FIRST TRIMESTER SCREENING FOR DOWN SYNDROME

Babies are, first and foremost, gifts from God. Parents should remember that we are only co-creators of this wonderful miracle but it id in God’s power and blessing to give us the child we will have. A child’s physical attributes, personalities, predisposed talents & abilities are all of God’s design. As parents we may contribute in the genetic makeup of the child but it is all in God’s hands. Will God give us a boy or a girl? Will our baby be a tall basketball player or a petite ballerina? We offer it up all to God.

Being pregnant in Singapore and doing my prenatal check-up here gave me the access to the newest technologies and investigations for pregnant women. My obstetrician here offered me a first trimester screening test for Down Syndrome and other chromosomal abnormalities. It is offered to all pregnant mothers in Singapore. It depends on the mothers to have themselves tested.

Majority of babies are normal but statistically-speaking, there is a 2% risk of delivering a child with baby with a physical or mental handicap. The most common abnormality is the Down Syndrome which is known before in a politically-incorrect term as Mongoloid because of the similar features of people from Mongolia. We hardly used the word now. In scientific terms, it called Trisomy 21 to signify an abnormality in the chromosome 21. First trimester screening test is to identify the risk having a child with Down Syndrome to prepare parents psychologically for the birth of the child.

Some mothers chose not to get tested. But I accepted the offer to do the screening test for educational sake. I am a doctor and this test is not something that I am familiar with in the Philippines. I am not sure if in Manila or in Cebu this screening test is now offered as  a regular screening test in all prenatal mothers. When I was in Iloilo, this prenatal test was not part of the maternity package.

This screening test is to estimate the risk for Down Syndrome and help the couple decide if they want to do the invasive test called amniocentesis to know definitely if the fetus has a chromosomal abnormality. However, be warned that amniocentesis is associated with less than 1% chance of miscarriage also.

So how is the First Trimester Screening done? It is assessed by three methods:

1.) Mother’s Age

Risks of chromosomal abnormalities increases with mother’s age by age 35. Only mother’s age 35 and above are offered the amniocentesis. Since I am near that age but not yet at that age, I wasn’t offered the invasive testing.

2.) Maternal Serum Screening

A blood test will be done. They will check on the Free Beta-HCG (Human Chorionic Gonadotropin) – the same substance that you test in pregnancy kit to see if you’re pregnant and the PAPP-A (Pregnancy associated plasma protein). Those who have very high Beta- HCG and low PAPP-A have increased chances of having a child with Down Syndrome.

3.) Ultrasound Scan

A skilled and accredited sonographer will be the one performing this scan to identify the presence or absence of structural abnormality or the soft tissue markers predicting risk of Down Syndrome. The sonographer will look for the nasal bone and measure the nuchal  (nape of the neck) translucency of the fetus.  Absence of nasal bone and thickened nuchal translucency points towards a possibility of Down Syndrome.

This screening test is usually done between 11 weeks or 13 days 6 days age of gestation. I had mine done at 12 weeks and 4 days. The result usually would come out 3 -5 days after the tests. They would send you an SMS of the result if its normal. If they find any problem, you will receive a call.

In three days time, I got an SMS to inform me that I have low risk results. However, it is important to note that this test is to estimate risk and chances of chromosomal abnormality rather than a diagnosing testing.

Here is the ultrasound picture of my baby:

 

This reality made me realised that we are all creations of God. God lay before us our destiny and He has wonderful plans for all of us. He is the all mighty and knowing God. He will direct us and guide us as we go through our lives here on earth, And He will always be there to guide us in bringing up this beautiful miracle nestled safe in my womb….