What is pre-natal diagnosis ?
Up to 3-4 of every 100 babies are born with a major congenital abnormality. A larger number may be born with less severe congenital problems. Many of these abnormalities are associated with chromosomal or genetic problems, which may run in families. With advances in medical science, it is possible to predict many of these conditions before the pregnancy or detect most of these conditions inside mother’s uterus. This is done by using advanced ultrasound techniques and / or taking out fetal cells from the pregnant mother’s uterus by a fetal medicine specialist.
Why Pre-natal Diagnosis is important ?
Congenital or chromosomally abnormal children are serious handicaps for the family and for the society. As the mother’s age of 1st pregnancy is increasing in our country, the incidence of these problems are on the rise. As the families are getting more and more nuclear, society can least afford many sufferers of conditions like this. As the experience in developed countries showed, with a proper system of prenatal (before birth) diagnosis, it is possible to significantly reduce the incidence of these conditions to the benefit of the society
What is Down syndrome?
Down syndrome is a life-long condition that causes delays in learning and development, and can cause certain medical problems such as heart problems. It is a variable condition in that some people are more seriously affected than others.
Some adults are able to get jobs and live fairly independent lives; however, most people do need long-term help and support. The life expectancy of a person with Down syndrome is 60-65 years, although many live longer.
Chromosomes are present in almost all human cells and store our genetic information. People usually have 46 chromosomes in each cell, but occasionally extra copies of chromosomes can be present, as is the case in Down syndrome.
Down syndrome is caused by an extra copy of chromosome 21. That is why it is sometimes called trisomy 21: trisomy means 3 copies of a chromosome. For every 1,000 babies born, one will have Down syndrome. Anyone can have a baby with Down syndrome, but we do know that the chances of having a baby with Down syndrome increases as women get older.
Is Diagnosis of problems like Downs Syndrome possible before birth of baby ?
The starting point of diagnosis of Downs Syndrome is a simple assessment of the mother as early as 3rd month of pregnancy by a blood test to measure the levels of certain pregnancy hormones in the mother’s blood (The Double Marker Test). At the same time, a further review of the baby through an ultrasonography examination is done (The Nuchal Translucency Scan), which assesses the fluid at the back of the baby’s neck All babies will have some fluid here, but in babies with Downs syndrome the fluid tends to be increased.
The most accurate way of estimating the risk is by combining the information from mother’s age, nuchal scan & double marker test in an internationally patented software ( Perkin Elmer System) to detect up about 90% of the babies with Downs syndrome & other Chromosomal Disorders.
Is Diagnosis of problems like Thalassemia possible before birth of baby ?
Conditions like Thalassemia is a major health problem in our society with about 10000 thalassemic children are born every year. More than 1:25 people are carriers of thalasemia gene in our city. If a child is born between two carrier parent, there is 25 % chance of that child being a sufferer of thalesemia. Thalassemia is major killer disease with reduced life expectancy and significant handicap.
The child can not live without multiple blood transfusions and lots of social support. Each month the private treatment cost may run upto Rs 15000 or more. As the families are getting more and more nuclear, society can least afford many sufferers of conditions like these. As the experience in developed countries showed, with a proper system of prenatal (before birth ) diagnosis , it is possible to significantly reduce the incidence of these conditions to the benefit of the society.
What can be done if diagnosis of congenital abnormalities or hereditary conditions made before birth ?
Some of the congenital abnormalities are not compatible with life. Detecting them at a very early stage of life inside mother’s uterus enable parents to opt for termination of pregnancy which can prevent subsequent complication and mental trauma .
On the other hand, many of the congenital conditions of the babies are amenable to life saving corrective treatment either inside the uterus or immediately after birth, if there is a diagnosis done early during the pregnancy. On the other hand if a chromosomal or genetic condition is diagnosed before birth, not much can be done to correct it. However, diagnosing and terminating the pregnancy very early can prevent subsequent consequences of raising an abnormal child.
Why Fetal Master Health Check up is necessary ?
“Fetal Master Health Check up” offering top class obstetric specific ultrasound scanning that includes,
- Combined 1st Trimester Screening- with NT Scan with Double Marker Test (Fully Accredited with Fetal Medicine Foundation of London, Both for Ultrasound & Biochemistry) – Done between 11-14 weeks of pregnancy
- Quadruple Test – for those women who present after 14 weeks upto 21 weeks as an alternative to Combined 1st Trimester Screening for Downs Screening
- Detail Anatomy / Anomaly Scan – Done Between 18-22 weeks
- Fetal Well Being Assessment with Colour Doppler Study – Done between 32-36 weeks
For a Screening Programme like “Fetal Master Health Check up “ to be successful, it has to be universal, ie. to offer the test to every single pregnant women, as the statistics shows majority of fetal abnormalities will still come from low risk group, like young adult women.
