28/06/2025
जन्म दोष लवकर ओळखण्यासाठी Fetal Medicine Consultant कशी मदत करू शकतात ? Birth Defects | Dr Pooja Pol
In this informative video, Dr. Pooja Pol, Fetal Medicine Specialist at SonoFitz, Ahilyanagar, explains how fetal medicine plays a vital role in early detection of birth defects, helping parents take informed, timely, and safe decisions during pregnancy.
There are two major types of birth defects:
1. Genetic (Chromosomal)
2. Structural (Physical)
Detecting Genetic Defects:
Using the NT Scan (11–14 weeks), fetal medicine specialists assess specific markers such as Nuchal Translucency (NT), skin thickness, and nasal bone to screen for conditions like Down syndrome and other chromosomal abnormalities.
Advanced blood tests like the Double Marker Test and NIPT (Non-Invasive Prenatal Testing) further help estimate the baby’s risk.
If a previous child had a genetic condition, confirmatory testing may be advised to ensure early diagnosis in the current pregnancy.
Detecting Physical Defects:
During the NT scan (1st trimester), fetal medicine experts also examine the baby’s physical organs. Around 60–70% of structural defects can be detected as early as the 3rd month.
By the 5th month (18–20 weeks anomaly scan), around 80–90% of major anomalies can be identified. Every organ—brain, heart, spine, face, limbs—is studied in detail to check for shape, size, and proper development.
Fetal medicine doctors not only detect these anomalies but also help determine whether the condition is treatable, temporary, or requires planning for specialized care post-delivery*.
Why Early Detection Matters:
If a defect is found early, doctors can guide whether the pregnancy is safe to continue.
Delivery planning can be done in a hospital with access to pediatric surgeons or cardiologists, ensuring immediate treatment after birth.
Conditions like water in the brain, cysts, cleft lip, or tumors are evaluated for their severity and compatibility with life.
Fetal medicine experts provide detailed counselling to reduce parental stress and help take practical and informed decisions.
This is the first fetal medicine clinic in Ahilyanagar, offering a much-needed service for accurate diagnosis, expert interpretation, and comprehensive prenatal care.
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