Oligohydramnios Precision Panel

Overview

Oligohydramnios is defined as an abnormally low volume of amniotic fluid. Amniotic fluid is crucial for fetal development and growth, serving the foetus as protection from trauma and infection as well as helping in the development of fetal lungs. Normal amniotic fluid varies, on average it can reach up to 800-1000mL. An excess of amniotic fluid is termed polyhydramnios, decreased amniotic fluid is oligohydramnios. It occurs in approximately 11% of all pregnancies. Causes of oligohydramnios include rupture of membranes, fetal urinary tract blockage (renal agenesis, posterior urethral valves or polycystic kidney disease) which can have a genetic background associated with other genetic conditions. The mortality is high, especially if it is diagnosed during the first trimester as it can increase the risk for chest wall fixation and pulmonary hypoplasia.
The Igenomix Oligohydramnios Precision Panel can be used to make a directed and accurate differential diagnosis of oligohydramnios and uncover the genetics underlying this clinical sign ultimately leading to a better management and achieve a healthy baby at home. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

The Igenomix Oligohydramnios Precision Panel is indicated for those patients with clinical and ultrasound findings of oligohydramnios presenting with:
- Abdominal discomfort
- Amniotic fluid index < 7cm
- Fetal structure survey revealing congenital abnormalities

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team for hospitalization and obstetric management in case of preterm delivery and provide adequate hydration.
Risk assessment of asymptomatic family members according to the mode of inheritance.

Detail description