The Ultimate Guide to Genetic Testing for Expectant Parents: Everything You Need to Know

Genetic testing has emerged as one of the most integral parts of pregnancy planning and prenatal care. Many expectant parents are curious about the health and development of their future children. The aim of this process is to analyze the DNAs to check for possibilities of genetic disorders, abnormalities in the chromosomes, and any other inherited conditions.

As technology advances, genetic testing has become more accurate and accessible for people. With the information received from a genetic origin test, families can make the right decisions when planning a pregnancy.

Understanding the different types of genetic tests, when they are done, the techniques used, the results, and the risks is very important. The sections below will explore these aspects in a very detailed manner.

What is Genetic Testing?

Genetic testing, also known as DNA testing, refers to the process of analysis of the genes, chromosomes, and proteins in your body. This is done by collecting a sample of one of the following -

• Blood
• Skin
• Hair
• Tissue
• Amniotic fluid

Many people opt for genetic testing in India to check whether they have any underlying genetic conditions. Furthermore, if you are prone to developing a genetic disorder or want to know if your child will carry the disorder, this method is very effective.

What is the Purpose of Genetic Testing?

The primary purpose of genetic heritage testing is to provide essential details about the genetic history and makeup of a person. This is critical for the identification of potential risks to your health. With all the information at your disposal, you will be able to find the best preventive and treatment options.

Genetic testing also empowers you to make informed decisions when it comes to your reproductive life. During pregnancy, genetic testing is conducted to assess the risk of chromosomal abnormalities or certain genetic disorders. By doing this, expectant parents can understand and prepare for the medical needs of their child. In addition to genetic testing of pregnancy, fertility treatments also make use of this technique.

Genetic testing plays a very crucial role in enhancing the chances of a successful pregnancy when you opt for treatments like IVF (in vitro fertilization). Preimplantation Genetic Testing (PGT) is commonly used during IVF to screen the embryos and check for any genetic abnormalities before it is placed inside the uterus of the mother. The result is a reduced risk of miscarriages and a careful selection of embryos for a better chance of a healthy pregnancy.

All in all, genetic testing provides you with valuable information so that you are better aware of your family history and health and are taking the proper measures to take care of it. Genetic testing is also essential to ensure that Repeated IVF Failure doesn’t occur.

Diseases Detected With the Help of Genetic Ancestry Testing in India

When you opt for genetic testing, you will be able to check for the possibility of a wide range of diseases. Some of these include the following:

• Cystic fibrosis
• Sickle cell disease
• Spinal muscular atrophy
• Fragile X syndrome
• Tay-Sachs disease
• Breast and Ovarian Cancer
• Psoriasis
• Parkinson’s Disease
• Bipolar Disorder
• Dyslexia

The Different Aspects That a Genetic Blood Test or DNA Test Covers

There are many types of genetic testing, and all of these involve an observation of one or more of the following from your DNA:

Genes:

Gene testing, or genetic testing, involves analyzing DNA to identify changes or mutations that might indicate a risk of specific genetic disorders or diseases. Depending on the requirement, a gene test may involve the analysis of a single gene, multiple genes, or your entire DNA. When your entire DNA is tested, the process is known as genome testing.

Chromosomes:

Chromosome testing, also known as karyotyping, is a specific kind of DNA test that involves an analysis of the number as well as the order of chromosomes in your body. Sometimes, extra chromosomes may also be present in the DNA of a person. The various diseases caused by chromosomal abnormalities include:

• Trisomy 18
• Trisomy 13
• 45, X (Turner syndrome)
• 47, XXY (Klinefelter syndrome)
• 47, XYY
• 47, XXX
• Trisomy 21 (Down syndrome)

Proteins:

Protein testing is used to analyze how the proteins in your cells function, specifically their enzyme activity. By examining proteins, healthcare providers can gain insights into the changes in your DNA that may be capable of causing a genetic condition.

Kinds of Techniques Used for Genetic Screening Tests

A genetic blood test uses various techniques to detect genetic mutations, chromosomal abnormalities, and other conditions.

PCR (Polymerase Chain Reaction)

Polymerase chain reaction (PCR) is one of the most reliable techniques used for amplifying small DNA segments when a small sample of genetic material is available. This facilitates the copying of DNA so that it is prepared for analysis using other techniques. The genetic variants that are known to cause cancer or genetic disorders are identified using this technique.

DNA Sequencing

DNA sequencing is the process of determining the exact order of the bases of the nucleotides in DNA. These nitrogenous bases include - Adenine (A), Guanine (G), Thymine (T), and Cytosine (C). This technique will help the experts analyze the gene and the region that regulates it to check for any anomalies that may be the cause of a disorder.

DNA sequencing is of two kinds:

Sanger sequencing (single gene):

For many years, doctors and clinical experts have used Sanger sequencing as the most reliable technique for genetic testing. A special chemical is used in this technique, which will impart different colors to different DNA nucleotides, depending on the nitrogenous base they are carrying (among A, T, G, and C). The drawback of this technique is that it can only help you analyze one short section of DNA at a time.

Next-generation sequencing (NGS):

Next-generation sequencing (NSG) is the new-age and evolved technique used for the sequencing of the whole exome or the whole genome. This is a faster sequencing technology that can sequence millions of small DNA fragments simultaneously. Depending on whether NSG is used for sequencing the entire exome or genome, the technique is called whole exome sequencing or whole genome sequencing, respectively.

Cytogenetics

Cytogenetics refers to the study and analysis of 23 pairs of chromosomes present in the human body. These include 22 pairs of autosomes and 1 pair of sex chromosomes (ones that determine the sex of the individual). This type of genetic testing for pregnancy helps experts examine the anomalies in these chromosomes.

The two approaches used under cytogenetics include:

• Chromosome Analysis (Karyotyping)
• Fluorescence In Situ Hybridization (FISH)

Gene Expression Profiling

Gene expression profiling is a technique used to understand which of the genes in a cell are turned “on” and “off”. When a person gives their tissue sample for gene expression tests, the experts evaluate their RNA. The best use of this technology is in the detection of malignant breast tumors and the provision of personalized patient care.

Microarrays

Microarray testing, also known as chromosomal microarray or molecular karyotyping, is a technique used to study an individual's DNA for deletion, duplication, or large identical DNA stretches. When the DNA changes are so small that karyotyping or FISH cannot identify it, this diagnostic testing method is used.

Exploring the Different Types of Genetic Testing in India

There are numerous types of genetic testing available in our country and across the globe. These include:

Prenatal Testing

Prenatal genetic testing refers to genetic tests conducted during pregnancy to assess the health and development of the fetus. The prenatal DNA test helps you understand the possible health conditions with which your baby may be born.

Your healthcare professional will analyze your medical history and family history. Then, if they think there is a need for prenatal testing, they will recommend it to you. Over the years, fetal genetic testing has evolved and become a powerful tool for expectant parents to make informed decisions about their pregnancy.

Preimplantation Testing

Pre Implantation Genetic Testing (PGTA test) is specifically used in ART (assisted reproductive technologies like IVF to test the embryo for possibilities of genetic disorders. This helps your IVF specialist choose only the best embryos and promise a better success rate.

Preimplantation Genetic Testing (PGTA) is the gold standard for doctors to test certain mutations in the embryos before they are transferred to the uterus of the mother. This can be done after Mild Ovarian Stimulation, depending on the condition causing infertility.

Newborn Screening

This happens on the second day after the birth of your baby. The goal is to check whether there are any genetic, metabolic, or hormone-related issues. This ensures that the parents understand their options better and the newborn gets the best treatment on priority.

A Look at The Top Recommended Genetic Testing for Pregnancy

Genetic testing during pregnancy (and before pregnancy as well) is essential to analyze during Infertility Treatment whether your child is at risk of developing certain genetic conditions after it is born. The doctors will recommend different options to you, depending on their knowledge and your medical and genetic history. These include:

How to Prepare for Your Genetic Test

Here are some valuable tips to keep in mind before genetic testing pregnancy:

• Know everything about your family’s medical history.
• Discuss all your concerns with your expert doctor.
• You may have to give any of the following:
• Blood sample
• Chorionic villus sampling
• Amniocentesis
• Remember the guidelines stated by your doctor before the test.

Understanding the Results of a DNA Genetic Testing

The results of your DNA genetic testing will not be straightforward. Your doctor will make an interpretation about your risks depending on your medical history, any symptoms, and the test results. The three possible outcomes are:

• Positive: A genetic mutation has been found in your DNA.
• Negative: If a genetic mutation posing a risk of disorder is not found, the doctor will move to other diagnostic approaches.
• Uncertain: A genetic mutation is found, but the details about the same are limited.

Bloom IVF: Providing Premium and Accurate Genetic Testing Services to Patients Since Decades

If you are willing to know more about how DNA tests work, whether your genetic history poses a risk to your future children, or what the genetic testing cost is, you need to get in touch with the best experts. These are available at Bloom IVF.

Bloom IVF is the most trusted center for those willing to get their genes tested. We have state-of-the-art equipment for carrying out these tests. Furthermore, our doctors are compassionate individuals who are eager to help you.

In addition to genetic testing, we also offer services and treatments such as IUI treatment, Azoospermia treatment, and all kinds of freezing, including semen freezing and egg bank.

• Thin Endometrium
• Bilateral Tubal Blockage
• Social Egg Freezing
• Embryo Pooling
• Freeze All Strategy
• PCOD

Bloom IVF Promises the Most Affordable Genetic Testing Cost in India: Call us Today!