The non-invasive DNA prenatal testing technology only requires taking maternal venous blood, sequencing free DNA fragments (including fetal free DNA) in maternal peripheral plasma using next-generation DNA sequencing technology, and performing bioinformatics analysis on the sequencing results, from which fetal genetic information can be obtained to detect whether the fetus has trisomy 21 (Down’s syndrome), trisomy 18 (Edward’s syndrome), trisomy 13 (Patau’s syndrome), and trisomy 21 (Down’s syndrome). trisomy 18 (Edward’s syndrome) and trisomy 13 (Patau’s syndrome). At present, this technology can only accurately detect chromosomal disorders with abnormal chromosome numbers in the above three chromosomes. Other chromosome number and structure abnormalities cannot be detected. The relatively common Turner’s syndrome and Klinefelter’s syndrome cannot be diagnosed by non-invasive prenatal genetic testing. Thus, there are certain indications for noninvasive prenatal testing: 1. Pregnant women of advanced age (age ≥ 35 years) who do not wish to opt for invasive prenatal diagnosis. Pregnant women who wish to exclude trisomy 21, trisomy 18, trisomy 13 and voluntarily choose to undergo non-invasive prenatal testing; 2. Pregnant women with high risk or altered values of single indicators in Down screening who do not wish to choose invasive prenatal diagnosis; 3. Pregnant women who are not suitable for invasive prenatal diagnosis, such as virus carriers, placenta previa, placenta hypoplacenta, low amniotic fluid, RH blood group negative, history of miscarriage, preterm miscarriage or precious Pregnant women who wish to exclude fetal trisomy 21, trisomy 18 and trisomy 13 and voluntarily choose to perform non-invasive prenatal testing; 4. Pregnant women who fail amniocentesis cell culture and do not want to receive it again or miss the time of amniocentesis and cannot perform invasive prenatal diagnosis; pregnant women who wish to exclude fetal trisomy 21, trisomy 18 and trisomy 13 and voluntarily choose to perform non-invasive prenatal testing. Pregnant women with balanced chromosome structure abnormalities (balanced translocation, Robertson translocation, chromosome inversion). Couples carrying balanced chromosomal structural abnormalities are at risk of having children with chromosomal structural abnormalities, which are usually localized deletions or duplications of chromosomes. Non-invasive prenatal genetic testing is currently unable to determine these conditions, and therefore fetal chromosomal testing should be performed by amniocentesis; 2. Suspected fetal chromosomal structural abnormalities Non-invasive prenatal genetic testing is not suitable for cases where ultrasound reveals abnormal fetal organ structure or where the fetus is suspected of carrying chromosomal structural abnormalities due to other circumstances. The non-invasive prenatal genetic test can only diagnose the number of chromosome 13, 18 and 21 abnormalities, but cannot detect other chromosome structural abnormalities; 3. Pregnant women with more than 2 spontaneous miscarriages of unknown origin, stillbirths and abnormal fetuses. Non-invasive prenatal genetic testing can only diagnose the number of chromosome 13, 18 and 21 abnormalities, but not other chromosome structure abnormalities; 4. Single gene disease. Non-invasive prenatal genetic testing cannot detect any single-gene genetic disorders, and despite the fact that the name of the test includes the word “gene”, it cannot detect genetic defects. Therefore, any pregnant woman seeking prenatal diagnosis of a monogenic disease should receive a targeted genetic prenatal diagnosis through amniocentesis and not rely on non-invasive prenatal genetic testing. 5. Advanced maternal age. Pregnant women of advanced age face a greater risk of having a child with a chromosomal abnormality. Although Down syndrome is the most common, some other common chromosome number abnormalities, such as X and Y chromosome number abnormalities, are still problematic to determine by non-invasive prenatal genetic testing. Therefore, it is advisable to carefully consider the pros and cons of amniocentesis chromosome testing and noninvasive prenatal genetic testing in pregnant women of advanced age. There is no clinical guideline with reference, and I tend to advise pregnant women to opt for amniocentesis chromosome testing if they are not Rh-negative blood type, hepatitis B positive, coagulation disorders and other contraindications to amniocentesis. It is important to note that currently, the non-invasive DNA test is a screening test and abnormal results detected must also be confirmed by amniocentesis or cord blood puncture.