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Timeline for Discovery of Down Syndrome:
1838 |
Jean Esquirol provided the first description of a Down Syndrome child. |
1846 |
Another description of a patient who presumably had Down Syndrome was provided by Edward Seguin. He named it furfareceous idiocy. |
1866 |
Duncan noted a girl “with a small round head, Chinese looking eyes, projecting a large tongue who only knew a few words”. |
1866 |
John Langdon Down published a paper describing some of the characteristics of the syndrome that is coined after his name. He termed the condition “Mongolian idiocy”. |
1875 |
Mitchell presented an observation on 62 persons with Down Syndrome at a meeting in Edinburgh. |
1876 |
J Fraser and A Mitchell produced the first scientific report on Down Syndrome. The disease was named “Kalmuck idiocy”. |
1877 |
William Ireland included patients with Down Syndrome as a special case in his book, “Idiocy and Imbecility”. |
1886 |
G E Shuttleworth stated these children were unfinished and “their peculiar appearance was that of a phase of fetal period”. |
1896 |
Smith described the hand of a person with Down Syndrome, noting the incurved finger. |
Present |
Prenatal diagnosis methods developed, modern technology to identify Down Syndrome have been developed. |
A child with Down Syndrome can do everything like a normal child would do, just that they learn and do the same things much slower. Still, the Down Syndrome children differ widely in their mode of communication, motor developments, socialization and self-help skills.
Parents’ reactions to Down Syndrome babies
Some parents try to escape the overwhelming reality by hoping some test will prove the doctor is wrong and their child would be an exception. At the same time, parents may feel guilty for having such thoughts. These reactions to the crisis are quite normal. There also may be some misunderstanding among couples about the diagnosis of their baby.
People handle their feelings in different ways. Some do not react at all, while others express their feelings by crying out loud or feeling angry. Some people want to look for information, trying to convince themselves nothing is wrong by making telephone calls or search on the internet. Some people expect reaction from surrounding people, wanting them to express sadness or share ideas.
Prenatal Diagnosis – Diagnosis before the baby is born
- Fetoscopy
- Amniography
- X-Ray Examinations
Amniocentesis
Basic Information
- Performed during 14th-16th week of pregnancy
- In the mid 1950s, 3 major technical developments that made prenatal feasible were:
- Scientists became more knowledgeable in culturing human cell.
- Technique of chromosomal analysis increased.
- Safe and practical method of sampling amniotic fluid was developed.
Method
- Ultrasonography is used to locate the placenta
- A needle is inserted into the amniotic cavity and the amniotic fluid is aspirated.
- The fluid is then centrifuged and the fetal cells are obtained.
- Cells are cultured and later sent for chromosome analysis.
Chorionic virus sampling
Basic Information
- Performed during 8th -11th week of pregnancy.
- Developed during mid 1980s.
- Two types – transabdominal and transcervical
Advantages over Amniocentesis
- This can be done much earlier than amniocentesis.
- Studies can be made much earlier and results can be obtained much earlier.
Disadvantages
- There are slight risks to this procedure.
Ultrasonography
Basic Information
- Identify fetal malformations such as heart defects.
- Used by investigators to detect fetuses with Down Syndrome
Method
- Sound waves bounce back to show the form of baby.
- Thickness of the skin at the neck area or length of leg bone is measured.
- If thickness of skin exceeds a certain range, then the baby has Down Syndrome.
Maternal Alpha feto protein screening
Basic Information
- Initially used for diagnosing spina bifida
- May be performed during 14th – 22nd week of pregnancy, however it seems to be most accurate during 16th to 18th week.
- Recommended for women who:
- Have a family history of birth defects
- Are 35 years or older
- Used possible harmful medications or drugs during pregnancy.
- Have diabetes.
Method
- Blood is drawn from the mother’s arm.
- Lab analysis results are returned between one and two weeks.
Summary of the 4 Prenatal Diagnosis
Prenatal Diagnosis |
Basic Information |
Method |
Amniocentesis |
- Performed during 14-16 weeks of pregnancy
- In the 1950s, 3 major technological developments made prenatal diagnosis feasible. |
- Ultrasonography is used to locate the placenta
- A needle is inserted into the amniotic cavity and the amniotic fluid is aspirated.
- Fluid is centrifuged and the fetal cells are obtained
- Cells are cultured and later sent for chromosome analysis |
Chorionic Virus Sampling |
- Performed during 8 – 11 week of pregnancy
- Method was developed during mid 1980s
- Transabdominal and transcervical |
- Takes a sample of developing placenta that contains chorionic villi
- Ultrasonography |
Ultrasonography |
- Identify fetal malformations such as heart defects.
- Used by investigators to detect fetuses with Down Syndrome |
- Sound waves bounce back to show the form of baby.
- Thickness of the skin at the neck area or length of leg bone is measured. |
Maternal Alpha feto protein screening |
- Initially used for diagnosing spina bifida
- May be performed during 14th – 22nd week of pregnancy, however it seems to be most accurate during 16th to 18th week. |
- Blood is drawn from the mother’s arm.
- Lab analysis results are returned between one and two weeks. |
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