88 results about "Prenatal screening" patented technology

Methods for prenatal screening for trisomy 21 employ examination of the fronto-maxillary facial (FMF) angle of a fetus. In one embodiment, the methods comprise obtaining a two or three dimensional image of a fetal face, measuring the FMF_bone angle on the image, and comparing the measured FMF_bone angle with an FMF_bone angle characteristic of chromosomally normal fetuses, wherein a measured FMF_bone angle greater than the FMF_bone angle characteristic of chromosomally normal fetuses provides an indication of an increased likelihood of the occurrence of trisomy 21 in the fetus. In another embodiment, the methods comprise obtaining a two or three dimensional image of a fetal face, measuring the FMF_skin angle on the image, and comparing the measured FMF_skin angle with an FMF_skin angle characteristic of chromosomally normal fetuses, wherein a measured FMF_skin angle greater than the FMF_skin angle characteristic of chromosomally normal fetuses provides an indication of an increased likelihood of the occurrence of trisomy 21 in the fetus. In additional embodiments, both FMF_bone angle and FMF_skin angle are measured and compared with values characteristic of chromosomally normal fetuses.

The invention discloses a primer system which is used for simultaneously detecting 10 gene SNPs (single nucleotide polymorphisms) related to hereditary hearing loss. Based on a product prepared by using the primer system, the 10 gene SNPs related to the related to hereditary hearing loss can be simultaneously detected. The product can be used for detecting the gene types of 10 gene SNPs of a testee, and the detection results can be used as a reference to clinical diagnosis and also can be used in the fields, such as epidemiological investigation, prenatal screening and neonatal screening. According to the primer system, 10 gene SNPs on different genes can be simultaneously detected in one reaction system; and therefore compared with technologies, such as sequencing, real-time fluorogenic quantitative PCR (polymerase chain reaction), the primer system is lower in cost and simple and convenient to operate, and the accuracy and sensitivity are improved.

The present invention discloses a primer system for concurrently detecting 10 gene polymorphism sites related to genetic deafness. Based on the product prepared by the primer system, 10 gene polymorphism sites related to genetic deafness can be concurrently detected. Use of the product, genotypes of 10 gene polymorphism sites of a subject are detected, and the detection results can be used for assisted clinical diagnosis, and can further be used for epidemiological investigation, and can also be used for prenatal screening, neonate screening and other fields. With the present invention, 10 gene polymorphism sites on different genes can be concurrently detected in a reaction system, such that advantages of low cost, convenient operation, accuracy improvement and sensitivity improvement are provided compared with sequencing, real-time fluorescence quantitative PCR and other technologies.

The invention discloses a kit for multiplex real-time quantitative PCR (polymerase chain reaction) detection of chromosome aneuploid and application of the kit. The kit comprises n1 primer pairs used for amplifying multiple genes and non-genetic locus of a target chromosome and related probes and n2 primer pairs used for amplifying multiple genes and non-genetic locus of a reference chromosome and related probes, wherein the target chromosome is a chromosome subject to chromosome quantitative variation diseases, the reference chromosome is one or multiple chromosomes, and n1 and n2 are greater than or equal to 1 respectively. The kit can be used for noninvasive prenatal screening of Down's syndrome, Edward's syndrome, PaDow's syndrome and other chromosome abnormality diseases of pregnant women. The kit has the advantages of early stage, safety, noninvasiveness, accuracy, quickness and suitability for large-scale detection and clinical application, intrauterine infection, abortion and death of fetuses at middle and late stages of pregnancy of women can be avoided, and the objective of bearing and rearing better children is achieved.

The invention is the demonstration that mutations of the C7orf11 nucleic acid sequence leads to the development of non-photosensitive trichothiodystrophy. The invention comprises methods of screening for and detection of non-photosensitive TTD carriers, prenatal screening and diagnosis, diagnosis of non-photosensitive TTD, drug and gene therapy, manufacture of the protein, and antibodies as well as development of animal models of disease for the testing of pharmaceutical agents.

The invention discloses an alpha-thalassemia screening kit and application thereof in prenatal screening and belongs to the technical field of prenatal screening of alpha-thalassemia. The alpha-thalassemia screening kit comprises a negative control sample, a positive control sample, PCRmasterMIX, and a PCR primer. Application of the alpha-thalassemia screening kit includes: amplifying fetal DNA in maternal peripheral blood by the designed primer so as to perform prenatal screening on alpha-thalassemia. The maternal peripheral blood is collected for prenatal screening of alpha-thalassemia, with no need for puncturing the amnion cavity and inserting pile tissue and with no injury to fetus, and the alpha-thalassemia screening kit is safe and reliable; accuracy is up to 99.99%; the technical blank of noninvasive prenatal screening of alpha-thalassemia is filled, and fewer children with diseases are born.

The present invention relates to a method for screening maternal urine samples for changes in the pattern of mass spectral fingerprinting which have been found to be characteristic of fetal aneuploidies such as Down's Syndrome and have application for the screening of other fetal abnormalities and disorders of pregnancy including gestational trophoblastic diseases.

Fetal maternal samples taken from pregnant women include both maternal cell-free DNA and fetal cell-free DNA. Described herein are methods for determining a chromosomal abnormality of a test chromosome or a portion thereof in a fetus by analyzing a test maternal sample of a woman carrying said fetus, wherein the test maternal sample comprises fetal cell-free DNA and maternal cell-free DNA. The chromosomal abnormality can be, for example, aneuploidy or the presence of a microdeletion. In some embodiments, the chromosomal abnormality is determined by measuring a dosage of the test chromosome or portion thereof in the test maternal sample, measuring a fetal fraction of cell-free DNA in the test maternal sample, and determining an initial value of likelihood that the test chromosome or the portion thereof in the fetal cell-free DNA is abnormal based on the measured dosage, an expected dosage of the test chromosome or portion thereof, and the measured fetal fraction.

The invention relates to the field of noninvasive prenatal screening detection, in particular to a fetal chromosome library construction kit and method and application thereof.The kit includes a reagent for DNA extraction and a reagent for DNA library construction.Compared with other free DNA library construction kits in the markets at home and abroad, the fetal chromosome library construction kit can directly extract free DNA from the plasma of a pregnant woman to perform sequencing library construction, can completely and systematically achieve sample free DNA extraction and library construction, can be used for detecting whether fetal chromosomes are aneuploid or not through high-throughput noninvasive screening, is convenient to operate, simple, rapid, efficient and accurate in detection result and high in sensitivity and has an important value.

The invention relates to a quality control product, a preparation method thereof, a kit and a method for detecting trisomy 21 and 18 syndromes of fetuses. The digital PCR technology with single-molecule detection sensitivity and absolute quantitative capability is used, and a new simple and effective chromosome aneuploid non-invasive prenatal detection method is developed. By using peripheral blood of a pregnant woman, non-invasive prenatal detection can be completed on one sample within about 5 hours. By adopting the non-invasive prenatal detection technology based on the digital PCR, accurate, rapid and simple prenatal screening can be realized. The accuracy of the detection kit reaches 99%, the cost is only 1/5 that of the NIPT technology, and the detection time is 5 hours.

The invention discloses a beta-human chorionic gonadotrophin test kit (time-resolved fluoroimmunoassay) applicable for early-pregnancy and mid-pregnancy prenatal screening and a preparation method thereof. The kit comprises the following main components of an experimental buffer solution, a concentrated washing solution, an enhancement solution, a reaction plate, a standard product and a quality control product of filter paper dried blood spots and a europium marker. The method for preparing the kit according to the invention comprises the following steps of: 1. preparing the experimental buffer solution, the concentrated washing solution and the enhancement solution; 2. coating the reaction plate; 3. preparing the standard product and the quality control product; 4. preparing the europium marker; 5. separately loading; 6. sticking labels; and 7. assembling into a finished product. The invention has the characteristics that the accuracy and the sensitivity of a detected result are high, the stability is good, and a detecting method is economical, convenient and safe and has no traumatic property and the like. A filter paper dried blood spot technology is applied to prenatal screening work, which is beneficial to blood specimen collection, storage and transportation and ensures the experimental reliability.

The invention discloses a probe set and a kit used for detecting the related genes of a congenital cataract. The probe set comprises a plurality of probe sequences which respectively aim at the exon non-repeated areas of 225 related genes of the congenital cataract. The invention also provides the kit which contains the probe set and is used for regional capture and next generation sequencing. According to the probe set and the kit, the found 225 related genes of the congenital cataract can be comprehensively detected in one time, the coverage rate and the efficiency of molecular diagnosis can be improved, specificity is good, and sensitivity is high, and the probe set and the kit have an important meaning for the prenatal screening, the early diagnosis and the accurate prevention and control of the congenital cataract.

The invention discloses a method for prenatal screening chromosome abnormality and an application thereof. The invention comprises the following steps: totally calculating various measurement indicators of normal pregnant women in China to obtain the median of serum marker of single pregnancy people in each gestational week, the median of serum marker of double pregnancy people in each gestational week and the median of translucent thickness of fetal nape of normal pregnant women in each gestational week; detecting the serum marker, fetal number, translucent thickness of fetal nape of the detected pregnant women to determine the gestational weeks of the pregnant women; correcting according to the weight of the detected pregnant women and finally calculating the multiples of the median value (MoM value) of serum marker; then comparing correspondingly the multiples of the median of serum marker of the detected women with the median of serum marker of normal pregnant women according to the gestational weeks of the pregnant women and fetal number, calculating the likelihood ratio of the serum marker of the detected pregnant women to obtain the risk rates of 21 trisome, 18 trisome or 13 trisome and the risk rate of NTD risk.

The invention discloses a kit for non-invasive prenatal screening for trisomy syndrome and an application thereof. The kit of the present invention includes a primer pair and a probe for prenatal screening of trisomy 13 syndrome, a primer pair for prenatal screening of trisomy 18 syndrome, and a primer pair and a probe for prenatal screening of trisomy 21 syndrome. The invention also discloses a non-invasive prenatal screening method for trisomy syndrome. Compared with a second-generation sequencing method, the screening method has the advantages of low cost, short detection period, high detection sensitivity, convenience and absolute quantification.

The invention discloses a blood cfDNA (cell free DNA) preservative and a vacuum blood collection tube constituted by the blood cfDNA preservative, wherein the preservative consists of the following components in parts by weight: 1-200 parts of EDTA, 1-500 parts of imidazole, 1-200 parts of glyceraldehyde, 1-1000 parts of sodium chloride, 1-500 parts of guanidine hydrochloride, 1-1000 parts of SDSand 5000-7000 parts of purified water. The blood cfDNA vacuum blood collection tube is the vacuum blood collection tube containing the preservative. With the application of the blood cfDNA preservative provided by the invention, RNase enzyme activity can be effectively inhibited and free DNA in blood can be protected. The blood cfDNA vacuum blood collection tube is capable of inhibiting the RNaseenzyme activity and protecting the free DNA in the blood, and the vacuum blood collection tube is also capable of effectively immobilizing leukocyte and preventing the leukocyte from getting cracked,so that the circumstance that the free DNA is contaminated by the cracked leukocyte is prevented; the preservation duration of a blood sample at room temperature is effectively prolonged, and the vacuum blood collection tube is quite conducive to the long-distance transportation of a plasma sample; therefore, an effective preservation method is provided for collection, storage and transportation of tumor early screening samples or fetus prenatal screening and diagnosis samples.

The invention relates to a spray for the disinfection of a prenatal screening diagnosis center. The spray is prepared from the following components and pharmaceutically acceptable carriers: smilax, fructus broussonetiae, rhizoma anemones raddeanae, lantana camara, rhizoma zingiberis, bunge cherry seed, oroxylum indicum, white hyacinth bean, flos daturae, folium viticis negundo, campsis grandiflora, rhizoma osmundae, herba sidae rhombifoliae, fructus xanthii, folium eriobotryae, fructus tribuli, radix gentianae macrophyllae, justicia procumbens, manchurian lilac bark, hemsleya macrosperma, murraya jasminorage, rhizoma atractylodis macrocephalae, tangerine seed, herba lespedezae cuneatae, fructus galangae, rhizoma dioscoreae hypoglaucae, cortex ailanthi, the root of Chinese pulsatilla, chingma abutilon seed, thlaspi arvense, entada phaseoloides, common bombax flower, centipeda minima, celosia cristata, pubescent holly root, discolor cinquefoil herb, mung bean, nux prinsepiae, cacumen platycladi, peucedanum decursivum maxim, flatstem milkvetch seed, folium apocyni veneti, radix saposhnikoviae, Japanese ardisia herb, radix berberidis, radix polygonati officinalis and saffron. The spray for the disinfection of the prenatal screening diagnosis center provided by the invention has an obvious effect and is low in cost and very suitable for clinical large-scale application.

The invention discloses a method for correcting multiple of median of a serum marker in second-trimester prenatal screening. The method is characterized by comprising the following steps of: (1) acquiring related data, such as a serum marker detection result, weight and the like of a pregnant woman with age, gestational age and weight meeting the requirement; (2) determining the gestational age (day) based on gestational day; (3) determining the median of the serum marker of a normal pregnant woman group on each gestational day to obtain a regression formula of the median of the serum marker of the normal pregnant woman group relative to the day on each gestational day; (4) determining the multiple of the median of a detected pregnant woman; and (5) correcting the multiple of the median of the detected pregnant woman by using a weight regression formula. The method is applied to the gestational day-based prenatal screening established special for a Chinese pregnant woman group, and has the advantages of high detection ratio and low false positive.

The invention provides a method for detecting absolute copy number of fetal free DNA in maternal plasma on basis of digital PCR. The method for detecting the absolute copy number of the fetal free DNAin the maternal plasma on basis of the digital PCR comprises the following steps: obtaining total DNA from maternal peripheral plasma, and selecting gene locus sequences and internal reference gene sequences containing maternal-fetal methylation differences for designing primers and probes; carrying out methylation-sensitive restriction endonuclease digestion; and then, performing digital PCR amplification on the gene locus sequences and the internal reference gene sequences containing the maternal-fetal methylation differences in digital PCR apparatus, detecting fluorescent signals so as toobtain the absolute copy number of the fetal free DNA in the maternal plasma, and excluding false positive interference of maternal free DNA caused by incomplete enzyme digestion. The method for detecting the absolute copy number of the fetal free DNA in the maternal plasma on basis of the digital PCR combines a methylation-sensitive restriction endonuclease digestion-PCR means and a digital PCR platform, and utilizes maternal-fetal methylation difference genes as markers for detecting the absolute copy number of the fetal free DNA in the maternal plasma, so that the method is beneficial for accurately and quickly performing early non-invasive prenatal screening or prenatal diagnosis on pregnant women.

The invention provides an application of CDR1as to prenatal screening of neural tube defects, and a product and method for performing prenatal screening of neural tube defects, and relates to the technical field of clinical diagnosis. The invention provides an application of circRNA-CDR1as as a marker for prenatal screening of neural tube defects. Through research, the inventor finds out that the,circRNA-CDR1as is notably highly expressed in the tissue of NTDs child patients, the circRNA-CDR1as can be separately or can be united with other markers to be used for conventional screening of congenital malformation at the early pregnancy, and has great significance to families and society. According to the product and method for performing prenatal screening of neural tube defects, through detecting the expression number of the circRNA-CDR1as, NTDs is diagnosed, the detection cost is low, the detection is accurate and quick, and the NTDs can be diagnosed at the early pregnancy.

The invention discloses a soybean peroxidase immune biochip and application thereof to detection of serum marks during down syndrome prenatal screening. The application comprises the following steps: 1,preparing a soybean protein enzyme labelled antibody; 2, modifying a slide, namely performing hydroxylation, amino silanization and formylation on the surface of the slide; and 3, constructing a sandwich immune model on the surface of the biochip, namely covering the surface of the slide with the antibody, closing a non-specific active site, adding serum to be detected, performing incubation and washing, adding the enzyme labelled antibody, then performing incubation and washing again, adding a luminous substrate, and acquiring a luminous signal through CCD (charge coupled device) imaging. Four indexes, namely AFP (alpha fetoprotein), HCG (human chorionic gonadotropin), uE3 and PAPP (pregnancy associated plasma protein)-A, are selected as down syndrome serum marks. The SBP (soybean peroxidase) is wide in substrate working range, high in heat resistance, high in acid-alkaline stability and wide in pH adaptation range. An enhancer is added into a Luminol-H2O system, so that a chemical luminous signal can be amplified by nearly 100 times, and the detection sensitivity is improved.

The invention discloses a phenylketonuria (PKU) screening kit and application thereof to prenatal screening, and belongs to the technical field of PKU screening. The application method comprises the following steps of: (1) extracting free fetal DNA (Deoxyribonucleic Acid) from peripheral blood of pregnant women; (2) taking the fetal DNA as a template to carry out polymerase chain reaction (PCR) amplification; (3) detecting a PCR product through agarose gel electrophoresis and purifying the PCR product through enzyme reaction; (4) carrying out sequencing reaction on the purified PCR product; (5) purifying a PCR sequencing reaction product; (6) sequencing the purified PCR sequencing reaction product; and (7) comparing the sequencing result with positive and negative control samples. The kit has the beneficial effects that the kit can achieve automatic sequencing, thus shortening the screening time and enabling PKU screening to be simpler, more convenient and faster; the technical gap of prenatal PKU screening is filled; the birth rate of sick children is reduced; and the kit causes no trauma to the fetuses and is safe and reliable.