Prenatal Evaluation in New Jersey

A handful of different invasive and non-invasive tests may be used for prenatal diagnosis, where we use unique techniques and procedures to determine the health and conditions, if any, of an unborn fetus. Prenatal diagnosis is performed in hopes that the fetus is carried to term and born successfully, and the mother remains as safe as possible during this process.

 

Reasons for Undergoing Prenatal Diagnosis

Pregnant women who undergo prenatal diagnosis do so for several reasons. As mentioned, a large purpose of the diagnosing process is to assess for congenital anomalies, which account for 20 to 25% of perinatal deaths. Pregnant women come to our office to undergo prenatal diagnosis to manage the rest of her pregnancy in a more efficient way, determine her pregnancy’s outcome, plan for any possible complications regarding the birth process, plan for issues that could be present in the newborn, make sure the baby is born in the safest possible situation, and find any conditions that could affect other pregnancies in the future.

 

How We Test and Evaluate an Unborn Fetus 

Ultrasounds  

Both 3D and 4D ultrasounds are used to diagnose structural aspects of a fetus while it still exists in the mother’s uterus, and they are a crucial part of diagnosing any issues with the fetus in the prenatal stages. Physicians use ultrasounds to routinely check the size, location, age and number of fetuses in the womb, any present birth defects, the volume of amniotic fluid, movement of the fetus, breathing and heartbeats. During an ultrasound, a transducer and handful of gel are used on the pregnant woman’s abdomen, which emits the image and audio of the fetus and its environment.

Non-Invasive Testing

Some tests, such as amniocentesis and chorionic villi sampling (CVS), are invasive. At our office, however, we also offer our patients NIPT – a simple blood test that is non-invasive to you and your baby. NIPT or non-invasive prenatal testing can detect up to 99% of fetuses with Down syndrome, other chromosomal abnormalities like trisomy 18 and 13, and sex chromosome irregularities. With a higher success rate and lower false positive rates than other available screenings used in the first trimester, it has become an extremely common screening test for pregnant women.

Genetic Counseling 

During the early stages of pregnancy, women may undergo genetic counseling, conducted by one of our genetic counselors on staff. A prenatal genetic questionnaire and review of your medical history will occur, and the counselor will discuss inherited medical traits from your family. After that takes place, a standard genetic analysis will determine the risks your child could have, and any birth defects or genetic conditions that may be more likely for your pregnancy. This will be discussed with you, and your genetic counselor will talk to you about certain testing options, accompanying risks, benefits and limitations. Genetic counseling is highly recommended for a woman who is 35 or older, couples who are first cousins, those who have abnormal results from previous genetic screenings or tests, and those with a family history of inherited disorders.

Genetic Screening 

Different from genetic counseling, genetic screening addresses a woman’s risk to give birth to a baby with any chromosomal abnormalities and the conditions associated with them. Some genetic screenings are performed during the first trimester, usually between the 10th and 13th week of pregnancy, although they can be done in the second trimester as well. These tests evaluate the substances in a pregnant woman’s blood and ultrasound of the fetus.

Chorionic Villus Sampling (CVS) and Amniocentesis

New Jersey Perinatal Associates offers prenatal diagnostic procedures to expecting mothers where there have been abnormal ultrasound findings, positive results from prenatal screening evaluations, previous pregnancies affected by a chromosomal condition, if you are 35 years or older, if there is a family history of a specific genetic condition requiring diagnosis, or if you desire additional reassurance about the well-being of your pregnancy. Occasionally, testing is performed later in pregnancy to test for infections.

 

 Chorionic villus sampling (CVS) is a prenatal diagnostic test done in the first trimester. A sample of the placenta is removed either through the abdominal wall (transabdominal) or through the cervix (transcervical). Ultrasound guidance allows a thin tube or needle to retrieve the tissue sample, while safely monitoring your baby.

 

 Amniocentesis may be performed starting in the 16th week of pregnancy. This procedure involves removing a small amount of fluid from around the fetal sac and is performed with a needle transabdominally.

 

 All of our physician providers are experienced in performing CVS and amniocentesis. Along with our genetic counseling team, we will help you to understand the sampling results. Our health care team is here to support you and your loved ones if you are faced with difficult decisions.

 

Prenatal Tests and Screenings in New Jersey

If you’re interested in receiving a prenatal diagnosis, please contact the New Jersey Perinatal Associates office by calling one of our five locations.