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Screening for Chromosomal Abnormalities and Birth Defects

Following your initial pregnancy confirmation, we offer a series of screenings and examinations throughout each trimester to monitor your baby's development. These evaluations provide vital information regarding your prenatal care, including the risk of chromosomal abnormalities such as Down syndrome.

While these tests are optional, we encourage you to discuss all available options with your healthcare provider to determine which path is right for you.

Who Should Consider Screening?

Any expectant mother may choose to undergo genetic screening. However, certain factors may make these tests particularly important, including:

  • Being over the age of 35
  • Having a personal or family history of specific genetic conditions
  • Being a known carrier of a genetic disorder
  • Having a previous child born with birth defects or genetic abnormalities

Available Screening Options

Genetic Carrier Screening

Recommended for all patients by the American College of Obstetricians and Gynecologists (ACOG), this blood test identifies if parents carry genes for conditions such as Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X syndrome that could be passed to the baby.

Cell-Free DNA Testing (NIPT)

This non-invasive blood test analyzes fragments of fetal DNA within the mother’s blood to screen for Down syndrome and other chromosomal conditions. Available as early as 10 weeks, it can also determine the baby’s sex. This is frequently recommended for women over age 35.

First Trimester Screen (Nuchal Translucency)

Typically performed between 11 and 13 weeks, this ultrasound measures the fluid-filled space at the back of the baby’s neck. An abnormal measurement (greater than 3mm) may indicate an increased risk for structural issues or cardiac defects. This test is recommended for all patients.

MSAFP Screen

Performed between 15 and 18 weeks, this screening uses ultrasound and lab work to look for open neural tube defects, such as spina bifida. This is a standard recommendation for all pregnancies.

Anatomy Ultrasound

Scheduled around 20 weeks, this comprehensive scan evaluates the baby’s growth, weight and internal anatomy. It is used to identify potential birth defects or other abnormalities that could impact the pregnancy.

Understanding Your Results

  • Once your screenings are complete, your provider will review the findings with you to determine if the pregnancy falls into a low-risk or high-risk category.
  • Low-Risk Results: Indicate a very low probability that the baby will be born with the screened chromosomal abnormalities.
  • Increased Risk Results: If a screen suggests an elevated risk, your provider will discuss the next steps, which may include diagnostic procedures such as Amniocentesis or Chorionic Villus Sampling (CVS).

Our team is here to help you understand every procedure and its associated risks, ensuring we create a personalized care plan that supports both you and your baby.