Reiff Emily S, Little Sarah E, Dobson Lori, Wilkins-Haug Louise, Bromley Bryann
Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.
Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA, USA.
Prenat Diagn. 2016 Mar;36(3):260-5. doi: 10.1002/pd.4774. Epub 2016 Feb 5.
This study aimed to examine the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening.
A retrospective cohort study of women at increased risk for aneuploidy based on age or medical history and negative cell-free DNA screening between March 2012 and March 2014 was conducted. Patients were included if they had an 11- to 14-week ultrasound and obstetrical care at our center(s). Primary outcome was an unexpected finding at ultrasound. Imaging findings were compared with obstetrical outcome by medical record review.
Study group was composed of 1739 patients. An unexpected finding was identified in 60/1739 (3.5%). An abnormal fetal finding occurred in 37 living fetuses (2.1%); 33 had a nuchal translucency (NT) ≥ 3 mm, including four 'isolated' cystic hygroma and three with a structural abnormality. Four fetuses had a structural anomaly without a thick NT. Karyotype confirmed euploidy in 98.7% of available cases. Pregnancy termination was chosen by 63.6% of those with cystic hygroma or anomaly at the 11- to 14-week scan. Unexpected multiples were identified in 13 (0.7%) women and a fetal demise in 10 (0.6%).
Unexpected findings at the 11- to 14-week scan occur in 3.5% of patients with negative cell-free DNA. Recognition provides options for comprehensive testing, consultation, and management.
本研究旨在探讨11至14周超声检查在无细胞DNA筛查结果为阴性的女性中的作用。
对2012年3月至2014年3月期间因年龄或病史而患非整倍体风险增加且无细胞DNA筛查结果为阴性的女性进行了一项回顾性队列研究。如果患者在我们中心接受了11至14周的超声检查和产科护理，则纳入研究。主要结局是超声检查中意外发现的情况。通过病历审查将影像学检查结果与产科结局进行比较。
研究组由1739例患者组成。在1739例中有60例（3.5%）发现了意外情况。37例存活胎儿（2.1%）出现了异常胎儿情况；33例颈部透明带（NT）≥3mm，包括4例“孤立性”囊状水瘤和3例伴有结构异常的情况。4例胎儿有结构异常但NT不厚。在98.7%的可用病例中，核型证实为整倍体。在11至14周扫描时发现囊状水瘤或异常的患者中，63.6%选择了终止妊娠。13例（0.7%）女性发现了意外的多胎妊娠，10例（0.6%）发现了胎儿死亡。
在无细胞DNA筛查结果为阴性的患者中，11至14周扫描时意外发现的情况发生率为3.5%。识别这些情况为全面检查、咨询和管理提供了选择。
