Impact of NIPT on prenatal ultrasound

Non-invasive prenatal testing (NIPT, non-invasive DNA) has grown tremendously over the past few years and has largely changed the traditional paradigm of prenatal screening and diagnosis. However, despite its high accuracy, it is still necessary to confirm the diagnosis in conjunction with or with other tests. Ultrasound evaluation is one of these indispensable tests. For this reason, experts of the International Society of Ultrasound in Gynecology and Obstetrics (ISUOG) have reached the following consensus on the use of NIPT: 1. Early pregnancy ultrasound screening should be offered to all pregnant women, regardless of whether she does or doesn’t undergo NIPT. 2. Counseling prior to the examination is essential. The advantages and disadvantages of choosing between the various tests should be clearly explained to the pregnant woman, including the expected results and potential adverse effects. 3. Early ultrasound screening should be performed in accordance with the relevant guidelines, after which pregnant women should be offered the following three options for further assessment of risk for trisomy 21, 18, and 13. ① Early pregnancy screening based on maternal age, NT, serologic and other ultrasound soft indicators. Screening results are used to determine whether NIPT, invasive testing, or no further testing is required. Positive cut-off values for screening should refer to relevant local norms. ② Invasive testing can be performed directly when the mother is at high risk for age and has a history of aneuploid births, without additional risk assessment. ③ NIPT can be used as first-line screening. However, the current guidelines endorsing NIPT are based on data from testing in high-risk populations. For intermediate-risk or low-risk populations, the use of NIPT will be widely recognized with more research and at a lower cost. 4. NIPT is not a diagnostic test and abnormal NIPT results require invasive testing to confirm the diagnosis. 5. Widespread use of NIPT in low-risk populations has not been evaluated, and the accuracy of positive predictions will decrease. 6. If a pregnant woman has a normal NIPT result, serologic screening and NT measurement are not necessary to assess risk for trisomies 21, 18, and 13. 7. NIPT can be used as an alternative to invasive testing in pregnant women with abnormal screening results. It can also be offered to pregnant women with moderate risk screening results. For very high risk (>1:10) without ultrasound abnormalities, there is no evidence to support NIPT as an alternative to traditional invasive testing. Expert opinion is that NIPT should not replace invasive testing because trisomies 21, 18, and 13 account for only 70% of chromosomal abnormalities, and microarray technology can provide more clinical information. 9. When abnormalities of fetal organ structure are detected, even if the NIPT result is normal, fetal chromosomal karyotype should still be performed. Fetal karyotyping and microarray should still be performed. 10. The accuracy of NIPT for twin fetuses still needs further study. If the NIPT result is normal, there is no need to perform “genetic ultrasound” screening for trisomy 21 soft index. 12. Technically, NIPT can detect not only trisomy 21, but also other genetic syndromes, but we should be aware that the false-positive rate will increase.