50 results about "Prenatal diagnosis" patented technology

The invention relates to the field of noninvasive prenatal diagnosis, and particularly discloses a preeclampsia noninvasive screening method based on deep sequencing 8bp oligonucleotide double-fragment characteristics, which comprises the following steps: collecting preeclampsia and healthy pregnant woman peripheral blood samples, and extracting free DNA for high-throughput sequencing; the method comprises the following steps: extracting core 8-mer sequences' GTGCGCCC 'and' GATGGGGT 'in a long fragment of 150-200bp through bioinformatics analysis; an integrated support vector machine, K-nearest neighbor, extreme gradient lifting, a random forest and a multi-layer perceptron are combined with a logistic regression element classifier to construct a stacking model, the frequency of a core sequence is normalized, machine learning analysis is carried out, and the preeclampsia risk is predicted. According to the invention, two 8bp oligonucleotide characteristic fragments are specifically screened, and a deep learning architecture of multi-model fusion is combined, so that the limitations of low specificity and invasive detection of a traditional screening method are effectively broken through.

The invention provides a calculation method and system for accurately identifying heterozygosity deficiency in antenatal diagnosis, and is applied to the technical field of medical data processing. According to the method, the bam file and the variation information are obtained through whole-genome library building and sequencing analysis and data processing. SNP sites are screened, allele mutation frequency is calculated, and effective sites are screened. Dividing a genome window, calculating a homozygous rate HR value, and constructing a nonlinear weight reference based on a normal sample; and finally, an improved CBS algorithm is combined with weight reference to identify a significant AOH section, a table containing position and HR mean information is generated, heterozygosity deletion identification is completed, extra CMA detection is not needed, and the method is accurate and efficient.

The invention discloses an STR (short tandem repeat) fluorescence labeling composite amplification system, the STR fluorescence labeling composite amplification system comprises 6 STR loci on a human chromosome 15, 12 STR loci on a human chromosome 20 and corresponding 36 primer pairs, and each primer pair carries a fluorescent dye marker. The kit can be used as an effective supplement of an existing kit, the false positive rate can be remarkably reduced, the detection accuracy and reliability are effectively improved, an important basis is provided for prenatal diagnosis and genetic disease detection, and the kit has important clinical application value and wide market prospects.

The invention relates to the technical field of prenatal diagnosis, in particular to a biomarker for early prediction of preeclampsia based on body fluid free DNA and application of the biomarker, and particularly relates to a biomarker for prediction or diagnosis of pregnancy diseases, especially preeclampsia, identified through a machine learning model based on a sample set. The biomarker can be eclampsia specific motif and related motif variation trend, so that early prediction of preeclampsia with low cost, high efficiency and high accuracy is realized.

The invention provides methods for determining aneuploidy and / or fetal fraction in maternal samples comprising fetal and maternal ctDNA by massively parallel sequencing. The method comprises a novel protocol for preparing sequencing libraries that unexpectedly improves the quality of library DNA while expediting the process of analysis of samples for prenatal diagnoses.

The application belongs to the technical field of biology, and specifically discloses a truncated mutant of ANKRD11 and application thereof. The ANKRD11 gene mutant is any one of the following: a nucleic acid, wherein the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 1910 to No. 1913 are deleted; a polypeptide, wherein the polypeptide has a p.K637Tfs*15 mutation compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutant in screening of a KBG syndrome risk population. In the present disclosure, the pathogenic gene spectrum of the KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The application provides a calculation method and system for accurately identifying loss of heterozygosity in prenatal diagnosis, and is applied to the technical field of medical data processing. Bam files and variation information are obtained through whole genome library construction and sequencing analysis through data processing. SNP sites are screened, allele mutation frequency is calculated, and effective sites are screened. The genome window is divided, the homozygosity rate HR value is calculated, and the nonlinear weight reference is constructed based on normal samples. Finally, the improved CBS algorithm is used to identify significant AOH segments combined with the weight reference, generate a table containing position and HR average information, complete the identification of loss of heterozygosity, and do not need additional CMA detection, which is accurate and efficient.

The invention belongs to the technical field of noninvasive prenatal examination, and particularly relates to a preparation method of a pregnant woman simulated plasma standard substance capable of enriching fetal concentration through fragment size. The invention provides a preparation method of a pregnant woman plasma free DNA simulation sample, which is combined with a specific DNA fragmentation treatment technology to prepare the simulation sample which has high fidelity and stability and can accurately simulate the distribution proportion of fetal free DNA and pregnant woman free DNA in real pregnant woman plasma, and is used for quality control and evaluation of a noninvasive prenatal diagnosis technology. According to the method, the pregnant woman simulated plasma DNA with the corresponding fetal concentration can be accurately prepared according to requirements, the prepared pregnant woman simulated plasma can meet the application requirements of fetal concentration enrichment testing, and meanwhile the distribution condition of cfDNA fragments in the pregnant woman plasma is reduced to the maximum extent.

The invention belongs to the field of biological detection, and particularly relates to a blood treating fluid and a method for performing karyotype analysis by using the treating fluid. The treating fluid prepared by the invention comprises a treating fluid A and a treating fluid B. The treating fluid can be used for treating umbilical cord blood of a fetus at the early pregnancy stage, so that the interference of red blood cells can be reduced, and rapid proliferation of lymphocytes can be induced. The umbilical cord blood treated by the treatment liquid is subjected to chromosome karyotype analysis, can be refined into number abnormality or structure abnormality typing, and has important significance for clinical prenatal diagnosis.

The application belongs to the technical field of gene diagnosis, and specifically discloses a PHEX gene mutant and application thereof. The application mainly relates to the PHEX gene mutant and application thereof, and specifically relates to application of a PHEX c.112_113insA mutation in screening of a product of X-linked hypophosphatemic rickets resistant to vitamin D. The disclosure widens the pathogenic gene spectrum of X-linked hypophosphatemic rickets resistant to vitamin D, strengthens the understanding of the disease by clinical doctors, provides experience for screening and diagnosis of the disease in the clinic, and also provides a basis for prenatal diagnosis.

A method for detecting chromosome aneuploidy of a fetus on the basis of synthetic data, and a computer-readable medium for recording a program applied to perform the method are provided. According to exemplary embodiments, non-invasive prenatal diagnosis of chromosome aneuploidy in a fetus can be performed with excellent sensitivity and specificity.

This invention belongs to the field of biotechnology, specifically disclosing novel mutations of ANKRD11 and their applications. The ANKRD11 gene mutation can be any of the following: a nucleic acid having a target fragment, wherein the target fragment has a G repeat at position 4708 compared to the wild-type ANKRD11 gene with sequence SEQ ID NO.1; or a polypeptide having the p.E1570Gfs*71 mutation compared to the wild-type protein encoded by the ANKRD11 gene with sequence SEQ ID NO.2. The invention also relates to the application of reagents for detecting the aforementioned ANKRD11 gene mutation in screening individuals at risk for KBG syndrome. This disclosure broadens the pathogenic gene spectrum of KBG syndrome, enhances the understanding of the disease, provides experience for clinical screening and diagnosis of the disease, and also provides a basis for prenatal diagnosis.

The application relates to circular RNA diagnostic markers for placenta implantation lineage diagnosis and application thereof. The circular RNA diagnostic markers comprise one or two of circPHACTR4 and circZMYM4, and the cDNA sequences of the circPHACTR4 and the circZMYM4 are respectively shown as SEQ ID NO: 1 and SEQ ID NO: 2. The two circular RNA diagnostic markers are significantly up-regulated in PAS peripheral blood, and can be used as PAS diagnostic markers alone or in combination to realize high-sensitivity, specificity and objective detection of placenta implantation lineage. The sensitivity of circPHACTR4 alone is 74%, the sensitivity of circZMYM4 alone is 68.4%, the two circRNAs are combined to have a good prediction effect on PAS, and the sensitivity and specificity can reach 82% and 88.9% in combination with the diagnosis results of clinical indexes and B ultrasonic waves, so that the precision of the prenatal diagnosis of PAS is greatly improved.

The invention belongs to the technical field of gene diagnosis, and discloses an SLC16A2 gene mutant and application of the SLC16A2 gene mutant in AHDS disease risk analysis. The specifically disclosed SLC16A2 gene mutant is any one of nucleic acid, a target fragment exists in the nucleic acid, and compared with a wild type SLC16A2 gene with the sequence of SEQ ID NO.1, the target fragment has c.963964delinsAA mutation, and the target fragment has c.963964delinsAA mutation. Compared with a protein coded by a wild type SLC16A2 gene with a sequence of SEQ ID NO.2, the polypeptide has p.Y321 * mutation. Meanwhile, the invention discloses application of a reagent for detecting the SLC16A2 gene mutant in preparation of a product for screening AHDS. According to the invention, the pathogenic gene spectrum of the AHDS is expanded, the cognition of a clinician on the disease is improved, experience is accumulated for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The invention discloses a rapid free DNA enrichment method based on a paramagnetic particle method, which comprises the following steps: (1) taking plasma, adding a protease K solution, fully and uniformly mixing, and incubating; (2) adding the magnetic beads and the binding liquid, oscillating, instantaneously centrifuging and standing until the magnetic beads are completely adhered to the wall; (3) absorbing and abandoning all supernatant; (4) adding an eluent, oscillating, instantaneously centrifuging, continuously placing on the magnetic frame, and standing for 5 minutes until the magnetic beads are completely adhered to the wall; and (5) taking the supernatant, and transferring the supernatant into a sample storage tube for enrichment. According to the method, the DNA purity is high, a QSep result shows that no impurity peak interference exists, the feasibility of the method is proved, and the corresponding magnetic beads carrying positive charges can be used for extraction of the method, so that the method has relatively high practicability. A high-quality template can be provided for downstream molecule detection and analysis (including NGS sequencing, digital PCR and the like), and particularly, important values are shown in clinical application scenes such as liquid biopsy and antenatal diagnosis.

The invention provides methods for determining aneuploidy and / or fetal fraction in maternal samples comprising fetal and maternal cfDNA by massively parallel sequencing. The method comprises a novel protocol for preparing sequencing libraries that unexpectedly improves the quality of library DNA while expediting the process of analysis of samples for prenatal diagnoses.

The invention relates to a Z value correction method for NIPT inspection. The method comprises the following steps: acquiring an NIPT test sample set, a normal diploid reference sample set and an interventional prenatal diagnosis data set of the NIPT test sample set; establishing an NIPT test misdiagnosis sample set based on the NIPT test sample set and the interventional antenatal diagnosis data set; obtaining free DNA sequencing data of the NIPT test misdiagnosis sample set and the normal diploid reference sample set; identifying a DNA sequence vigilance Z value region and a DNA sequence effective Z value contribution region based on free DNA sequencing data of the NIPT test misdiagnosis sample set and the normal diploid reference sample set; and performing Z value correction based on the data feature information of the free DNA sequencing data of the DNA sequence vigilance Z value region of the NIPT test misdiagnosis sample set and the normal diploid reference sample set, and generating Z value correction result information. By adopting the method, the accuracy and reliability of NIPT detection can be effectively improved, and the positive predicted value of NIPT detection is improved.

The invention provides a method and a device for detecting a fetal triploid based on CNVSeq. The method comprises the following steps: respectively preprocessing CNVSeq sequencing data of a negative sample and a sample to be detected to obtain first preprocessed data and second preprocessed data; respectively calculating the autosomal fetal concentration FFsnps and the sex chromosome fetal concentration FFsex of the negative sample and the to-be-detected sample and the fetal chromosome average copy number of the to-be-detected sample by using the first preprocessed data and the second preprocessed data; judging whether the to-be-detected sample is a triploid or not according to the first autosomal fetal concentration FFsnps, the first sex chromosome fetal concentration FFsex and the average copy number of fetal chromosomes; wherein the sample to be detected is a prenatal diagnosis sample. The result obtained by judging according to the parameters is more accurate, misjudgment possibly caused by a single index is avoided, the detection cost can be reduced, and the experimental period of triploid detection can be shortened.

The invention relates to a method and a kit for generating nucleic acid for target capture. The method involves binding of a circ-olio sequence to at least one target oligonucleotide to generate a single stranded circular DNA. The single stranded circular DNA is bidirectionally amplified with the sense and antisense oligonucleotides, followed by biotinylation to obtain for a double-stranded concatemer of linear sequence. The double-stranded concatemer of linear sequence with the restriction endonucleases produces a target capture nucleic acid. The method offers a scalable targeted capture of pr eselected genomic regions, and is cost effective. The method of generating nucleic acid for target capture has application in the field of oncology hematology, inherited malignancies, germline disorders, microbiology and prenatal diagnosis. The invention generates baits over high GC-rich regions of the genome.

The application belongs to the technical field of gene detection and molecular diagnosis, and particularly relates to a kit for detecting a pathogenic gene of phenylketonuria and application thereof. The kit comprises a primer pair for amplifying specific exons and splicing regions of a phenylalanine hydroxylase gene, and specific probes for detecting hot spot mutations and deletion / repetition variations of the gene. The application can detect genetic variations related to phenylketonuria in one time, quickly and accurately by combining optimized multiplex polymerase chain reaction with high-throughput sequencing or gene chip technology, and covers various known hot spot mutations and copy number variations including c.1222C>T, c.1068-11G>A, c.728G>A and c.1162G>A. The kit has high detection sensitivity and strong specificity, and is suitable for positive recall diagnosis of neonatal phenylketonuria screening, genetic diagnosis of suspected patients, carrier screening and prenatal diagnosis, and provides an efficient tool for precise prevention and control of phenylketonuria.

The invention belongs to the technical field of gene diagnosis, and particularly discloses SLC16A2 and PHEX gene mutants and application thereof. On one hand, the invention relates to an SLC16A2 gene mutant and an application thereof, in particular to an application of SLC16A2c. 963964deinsAA mutation in a product for screening the Allan-Herdon-Dudley syndrome, and in particular relates to an application of SLC16A2c. 963964deinsAA mutation in a product for screening the Allan-Herdon-Dudley syndrome. On the other hand, the invention relates to a PHEX gene mutant and application thereof, in particular to application of PHEX c.112113insA mutation in products for screening X-linked hypophosphatemia vitamin D rickets. According to the invention, the pathogenic gene spectrum of Allan-Herdon-Dudley syndrome and X-linked hypophosphate vitamin D-resistant rickets is broadened, the understanding of clinical doctors on the disease is enhanced, experience is provided for clinical screening and diagnosis of the disease, and a basis is also provided for prenatal diagnosis.

Prenatal genetic testing allows early detection of genetic disease in a fetus. Described herein are methods of detecting the presence or absence of a genetic variant in a region of interest in the genome of a fetus in a pregnant woman. The methods are noninvasive, and can use cell-free DNA (cfDNA) present in the plasma of the pregnant woman. A DNA library is constructed from the cfDNA, and DNA molecules comprising the region of interest or portions thereof are enriched and analyzed, for example by sequencing. The methods described herein can also rely on constructing a maternal haplotype to provide even higher resolution fetal genetic variant determination.

The present invention concerns the field of diagnostic assays for prenatal diagnosis of preeclampsia. In particular, it relates to a method for diagnosing whether a pregnant subject is not at risk for preeclampsia within a short window of time comprising a) determining the amount of at least one angiogenesis biomarker selected from the group consisting of sFlt-1, Endoglin and PlGF in a sample of said subject, and b) comparing the amount with a reference, whereby a subject being not at risk for developing preeclampsia within a short period of time is diagnosed if the amount is identical or decreased compared to the reference in the cases of sFlt-1 and Endoglin and identical or increased in the case of PlGF, wherein said reference allows for making the diagnosis with a negative predictive value of at least about 98%. Further contemplates are devices and kits for carrying out said method.

The utility model belongs to the field of ultrasonic imaging equipment, particularly relates to a fixing device for an amniotic fluid puncture needle for antenatal diagnosis, and aims to solve the problems that the position of an existing clamping seat is fixed, and the angle of the clamping seat is inconvenient to adjust, so that the clamping seat is inconvenient to adjust in the puncture process. In order to solve the problems that the puncture angle of a puncture needle is inconvenient to adjust by medical staff according to actual diagnosis conditions, large puncture errors exist, and potential safety hazards are caused, the following scheme is provided, the puncture needle fixing device comprises a fixing mechanism, and the fixing mechanism is arranged on a second fixing block and used for clamping and fixing the puncture needle; the adjusting mechanism is arranged on the fixing support and used for adjusting the angle of the fixing mechanism. When the puncture needle is used, the angle of the puncture needle can be conveniently and accurately adjusted, the situation that in the puncture process, medical staff cannot conveniently adjust the puncture angle of the puncture needle according to the actual diagnosis situation is avoided, the situation that large puncture errors exist in the puncture process, potential safety hazards are caused is avoided, and the using effect is improved.

The application belongs to the technical field of gene diagnosis, and discloses a new pathogenic gene CYLC1 of sperm head deformity and a mutation detection reagent thereof; the new pathogenic gene CYLC1 of sperm head deformity is used as a candidate gene diagnosis object of sperm head deformity, and four homozygous missense mutations thereof are c.1157A>C / p.N386T, c.1377G>T / p.K459N, c.1402T>G / p.S468A and c.1834T>A / p.C612S. The application can use the detection reagent to perform simple, fast and accurate gene diagnosis on sperm head deformity patients, and is also helpful for understanding pathogenesis, genetic counseling, prenatal diagnosis and gene therapy. The application can also use the established Cylc1 gene knockout mouse model to reveal the role and mechanism of Calicin-1 protein on sperm acrosome anchoring and head development of mammals.

The invention relates to the technical field of seedling cultivation, in particular to an abdomen protection device for antenatal diagnos.The abdomen protection device comprises a positioning sliding base, movable sliding blocks are slidably installed at the left end and the right end of the front side of the positioning sliding base respectively, a swing clamping block is rotatably installed at the front end of each movable sliding block, and an adjusting sliding plate is installed on each swing clamping block; an inserting buckle is installed at the front end of each adjusting sliding plate, a protection band is installed between the two inserting buckles, an adjusting box is installed on the protection band, and a fetal heart monitor is detachably installed in the adjusting box. The fetal heart monitor monitors the heartbeat frequency of a fetus, helps to evaluate the health condition of the fetus in the uterus and can also reflect whether the fetus is hypoxia or not and whether intrauterine distress exists or not, and due to the fact that the protective cotton cloth is arranged on the outer side face of the protective band, the pressure on the abdomen can be relieved, and the protection effect on the abdomen is achieved.

The invention discloses a prenatal diagnosis genetic nursing system based on big data. The prenatal diagnosis genetic nursing system comprises a data acquisition module, a data expansion module, a genetic nursing community construction module, a community optimization module and a genetic nursing scheme generation module. The invention relates to the technical field of genetic nursing, in particular to an antenatal diagnosis genetic nursing system based on big data, according to the scheme, data expansion is carried out by designing a data expansion model architecture, designing a loss function and carrying out model comprehensive training, and the effect and quality of data expansion are improved; a genetic nursing community is constructed by creating an initial gravitational graph, calculating the correlation degree and designing a community adjustment factor, so that the accuracy, stability, flexibility and adaptability of community division are improved; high-quality community parameters are searched by defining a community quality evaluation function, performing dynamic evolution search, designing a reset strategy and designing a search rule, so that the flexibility and the adaptability of a search process are enhanced, and the stability and the reliability of an optimization result are ensured.

The invention discloses a gene detection method, a kit and medication guidance for evaluating folic acid metabolism capability. The gene detection method comprises the following steps: amplifying primers of MTHFR C677T, MTHFR A1298C, MTRR A66G and MTR A2756G sites; by adopting a Sanger sequencing technology, the kit can be used for rapidly detecting mutation conditions of MTHFR C677T, MTHFR A1298C, MTRR A66G and MTR A2756G sites in the body of a folic acid metabolism disorder patient, so that the folic acid metabolism capability of a sample is accurately evaluated, and an accurate basis is provided for personalized folic acid supplement. The invention provides a method and a kit for efficiently and accurately detecting gene locus mutation of MTHFR C677T, MTHFR A1298C, MTRR A66G and MTR A2756G, is suitable for early diagnosis and intervention of folate metabolism disorders, and has important reference significance for early intervention, early treatment and prenatal diagnosis.

The present invention discloses a STR fluorescence-labeled multiplex amplification system, which includes 6 STR loci on human chromosome 15, 12 STR loci on human chromosome 20, and corresponding 36 primer pairs, and each primer pair carries a fluorescent dye label. The present invention can serve as an effective supplement to existing kits, can significantly reduce the false positive rate, effectively improve the accuracy and reliability of detection, provide an important basis for prenatal diagnosis and genetic disease detection, and has important clinical application value and broad market prospects.

The invention discloses a clinical antenatal diagnosis and examination system for the obstetrics department, and particularly relates to the field of medical treatment. Comprising a server, an information acquisition module, a data acquisition module, an evaluation module, an artificial intelligence auxiliary diagnosis module, an alarm module, a report generation module, a remote monitoring and consultation module, a personalized health management plan module, a genetic disease risk evaluation module, a virtual reality education module and an emotion monitoring and psychological support module. The system facilitates remote monitoring and consultation, facilitates prenatal examination of pregnant women at home, relieves hospital pressure, improves service efficiency, simulates a scene through a virtual reality technology to help the pregnant women to understand prenatal and postnatal related knowledge, helps the pregnant women to better understand the prenatal and postnatal related knowledge and relieve anxiety mood, and is combined with a VR technology to make the pregnant women more interesting. Immersive education experience is provided, the education effect is improved, the sense of participation and satisfaction of the pregnant woman are enhanced, timely emotion monitoring and psychological support are provided, and anxiety and pressure during pregnancy can be relieved.