Technologic advances and ultrasonographer-physician experience in fetal imaging have led to significant improvements in our ability to distinguish between normal and abnormal fetal structural development in the latter part of the first trimester. As a critical component of pregnancy care, assessment of fetal anatomy at the end of the first trimester with a standardized imaging protocol should be offered to all pregnant patients regardless of aneuploidy screening results because it has been demonstrated to identify approximately half of fetal structural malformations. Early identification of abnormalities allows focused genetic counseling, timely diagnostic testing, and subspecialist consultation. In addition, a normal ultrasound examination result offers some degree of reassurance to most patients. Use of cell-free DNA alone for aneuploidy screening while foregoing an accompanying early anatomic evaluation of the fetus will result in many anomalies that are typically detected in the first trimester not being identified until later in pregnancy, thus potentially diminishing the quality of obstetric care for pregnant individuals and possibly limiting their reproductive options, including pregnancy termination.

中文翻译：

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常规产科实践中的孕早期超声筛查。


技术进步和超声医师在胎儿成像方面的经验使我们在妊娠早期后期区分正常和异常胎儿结构发育的能力有了显著提高。作为妊娠护理的关键组成部分，无论非整倍体筛查结果如何，都应向所有妊娠患者提供妊娠早期末期的胎儿解剖结构评估，并采用标准化影像学方案，因为已证明它可以识别大约一半的胎儿结构畸形。早期识别异常有助于进行有针对性的遗传咨询、及时的诊断检测和亚专科会诊。此外，正常的超声检查结果为大多数患者提供了一定程度的保证。单独使用游离 DNA 进行非整倍体筛查，而放弃对胎儿进行伴随的早期解剖学评估，将导致许多通常在妊娠早期检测到的异常直到怀孕后期才被发现，从而可能降低孕妇的产科护理质量，并可能限制他们的生育选择，包括终止妊娠。