Medical technology is at its zenith, yet many recurrent abortions and catastrophic events such as sudden IUDs, stillbirths, perinatal deaths, and numerous birth defects remain unexplained. Most fetal anomalies can be confidently diagnosed on an ultrasound scan, but ultrasound alone may not explain the etiology of a particular condition—whether it is genetic, viral, bacterial, autoimmune, or drug-induced.

Advanced genetic diagnostic techniques such as high-resolution microarray, clinical exome sequencing, whole exome sequencing, whole genome sequencing, and MLPA are enabling us to uncover the root causes of birth defects at the molecular level. This information is essential for predicting the prognosis of a fetus with a birth defect, planning appropriate management, and assessing the risk of recurrence in future pregnancies.

The application of fetal medicine protocols—with advanced 3D and 4D ultrasound imaging technology combined with highly sophisticated genetic diagnostics—aims to identify the cause at very early stages of fetal development. This helps us formulate management plans for the current and subsequent pregnancies and also assists in minimizing reproductive failure. The mystery of many previously unexplained catastrophic events can now be resolved to a considerable extent.