Due to the advancements in medicine, we now have several methods used to screen and detect the abnormalities that may be present in the fetus. The special techniques help parents to be aware and manage pregnancies especially when they have a history of life-altering genetic diseases. The science also provides options to rectify certain defects in the womb itself, providing the parents do not blindly opt for a medical termination.

Common diseases for which fetal medicine look out are – Down’s syndrome, other chromosomal abnormalities like Edwards, patau syndrome, Di George syndrome and structural defects like Open Spina Bifida, limb abnormalities, skeletal abnormalities, bladder obstruction etc.

The various options for screening and detection are:

• ULTRASOUND 

This is the simplest and the most common detection technique. This helps to pick up most structural abnormalities and gives a clue for the underlying chromosomal abnormality.

An important marker of the chromosomal abnormality especially Down syndrome is NUCHAL TRANSLUCENCY which with the advancement has been combined with the other markers.

Adding certain blood tests improves the level of accuracy of the diagnosis of Down syndrome.

• INVASIVE DIAGNOSTIC TESTS – They require a form of surgical intervention in the form of insertion of a fine needle into the uterus under ultrasound guidance. The most common invasive tests are Amniocentesis, Chorion villus sampling, and fetal blood sampling.

• NIPT /NIFTY is a novel SCREENING test with very high accuracy(99.6%) for Down syndrome without any risk of miscarriage, as it is done by segregating fetal DNA from mother’s blood by an advanced technique.

Selective Embryo Reduction – In case of higher order multiple pregnancies, it is advisable to reduce the number of fetuses to two in order to minimize risks of multiple pregnancies both to the mother as well to the fetuses.

PRE-ECLAMPSIA SCREENING

Pre-eclampsia is pregnancy-induced high blood pressure. It is one of the most common life-threatening conditions occurring in pregnancy. It occurs 1 in 50 pregnancies. High blood pressure can be extremely dangerous to both, the mother and baby. Currently, the only treatment is delivery. The delivery needs to be timed carefully as it needs to balance the condition of the mother and the maturity of the baby.

The probability of developing pre-eclampsia is increased by some factors including high body mass index (BMI), first pregnancy, and having any previous personal and family history of pre-eclampsia.

In addition to your 11-13 week scan you can opt to have a pre-eclampsia pregnancy screening for this potentially serious condition. There is vast evidence that early pre-eclampsia is associated with an increased risk to you and your baby’s health. Better maternal and fetal monitoring if detected high risk would lead to the early detection of pre-eclampsia from the clinical signs of the disease and where necessary medication can be given.