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Article by Dr. Ly Thi Thanh Ha - Medical Genetics Division, Vinmec High-Tech Center.NIPT (Non-invasive Prenatal Testing) is the most comprehensive and accurate non-invasive prenatal screening test available today (over 99%). This test is done from the 10th week of pregnancy to help screen for some syndromes such as: Down, Patau, Edwards and some abnormalities in terms of sex. NIPT is also an absolutely safe screening method for mother and fetus.
According to the Decision of the Ministry of Health dated April 21, 2020, promulgating guidelines on technical expertise in screening, diagnosis, prenatal and neonatal treatment, testing fetal DNA circulating in blood. maternal (non-invasive prenatal screening technique - NIPT) is used to screen for fetal chromosomal abnormalities. According to this decision, the Ministry of Health recommends: The gestational week to perform NIPT test should be ≥ 10 weeks after the pregnancy ultrasound results are available and the genetic counselor consults for appropriate indications. This test can replace the PAPP-A and free beta hCG tests or be in addition to the above tests, as the case may be.
Gói sàng lọc trước sinh Vin NIPT do Khối Di truyền Y học, Trung tâm công nghệ cao Vinmec cung cấp
1. Basis of the NIPT . Screening Test
During pregnancy, from the 5th - 6th week of pregnancy, some amount of DNA (genetic material) of the fetus will be released and move freely in the mother's blood through the placenta. Based on this feature, scientists will take 7-10ml of the mother's venous blood and conduct extraction of those free DNA. The results after analysis will help assess the risk of the fetus with birth defects. This NIPT prenatal screening test has high accuracy, thereby limiting invasive tests (amniocentesis, chorionic villus sampling) that harm mother and baby.2. What syndromes does NIPT screen for?
NIPT can screen for syndromes caused by chromosomal abnormalities such as: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 18), body 13) and some abnormal sex syndromes such as: Turner syndrome (45, X), Klinefelter (47,XXY), super female syndrome (47,XXX), super male syndrome (47,XYY) ).2.1. Down syndrome Down syndrome, also known as intellectual disability, is a common birth defect caused by an extra chromosome 21 (trisomy 21). Children with Down syndrome will have a characteristic facial appearance such as:
Slanted eyes, sometimes crossed, slightly swollen and red nose Flat, flat nose Protruding mouth, always open, tongue sticking out Small stature, face looks silly In addition, children with Down syndrome also have health problems related to cardiovascular, intestinal, and reproductive diseases. These children also have difficulty in thinking, so the disease is also called "intellectual disability".
Hình ảnh kết quả Bộ nhiễm sắc thể của trẻ mang hội chứng Down – tam nhiễm sắc thể 21
Children with Patau syndrome often have severe cognitive and morphological disabilities and are difficult to survive to adulthood. Children can have microcephaly, eye defects, cleft lip, cleft palate or deformity of limbs. In addition, children also have heart and kidney problems, have a single ventriculomegaly, and most have mental retardation.
2.3. Edwards syndrome Children have Edwards syndrome when they have an extra chromosome on chromosome 18 (trisomy 18). At birth, only 5-10% of babies survive for 1 year. Children also have physical and intellectual problems such as low birth weight, abnormal heart and lung development, and difficulties in eating and living.
2.4. The syndromes caused by abnormal sex chromosomes When one chromosome is missing or extra in the sex chromosome pair, the child will have morphological abnormalities such as:
Shortness, short neck, concave legs, legs low hair (Turner syndrome – partial or complete loss of the X sex chromosome). Taller than average height, long limbs, weak muscle tone, poor mobility (Klinefelter syndrome – an extra X chromosome, Jacobs syndrome – an extra Y chromosome). In addition, children with abnormalities in terms of sex also have reproductive problems such as amenorrhea, premature ovarian failure (girls), little or no sperm, low sex drive that makes them mature. facing poor fertility or inability to reproduce (boys).
3. Comparison of NIPT screening test with traditional screening methods Double Test, Triple Test
| Phương pháp sàng lọc | Số bệnh tầm soát được | Thời gian thực hiện | Độ chính xác | Sai số |
| Double Test | Down, Patau, Edwards | Từ tuần thai 11 - 13 | 65 – 85% | 3 – 4% |
| Triple Test | Down, Edwards, Dị tật ống thần kinh | Từ tuần thai 15 – 22 | 65 – 85% | 3 – 4% |
| NIPT | Down, Patau, Edwards, bất thường nhiễm sắc thể X, Y | Từ tuần thai thứ 10 cho đến hết thai kỳ. | >99% | < 0,1% |
4. In which case should you choose NIPT?
You have prenatal screening tests like: Ultrasound, Double Test, Triple Test for high risk results. You do not have a screening test in the first 3 months (due to a delay in time or your place does not have this test,...) disability. You got pregnant when you were 35 or older
Nếu bạn mang thai sau tuổi 35, bạn nên chọn NIPT
5. What will you get when you screen for NIPT at Vinmec Hospital?
Choosing the VinNIPT package at Vinmec International Hospital, you will receive the following additional benefits:Get genetic counseling with experienced genetic experts before and after testing. Screening tests are carried out according to the standards of Illumina (USA) with a strict and synchronized process. In case of high-risk test results on chromosomes 13, 18, 21, X, Y, Vinmec's medical team will continue to accompany you with a fetal testing package including: Diagnostic test for abnormalities on chromosomes 13, 18, 21, X and Y by QF PCR technique. Test the chromosomal formula from amniotic cells. The above tests will be performed directly by a team of doctors and medical staff with Vinmec's modern facilities and equipment.
Choose the VinNIPT package at Vinmec International General Hospital to ensure your child a completely healthy and secure future!
Address: Medical Genetics Block, Vinmec High-Tech Center, 458 Minh Khai, Hai Ba Trung, Hanoi
Hotline: 033.7504234
Please dial HOTLINE for more information or register for an appointment HERE. Download MyVinmec app to make appointments faster and to manage your bookings easily.
