[Local medical care]Don’t forget to do NIPT to avoid giving birth to a baby with Down’s syndrome

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Text: Chen Xiaoquan Arrangement: Liang Yingxiu

(Kuala Lumpur News) In 1866, a British doctor named John Langdon Down (John Langdon Down) found that the children with Down syndrome had some special features in the facial features and organs. Therefore, the doctor put these features one by one. It was recorded as a syndrome and named after the doctor, which is also the origin of the name of Down syndrome (Down syndrome).

After carefully studying the genes of children with Down syndrome, it was found that the 21st chromosome of Down syndrome was abnormal. In genetics, the cells in each of us have 23 pairs of chromosomes (46 chromosomes in total), one of which comes from the father and the other from the mother.

Most people have a pair of cells, but there are 3 chromosomes in the 21st chromosome in Down syndrome. This phenomenon will cause many congenital deformities in the patients, such as strange appearance, internal defect, slow development of IQ, etc.

NIPT Non-Invasive Screening

Pediatric consultant Dr. Chin Wai Seong pointed out that in terms of clinical diagnosis, doctors can make a preliminary diagnosis by observing the appearance of the patient, and then do a blood test for the patient to make the final diagnosis. Doctors can also know whether the fetus has Down syndrome through first trimester screening. Screening items include:

1. Blood test:Check the hormonal index of pregnant women, but the accuracy rate is not high.

2. Ultrasonic examination:Scan the thickness of the nuchal translucency of the fetus. Once the thickness exceeds 2.5mm, the doctor will suspect whether the fetus has Down syndrome.

3. Non-invasive prenatal genetic screening (Non-Invasive Prenatal Testing, NIPT):This screening test can detect a small amount of cell-free DNA in the mother’s blood, and accurately detect the abnormality of the fetus’ chromosomes, with extremely high accuracy. The price of NIPT is RM1,000 and above.

4. Amniocentesis:After the scan, the doctor will pass a long and thin needle through the pregnant woman’s belly, uterine wall, and then into the amniotic fluid cavity, and draw the required amniotic fluid for testing. Pregnant women can perform this test at the 15th week of pregnancy.

5. Chorionic Villus Sampling (CVS):This test uses a syringe to extract placental tissue for testing. Pregnant women can perform this test between the 10th and 13th weeks of pregnancy to diagnose whether the fetus has Down syndrome.

He said that obstetricians and gynecologists will recommend pregnant women to do the second or third screening, because these screenings are non-invasive, and pregnant women only need to draw blood or scan at the 10th week of pregnancy.

“In addition, the doctor will also explain the probability of conceiving a child with Down’s syndrome. Based on the price, it is still up to the couple to decide whether to do NIPT.”

“If a pregnant woman has a high chance of having a baby with Down’s syndrome, the doctor will also ask her to be mentally prepared and advise the pregnant woman to do a third or fourth test to confirm whether the fetus has Down’s syndrome.”

He pointed out that the fourth and fifth types are invasive prenatal examinations, which will increase the risk of miscarriage. Therefore, doctors will first perform NIPT for pregnant women and then consider the necessity of screening.

Chromosome 21 abnormality risk based on gestational age and gestational period:

Taking a 25-year-old woman as an example, the rate of conceiving a child with Down syndrome is 1/946;

35-year-old pregnant women have a Down’s syndrome rate of 1/249;

40-year-old pregnant women have a Down’s syndrome rate of 1/68,

From the text table, we know that older women have a higher chance of conceiving a Down syndrome child.

In addition, family history of Down syndrome also increases the risk of having a child with Down syndrome.

Skills in Occupational Therapy

For elderly mothers, he will suggest that pregnant women undergo relevant screening at the 10th week of pregnancy. If there is a high probability of Down’s syndrome, amniocentesis or CVS is required to confirm whether they are pregnant with Down’s syndrome, and then discuss with relatives Should the pregnancy continue.

Once it is confirmed that you are pregnant with Down syndrome, you have two options:

1. Accept it calmly and be mentally prepared to take care of children with Down syndrome.

2. Unacceptable, pregnant women can consider induced abortion, but it is still illegal in Malaysia, unless the pregnancy will cause psychological or physical harm, and the approval of two specialist doctors is required before abortion can be performed.

He pointed out that Down syndrome cannot be treated. Parents can only arrange early treatment or Early Intervention Program (Early Intervention Program, EIP) and special classes for children with Down syndrome to train them to complete daily activities independently.

In addition, parents should also let children with Down’s syndrome do occupational therapy (occupational therapies), so as to learn a skill and gain a foothold in society. In terms of IQ, it is also necessary to teach Down syndrome patients to have language skills so that they have the ability to communicate with others. This treatment is also called speech therapy.

In addition, it is also necessary to pay attention to which organs are defective in children with Down syndrome. If there is a hole in the heart, heart surgery may be required; thyroid problems require hormone medicine; eye disease patients need to wear glasses;

Children with Down’s syndrome also need sex education so that they understand their own body structure and teach them to protect their bodies from sexual harassment or rape.

patient appearance

Flat nose and eyes slanted upwards

The symptoms of Down syndrome can be divided into 3 parts, namely appearance, internal organs and IQ.

The appearance of the patient’s face will be somewhat strange, such as a flat nose, upward slanted eyes, abnormally shaped ears, low position, small head, flat back of the neck, protruding tongue, etc.

They were also obese, shorter, had shorter fingers or toes, had lower muscle tone, were prone to dislocations, and walked slower.

As for internal organs, children with Down’s syndrome are more likely to have eye problems; ear or congenital deafness, middle ear problems; congenital tooth loss rate is high, eruption is late; thyroid dysfunction; heart also has a 50% chance of congenital defects; Gastrointestinal obstruction.

Children with Down syndrome also have a weakened immune system and are prone to bacterial infections, including cancer cells. They are also more likely to develop dementia as adults.

low learning ability

In addition, children with Down’s syndrome have low IQ and poor learning and judgment skills, so they are prone to learning disabilities. IQ problems can also make children with Down’s syndrome prone to low self-esteem, being bullied, and looked down upon by others, and thus prone to mental illness.

Complications of Down Syndrome Depending on which diseases you have, if your eyes are affected, you are more likely to suffer from eye diseases, including myopia, flashes of light, glaucoma or cataracts; heart defects may cause heart failure; gastrointestinal problems are more likely Constipation; immune system problems are more likely to cause blood cancer; obesity can also bring a variety of sequelae to children with Down syndrome, such as unbalanced walking and easy falls.

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