Chromosome testing in the diagnosis of infertility

This is an automatically translated article.

The article was professionally consulted by Dr. Diem Thi Yen - Doctor of IVF Lab - Reproductive Support Center - Vinmec Times City International Hospital.
Genetic karyotyping, also known as chromosomal analysis, is an accurate method of finding certain genetic abnormalities. Accordingly, this method can be used to confirm or diagnose a genetic disorder in general, and syndromes capable of causing infertility in particular.

1. When to do a chromosomal test?

Chromosome testing is a high-end technique that requires modern machines and facilities as well as well-trained and experienced personnel to produce a decisively important result. Accordingly, the indication to perform chromosomal testing should be given by specialists. As such, this test for genetic abnormalities will usually be ordered in the following situations:
A couple is infertile , namely, unable to conceive naturally for more than one years without using any contraception. The wife has experienced two or more miscarriages, stillbirths in a row. The couple had a history of having an abnormal baby, with diseases related to chromosomal abnormalities. The husband has no sperm in the semen or the sperm count is extremely low during the semen analysis.

2. What is a chromosomal test?

Chromosome testing is similar to other common blood tests, with no special regulations to be noted before the time of specimen collection.
For couples who come for IVF, when there are factors that suggest the need for chromosomal testing, it must be done simultaneously for both husband and wife.
After blood collection, the specimen will be processed and analyzed in the laboratory. First, cells from the blood sample are grown in a specialized environment that encourages them to grow. Next, when cells reach a specific growth stage, they are extracted, stained, and studied under a microscope.
The cell nucleus in the proliferative phase will be very large in size. Chromosomes are colored with dyes to facilitate observation. The technician will take pictures of the entire set of chromosomes and put them into a computer system. The software will help identify and rearrange the sequence of each pair of two chromatids. Finally, by counting, observing and comparing the chromosome sets of normal people as well as patients with known genetic syndromes, the doctor will make a judgment.

3. Why is chromosomal testing necessary in fertility treatment?

Genetic testing is one of the steps in genetic counseling and diagnosis. Accordingly, this method can detect abnormalities on the parents' chromosomes, which are likely to be the cause of infertility or repeated miscarriages and stillbirths. again. Therefore, knowing the reasons why it is difficult to get pregnant or there is a risk of further miscarriage, will help the patient herself as well as help the doctor choose and propose intervention measures. Best card.
Also, another reason to have genetic testing before infertility treatment is to proactively avoid passing birth defects to the future baby. Because some chromosomal abnormalities can cause infertility when they appear in a man or a woman; however, if both parents have a chromosomal abnormality, they can pass on a more serious genetic abnormality and similarly for other congenital conditions.

4. The results of the chromosomal test in the diagnosis of infertility

While not exhaustive, the following are some of the common infertility potentials in congenital syndromes detected by spousal chromosomes:
Klinefelter syndrome Kallmann syndrome Y-chromosome Isolated Shift balanced chromosome segment CFTR gene mutation Addition or deletion mutations on the short or long arm of the chromosome.

5. What to do when the results of the chromosomal test are abnormal?

A couple who receive an abnormal result of a chromosomal test should not be too alarmed. Psychological insecurity, excessive stress will make a natural pregnancy more difficult to happen.
Instead, calm down and get tested. At reputable obstetric and assisted reproductive facilities to receive advice and appropriate treatment for each case. Currently, Vinmec Times City Center for HTSS has been conducting genetic diagnostic tests, including chromosomal analysis, and also accepting infertility cases with genetic abnormalities, such as Thalassemia, for example. treatment.
In summary, chromosomal testing is a common laboratory test in diagnosing the cause of infertility in both men and women. When pathologies that affect fertility are not found, this test will be the next step to take, to find genetic disorders, congenital diseases, and then plan support. fertility and pregnancy suitable for every couple.
Vinmec Reproductive Center is the leading modern center in Vietnam, built and applied a comprehensive medical examination and treatment process, combining both male and female obstetrics and gynecology to offer the optimal plan. for each patient case. Up to now, Vinmec IVF fertility center has provided fertility support to over 1000 infertile couples with a clinical pregnancy rate of over 40%. This rate is equivalent to developed countries such as UK, USA, Australia,...
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