Non-invasive genetic testing (NIPT)

  Peripheral blood fetal chromosome aneuploidy prenatal testing technology (NIPT), commonly known as non-invasive prenatal testing, is performed by collecting peripheral blood from pregnant women, extracting fetal free DNA, and using new generation high-throughput sequencing technology combined with bioinformatics analysis to derive the risk of the fetus being a chromosomal aneuploidy (currently 21-trisomy, 18-trisomy and 13-trisomy). The best detection time for this method is 14+0-22+6 weeks of gestation, with the characteristics of non-invasive sampling, no risk of miscarriage, high sensitivity and high accuracy, which is gradually recognized by the general public, however, NIPT is only an auxiliary prenatal detection technology, and its inherent limitations make it not a substitute for traditional invasive prenatal diagnosis, and non-invasive detection of high-risk patients still requires amniocentesis, umbilical vein puncture and other invasive prenatal diagnosis as the diagnostic standard. Non-invasive detection of high-risk patients still requires amniocentesis, umbilical vein puncture and other invasive prenatal diagnosis as diagnostic criteria.  (1) Critical risk for Down’s syndrome screening: i.e. 1/1000≤ Trisomy 21 risk value <1/270; 1/1000≤ Trisomy 18 risk value <1/350.  (2) Those with contraindications to interventional prenatal diagnosis (amniotic fluid) (preterm abortion, fever, bleeding tendency, unresolved infection, etc.).  (3) At the time of consultation, the patient is 20+6 weeks of gestation or more, misses the best time for serological screening, or misses the time for routine prenatal diagnosis, but requests to reduce the risk of trisomy 21, trisomy 18, trisomy 13.  Pregnant women with the following conditions belong to the cautionary population, i.e., the screening effect of this test in this population has decreased to a certain extent compared with the applicable population, i.e., the detection rate of screening has decreased and the false-positive and false-negative rates have increased, or pregnant women who have met the indications for interventional prenatal diagnosis and refused to choose interventional prenatal diagnosis directly after being informed. (1) Pregnant women with high risk of prenatal screening, elderly pregnant women with due date age ≥ 35 years, and pregnant women with other indications for direct prenatal diagnosis who refused to choose interventional prenatal diagnosis after being informed.  (2) Pregnant women with gestational weeks <12 weeks.  (3) Pregnant women with high body weight (weight >100 kg).  (4) Pregnant women conceived by in vitro fertilization-embryo transfer (hereinafter referred to as IVF-ET).  (5) Pregnant women with twin pregnancies.  (6) Pregnant women with combined malignant tumors.  Contraindicated groups (1) History of delivery of chromosomally abnormal fetus.  (2) Pregnant women with one of the spouses having clear chromosomal abnormalities.  (3) Pregnant women who have received allogeneic blood transfusion, transplantation, cell therapy or immunotherapy within one year, which will interfere with the results of prenatal screening and diagnosis by high-throughput gene sequencing.  (4)Fetus with suspected abnormalities in ultrasound examination.  (5) People at high risk for various genetic diseases.  Every couple is at risk of having a child with chromosomal disorders, which occur by chance and randomly, without a clear family history or history of abnormal environmental exposure, and the incidence increases with maternal age, and there is no effective treatment for chromosomal disorders. Clinicians need to strictly grasp the indications for various prenatal testing and prenatal diagnostic techniques to be responsible for patients while controlling medical risks and avoiding doctor-patient disputes.