Karyotype test – Chromosome sequencing in people with multiple miscarriages

This is an automatically translated article.

The article was professionally consulted with Specialist Doctor II Tran Thi Mai Huong - Obstetrician and Gynecologist - Department of Obstetrics and Gynecology - Vinmec Hai Phong International General Hospital.
Karyotype test, also known as chromosomal set-up or chromosomal analysis. This is a test that looks at a person's set of chromosomes in a cell. Karyotype testing is indicated in women with repeated miscarriages and in some other cases.

1. What is a Karyotype test?

Karyotype test, also known as chromosomal set-up, is a test that examines a person's chromosome set in a cell, to look for and detect abnormalities in the number of chromosomes such as polyploid, diploid, or chromosomal structure such as duplication, deletion, inversion, translocation, ...
Chromosomal abnormalities detected through Karyotype testing are associated with a number of Malignant blood diseases such as acute - chronic myeloid and lymphoid leukemia, myelodysplasia, multiple myeloma and some other genetic and infertility diseases.

2. In what cases is the Karyotype test indicated?

Karyotype test - Chromosome mapping is indicated for the following cases:
Women with infertility, infertility, recurrent miscarriages due to lack or excess of chromosomes. Pregnant women have stillbirth due to lack or excess of chromosomes in the fetus. Causes of birth defects and birth defects in children. Chromosomal abnormalities in adults are passed on to children. Determining the sex of the child in cases of suspected sex of the child by testing for Y-chromosome infection. Determining the appropriate treatment for certain cancers.

3. How is the Karyotype test done?

For women with recurrent miscarriages, the Karyotype test is indicated to look for abnormalities in the number of chromosomes. The sample taken can be blood from a vein, fetal cells, or bone marrow cells.
Blood sample: Taking blood from a vein is performed by a medical technician including the following steps: wrapping an elastic bandage in the arm, inserting a needle into the vein, and drawing blood. After taking a sufficient amount of blood to perform Karyotype test (2 - 4ml depending on the test purpose), remove the elastic bandage, place a cotton pad and cover it with a bandage. Fetal cell sample: The cell sample can be amniotic fluid or chorionic villus. Bone marrow cell sample: A bone marrow cell sample is obtained by means of a bone marrow biopsy. After collecting the samples for Karyotype testing, the assay technicians culture the cells in a special medium and harvest them after the appropriate time. Next, cell-specific staining was performed using GTG technique.
After the cell staining step, the test technician will use a microscope with a magnification of 1000 times to examine the number - structure of chromosome pairs and use specialized software to analyze the infection set. complete chromosomes.

4. Karyotype test results

The results of the Karyotype test will be available in about 1-2 weeks, which shows the number, size and shape of chromosomes in a cell.
Normal results: Normal results show that there are 46 chromosomes in the cell corresponding to 22 matched pairs of chromosomes and 1 pair of sex chromosomes. Each chromosome has a normal shape, size, and structure. Abnormal results: Abnormal Karyotype test results show fewer (deficient) or more (excess) 46 chromosomes. The chromosomes have an abnormal shape or size or structure. The Karyotype test is a chromosomal test done in people who have had multiple miscarriages to look for the chromosomal abnormality that caused the miscarriage.
Accordingly, in order to limit the occurrence of consecutive miscarriages, before preparing to become a mother, those who have a medical history, infertility, infertility, stillbirth, multiple miscarriages, chromosomal abnormalities , ... should learn carefully about medical knowledge, appropriate nutrition and perform tests to find out the cause, avoid the situation to continue in the next pregnancy Accordingly, you should do examination and diagnosis before planning a pregnancy at reputable medical facilities and hospitals for monitoring and advice.
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