Fetal Medicine Specialist  – Dr. Rajeshwari Pawar

Fetal medicine can be defined as the new age medical intervention science that helps in detecting birth defects in the fetus. This field of science detects most abnormalities in the baby before it is born. Fetal medicine also supports prenatal management and the diagnosis of defects through surgery, delivery, and post-birth care (multidisciplinary team approach).

This empowers the expecting parents and the doctors of what lies ahead. based on the detection, the parents have the choice of managing most fetal defects intrauterine. This procedure is also useful for saving their child from any abnormalities.

The Department of Fetal Medicine also helps in planning the pregnancy of complicated cases along with obstetricians, neonatologists, pediatric surgeons, and others.

Prenatal diagnosis is the ever-improving ability to detect abnormal conditions of the fetus (and to differentiate them from normal fetal development). The most common (and often first) test used for prenatal diagnosis is ultrasound.

SCREENING TESTS IN FETAL MEDICINE

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 lookout 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.