What is DNA testing (genetic testing)?

DNA (short for deoxyribonucleic acid) is a form of information stored within the nuclei of each of your body’s cells. It contains chemical sequences that hold the “instructions” your body needs to grow, survive, and be passed on to the next generation. Discrete DNA sequences responsible for making the proteins that keep your body functioning are called genes (though not all DNA is a gene).

DNA or genetic testing refers to any test that uses a DNA sample to tell you information about your body, your health, your heritage, or any other information with a genetic basis. People undergo genetic testing for all sorts of reasons, including:

• Identifying medical conditions caused by gene mutations
• Identifying medical conditions that you can pass down to your unborn children (carrier screening testing)
• Predicting your vulnerability to a specific medical condition that can be passed down familially or through specific ethnic groups
• Identifying the dose or type of medication that may work well to treat a diagnosed medical condition (pharmacogenetics)
• Identifying abnormalities in your unborn baby’s genes (prenatal testing)

All forms of genetic testing, including the prenatal DNA test and paternity test, are quite safe. Often, they involve a simple procedure of supplying a DNA sample—whether with a cheek swab or a small sample of blood—and sending it off to a qualified lab for screening.

If you’re considering exploring your genetic makeup, you might be wondering, “How much is genetic testing?” The cost of genetic testing can vary based on the type of test and the provider. So, check the different testing options available to you and consult with healthcare professionals to determine the most suitable and cost-effective choice for your needs.

In the realm of pregnancy, another useful tool is a pregnancy due date calculator. This tool estimates the delivery date based on the first day of your last menstrual period or the date of conception. While it provides an approximation, consulting with your healthcare provider remains essential for accurate information about your due date, the progression of your pregnancy, and the health of your baby.

Can pregnant women get DNA testing?

So, can you get a DNA test while pregnant?

The answer is yes—anyone can pursue genetic testing if they choose to do so. If you’re pregnant, you can still take a personal DNA test, but this will only screen your genetic material (not your baby’s).

A prenatal DNA test, on the other hand, is an effective and increasingly popular way of gathering a wealth of information about your child—whether about their paternity, health, or other data. Many procedures are non-invasive and are conducted by retrieving a sample of a baby’s DNA through their mother. A variety of options are available for prenatal testing, as well as genetic testing that may be administered after your baby is born.

Prenatal Genetic Testing: What Are My Options?

One of the most popular forms of prenatal DNA testing is NIPT or noninvasive prenatal testing. Certain countries, like the Netherlands, have adopted NIPT as a standard feature of prenatal care.

NIPT is typically offered to pregnant women soon after they’ve gotten pregnant. It involves giving a sample of the mother’s blood to screen an unborn baby’s DNA (which can be found in the maternal bloodstream) for specific conditions caused by genetic abnormalities. These include (but aren’t limited to):

• Down syndrome
• Edwards syndrome
• Patau syndrome

Not all NIPT tests screen for the same disorders, so you’ll want to speak with your healthcare provider to understand what type of information the test can offer. Though  noninvasive prenatal DNA testing isn’t diagnostic,  it can tell you whether your child may be likely to have a certain health condition or developmental disability.

NIPT can also be used to disclose your baby’s gender as early as 10 weeks into your pregnancy. These tests are highly reliable, as demonstrated by the NIPT test gender accuracy, which is reported to be over 99%. But beyond NIPT, there are several other forms of genetic tests available to expecting moms and parents who want to learn more about their children before they arrive.

Prenatal Genetic Testing

Prenatal genetic testing refers to any test that examines a fetus’ DNA during pregnancy for indications of genetic disorders. NIPT falls into this category and is considered the least invasive kind of procedure.

Prenatal testing is also conducted via two other methods, both of which are considered a degree more invasive:

• Chorionic villus sampling (CVS) – CVS involves retrieving a tissue sample from the placenta, either through your abdomen or through the vagina. It’s typically administered between 10 and 13 weeks of pregnancy.
• Amniocentesis – Amniocentesis involves taking a sample of amniotic fluid through the lower abdomen using a needle. It may be conducted anytime after 15 weeks of pregnancy.

Like NIPT, not every prenatal genetic test offers the same insights into your child’s health. Some sample genetic conditions that may be screened for include:

• Down syndrome
• Neural tube defects
• Tay-Sachs disease
• Sickle cell disease
• Cystic fibrosis

Preimplantation Testing (PGT-M)

PGT-M, or preimplantation testing-monogenic, is a form of genetic testing used by parents having a child through in vitro fertilization (IVF). Instead of screening fetal DNA, it examines an embryo’s genetic material before it’s transferred to the uterus.

PGT-M is only administered when a parent is worried they may pass a specific heritable genetic condition onto their child. Unlike other forms of genetic testing, it can’t run a comprehensive panel on a variety of genetic disorders.

Advocates of PGT-M emphasize the benefits of this mode of genetic testing for older parents. Women older than 37 and those who have dealt with miscarriage because of a chromosomal abnormality may use this form of testing to enter pregnancy with greater confidence in their ability to carry to term.

Newborn Screening

Women and parents who want to wait until after pregnancy to conduct genetic testing may also explore newborn screening, which tests newborn babies for genetic abnormalities. These screening tests are administered soon after a baby is born by taking a small (and quite painless!) sample of blood from your new baby.

Newborn screening tests can check for a wider range of medical conditions—up to 50 of them—that may not be achievable using prenatal testing. Some of them include:

• Congenital adrenal hyperplasia (CAH)
• Cystic fibrosis
• Hemoglobinopathy
• Hypothyroidism
• Sickle cell disease
• Phenylketonuria (PKU)

Newborn screening is extremely popular—some 95% of newborns in the US are tested annually, of which about 3,000 are found to have at least one of the conditions tested. This type of testing ensures infants are treated early, promoting improved health outcomes both immediately and as they grow.

Is genetic testing safe?

Generally speaking, yes. Procedures involved in genetic testing are very safe.

Slightly more invasive prenatal testings—specifically, CVS and amniocentesis—carry a slight risk of miscarriage (about 1 in 300 to 500). The main concern is infection, which in rare cases can be passed onto a fetus as the result of needle use.

Benefits of Prenatal Genetic Testing

Pregnant or not, genetic testing technologies have multiplied families’ ability to care for themselves and their loved ones with more refined insight. Many parents feel that the more they can learn about their baby—and the earlier they can learn it—the more equipped and confident they’ll feel as they embark on a new family chapter.

Prenatal genetic testing is typically associated with the following benefits:

• Informed medical decision-making – Beyond making (and keeping) your regular prenatal appointments, prenatal care can involve complex and even challenging choices regarding how to give your child the best life possible. Knowing what conditions they may be at risk for can help you make important choices about establishing your pregnancy health regimen, as well as making birth plans and preparing for potential emergency situations.
• Preemptive planning – Certain medical conditions can bear significantly on how you raise and care for your baby. If a prenatal test detects a need for intervention, you’ll know earlier and be able to adapt to any financial, practical, and emotional complications that may arise.
• Emotional security – Whether you’re concerned about passing on a condition that runs in your family or just want more confidence in your child’s well-being, prenatal testing offers a degree of psychological comfort. At times, the prospect of parenthood can feel uncertain, anxiety-provoking, or even daunting to many moms. Receiving concrete data about your child’s needs can help you start your journey with greater confidence.

Get to Know Your Child Better (and Sooner) with SneakPeek

Though some forms of prenatal testing can reveal your baby’s gender at 10 weeks into pregnancy, the SneakPeek test can break the news even earlier. If you’re as few as 6 weeks along, SneakPeek’s Early Gender Blood Test will tell you your future baby’s sex with over 99% proven accuracy and DNA-based results.

The process is simple: you’ll take your sample at home, mail it to SneakPeek labs, and we’ll triple-review your results and send them back on the same day we receive them. You’ll even receive a complimentary downloadable report you can share with your healthcare provider.

More than 1 million moms have trusted SneakPeek to get to know their baby earlier. Discover for yourself why SneakPeek is the #1-recommended at-home early gender test by ordering your test today.