异常率较高，而结构异常染色体（33.3%）、三体嵌合体（27.3%）、其他形式的嵌合体（11.1%）以及缺失或重复（25.0%）的异常率较低，P<0.001。我们队列中大多数患有罕见染色体异常的胎儿有重大超声异常。使用孕早期超声测量颈部透明带可能有助于识别cfDNA无法检测到的非整倍体风险胎儿。
