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Prenatal Genetic Testing

Pregnancy is an exciting time and one filled with anticipation in learning about your baby’s health. Pregnant patients and those considering getting pregnant can learn about the health of their baby and potential health risks through genetic screening and diagnostic tests. Genetic counselors provide patients with results and information as quickly as possible. 

Benefits of Prenatal Testing

Prenatal screening is helpful for pregnant women, especially those who may be older, in deciding whether to have further diagnostic testing early in their pregnancy. Risk assessment may include blood test results and ultrasound measurements and incorporates factors such as age, ethnicity, medical and family history, to determine risk of pregnancy abnormalities. 

Genetic Counseling 

Our dedicated genetic counselors help families understand the risk of genetic disorder based on family medical history and the tests available to them. They also provide education based on test results, inheritance tracking, family history and what those factors mean for reproduction. 

Common prenatal tests and screenings

Speak with your doctor about potential false-positive results.

First Trimester

First Trimester Screen

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

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.

Chorionic Villus Sampling (CVS)

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.
 

Second Trimester

Second Trimester Quad Screen

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

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.

Types of genetic tests available from an amniocentesis or CVS procedure

Amniocentesis

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.

Chromosomal Microarray Analysis

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.

Chorionic Villus Sampling

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.

Fluorescence in Situ 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

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

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.