Chromosome abnormality is an important genetic factor that causes spontaneous abortion, birth defect, congenital hereditary disease, infertility and other conditions. Most chromosomal abnormalities, especailly aneuploids result in spontaneous abortions or stillbirths. 50%-60% of early miscarriage is caused by chromosomal abnormalities.The earlier the abortion occurs, the higher chromosomal abnormalities incidence of of the aborted fetus. Patients with chromosomal disease usually have congenital multiple malformations, mental retardation and developmental delay. Some of them also have special skin texture changes.

Product introduction

     Combining new generation high-throughput sequencing (NGS) and bioinformatic analysis, Chromosome Abnormalities test 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. It can detect 23 pairs of chromosome aneuploidy, 300 kinds of common micro deletion/duplication syndromes and other larger than 100Kb chromosomal abnormalities at the same time. Therefore, it can identify the genetic factors that cause miscarriage, fetal and newborn malformations, organ dysplasias in children and infertility.

Detection content

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

2.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;

3.Chromosome abnormality detection for fetal:The detection helps determine the genetic factors that cause fetal malformations;

4. 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.

Intended for

• Couples with Recurrent Spontaneous Abortion who need to find out the causal genetic factor.

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• Fetal with abnormal chromosome-related malformations, such as intrauterine growth retardation, cardiac defects, facial dysmorphism.

• Child with organ dysplasias, mental retardation, autism, and other clinical features.

• Couples with a family history of chromosomal disease.

• Couples who have or had children with chromosomal disease.

Sample collection

Technical advantage

(1)high coverage

It can detect 23 pairs of chromosome aneuploidy, 300 kinds of common micro deletion/duplication syndromes and other larger than 100Kb chromosomal abnormalities at the same time

(2)high resolution

It can detect chromosomal deletions and duplications as small as 100Kb and mosaicism as low as 5%.

(3)high accuracy

The detection accuracy is above 99%

(4)automatic interpretation

Incorporated the international genetic diseases, the matched analysis software can automatically analyze and interprete the identified chromosomal abnormality.