Genetic Screening

What is Prenatal Genetic Screening?
Prenatal genetic screening is a type of testing that helps expectant parents learn more about their baby's health. It's important to note that screening is different from diagnostic genetic testing. Screening estimates the likelihood of certain abnormalities, while genetic testing can provide more definitive diagnosis. Pregnant women in New Jersey have access to a variety of screening options, including non-invasive prenatal testing (NIPT) for conditions like Down syndrome.
What are the Chances of My Child Being Born with a Genetic Disorder?
The chances of having a child with a genetic disorder depend on several factors, including the results of prenatal screening, family genetic history, and both the mother’s and father’s ages. On average, 1 in 33 babies is born with some type of birth defect, making it more common than many people realize. Screening for conditions like cystic fibrosis, additional chromosomes or sickle cell anemia can provide important information that helps guide how the rest of a pregnancy and even delivery is approached.
Types of Prenatal Genetic Screening Tests
There are several types of prenatal genetic screening tests available to assess the risk of your baby being born with certain disorders. These tests often analyze substances in the mother's blood that are associated with genetic disorders.
Types of tests include:
- Carrier Screening: Involves a blood or tissue sample (usually from the inside of the cheek) to check for inherited genetic disorders. This can be done before or during pregnancy.
- Nuchal Translucency Screening: Assesses the risk of conditions like Down syndrome , Turner syndrome, or congenital cardiac disease by measuring the fluid at the back of a baby’s neck in the first trimester.
- Ultrasounds: Used to evaluate the baby’s body and to detect physical abnormalities in the brain, spine, heart, limbs, and other areas.
When is the Best Time for Prenatal Genetic Screening?
The timing of prenatal genetic screening depends on the type of evaluation. First-trimester screening typically occurs between the 10th and 13th weeks’ of pregnancy. Second-trimester screening, including an extensive ultrasound is generally performed between the 20th and 22nd week. Sometimes, an earlier survey of the baby may be recommended between 16-17 weeks’. If a screening evaluation indicates an increased risk for a genetic disorder or physical difference in a baby, further diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis, may be recommended for confirmation.
Genetic Screening at New Jersey Perinatal Associates
Pregnancy is an exciting time, but it can also bring uncertainty, especially when genetic concerns arise. At New Jersey Perinatal Associates, we provide comprehensive prenatal screening services to help you prepare. Our compassionate team is here to answer all your questions and guide you through the process, so you can feel confident in making informed decisions about your baby’s health.