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Chinese Journal of Medical Ultrasound (Electronic Edition) ›› 2022, Vol. 19 ›› Issue (09): 873-876. doi: 10.3877/cma.j.issn.1672-6448.2022.09.001

Special Issue:

• Editorial •     Next Articles

Value of first trimester ultrasound scanning in the era of non-invasive prenatal testing

Yunyun Ren1,()   

  1. 1. Department of Ultrasound, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200090, China
  • Received:2022-04-17 Online:2022-09-01 Published:2022-11-03
  • Contact: Yunyun Ren

Abstract:

First trimester screening has two goals: fetal anatomy scanning and aneuploidy screening. In the early 1980s, the screening programs based on fetal nuchal translucency (NT) and maternal serum biochemical markers were established; the detection rate for trisomy 21 was 85%-90%, with a 5% false-positive rate. Since 2011, non-invasive prenatal testing (NIPT) has been widely carried out. The detection rate for trisomy 21 is 98%-99%, and the false positive rate is less than 0.5%. NIPT provides a test whose sensitivity and specificity in screening for the most common aneuploidies far outstrips anything available at this time. In chromosomally normal fetuses, increased NT raises suspicion for many other anomalies and syndromes, particularly congenital heart defects, which are not amenable to NIPT. In the era of NIPT, the emphasis of ultrasound screening in first trimester pregnancy is to assess fetal anatomy, including NT. If NT is increased, attention should be paid to understanding whether there are structural abnormalities and genetic syndromes. NIPT cannot replace ultrasound scanning in first trimester pregnancy.

Key words: Ultrasound, Non-invasive prenatal testing, First trimester

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