Down’s Syndrome
What is the Role of 4D Scanning in Down’s Syndrome Screening
Down Syndrome– How Is It Diagnosed?
In Down’s Syndrome there is a manifestation of mental retardation and other physical problems.
The diagnosis of Down syndrome can be made while during pregnancy.
It is important in early detection of the condition in the child thereby a more time-effective preparation for the management of the baby once born.
Prevalence of this condition is estimated at 1 for every 800 pregnancies; the prevalence increasing with maternal age. The incidence is far steeper among pregnant women above 40.
The problems associated with its diagnosis cannot be prevented.
Proper treatment of the diagnosed complications in the baby however, needs to be laid out and carried out after birth.3D and 4D ultrasound offers a great help in the early detection of several important
abnormalities in the affected baby during or after screening of Down Syndrome.
Screening is vital in this usual abnormality which is seen in every 800 births.
Appropriate planning should be established even if the baby is still inside the mother’s womb.
Emotional Challenges in the Screening of Down’s Syndrome must be considered
It is important to take care of the emotional aspect it may deliver to the expectant parents as well.The time of screening can be extremely difficult for families. Health professionals are well trained and
recognize the importance of counseling and support. The process must never be rushed. At the same time the benefits, disadvantages and limitations of each screening method must fully considered. Fetal
ultrasound is increasing becoming critical in the initial assessment and screening for Down’s syndrome.
During the counselling families will get to know not only the techniques available but what their child might suffer if confirmed to have Down’s syndrome.
Mental and Physical Problems of Down’s Syndrome
The most significant in most peoples’ minds is the mental disability. This is variable between individuals and usually means care for life.
Several sequelae are noted among children borne with Down Syndrome, the commonest is in the form of cardiac anomalies.
This group of problems is seen in almost half of cases of DS.
Yet a significant of babies and adults with Down’s syndrome have pulmonary hypertension – which is very hard to treat.
In this problem, there is a severe injury in the lungs of the baby with resultant decrease in lung status.
Other common problems encountered in DS are hearing and visual impairment, problems in the thyroid gland, seizures, gastrointestinal abnormalities, weight problems, lung problems, low resistance to
infection, and malignancies in the blood.
Antenatal Screening and diagnostic tests Down’s Syndrome.
Prenatal Screening tests are primarily done because they are cost effective but they cannot guarantee accurate results.
The parents have the option to have undergo an invasive diagnostic test to confirm the result.
Targeted Screening for Down’s
It is common practice to advise expectant mothers who are 35 years old and over, whose screening tests are positive, or those with a family history of Down’s syndrome to have diagnostic test.
All pregnant mom have the option to go through a diagnostic test. This is based on the recommendations established by the American College of Obstetrics.
These test are known for their almost 100% accuracy.Disadvantage of the test is seen as raised incidence for miscarriage.
It is not easy to predict the quality of life for babies diagnosed with Down’s. Not all babies diagnosed of DS have a poor quality of life – some have minimal mental or physical impairments.
Role of Ultrasound in the screening of Down’s syndrome
These screening tests for DS are Nuchal Translucency Scan, Triple or Quadruple Screen, Integrated Screen, and Genetic Ultrasound.
The optimum period at maternity when Nuchal test is prescribed is by 11-14 weeks of being pregnant. The nape area of the fetus is being evaluated.The nuchal scan measurements are then combined with blood test results to estimate the risk.
Beyond 14 weeks, the next screening methods include the Triple Screen and Quadruple screen. In these tests, presence of markers in the mother’s blood are taken into account.
Quadruple screen gives a more reliable result of the two.Physical aspect of the fetus is assessed via the genetic ultrasound.
Genetic sonography is ideally scheduled by the 5th month of maternity. 4D ultrasound scanning is helpful by more accurately identifying the physical abnormalities the baby may have as a result of Down’s. Abnormalities such as talipes, heart problems, hand and finger malformations are far more easily seen and appreciated by the use of 3D ultrasound.This modality of fetal assessment is becoming increasingly commonplace in hospitals. It is no longer the preserve of the rich or keepsake facial scans.
There are several diagnostic tests available to determine Down’s Syndrome.
One of these tests get samples from the placenta, known as the Chorionic Villus Sampling.
This test is ideally performed during the 8th to 12th weeks of gestation.
There is however, an increased risk to miscarriage as a consequence of this test.
Two other tests which are less likely to cause miscarriage if compared to the former test are Amniocentesis and Percutaneous Umbilical Blood Sampling.
Percutaneous Umbilical Blood Sampling as the word implies, is performed using umbilical blood. Amniocentesis on the other hand is done using the amniotic fluids for testing.
Genetic sonography is ideally scheduled by the 5th month of maternity.4D ultrasound is helpful by more accurately identifying the physical abnormalities the baby may have as a result of Down’s. Abnormalities
such as talipes, heart problems, hand and finger malformations are far more easily seen and appreciated by the use of 3D ultrasound.This modality of fetal assessment is becoming increasingly commonplace in hospitals. It is no longer the preserve of the rich or keepsake facial scans.
