After the initial thrill of a positive pregnancy test wears off, the next thing you should do is to schedule your first prenatal appointment. 

Throughout the next nine months, your doctor will recommend several tests to assess your and your baby’s health.

Some tests are designed to detect genetic or other health concerns that your kid may have. The aim is that with this knowledge, you can get good medical treatment for your child and feel informed about any health concerns.

Genetic testing allows parents (and doctors) to gain insight into their child’s development. It also aids in the identification of any hereditary abnormalities that require attention.

During pregnancy, the doctor may recommend some tests to everyone. The doctor can also recommend tests based on age, ethnicity, or family medical history. 

All in all, you will need to undertake genetic screenings or tests during your pregnancy.

Types of genetic tests

There are two types of prenatal genetic testing. The primary distinction between the two is that one examines the probability of problems, and the other gathers more thorough, definitive information for diagnosis. These tests include:

Screening

Screening procedures, such as blood tests or ultrasounds, are generally noninvasive and yield information that may suggest a baby has the potential for specific health conditions or congenital disabilities.

These tests neither offer nor confirm a diagnosis. In reality, screening tests may indicate a potential problem when there isn’t one. The downside is that they may miss present abnormalities.

Diagnostic

Diagnostic tests are more invasive — for example, retrieving placental fragments — and can provide definitive answers about health problems or birth deformities.

Diagnostic tests are frequently provided to women over the age of 35, those with a history of congenital disabilities, and those with specific health conditions such as diabetes, lupus, or high blood pressure.

Screening tests during different pregnancy stages

Screening tests typically yield a positive or negative result for specific diseases or birth abnormalities. You should note that the tests indicate the possibility of problems rather than confirming a diagnosis.

You can also do screenings in either the first or second trimester.

First trimester tests

The tests you can do at this time are:

Maternal blood screen: This test tests Human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) levels. Very low or very high amounts of these proteins may suggest a chromosomal abnormality in a baby.

Ultrasound: This imaging procedure, also known as a nuchal translucency (NT) scan, is carried out by placing a probe over the lower belly (abdominal ultrasound). The doctor can also insert it into the vagina (transvaginal ultrasound).

It photographs the developing infant and searches for fluid behind its neck. Excess fluid may suggest that the infant has a chromosomal problem or a congenital heart condition.

Second-trimester tests

Maternal serum screen: A blood test is used in this screening to look for markers of Down syndrome, Edwards syndrome), or neural tube abnormalities. You should do this test between weeks 15 and 17 for the best results, although you can do it between 14 and 20 weeks.

Anomaly ultrasound: This ultrasound examines your child from head to toe. Your doctor will examine your baby’s head size and any other potential physical concerns they might have.

The test is best done between weeks 18 and 20, and it is also the scan where you may learn the gender of your baby.

Combined first and second trimester screening

Instead of relying just on the results of one screening, your doctor may advise you to combine the results of a first and second-trimester screening.

The purpose of screening is to combine the information from several screenings, providing you with a more accurate result.

You should have your tests done by an expert for the best results.

This holiday season, JScreen, a non-profit initiative committed to preventing genetic diseases, is joining hands with the iconic kosher brand Manischewitz.

JScreen simplifies genetic screening by offering at-home saliva kits. Individuals and couples can gain detailed insights into their genetic makeup and the danger of delivering a kid with a genetic disorder.

If an elevated risk is discovered, JScreen’s genetic counselors conduct individual consultations via phone or video teleconferencing, and explore options that will help you with future child health planning.

Other genetic screening tests to consider

Besides the above tests, you can consider other tests such as: 

Cell-free DNA genetic screening DNA

Cell-free DNA genetic screening procedures, or noninvasive prenatal testing (NIPT), include a simple maternal blood test that looks for genetic information from the baby’s genetic material circulating in the mother’s blood.

This screening can detect Downs syndrome, Edwards syndrome, and sex chromosomal problems. It can also reveal the gender of the baby. This test is ideal after week 10 of pregnancy.

Carrier testing

This is another screening that you can perform before you get pregnant. It is intended for couples concerned about hereditary inherited illnesses in their families.

This testing can be performed before pregnancy and is often performed by obtaining a blood or tissue sample from the cheek.

Amniocentesis

Amniocentesis is best done between weeks 15 and 20 of pregnancy. However, depending on the circumstances, your doctor may recommend this diagnostic test at any point before birth.

Your doctor will put a tiny needle into the uterus to collect a small amount of amniotic fluid for analysis.

Ultrasound technology is used to guide the needle for safety. 

The risks of this test include bleeding and amniotic fluid loss, both of which usually resolve on their own. 

Amniocentesis carries a minor risk of pregnancy loss, so ensure that you have it done by an expert who knows what they are doing.

What the results of genetic testing mean

While most results may be “normal” or “negative,” this does not always imply that the kid is unlikely to have a genetic condition.

This is because no screening test result is a black-and-white or “yes”/”no” response regarding whether your child will have a specific ailment or birth defect.

Screenings highlight the possibility of specific diseases and birth abnormalities coming about. 

A positive result on a diagnostic test indicates that your kid is more likely to have the genetic issue or birth defect that the test was looking for.

If this occurs, your doctor will review your options and any additional care you may require during and after your pregnancy. 

Your doctor may also refer you to a specialist if you require additional information on the disorder.