Genetic disorder in pregnancy is a kind of pregnancy complication that occurs when a mutation affects genes, which is harmful to your baby’s health and well-being. It requires proper treatment, or else it may lead to severe health issues. In this blog article, all the necessary information regarding genetic disorders has been included. Risk factors, symptoms, and treatment are highlighted here.
What is Genetic Disorder?
Genetic disorder in pregnancy is a health issue that happens when any defects or harmful changes occur in a Gene of a baby. A genetic disorder can be hereditary or may occur for other reasons. Genes determine the function as well as the characteristics of a cell.
Types of Genetic Disorders
Changes or mutations in the DNA lead to a genetic disorder, and the types of genetic disorders are as follows:
Chromosomal: This kind of genetic disorder occurs when a chromosome that holds DNA or a gene is affected. Some chromosomal disorders are:
- Down syndrome
- Triple-X syndrome
- Turner syndrome
- Trisomy 18
- Trisomy 13
- Fragile X syndrome
Complex or multifunctional disorder: The disorder caused by the combination of gene mutation and other environmental factors. Multifunctional disorders are such as
Arthritis
- Alzheimer diseases
- Autism spectrum disorder
- Coronary artery diseases
Monogenic (Single gene): A Single gene mutation leads to this disorder.
- Duchenne muscular dystrophy
- Cystic fibrosis
- Familial hypercholesterolemia
- Hemochromatosis
- Sickle cell disease
What are the causes and risk factors of Genetic Disorders?
The following factors may lead to Genetic disorder in pregnancy:
- Radiation exposure
- Chemical exposure
- The sun’s UV rays expose
- Smoking
Ensuring a genetic disorder is not possible before testing the blood of a baby, but several conditions indicate the potential risk of genetic abnormalities. The factors are as follows:
- Having a genetic disorder in the family history
- One of the parents or both have chromosomal abnormalities
- Already, having a child carries a genetic disorder
- Mother’s age is above 35 years
- Father is above 45 years of age
- Passes through multiple miscarriages
What are the Symptoms of Genetic Disorders?
Some common symptoms indicate the genetic disorder, and those symptoms vary based on the type of genetic disorder. The symptoms are as follows:
- Breathing problem
- Behavioral changes
- Delay in development
- Digestive issue
- Limb anomalies that involve cleft palate and lip
- Short stature
- Loss of vision
- Hearing loss
How to Diagnose Genetic Disorders?
You can consider genetic counselling to know what kind of genetic testing will be appropriate for you. Tests can detect the gene mutation that causes your Genetic disorder in pregnancy.
If you have a genetic disorder in your family history, you should undergo DNA testing to detect it.
1. Screening Tests
The following tests are performed to screen for the genetic disorder in the foetus as well as in the parents.
- Carrier Screening
This kind of screening is done through a blood test to ensure you or your partner or both of you are carriers of defective genes. This test is recommended for both parents, and the best time for this test is before getting pregnant.
- Prenatal genetic screening
Prenatal screening is a kind of blood test performed on the mother to detect genetic disorders. This screening test is suggested during the first and second trimesters of pregnancy.
- Non-invasive Prenatal Testing
It is a non-invasive screening blood test done to check the presence of the placenta in the mother’s blood for assessing the genetic disorder. In this test, the free-floating fragments of DNA from the placenta are analysed.
2. Diagnostic tests
Several routine tests are suggested during pregnancy to recognise the potential risk of Genetic disorder in pregnancy.
- CVS- During the first trimester, the sample of the placenta is being assessed in CVS (Chorionic Villus Sampling).
- PUBS- In Percutaneous Umbilical Blood Sampling, a blood sample is collected from the umbilical cord for analysis.
- Amniocentesis- In this effective diagnostic test, a sample of the amniotic fluid is analyzed to detect genetic disorders during the second trimester.
- CMA- To detect any chromosomal abnormalities, an advanced test called Prenatal Chromosomal Abnormalities is being performed by analysing the cells that have been taken from amniocentesis or CVS.
- WES- Whole Exome Sequencing is recommended in the case of complex conditions to assess almost all the genes of a baby.
What is the treatment of Genetic Disorders?
Most of the genetic abnormalities are incurable. Proper treatment and care are essential to avoid the harmful effects of genetic disorders. The type of treatment depends on the severity and the kind of genetic disorder you have.
- Medication or chemotherapy can be effective in slowing down the growth of the abnormal cells.
- Various dietary supplements can help to provide the necessary nutrients.
- Speech therapy and physiotherapy can improve your ability.
- An abnormal structure of your body can be repaired through surgery.
- Restoring healthy blood cells can be possible through blood transfusion.
- Organ transplantation is another effective way to replace the non-functioning organs.
How to Prevent Genetic Disorders
Some preventive measures for genetic disorders are discussed in the following points:
- Genetic counselling is a useful way of preventing genetic counselling and can help to identify potential risk factors.
- You need to go through several genetic tests before pregnancy to determine if you are a carrier of a genetic disorder.
- A diet rich in Omega-3 fatty acids, folate, and antioxidants helps to mitigate the risk of such birth defects.
- Regular exercise is essential to reduce body inflammation that enhances cellular function and leads to DNA damage.
If you or your family members have a genetic disorder and seek medical assistance from a specialist, then you can contact us at Fetal Imaging Institute, one of the most renowned fetal medicine clinics in North 24 Parganas, which provides complete care and protection to your developing fetus. Here, we offer advanced tests using the latest equipment to detect potential complications during your pregnancy. We are dedicated to offering a healthy childbirth through a quality assessment of the fetus and early screening, as well as diagnosis of chromosomal abnormalities. Our team of professionals also provides mental support through counseling facilities in addition to the medical assistance.
Join us today to have a healthy pregnancy.
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