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Background

Chromosome abnormality is an important genetic factor causing spontaneous abortion, birth defect, congenital genetic disease, infertility and other conditions.


Combining new generation high-throughput sequencing (NGS) and bioinformatic analysis, testing For Chromosome Abnormalities developed by Annoroad serves to perform whole genome sequencing on tissues from miscarriage/induced abortion during gestation period, fetal villus/umbilical cord blood, or subjects’ peripheral blood samples. The technique helps find possible genetic factors that result in spontaneous abortion, and identify causes of chromosome abnormality for people with abnormal childbearing history or suspected chromosome abnormality.


The test can cover 23 pairs of chromosomes, achieving as high as 0.1Mb precision. The whole process requires no cell culture or platform setup. Both its detection rate and specificity are above 99%.


Currently, Annoroad’s Testing For Chromosome Abnormalities is widely applied in the following three areas:

1. Chromosome abnormality detection for aborted tissues: Various types of aborted tissues are analyzed so as to help clinical doctors identify reasons for abortion and abnormal pregnancy;

2. Adult infertility: The detection helps determine the genetic factors of infertility for infertile couples;

3. Chromosome abnormalities of adults or children: The detection serves to analyze causes of chromosome abnormalities for children patients with developmental retardation, mental retardation and multiple malformations, and for their parents.


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Content of the test

The test comprehensively detects aneuploid abnormalities of 23 pairs of chromosomes; chromosome deletion or repeated mutation by over 0.1Mb; and chimera as low as 5%.


Chromosome abnormality and diseases

Chromosome abnormality affects multiple aspects of the organism. Generally, chromosomal diseases manifest the following clinical features:

1. Patients with chromosomal diseases usually have congenital multiple malformations, mental retardation and growth retardation. Some of them show special skin texture changes. 

2. Patients with sexual chromosomal abnormality present both the above-mentioned features and usually genital abnormality or congenital malformation, such as gonadal dysgenesis and accessory sexual gland agensis.

3. Miscarriage or stillbirth occurs to most embryos with chromosomal abnormality. Chromosomal abnormality is responsible for 50% to 60% miscarriages during early pregnancy. The earlier miscarriage occurs, the higher the frequency of chromosome abnormality for the aborted fetus.

4. For carriers with chromosome balanced translocation, their parental generations whose phenotype is normal are likely to pass their aberrant chromosomes on to offsprings, resulting in chromosome imbalance and diseases for the next generation.


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Occurrence rate of chromosomal disorder


 

            

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