Giving birth to the first healthy baby, pregnant with the second baby found abnormal, what should the mother do?

Unintentionally found pregnant with Jacobs syndrome

The first child was born healthy and handsome, but for peace of mind, TMH (30 years old, Cao Bang) was 9 weeks and 5 days pregnant for the second time, then she went to MEDLATEC General Hospital for examination.

Because this is the second check-up after knowing the good news, Ms. H was assigned by an obstetrician-gynecologist to do tests to monitor fetal growth and screen for fetal malformations.

The test results and fetal ultrasound were within normal limits, however, Ms. H was surprised to have NIPT test results that detected an abnormal number of sex chromosomes causing Jacobs syndrome (XYY). .

H’s NIPT test detected aneuploidies of 22 autosomes and sex chromosomes.

To confirm the diagnosis, Ms. H was consulted by a geneticist to do a definitive diagnostic test by amniocentesis to test the fetal chromosomes.

Then, Ms. H had amniocentesis for chromosomal analysis. Analytical test results showed that the fetus had an abnormal number of sex chromosomes (Jacobs syndrome). The analyzed signal matched the original NIPT screening test results. Therefore, it is concluded that the fetus has Jacobs syndrome (1 X chromosome, 2 Y chromosomes).

MSc.BSNT. Nguyen Ba Son – Genetics Specialist, MEDLATEC General Hospital said: XYY syndrome, also known as Jacobs syndrome (super male syndrome), is a condition in which a man has an extra chromosome in a pair of sex chromosomes. The Y body compared to the normal set of chromosomes is XY.

Male XYY syndrome is a rare chromosomal disorder that occurs in babies shortly after birth. The ratio of children with the syndrome is 1:1,000, meaning that on average, one in every thousand babies will be born with XYY syndrome. People with this syndrome often have no obvious symptoms and signs, and there is currently no treatment for this disease.

Putting aside the worry of fetal malformations, what should pregnant women do?

According to statistics of the Health sector, each year in Vietnam, there are about 1,400-1,800 children with Down syndrome (3 chromosomes 21); 1,000-1,500 children with neural tube defects and 2,200 children with Thalassemia (congenital hemolysis).

A healthy baby is the wish of all parents. (Illustration)

Birth defects in children are dangerous, but according to medical experts, these defects in children can be screened early in the fetus. Screening and diagnosing malformations before birth helps to detect and intervene in time so that babies are born with normal development, avoid consequences later, and contribute to improving the quality of the race and population.

With the experience of a geneticist, Dr. Son recommends that, in order to get rid of the constant worry of birth defects in the fetus, all pregnant women should perform screening tests for fetal malformations, even pregnant women who give birth. If the previous child was healthy, it should not be subjective (as in the case of Ms. H, for example), because these defects are always hidden and can only be detected through testing. Especially mothers with a family history of birth defects, over 35 years old; Using drugs or substances that can harm the fetus; Infection with the virus during pregnancy or exposure to or working in a radioactive environment.

The screening test is very important, since the accurate diagnosis results help the family feel secure about the baby’s health. In case of abnormality, the doctor will consult an in-depth examination before making decisions to intervene in the pregnancy, or the family will prepare mentally so there is no more surprise after giving birth, from which to plan. plan treatment and interventions to reduce symptoms at birth or in adulthood.

NIPT test – the solution to the problem called “dispelling worries about birth defects”

According to BSCKI. Duong Ngoc Van – Specializing in Obstetrics and Gynecology, MEDLATEC General Hospital, the most commonly applied methods of fetal malformation screening include fetal ultrasound, Double test, Triple test and NIPT test. In particular, NIPT (non-invasive prenatal testing) is the most modern screening test today, which is the first choice with outstanding advantages.

With only one blood draw from the mother from the 9th week, accurately detect abnormalities in the baby right in the fetus.

The first advantage is that the time to perform NIPT is very early (as early as the 9th week), while the test is often prescribed to perform later such as the Double test done at 11-13 weeks and 6 days and the Triple test performed when 15-20 weeks pregnant. Early testing is very important for timely intervention, thereby ensuring the safety of mother and baby.

The NIPT test has a very high accuracy of up to 99.8%, helping the mother to completely control abnormalities in the fetus such as Down syndrome (Trisomy 21) causing intellectual disability, delay mental development, movement, short stature, characteristic face; Edwards syndrome (Trisomy 18) is the cause of cleft palate, foot – hand – face deformity, heart and lung defects, fetal death or death after birth… Klinefelter syndrome, Turner, Triple X, Jacobs, Digeorge and up to 86 small chromosomal duplication/loss syndromes…

It is performed by taking maternal blood for analysis, so it is both simple and safe for the mother, without affecting the fetus like amniocentesis, biopsy or umbilical cord aspiration…

Especially in our country, the Ministry of Health issued Decision No. 1807/QD-BYT issued in 2020 to guide the inclusion of NIPT test in the process of screening for fetal malformations, screening for abnormalities in chromosomal counts. may be used during pregnancy for pregnant women as a first-line screening test or as an alternative to traditional biochemical screening tests, as appropriate.

With the guidance of the Ministry of Health and the advantages that the test brings, the NIPT test is considered as the solution to the problem called “all worries about fetal malformations” and has been used by thousands of pregnant mothers and sisters in the world. Childbearing age in the world and in the country whisper to each other, dispelling worries about the burden of birth defects in children.

Wishing to accompany pregnant mothers to make the pregnancy journey a miracle and complete peace of mind, MEDLATEC General Hospital serves NIPT testing on America’s leading modern machine system and is managed according to international standards ISO, CAP should always ensure accurate and reliable results.

Super attractive benefits when mothers perform NIPT test at MEDLATEC.

Carrying out the NIPT test at MEDLATEC, you can rest assured that you will be consulted by experienced experts and leading doctors specializing in Obstetrics and Gynecology. In particular, with a cost of only 3.2 million / package of NIPT tests, whether performed at home or at the hospital, pregnant mothers enjoy super attractive benefits such as:

– Postpartum insurance when false negatives are up to 200 million VND, 100% refund if false positives or no results…;

– Voucher “Basic Pregnancy Test Package” worth up to 400,000 VND;

– Voucher “ProSave Hidden Disease Gene Analysis Package” worth 1,299 thousand VND;

– Voucher “Newborn Screening Package” worth 499 thousand VND.;

– Along with many other attractive gifts for mothers and babies such as newborn hats, milk towels, pregnancy pillows, lovely gloves/legs…

For the health and future of your baby, for family happiness and to win many attractive gifts, pregnant mothers should quickly register for a test at https://medlatec.vn/dich-vu/xet-nghiem- nipt-sang-loc-truc-sinh-khong-xam-lan

For details, contact the hotline 1900 56 56 56 for information 24 hours a day.

Minh An