Prenatal Genetic Testing

Chorionic Villus Sampling (CVS) This is a type of diagnostic test that can be performed through the abdomen or through the cervix. Learn about the different types of genetic testing performed during a CVS in the last section of this page.

First Trimester Screen (nuchal translucency, hCG, and PAPP-A) is usually performed during weeks 11-13 of pregnancy. It is a noninvasive test that combines a mother's blood screening with an ultrasound of the fetus. The test includes nuchal translucency, a portion that can help discover other potential abnormalities, including heart disorders. Primarily, the test is for chromosomal abnormalities, including Down syndrome.

Noninvasive Prenatal Screening (NIPS/NIPT) is a blood test drawn from the pregnant person to screen for the risk of Down syndrome as well as Trisomy 18, Trisomy 13 and sex chromosome issues. This technology is able to identify DNA from the pregnancy circulating in the patient’s blood.

Amniocentesis (also referred to as amniotic fluid test or AFT) Is a procedure where a small amount of amniotic fluid is taken from the amniotic sac that surrounds the fetus. Learn about the different types of genetic testing performed during an amniocentesis in the section below.

Second Trimester Quad Screen (AFP, hCG, Estriol, Inhibin-A) is performed during weeks 16-18 of pregnancy. This blood test measures levels of alpha-fetoprotein (AFP), a fetus-produced protein; human chorionic gonadotropin (hCG), a hormone made in the placenta; estriol, an estrogen formed by the mother and the placenta; and inhibin-A, a protein produced in the placenta and in the ovaries. It tests for Down syndrome, Trisomy-18, and other chromosomal abnormalities. It can also help evaluate the chance for neural tube defects, such as spina bifida, and abdominal wall defects, such as omphalocele.

Amniocentesis (also referred to as amniotic fluid test or AFT) Is a procedure where a small amount of amniotic fluid is taken from the amniotic sac that surrounds the fetus. Learn about the different types of genetic testing performed during an amniocentesis in the section below.

Chorionic Villus Sampling (CVS) is performed during weeks 10-14 of pregnancy. A sample of tissue from the placenta is evaluated to identify chromosomal abnormalities and other inherited disorders, including Down syndrome and cystic fibrosis. This is a type of diagnostic test and can be performed through the abdomen or through the cervix.

Chromosomal Microarray Analysis (CMA) is a comprehensive prenatal genetic test that detects numerous genetic conditions, more than those found in a standard chromosome analysis. It is also known as as an array comparative genomic hybridization.

Fluorescence in Situ Hybridization (FISH) detects chromosomal abnormalities and other genetic mutations in a baby’s cells. FISH test is a quick way to test for common chromosome abnormalities. Chromosome analysis or Chromosomal microarray analysis is also performed in addition to FISH testing for confirmation.

Standard Chromosome Analysis (karyotype analysis) looks for any changes or abnormalities in the chromosomes that make up the body’s DNA. This analysis looks at cells from the amniotic fluid, placenta or other fetal tissue to evaluate for missing or extra genetic information, which can lead to genetic syndromes.

Whole Exome Sequencing is a type of genetic sequencing to help understand the causes or symptoms of a disease through saliva or blood testing. If you have a health condition or family history of medical problems, we may be recommend this testing. If your doctor learns you have a genetic variant for a certain disease, they may be able to advise a proactive treatment plan.