There’re a number of genetic disorders around. Trisomy 13 is one of them, a rare chromosomal condition resulting from having a further copy of chromosome 13 in cells. Another term for trisomy 13 is Patau’s Syndrome. Medical advancement helps relieve the symptoms that the baby develops. There’s no permanent cure for this chromosomal condition, however.
This condition may come from the egg or sperm during reproduction. Learning issues and mental and physical development problems occur due to this extra copy of a chromosome instead of two. Other complications may be stillbirth, miscarriage, etc. Consider talking to the best genetic doctors in Siliguri.
Possible signs & symptoms
Babies with this genetic disorder may develop the following signs:
- Low birth weight
- Underdeveloped nose, nostrils
- Clenched hands
- Hernias
- Cleft lip
- Extra fingers, toe
- Small head
- Low-set ears
- Eyes set close together
- Unusually small eyes
- Red, raised birthmarks
- Deafness
- Congenital absence of skin
Further possible health problems in babies who survive include:
- Intellectual/learning problems
- Hearing loss/deafness
- Breathing issues
- Hypertension/high blood pressure
- Seizures
- Congenital heart defects
- Poor feeding, poor digestion
- Neurological issues
- Delayed growth
- Pneumonia
- Kidney problems
What are the options for diagnosis & Treatment?
Routine health checkups under medical supervision throughout pregnancy are of immense need. Trisomy 13 that doctors diagnose during prenatal ultrasounds. A medical expert can evaluate the presence during 1st trimester of gestation. See one of the best genetic doctors in Siliguri.
Amniocentesis also works great at diagnosing this chromosomal defect. During this prenatal test, the doctor makes use of a fine needle in order to take a small sample of amniotic fluid. Amniotic fluid surrounds the fetus during gestation. Health care providers may recommend this test if prenatal ultrasounds or screening tests show any abnormalities.
At the same time, other conditions that doctors may go for this test involve – if genetic disorders like cystic fibrosis or sickle cell anemia run in the family, you have sickle cell disease or another genetic disorder, your maternal age is 35, etc.
Your specialist may order other tests as well, such as chorionic villus sampling, or blood tests. Chorionic villus sampling/CVS refers to diagnostic tests conducted after the 11th week of gestation in which a fine tube is interested through the cervix into the uterus to take out a sample of chorionic villus cells from the placenta. For genetic testing in Siliguri, reach out to your genetic doctor.
Medical care focus on relieving the symptoms the baby has such as breathing issues or heart problems. However, no specific treatment can treat trisomy 13. Your doctor, depending on the severity of the condition, sets a treatment plan so as to heal discomforts as much as attainable.
