Recently, a couple came to the Prenatal Center of Shunde Women's and Children's Hospital of Guangdong Medical University for prenatal genetic counseling.
It is understood that the couple's last child successfully conceived twins through assisted reproduction. While the couple was happy, the results of the wife's prenatal screening for Down syndrome showed a high risk.
Unfortunately, the couple took a fluke and did not do further prenatal diagnostic screening, resulting in the diagnosis of one of the children as "Down's Baby" after birth. The family that had originally welcomed the joy of new life began to ask for help...
Today (21 March) is the 11th World Down Syndrome Day. This year's theme is "Valuing Down Screening and Nurturing Healthy Babies", which aims to raise awareness and attention to Down syndrome in the whole society. So, what is Down syndrome? What are the serious consequences of developing Down syndrome?
One minute to take you to "Down syndrome"
"Down syndrome", also known as "trisomy 21 syndrome", is the most common chromosomal disease caused by abnormal chromosome 21, and it is also the earliest chromosomal disease identified in humans. "Pediatric Down syndrome" occurs in live births of about 1:600-1:1000, accounting for 70% to 80% of pediatric chromosomal diseases.
Most pregnant mothers will have this question: I have given birth to a normal child, and I have no family history, how can I have a baby with Down syndrome? The answer is: every pregnant mother has the possibility of having a Down child.
Studies have shown that Down syndrome is related to the age of the mother, the expected age of pregnancy is greater than 35 years old, the risk of onset is significantly increased, and the aging of eggs of elderly mothers is an important reason for the non-separation of chromosome 21 meiosis.
Secondly, the monophilic dichotomys of exposure to teratogenic substances during pregnancy, the presence of chimeric trisomy 21-trisomy and maternal chromosome 21 are also the causes of trisomy 21.
If the baby has these manifestations
You have to pay attention!
"Down syndrome" is characterized by a special face, intellectual backwardness, and growth retardation, and can be accompanied by a variety of deformities. The severity of the clinical presentation varies with the percentage of abnormal karyotyping.
Tang's baby has an obvious special face when it is born, with sluggish expression, small cleft eyes, wide eye distance, oblique lateral side of the eye, and may have epicanthal folds, protruding eyeballs, low and flat nose bridge, small external ears, fat tongue, often sticking out of the mouth, salivating. The head circumference is small, rounded, the anterior fontanelle is large and delayed in closing, the neck is short and wide, and it is often drowsy and feeding difficulties. The neck is short and wide, and the skin around the neck is loose. Tang's baby's mental retardation becomes more and more obvious with age, and language, memory, abstract thinking, etc. will be damaged, and most of them need lifelong care from their families.
Image source: People's Medical Publishing House, Medical Genetics, 2nd edition
How is Down syndrome screened?
Let the expectant mother have a healthy baby
"Down syndrome screening" for short "Tang screening"
It is one of the must-do items for obstetric examination
The aim is to assess the risk of developing Down syndrome in the fetus
When should Down screening be done?
What should I see for screening reports?
For pregnant women with a due date of birth age of less than 35 years, no adverse maternal history, and no abnormalities in the chromosomes of both husband and wife, the concentrations of maternal peripheral blood test HCG and pregnancy-related protein A (PAPPA) were taken between 11 and 13 weeks and 6 days of pregnancy, and the concentrations of maternal peripheral blood test β-chorionic gonadotropin (β-HCG), alpha-fetoprotein (AFP), and free estradiol (FE3) were taken between 15 and 20 weeks and 6 days of pregnancy for mid-term Down screening.
About screening results
If screening results suggest low risk, follow-up with regular ultrasound monitoring, but low risk does not mean exclusion of Down syndrome;
If the screening results suggest a critical risk, it is recommended to draw the peripheral blood of the pregnant woman for noninvasive genetic screening, noninvasive genetic screening is not a confirmatory diagnosis, and interventional prenatal diagnosis is required if there is no abnormal result or subsequent ultrasound results;
Interventional prenatal diagnosis is recommended if screening results suggest high risk, and if prenatal diagnosis suggests that the fetus has trisomy 21, an informed option is given to terminate the pregnancy.
Since There is no cure for Down syndrome, pregnant women planning to become pregnant should avoid exposure to radioactive or chemical drugs, establish healthy lifestyle habits, keep a cheerful mood, and have regular obstetric check-ups after pregnancy.
As the only prenatal diagnosis center in Shunde District, Shunde Women's and Children's Hospital of Guangdong Medical University has been committed to providing prenatal consultation and prenatal diagnosis services for pregnant mothers for many years, hoping to provide professional advice to make expectant mothers have a healthy baby.
Extend your reading
Care for Baby Tang
(Source: Xinhua Net)
Written by | Prenatal Diagnosis Center Hou Qian
Edit | Zhang Qiuxian, Xin Ying
Editor| Lu Min
Audit | Wang Zhouyan