If you are planning to get pregnant or are already pregnant, genetic testing and screening can help you understand your baby's health. Genetic testing and screening can reveal certain conditions in your baby while it is still in the womb. The tests also come in handy in checking the baby's DNA and susceptibility to certain genetic diseases. Undergoing genetic testing and screening will help you take the right steps during pregnancy and know what to expect when the baby is born. All Women’s Care provides reliable genetic testing and screenings in Los Angeles, and we are ready to help you if you are seeking Genetic testing services.

Before Pregnancy Tests

Genetic carrier screenings performed on genetic carriers can reveal whether a child will inherit the genetic disorders present in the parents. Genetic career screenings involve examining the mother and the father’s genes. The majority of genetic tests and screenings are optional. However, the tests can help you make health decisions regarding you and your baby.

Your body may have genes for specific genetic conditions, yet you don’t suffer from the disease. In this case, you are a carrier of the genetic condition. A screening can help to reveal whether you, your spouse, or both of you are genetic carriers and whether you can pass the disorders to your children.

You may choose to undergo genetic screening and testing before or after pregnancy. However, the tests would be more helpful if conducted before pregnancy.

When a doctor is conducting a genetic test, he or she will take a sample of your blood or saliva. Lab analysis will look for genes in a wide range of conditions, but the most common are:

  • Sickle cell disease
  • Tay-Sachs disease
  • Cystic fibrosis
  • Spinal muscular atrophy
  • Fragile X syndrome

Individuals from specific ethnic communities tend to be carriers of certain genetic conditions. Therefore, it’s essential to ask your doctor if you're likely to be a carrier of certain conditions depending on your genetic background. For instance, cystic fibrosis is common among non-Hispanic whites, while Tay-Sachs and cystic fibrosis are common among people of Eastern Europe Jewish descent. People of Southeast Asian, African, and Mediterranean descent can be carriers of sickle cell disease.

Cystic Fibrosis

Cystic fibrosis is a genetic condition meaning that children acquire it from their parents at birth. This condition affects the way the body produces mucus. Mucus plays a significant role in the body because it facilitates the proper functioning of your organs and systems. In normal circumstances, the mucus should always be thin and slippery. However, for a person suffering from cystic fibrosis, mucus tends to be glue-like and thin. Thickening of mucus could lead to blockage of ducts and tubes in your body leading to complications.

Over time, thick mucus may accumulate inside your airways and make it hard for you to breathe. Accumulation of mucus could also lead to the collection of germs leading to infections. Cystic fibrosis could also lead to fluid-filled sacs in the lungs leading to severe lung damage. Many people in the United States suffer from cystic fibrosis, and doctors keep the diagnosis of new cases every year.

Spinal Muscular Atrophy

Commonly abbreviated as SMA, spinal muscular atrophy is a genetic condition that affects babies and children, making it hard for them to use their muscles. This genetic condition often leads to a breakdown in nerve cells in a child's brain or spinal cord. The condition prevents the brain from sending messages that control muscle functioning and movement.

This genetic condition leads to the weakening of a child’s muscles. A child may have difficulties moving their head or sitting without help. A baby may also have problems learning how to walk. In extreme cases of SMA, a child may have difficulties breathing and swallowing.

There are different types of SMA; the symptoms exhibited by your child will depend on the type of SMA that your child has. There’s no cure for SMA, but specific treatments can help to ease the symptoms. Despite affecting a child's muscles, SMA does not affect a child's intelligence in any way. Therefore, your child will still be able to make friends and socialize.

Genetic X Syndrome

Genetic X Syndrome is a genetic condition that causes a wide range of development problems in children. This condition could lead to cognitive impairment and learning disabilities in a child. Moreover, these disorders tend to affect males more than females. Affected children have delayed speech and language by the age of 2 years.

Children suffering from this condition often have anxiety and hyperactive disorders. They may engage in impulsive behavior now and then. Children suffering from this condition may have attention deficit disorder, an inability to focus on a particular task. Most children suffering from fragile X syndrome also portray signs of autism.

Sickle Cell Disease

Sickle cell disease is among the common inherited disorders in children. This condition occurs when the red blood cells assume a sickle shape. This condition makes most red blood cells die early, leading to a shortage of red blood cells, a condition referred to as sickle cell anemia. The condition could also block or inhibit blood flow leading to a sickle cell crisis. The treatment for sickle cell disease includes blood transfusion, medications, and bone marrow transplants.

Testing and Screening in the First Trimester

When you’re already pregnant, you may undergo genetic testing and screening to check your child’s genes and determine the risk of certain medical conditions. Some of the typical tests and screenings in the first trimester are:

Sequential Screen

This test combines blood tests and ultrasound to detect Down syndrome in children. It may also help to identify other conditions like trisomy 18 and brain and spine problems. The ideal time to undergo this test is when your pregnancy is 10th to 13th week of your pregnancy. If the test results come out negative, you may choose to undergo another test during your second trimester. 

Integrated Screening

This test, just like sequential tests, helps detect Down syndrome, trisomy 18, and spine and brain problems. Just like the sequential test, integrated screening combines blood tests and ultrasounds. You can undergo the test in your 12th week of pregnancy and a subsequent test in your second trimester. Compared to the sequential test, integrated testing is more accurate. However, it may take longer to get the results of the integrated screening. Typically, you’ll get the results of the test after the second part of the testing.

Cell-free DNA Testing

While you are pregnant, some of your baby’s DNA finds its way into your blood. After around ten weeks, your doctor may take a sample from you and analyze it to get the baby's DNA. Analyzing the baby’s DNA in a lab can help to reveal signs of conditions like:

  • Trisomy 13
  • Down syndrome
  • Trisomy 18
  • Problems with sex chromosomes

If the test shows a risk of congenital disability in your baby, your doctor may recommend further testing. Additional diagnostic tests can help to reveal the specific condition the fetus is at risk of developing. 

The cell-free DNA test does not indicate problems in the spine or the brain. Therefore, even if you undergo a cell-free DNA test, you may need to undergo an additional test in your second trimester to identify other specific conditions.

Second Trimester Tests

Your doctor may recommend specific genetic tests and screenings during your second trimester. Some of the typical tests conducted during the second trimester are:

  • Alpha-fetoprotein (AFP) test
  • Maternal serum quad test
  • Integrated screening
  • Ultrasound

The AFP test comes in handy in revealing neural tube defects. Usually, doctors conduct this test after a patient has already undergone a cell-free DNA test. A cell-free DNA test does not screen for neural tube defects.

The maternal serum quad test is a blood test that comes in handy in testing the presence of protein in your blood. The presence of protein in your blood means that your baby may be at a higher risk of developing conditions like Down syndrome, brain or spine problems, or trisomy 18.  Doctors usually conduct this test when the pregnancy is between the ages of 15 and 21 weeks. 

Most people undergo the first part of the integrated screening test during the first trimester.  After undergoing the first part of the test, you will undergo the second part of the integrated screening in your second trimester. The second blood test usually takes place when the pregnancy is between 16 and 18 weeks. 

You could undergo an ultrasound when the pregnancy is around 20 weeks. This test entails using a machine, which uses sound waves to make images of your baby. Your doctor uses the images from ultrasound to check the presence of certain congenital disabilities like cleft lip, kidney problems, and heart problems.

Diagnostic Tests During Pregnancy

The standard diagnostic tests conducted during pregnancy are:

  • Chorionic Villus Sampling (CVS)
  • Amniocentesis

The two tests, CVS and amniocentesis, help check for congenital disabilities in a baby before a baby is born. Some of the possible birth defects that these tests can help to reveal include:

  • Trisomy 13
  • Down syndrome
  • Trisomy 18

Problems with spine or brain growth - The amniocentesis test can help to reveal conditions like spina bifida. Both tests can also help to identify a wide range of genetic disorders. Both of the tests have an accuracy of 99%.

Most women do not undergo CVS or amniocentesis tests. However, the tests are favorable because they have a very low risk of causing a miscarriage. Most women feel comfortable relying on other screening tests results, even if some tests do not reveal certain genetic disorders.

The majority of screening tests are not 100% accurate or reliable. If the basic screening tests indicate that your baby could have a birth defect, you may undergo a CVS or an amniocentesis test to confirm the results of the previous screening tests. You may also choose to undergo a CVS or an amniocentesis test if you want a more accurate test.

When a doctor is conducting a CVS test, he or she tests a small part of your placenta, located within the uterus. To get the tissue sample for testing, your doctor may insert a thin tube through your cervix or a thin needle through your stomach. Most people undergo the CVS test early in their pregnancy, usually between the 10th and the 13th week. After undergoing this test, it’s normal to experience cramping, bleeding, and minor infection. However, the side effects often vary between different women.

When a doctor conducts an amniocentesis test, he or she inserts a thin needle through your stomach right into the sac surrounding the baby. The doctor then draws a small amount of amniotic fluid for analysis through a lab study. The lab analysis reveals the presence of cells and protein in the fluid. It’s safest to undergo the amniocentesis test between the ages of 15 and 20 weeks. After undergoing the amniocentesis test, it’s normal to experience cramping, bleeding, or infection.

You should not panic if your doctor recommends either the CVS or the amniocentesis test. A recommendation to undergo these tests does not mean that something is wrong with your child.  It simply means that the doctor wants to ensure that everything is well with your baby. A doctor may also recommend these tests as a follow up for the previous tests.

If you’re unsure whether to undergo certain screening tests, you should take some time to talk with your doctor about the tests. Ensure that you discuss each genetic test's pros and cons before you finally make a decision.

Benefits of Genetic Testing and Screenings

Most genetic testing and screenings are optional. Some people may not find the genetic tests and screenings necessary. The decision to get tested is absolutely up to you. It would help to talk to your doctor regarding the different options for genetic testing and screening. Some of the advantages of prenatal testing and screening are:

You’ll Feel More Relaxed

The peace of mind you get from knowing that your unborn child is developing normally is priceless. This is the assurance you get from genetic testing and screening. The latest forms of genetic testing are accurate. Therefore, even if it’s still possible to get a false negative, it’s highly unlikely. However, you should keep in mind that simply because a prenatal test comes out positive does not mean that your child has the said condition. The main aim of prenatal screenings is not to diagnose genetic disorders in a baby. The main aim of the tests is to inform you if your child has a likelihood or risk of developing a certain condition.

If you undergo genetic testing and the results come out positive, your doctor will recommend the next steps. For instance, your doctor may recommend that you see a specialist. The doctor may also recommend advanced tests like CVS and amniocentesis to diagnose the exact condition.

You Can Make Arrangements for the Necessary Procedure

Genetic testing and screenings may reveal certain conditions in your baby. In case an abnormality is detected during the screening, you can make the necessary steps. It helps to know what to expect after the birth of your child. In some instances, you may choose to undergo a pre-birth procedure to correct a disorder in your child instead of waiting until the child is born. You may also arrange for a specialist to address the disorder immediately after the birth of your child. Taking the right measures in advance will go a long way in enhancing the prognosis of your baby and also in enhancing the baby’s quality of life.

Time to Prepare

If you undergo genetic testing and screening and learn that you’re expecting a child with special needs, you'll take the necessary actions. You will have ample time to prepare physically and emotionally for the birth of your child. Some of the steps that you could take to prepare for the birth of a child with special needs are:

  • Gathering enough information- you may talk to doctors and genetic counselors who specialize in your child’s condition. These experts can advise you about your child’s condition. Gathering information beforehand ensures that you and your partner are ready for the arrival of your little one.
  • You could also seek out support groups and counseling – You may join a condition-specific support group. In these groups, you’ll be able to interact with other parents who have children with special needs. You can join a community or online support groups.
  • You’ll choose to give birth in the right facility – by knowing beforehand about the special needs of your unborn child, you’ll plan to give birth at the right facility. Some hospitals are specialized in taking care of high –risk births.  Such hospitals may also have existing support groups that you could join.
  • Arranging special care for your child-After understanding the special needs of your child, you can arrange special care for him or her in advance. You can partner with a pediatrician with special training even before the birth of your child.

Detection of Conditions that May be Undetectable after Birth

Some conditions are not obvious at birth or several days or months after birth. However, these conditions may be visible while a baby is still in the stomach. If you don’t undergo screening, your child may have symptoms that could take long to detect and treat after birth. By undergoing genetic testing and screening, you’ll understand these conditions early. You will seek the necessary treatment for your child immediately after birth.

If a screening reveals that your child has chromosomal abnormality 22q that could lead to immune system deficiencies and make it hard to maintain calcium levels, you can plan. Immediately after birth, doctors can begin to monitor your child’s calcium levels. Doctors will also be careful while administering vaccines to your child because they could harm him or her.

When Genetic Testing is Recommended

Although genetic testing and screening are an option, it’s important to undergo the test under certain circumstances:

When a Mother is Over 34 Years

If a pregnant woman is over 34 years, she is at a higher risk of getting a child with a chromosomal issue like trisomy. On the other hand, children of older fathers may be at risk of novel dominant genetic mutations. These are mutations arising from a single genetic defect that may not have run in the family before.

Abnormal Results of a Prenatal Screening Test

If you undergo a routine prenatal screening test, and the doctor obtains abnormal results, he or she may recommend genetic testing and screening. If the tests of routine screenings show the possibility of a genetic problem, an additional genetic screening would be ideal.

Inherited Illness

If a couple plans to get married, and one of them has an inherited illness, a genetic test would be important. Some people are carriers of certain genetic illnesses even if they don’t portray signs of the disease. Therefore, people who have inherited a problem gene show no signs are likely to pass the problem genes to their children. 

Another Child with Birth Defect

If you already have one child with a birth defect, you may undergo genetic testing and screening for your other child.

You’ve had Two or More Miscarriages

Genetic testing and screening would be necessary if you’ve had two or more miscarriages in the past. Spontaneous miscarriage may occur due to severe chromosome issues in a fetus. Having several miscarriages may be an indication that you have a genetic problem.

Delivery of a Stillborn Child

If you deliver a stillborn child with signs of a genetic disorder, you may consider genetic testing and screening for your other child. Many genetic problems have distinctive physical characteristics that may exhibit on a stillborn.

You may also undergo genetic testing and screening if your other child has medical issues that are part of a genetic syndrome.

Find a Genetic Testing and Screening Medical Practice Near Me

If you are pregnant and looking forward to your child's birth, you could easily get lost in the excitement. However, it’s important to take the necessary steps to enhance your unborn child's well-being as you prepare for his or her birth. Genetic testing and screening can reveal the fetus's condition and the presence of genetic defects. Knowing the condition of an unborn child allows you to prepare in advance. For reliable genetic testing and screening in Los Angeles, contact All Women’s Care at  213-250-9461.