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How to screen for fetal trisomy

A trisomy, fetal technique for screening and identification of fetal trisomies, addressing issues such as time consuming, high false negative rates, lack of specificity and/or sensitivity

Active Publication Date: 2022-03-11
澳生企业有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

For example, many current tests are invasive, time-consuming, require a high degree of skill to perform, are not sufficiently specific and / or sensitive, have high false-negative rates, require isolation of maternal and fetal DNA or RNA, or require Retrieve Fetal Cells

Method used

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  • How to screen for fetal trisomy
  • How to screen for fetal trisomy
  • How to screen for fetal trisomy

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0299] Example 1 - Metabolic Group LC / MS Experimental Conditions

[0300] In an experiment, a set of trimetic 21 samples is distinguished from the control case group as described below.

[0301] Serum samples were selected from the uninteduted pregnancy and tri-body 21 infected pregnancy. According to the Folz (Folchjet) J Biol Chem. 226 (1): 497-509.) These serum samples were extracted into two copies. Serum (25 L) was added to 25 L of deionized water to extract 1 hour (minimum), and added 1000 μl of chloroform in a 1.5 ml glass tube having a polytetrafluoroethylene liner: methanol (2: 1, v / v), It was stirred vigorously in the first 10 minutes. This stage is added to the inner standard (deuterated (D4) blood-soluble phosphatidylcholine, 0.125 μg / sample, produced by Avanti Polar Lipids Inc.). 200 L of 0.1 m of potassium chloride solution was added and stirred vigorously for 5 minutes, and phase separation was produced, and centrifugally was separated. In the case where the d...

Embodiment 2

[0332] Example 2 Kit

[0333] Typically, a kit for the methods described herein include one or more standards, calibrators, reagents and instructions / method for from biological samples such as serum lipids extracted and / or analyzed.

[0334] It may include software, comprising a statistical method to predict the range of samples in uninfected or may be infected.

[0335] Samples were extracted in the presence of a plurality of generally standard, such as the stable isotopes and / or physiologic lipid (e.g., deuterated (d4) lysophosphatidyl choline, 0.125μg / 20uL serum samples from Avanti polar lipids Inc. Production ) case where the presence of a mixture thereof. Extraction may be carried out using stable isotope dilution method to determine the relative amounts of various types of lipids, and use of the herein Folch extraction (as described in Example 1) method.

[0336] Typically, compounds - which differ uninfected the presence of trisomy in both cases - can be quantitativ...

Embodiment 3

[0337] Example 3 based on the likelihood ratio trisomy 21 on risk assessment

[0338] By determining the likelihood ratio (LR) is calculated by the following algorithm of the form, thereby determining an increased risk of pregnancy:

[0339] LR = i [ln (MoM lipids i)] + j [ln (MoM lipid j)] + k [ln (MoM lipid k)] + ... n [ln (MoM lipids n)] + n + 1 [ln (n + 1MoM lipids n + 1)].

[0340] (Ages using published - risk formula, the possibility before (prior odds) usually comes from maternal age) LR can be used to revise the risk of age-related or as a single point of action.

[0341] One example, the use of such standardized discriminant analysis to generate canonical discriminant function coefficients -11.6 (lnMoM index#19 ) +9.931

[0342] (LnMoM index#26 ) -0.972 (lnMoM index#42 ) -0.191 (lnMoM index#43 ) -0.176 (lnMoM index#44 ) +4.524

[0343] (LnMoM index#45 ) +1.605 (lnMoM index#46 ) -1.777 (lnMoM index#175 ) +1.679 (lnMoM index#186 ) -2.12

[0344] (LnMoM index#195 ) + 0.669ln...

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PUM

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Abstract

The present disclosure relates to methods of screening for and identifying fetal trisomies. Particular embodiments of the present disclosure provide methods of screening for fetal trisomy in a pregnant female subject. The method comprises detecting one or more lipid markers from the subject, wherein the one or more lipid markers represent a risk of fetal trisomy in the subject; and based on the detected one or more lipid markers A marker for determining the risk of fetal trisomy in a pregnant female subject.

Description

[0001] Cross-reference related application [0002] The Application Serial No. 2015902036, the application number 2015902036, as well as the priority of the international patent application PCT / AU2015 / 050823, filed on December 21, 2015, and its contents are included in this article . Technical field [0003] The present disclosure relates to a method of screening and identifying a three-body trioxidant. Background technique [0004] Precultary screening is a routine examination in most developed countries. Pre-prenatal screening often includes neck-transparent layer ultrasound detection, testing parent blood to diagnose chromosome malformations and / or other malformations, fluffy velvet sample (CVS) to test multiple body and intellectual conditions, amniotic membrane and umbilical cord Phanes. In some cases, if pre-prenatal screening indicates an increase in the risk of abnormal fetus, the prenatal diagnostic test can also be used to better determine if the fetus may be affec...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G01N33/92G01N33/483
CPCG01N33/92G01N2800/387G01N33/689G01N33/483G16H10/40G01N33/6848
Inventor 恩佐·拉涅利史蒂文·拉姆齐彼得·查尔斯·凯蒙特·夏普珍妮丝·弗莱彻
Owner 澳生企业有限公司
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