The most important fetal chromosomal tests in the second trimester, including Down's screening, noninvasive DNA prenatal testing, and amniocentesis. As a prenatal screening institution, our hospital can currently carry out Down's screening, and jointly with the Second Affiliated Hospital of West China and the Sichuan Provincial Maternal and Child Health Hospital to carry out a non-invasive DNA prenatal testing project, providing convenient services for pregnant mothers and eliminating the pain of travel.
The era of three children has arrived, in order to welcome the arrival of healthy babies, the fetal chromosome test in the middle pregnancy has made mothers very entangled:
Down's screening
Non-invasive DNA
amniocentesis
Which one to choose?
With the rapid development and wide application of a new generation of high-throughput sequencing technology, an emerging detection technology with non-invasive sampling, no risk of miscarriage, high sensitivity and high accuracy - non-invasive DNA prenatal detection came into being!
Non-invasive Prenatal Testing (NIPT) uses next-generation DNA sequencing technology to sequence free DNA fragments (including fetal free DNA) in the maternal peripheral plasma by collecting pregnant women's peripheral blood, and bioinformatics analysis of the sequencing results to determine the risk of fetal aneuploidy disease (trisomy 21, trisomy 18, trisomy 13).
Its technical features are as follows
Early pregnancy can be detected at 12 weeks, the best 12 to 22 + 6 weeks, early to do early peace of mind;
Ann draws only 8-10 ml of venous blood, without fasting;
All-time testing common trisomy 21, 18, 13;
Quasi-21, 18, 13 trisomy comprehensive detection rate can reach 99%, DNA level detection;
Fast 7-15 working days.
The traditional method is compared to NIPT
Suitable for people
(1) All 12-22+6 weeks of live birth single/twin population
(2) Contraindications to interventional prenatal diagnosis (threatened miscarriage, fever, bleeding tendency, unhealed infection, etc.)
(3) Prenatal screening of high-risk or critical high-risk pregnant women (such as trisomy 21 risk rate in 1/270-1/1000)
(4) Pregnant women who are at the time of diagnosis and are at a larger gestational age beyond the current prenatal screening range
(5) Pregnant women who are extremely anxious about interventional prenatal diagnosis
Use crowds with caution
(1) The expected age of delivery ≥ 35 years;
(2) severe obesity (body mass index >40);
(3) Conception by in vitro fertilization-embryo transfer (commonly known as IVF);
(4) There is a history of chromosomal abnormalities in fetal delivery.
Not suitable for people
(1) Pregnant women with more than triplets;
(2) Pregnant women with clear chromosomal abnormalities in one of the spouses;
(3) Have received allogeneic blood transfusion or transplantation or allogeneic cell therapy within one year;
(4) Fetal ultrasonography suggests that there are structural abnormalities that require prenatal diagnosis;
(5) Have a family history of genetic diseases or indicate that the fetus is at high risk of genetic diseases;
(6) Malignant tumors during pregnancy and other situations that doctors believe have obvious effects on the accuracy of the results.
Interpretation of the report
High risk: genetic counseling and interventional prenatal diagnosis are required;
Low risk: The risk of the fetus developing the target disease is low, other abnormalities are not excluded, and follow-up prenatal tests such as ultrasound of the fetal system are required.
Text | Yang Yan
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