July 12, 2024

Supporting Your Journey Through Parenthood

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Journey in Parenthood

The journey of parenthood is an exciting experience, filled with anticipation and many decisions to ensure the health and well-being of both mother and baby.

Among these many tests and decisions are prenatal screenings, such as carrier screening, noninvasive prenatal screening, and glucose testing.

These screenings can help patients understand the current and future health of their baby.


Carrier Screening

Carrier screening is a blood test performed on asymptomatic individuals to determine whether they carry a genetic variation associated with a particular disorder. These genetic variations can be passed onto a person by their parents.

Carrier screening is often used to look for recessively inherited diseases, which means the suspected carrier usually has no symptoms of the disease. However, if both parents are carriers for the same genetic disease, it can be passed onto their children and cause symptoms. Some of these genetic diseases include sickle cell disease, thalassemia, cystic fibrosis, and spinal muscular atrophy.


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Noninvasive Prenatal Screening

During pregnancy, there are different types of screening options for your baby’s health. One type of screening can assess your baby’s risk for certain genetic disorders. Prenatal genetic tests can screen the baby for conditions such as aneuploidy of certain chromosomes, defects of the brain and spine called neural tube defects, and some defects of the abdomen, heart, and facial features.
Noninvasive Prenatal Screening (NIPS) is a simple blood test that can help patients understand the health of their baby. A small amount of DNA is released from the placenta into a pregnant woman’s bloodstream. Using NIPS, this DNA is screened for Down syndrome, (trisomy 21), Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), and problems with the number of sex chromosomes. .
Additionally, NIPS can identify the baby’s sex. This test is a less invasive and more accessible option, and it can be done starting at 10 weeks of pregnancy. A positive NIPS result can be followed by a diagnostic test such as amniocentesis or chorionic villus sampling.


Glucose Testing

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Glucose testing checks for gestational diabetes, which is a short-term form of diabetes that can affect patients during pregnancy. Testing for gestational diabetes usually occurs between 24 and 28 weeks of pregnancy but may happen sooner if risk factors are present. Some risk factors for gestational diabetes include a personal or family history of diabetes, being overweight, or having polycystic ovarian syndrome.

Two different tests may be used to screen for gestational diabetes: glucose challenge test or the oral glucose tolerance test. Sometimes both tests may be used. These blood tests show how well your body uses glucose.

The glucose challenge test is a non-fasting screening where blood is drawn an hour after consuming a glucose solution. The oral glucose tolerance test requires fasting for at least 8 hours; patients then drink a glucose solution and have blood drawn every hour for 2 to 3 hours to assess levels.

Gestational diabetes increases the risk of developing preeclampsia, a higher chance of a cesarean section due to large baby size, and a greater likelihood of developing type 2 diabetes later in life. Gestational diabetes can cause problems in babies, too, such as early birth, excessive birth weight, delivery complications, hypoglycemia, breathing problems, increased risk of miscarriage or stillbirth, and a higher likelihood of the child becoming overweight and developing type 2 diabetes later in life.


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These tests provide information about potential genetic conditions, chromosomal abnormalities, and gestational diabetes, which enable patients to make informed decisions and take proactive steps for their family’s health. Prenatal testing can be daunting, but being informed about your and your baby’s health can help you plan and can make the process of pregnancy less stressful.

Partnering with trusted healthcare providers like HNL Lab Medicine can offer the support and expertise needed to complete these screenings with confidence and ease. Embrace this journey with the assurance that you are well-equipped to provide the best care for your growing family. For more information about genetic testing, visit HNL Genomics.


The National Institute of Diabetes and Digestive and Kidney Diseases. (2017, May). Gestational diabetes. U.S. Department of Health and Human Services. https://www.niddk.nih.gov/health-information/diabetes/overview/what-is-diabetes/gestational.
American College of Obstetricians and Gynecologists. (2023, November). Prenatal genetic screening tests. https://www.acog.org/womens-health/faqs/prenatal-genetic-screening-tests.