Q92.7

Clinical Causes: Occur due to errors during cell division (meiosis or fertilization) leading to an extra set of chromosomes. Triploidy typically results from fertilization of an ovum by two sperm cells (dispermy) or an egg with an extra set of chromosomes. Polyploidy can also occur in plants and animals due to similar errors in cell division, but in humans, it's usually incompatible with life. Sometimes, genetic mutations or environmental factors during conception may contribute to abnormal chromosome numbers.

Key Symptoms: Severe growth restriction during pregnancy. Multiple congenital (birth) abnormalities affecting the heart, brain, and other organs. Increased risk of miscarriage or stillbirth. Physical features may include abnormal head size, facial anomalies, and limb deformities. Many affected fetuses do not survive beyond the first trimester or early infancy.

Diagnosis Path: Ultrasound imaging to detect growth issues and structural abnormalities. Amniocentesis or chorionic villus sampling (CVS) to analyze fetal chromosomes. Karyotyping to identify the abnormal number of chromosomes, confirming triploidy or polyploidy.

Treatment Protocols: Pregnancy termination may be considered depending on gestational age and local regulations. Providing emotional support and counseling to affected families. If diagnosed after birth with survival, supportive treatments are aimed at managing congenital anomalies and ensuring quality of life, although many infants do not survive long-term.