Trisomy 9 Symptoms, Diagnosis, and Life Expectancy
Trisomy 9 is a rare and often fatal chromosomal abnormality that occurs in approximately 2.4 percent of pregnancy losses that occur before the 20th week of pregnancy (spontaneous abortions).
Similar to trisomy 21 (also known as Down syndrome), trisomy 9 occurs when there are three copies (as opposed to the usual two) of chromosome 9 present in a fetus's cells. Trisomy 9 is rarer than trisomy 21 and has more severe manifestations. It also has a much lower survival rate.
Types
There are three types of trisomy 9. Each type has its own genetic characteristics and physical manifestations.
- Full trisomy 9: All of the cells in the baby's body and placenta have three copies of chromosome 9.
- Partial trisomy 9: There are two full copies of the ninth chromosome plus an additional partial copy.
- Mosaic trisomy 9: Trisomy is present in some of the body's cells while other cells have a normal set of chromosomes.
Full trisomy 9 is nearly always fatal, with the vast majority of affected fetuses dying in the first trimester. The majority of live-born babies have mosaic trisomy 9. Many will die in infancy from health problems caused by the disorder.
However, some infants with mosaic trisomy 9 do survive beyond the first year of life.
Partial trisomy 9 does not always affect an infant's life expectancy. However, babies with the condition do have a range of health and developmental problems.
Signs and Symptoms
The signs and symptoms of trisomy 9 are variable. Some can be detected before a baby is born while others may not be apparent until after birth.
Prenatally, common findings on ultrasound include fetal heart defects and brain and spinal cord malformations. After a baby is born, signs and symptoms associated with trisomy 9 include:
- Characteristic facial appearance (small head, broad nose with a bulbous tip, cleft lip and/or palate, small jaw, low set ears, small eyes and/or eyelid folds that slant upwards)
- Vision problems
- Dislocated joints
- Underdeveloped genitalia
- Undescended testes in male infants
- Kidney cysts
- Feeding and breathing difficulties at birth
- Failure to thrive
- Short stature
- Vision problems
- Variable cognitive disabilities and developmental delays
Risk Factors
In most cases, trisomy 9 appears to occur randomly rather than as a result of specific, identified risk factors. The exception is if either parent has a condition called balanced translocation affecting chromosome 9, as research has found an association between the condition and an increased risk of having a baby with partial trisomy 9.
However, compared to the other types, partial trisomy 9 is relatively rare.
Diagnosis
Trisomy 9 is frequently diagnosed following a miscarriage, but it can also be detected during pregnancy by chorionic villus sampling (CVS) or amniocentesis. Using placental tissue from CVS or fetal cells from amniocentesis, a doctor can order a picture of the baby's chromosome (karyotype). If indications of trisomy 9 are seen at birth, a karyotype can be completed to confirm the diagnosis.
A Word From Verywell
It is scary and confusing to be told your baby has a genetic disorder, no matter how severe the condition may be. If you have a miscarriage, know that the loss was not your fault and the odds are low that your next pregnancy will be affected.
If you are currently pregnant and prenatal testing detects trisomy 9, you will want to speak to an experienced genetic counselor or geneticist. While there is no cure for the condition, understanding which form of trisomy 9 has been diagnosed will help you make decisions about your pregnancy; labor and delivery, and postpartum care and treatment for your baby.
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