Set of 8 genetic tests for congenital syndromes in the fetus

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.

Genetic testing for congenital syndromes in the fetus includes 8 small tests. This is an important technique in screening and early detection of fetal and neonatal diseases, thereby making the most appropriate intervention options.

There are 8 genetic tests for congenital syndromes in the fetus, which are:
Karyotype test – Chromosome set up; QF-PCR test; FISH test ; Down syndrome testing; Testing for Edwards Syndrome; Testing for Turner Syndrome; Uniparental Disomy 15 (UPD) Test - Prader Willi Syndrome and Angelman Syndrome; Genetic testing for DiGeorge Syndrome.

2.1 Karyotype Test - Chromosomes This is a test that examines the set of chromosomes in a cell. During the test, your doctor will culture cells in a special medium. After the appropriate time, cells were collected, stained by GTG (Giemsa trypsin G-banding) technique. Regarding the test sample, the doctor can use blood samples, umbilical cord, amniotic fluid, placenta, umbilical cord blood,...
After staining, the number and structure of chromosome pairs will be examined. under the microscope, analyzed, put into complete sets. The normal person will have 46 chromosomes, divided into 22 pairs and 1 pair of sex chromosomes. Each pair has a unique size, shape, and structure. As for abnormal results, the chromosomes will have abnormalities in structure, shape, size, number,...

Karyotype test is indicated for the following subjects:
People with suspected genetic disorders; Birth defects; Repeated miscarriage; Infertility - infertility; Mental retardation. 2.2 QF-PCR assay QF-PCR stands for quantitative fluorescence PCR. This is a PCR technique, which is used to check the dose of genes, such as the number of copies of a gene in a sample and the number of chromosome segments. Chromosomes commonly surveyed by QF-PCR are chromosomes 13, 18, 21, X, Y,...
Samples that can be used for QF-PCR are blood, placenta , amniotic fluid, umbilical cord and cord blood.
QF-PCR technique is indicated for prenatal diagnosis of chromosomal disorders for the following cases:
The fetus is at high risk of having Down syndrome; The fetus is at high risk of Turner syndrome; The fetus is at high risk of Edwards syndrome; The fetus is at high risk for Klinefelter syndrome.

2.3 FISH test FISH stands for fluorescence in situ hybridization - a technique used to detect the presence or absence of a specific DNA sequence at chromosomes .
The purpose of the FISH test is:
Searching for characteristics of DNA for diagnosis, genetic counseling, treatment and identification of chromosomal mutations, identification of species; Determination of mRNA in the evaluation of gene expression in cells as well as tissues. Samples used for FISH testing are blood, placenta, amniotic fluid, umbilical cord and cord blood.
The FISH test is often indicated for rapid prenatal diagnosis of chromosomal disorders in the following cases:
The fetus is at high risk of having Down syndrome; The fetus is at high risk of Turner syndrome; The fetus is at high risk of Edwards syndrome; The fetus is at high risk for Klinefelter syndrome. 2.4 Down syndrome test This is also one of eight very important genetic tests for congenital syndromes in the fetus. The test subjects are:
Children or adults with suspected Down syndrome; The fetus is at high risk for Down syndrome, detected through screening tests, or has risk factors such as the mother having had a baby with Down syndrome, the pregnant mother is older, the fetus has signs of Abnormalities detected by ultrasound.

Commonly used Down syndrome testing methods:
FISH test; QF-PCR test; Karyotype test. 2.5 Edwards syndrome testing Subjects assigned to Edwards syndrome testing are:
Suspected case of Edwards syndrome; The fetus is at high risk for Edwards syndrome, detected through screening tests, or has risk factors such as the mother having had a child with Down syndrome, the mother being older, the fetus having other signs and symptoms. Abnormalities detected by ultrasound. Commonly used methods of testing for Edwards syndrome:
FISH test; QF-PCR test; Karyotype test. 2.6 Testing for Turner syndrome The subjects assigned to be tested for Turner syndrome are:
Suspected case of Turner syndrome; The fetus is at high risk for Turner syndrome, detected through screening tests, or has increased risk factors such as the mother having had a child with Down syndrome, the mother being older, the fetus having other signs and symptoms. Abnormalities detected by ultrasound. The commonly used methods of testing for Turner syndrome are:
FISH test; QF-PCR test; Karyotype test.

2.7 Uniparental Disomy 15 (UPD) Test - Prader Willi Syndrome and Angelman Syndrome Normally, each person will inherit 1 chromosome from their mother and 1 chromosome from their father. In Uniparental Disomy 15 (UPD) cases, the patient received only 1 chromosome 15 or both chromosome 15 segments from the mother or father, the other did not give this chromosome segment to the child. If a patient receives a segment of chromosome 15 from his mother, he will have Prader-Willi syndrome, if a patient receives a segment of chromosome 15 from his father, he will have Angelman syndrome.
UPD test is indicated for the following cases:
Patients with suspected UPD, Angelman or Prader Willi syndrome; Pregnant women who have had a child with UPD need prenatal diagnosis. 2.8 Genetic testing for DiGeorge syndrome This is a syndrome where chromosome 22 is lost at position 22q11.2, causing birth defects. Patients may have heart defects, thymus defects, facial defects, brain problems, hearing defects, vision loss, short stature, poor kidney function, and possibly depression. , schizophrenia,...
Indication of genetic testing for DiGeorge syndrome for cases: Adults, children and fetuses suspected of having DiGeorge syndrome detected through clinical examination and diagnostic techniques diagnostic imaging,...
The 8 set of genetic tests for congenital syndromes in fetuses mentioned above are very important. When indicated, the patient needs to follow all the instructions of the doctor to get quick and accurate results, from which there is a way to intervene in a timely manner.
Genetic tests to diagnose congenital syndrome in the fetus are performed at Vinmec. In addition, to protect the health of pregnant women and babies during pregnancy, Vinmec International General Hospital provides a package of maternity services as a solution to help pregnant mothers feel secure because of the companionship of the team. doctors during pregnancy. When choosing Maternity Package, pregnant women can:
The pregnancy process is monitored by a team of highly qualified doctors Regular check-ups, early detection of abnormalities The package pregnancy helps to facilitate convenient for the birthing process Newborns get comprehensive care