Is there any ABNORMALITY in the baby?
Pregnancy is a long nine-month journey. So anything can happen at anytime, quite unexpectedly.
Nowadays, we have ultramodern technologies, which can detect whether the baby is having any serious abnormality, before birth. Usually testing should be done 2 times
1) 11-13 weeks- Combined Test or First Trimester Screening (FTS)- which includes blood test and a specialized ultrasound scan ("NT Scan"). By this test, in initial period, majority of the lethal abnormalities and chromosomal abnormalities are screened. However, some abnormalities may not be detected at this stage.
2) 18-20 weeks- Anomaly Scan- It describes all the organ in details and detects the possible abnormalities.
Where these two tests should be done?
These tests should be done only by the certified Fetal Medicine Specialists. this is very important because the "Man Behind The Machine" matters.
Is there any role of Triple Marker or Quadruple Marker tests"?
"Triple Test" and "Quadruple Test" are the blood tests done between 15 and 20 weeks to check for chromosomal abnormalities.
Triple test is OBSOLETE nowadays.
The Quadruple test is done ONLY when the woman missed the timing of FTS. The result of this test is less accurate than the FTS.
If these tests are normal, can there be any abnormalities?
Yes, the chance is low but still can happen. this is because, even with the best possible hand, all the abnormalities cannot be detected. This is because, some abnormalities cannot be seen by ultrasound or when there is technical difficulties (mother is overweight, there is less amount of water inside the uterus etc). Some abnormalities may be discovered later (like around 28-32 weeks during further scan).
If cardiac abnormalities are suspected (having strong family history of cardiac defect since birth or mother is having diabetes or taking medicines for epilepsy etc), Fetal EchoCardiography is suggested around 20-22 weeks.
What to do if any abnormality is detected?
The options include
1) Further scan to see whether abnormality persists or resolves
2) Discussion with paediatrician, cardiologist or other specialist, whether any treatment or surgery can be done after the baby is born
3) Further testing of baby's tissues by CVS (Chorionic Villus Sampling) or Amniocentesis- including genetic testing
4) Termination of Pregnancy following the legislation.
This unfortunate lady conceived after infertility. However, the FTS showed abnormality in the baby's hand, which is severe enough to cause seriously handicapped baby.