Prenatal Diagnosis

Prenatal diagnostic testing refers to understanding the genotype of the fetus and is performed while the fetus is in-utero. Prenatal testing looks for chromosomal abnormalities, such as aneuplodies and micro-deletions. Detection of these abnormalities is often performed by cytogenetics or by non-invasive prenatal testing (NIPT), which involves collecting maternal blood and separating out the fetal DNA.

Through the Northwell Health Genomics Alliance, multiple methods of prenatal diagnostic testing are available, with the most commonly utilized tests listed below.

Commonly Ordered Tests

• B748 Noninvasive Prenatal Testing (NIPT) with 22Q11.2
• 410 Prenatal Targeted Chromosomal Microarray (CMA)
• 357 Prenatal Noonan Spectrum Disorders Panel
• 460 Prenatal Whole Genome Chromosomal Microarray
• 4341 Chromosome Analysis, Amniotic Fluid
• 1122 Amniotic fluid AFP for Open Spine/Abdominal Wall Defects

See All Tests for Prenatal Diagnosis