Triploidy
Triploidy Causes
The presence of an entire extra set of chromosomes cause this abnormality.
Triploidy Definition
This disorder is a rare lethal chromosome abnormality caused by the presence of an entire extra set of chromosomes. Unborn children with triploidy has 69 chromosomes rather than 46. Most fetuses are miscarried during pregnancy and those that survive usually have severe growth retardation and multiple birth defects.
Triploidy Diagnosis
Among infants, diagnosis is made by physical examination shortly after birth. A chromosome analysis or karyotyping will confirm the diagnosis. During pregnancies, abnormalities can be seen through sonograms, an abnormal screening test, or an abnormal CVS or amniocentesis test.
Triploidy Symptoms and Signs
In fetuses, a sonogram usually reveals severe growth problems or intrauterine growth retardation (IUGR), abnormal placenta, and limb abnormalities. Other abnormal sonogram findings include brain abnormalities, cleft lip and possible cleft palate, heart defects, kidney abnormalities, abdominal wall defects, neural tube defects, oligohydramnios, and placental abnormalities.
Triploidy Treatment
For surviving infants, palliative care is the only means to manage the disease since there really is no cure for triploid. Warmth, nourishment, and comfort should be given to the infant since surgical correction of birth defects is not suggested since the disease has a lethal nature. Pregnant mothers can choose to terminate the pregnancy but for those who want to go on with it, the mother should be monitored for pre-eclampsia and hyperthyroidism.