7 Types of Genetic Diseases to Test During Pregnancy

Did you know you could establish your unborn baby’s health, and yours as well, through genetic testing? Some of these tests scan your baby for possible medical complications while still in the womb.

Other tests screen for different types of genetic diseases. While most tests are optional, they can help you make crucial health decisions so you can know exactly what you will have to deal with when your baby is born.

Below are 7 types of genetic diseases that can be tested during your pregnancy:

1. Brain and Spine Problems, Down Syndrome, and Trisomy 18

Tests for these types of genetic diseases are done during the first trimester. They involve a sequential screening procedure that employs a mix of blood and ultrasound tests. It is perfectly safe to undergo these tests between 10 to 13 weeks of your pregnancy. If the tests come out negative, you can opt to undergo further testing during your second trimester.

Integrated screening is another type of test that involves a combination of blood and ultrasound tests to screen for Trisomy 18, Down syndrome, and brain and spine problems. The first part of this test is done at about 12 weeks of your pregnancy, while the second part is carried out during your second trimester.

Compared to sequential screening, it’s considered to be more accurate, although it takes longer to process the results, which come out during the second trimester.

2. Trisomy 13


To screen for this disease, a cell-free fetal DNA testing is conducted. Since a part of your child’s DNA finds its way into your blood, your doctor may take a blood sample from you after ten weeks to test your baby’s DNA for Trisomy 13 together with down syndrome, Trisomy 18 and sex chromosomes defects.

If the test shows a risk of a birth defect, a diagnostics test is performed to confirm the results. While DNA tests can identify a myriad of genetic problems, he cell-free fetal DNA test, however, is not used to screen spine or brain problems.

3. Cystic Fibrosis


Cystic fibrosis (CF) is a genetic disorder that causes recurrent lung infections. It involves the buildup of mucus in the pancreas, which hinders the production of digestive enzymes and, which aids the body in absorbing key nutrients.

This results in stunted growth and malnutrition. This condition can affect a man’s fertility. Testing for CF during pregnancy helps manage the disease and protects your child.

4. Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) causes degeneration of muscles and weakness. It is caused by a lack of dystrophin, a protein necessary for keeping your muscle cells healthy. The absence of dystrophin in the body affects your thigh muscles and those of your shoulders, hips, legs, and around the pelvic area.

These symptoms can manifest in a child aged between 3 and 5 years. A mother with this hereditary disorder can pass it to a child during pregnancy.

5. Sickle Cell Anemia

Sickle cell disease affects one’s hemoglobin. Someone with this disorder has the unusual hemoglobin known as hemoglobin S, which destroys the red blood cells, prematurely breaking them down to form a sickle shape. The symptoms of sickle cell anemia include periodic pains, low red blood cells count, and stubborn bacterial infections.

These symptoms vary from one person to another. To some people they are mild; to others they are severe. This disorder causes breathing problems, weariness and stunts growth in children. Sickle cell anemia can cause serious health problems such as pulmonary hypertension.

6. Polycystic Kidney Disease

Polycystic kidney disease (PKD) occurs when a collection of cysts develop in the kidney. With time, it can cause kidney failure, especially from age 60. The cysts in the kidney vary in size. As they grow and enlarge, they can ultimately compromise your kidney and with time lead to other complications such as high blood pressure and kidney failure.

Symptoms include headaches, bloating, blood in the urine, kidney stones, back pains, and urinary infections.

7. Tay-Sachs Disease


This is a rare hereditary disease that systematically destroys neurons (nerve cells) in the spinal cord and brain. Children with Tay Sachs may appear just like any other normal children until they are three to six months old.

From here, their development becomes sluggish and the muscles start weakening. They end up losing their motor skills and have challenges crawling, turning over, or sitting. They startle easily whenever they hear a loud noise. As Tay-Sachs progresses, they start experiencing vision and hearing loss, paralysis, seizures and become intellectually disabled.

A keen eye examination will later reveal an abnormality in their eye known as a cherry-red spot. A child suffering from this genetic disease cannot live beyond childhood.

Your health and that of your unborn child are important. If you did not go for pre-pregnancy genetic disease screening, you can still do it during your pregnancy. This is important since the health of your unborn child may depend on it.

  • Gretchen is a free-spirited blogger focused on ways to improve her spiritual and emotional health. She uses the MANDALA HEALS blog to dispense advice, tutorials & guides on various topics.

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