Giant baby forecasting model based on peripheral blood free DNA detection
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A prediction model and peripheral blood technology, applied in the field of macrosomia prediction model, can solve problems such as inaccurate prediction of macrosomia, and achieve good application prospects
Active Publication Date: 2019-10-08
GUANGZHOU DARUI BIOTECH
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Embodiment 1
[0045] Example 1 Model method for predicting macrosomia based on peripheral blood cell-free DNA
[0046] The method of the present invention for predicting macrosomia based on free DNA in peripheral blood is as follows: compare the sequencing results of free DNA in peripheral blood with the genome sequence map, and then calculate the number of DNA fragments from the transcription start site region of the gene to be tested in the same sample , corrected according to the total number of DNA sequences, and after normalizing the abundance of free DNA, use machine learning algorithms to calculate and output the prediction results of macrosomia in pregnant women through the optimal combination of different differential genes, which can effectively predict macrosomia onset.
[0047] Specifically, the method steps are as follows:
[0048] Step 1: Determine where the DNA fragments in the plasma come from on the chromosomes
[0049] A control study was conducted with pre-morbid sample...
Embodiment 2
[0080] Embodiment 2 sample detection example
[0081] 1. Experimental sample:
[0082] The training group included 119 macrosomia samples and 378 healthy controls;
[0083] The validation group included 72 samples of macrosomia and 162 healthy controls.
[0084] According to the method operation of embodiment 1. Accuracy, sensitivity and specificity of statistical calculation methods.
[0085] 2. The results show that the method model of the present invention can effectively judge macrosomia pregnant women before the early onset in the training group and the verification group (table 4 and figure 2 ).
[0086] Table 4
[0087]
[0088] Among them, the calculation result example is as follows:
[0089] Sample 1 (pre-onset sample of diagnosed macrosomia):
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Abstract
The invention discloses a giant baby forecasting model based on peripheral blood free DNA detection. Through research, the inventor finds that the distribution situation of peripheral blood free DNA in a genetic transcription initiation site region can reflect the physiological status of a pregnant woman and a foetus, based on significant differences of serum free DNA abundance in the genetic transcription initiation site region between a giant baby pregnant women and a healthy pregnant women, the free DNA abundance is subjected to uniform calibration, a machine learning algorithm is used, andthrough preferable selection combination of different difference genes, effective forecast of pathogenesis of a giant baby can be realized. Therefore, the screening and forecasting model based on peripheral blood free DNA forecasting is constructed, an optimized target gene combination is constructed, forecast of pathogenesis of the giant baby can be realized before the giant baby was born, and arelatively non-invasive, economic and convenient early giant baby forecasting method is adopted, and has good application prospects in the respect of developing giant baby forecasting and screening products.
Description
technical field [0001] The invention belongs to the technical field of disease detection products. More specifically, it relates to a macrosomia prediction model based on the detection of cell-free DNA in peripheral blood. Background technique [0002] Clinically, within one hour after birth, newborns weighing greater than or equal to 4kg are macrosomia. With the continuous improvement of the economic level, the incidence of macrosomia worldwide is also increasing. About 7-12% of the babies of healthy mothers are diagnosed as macrosomia. For pregnant women with gestational diabetes, the occurrence of macrosomia The ratio is as high as 15-45%. Macrosomia has a series of adverse effects on mothers, including labor difficulties, uterine prolapse, birth canal laceration, postoperative infection, etc., especially dystocia caused by macrosomia may directly or indirectly lead to the death of mothers and newborns; in addition, The occurrence of macrosomia also has different degre...
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