4 Elliot Way, Suite 203
Manchester, NH 03103
Elliot’s Screening Plus (ESP) Program provides the highest level of screening currently available. Your wishes and goals for screening are discussed and the ESP is tailored to your needs.
As part of the ESP Program, you will first meet with a genetic counselor to review the process and options for screening. The genetic counselor will coordinate your testing and report all results to you and your obstetric provider.
The ESP Program will typically include:
First trimester screening (FTS) and sequential screening(SEQ) combine the nuchal translucency ultrasound with analysis of markers in a mother’s blood to screen for Down syndrome, trisomy 18 and spina bifida. This screening is currently the standard of care in lower risk women. It is less sensitive than NIPT, but still identifies over 85% of babies with these conditions.
Non-invasive prenatal testing (NIPT) allows us to analyze pieces of DNA from the pregnancy in mother’s blood. Currently, NIPT can screen for Down syndrome, trisomy 18, trisomy 13 and other chromosome conditions. NIPT is far more sensitive and accurate than traditional screening. As with any new technology, there are considerations that are unique to NIPT and are important to discuss with a genetic counselor prior to testing.
The nuchal translucency is a measurement of a pocket of fluid under the skin at the back of a baby’s neck. It is performed at 11-14 weeks of pregnancy. Babies with Down syndrome and other chromosome conditions often have extra fluid, resulting in an increased measurement. Nuchal translucency is also an early predictor of birth defects, other rare genetic syndromes and overall pregnancy health.
Carrier screening looks for conditions that are inherited from both parents. A blood test is done to look for common mutations in a particular gene that are know to cause a disease. Traditional carrier screening analyzes one gene or condition per blood test. Cystic fibrosis screening is an example of traditional carrier screening. Expanded carrier screening allows us to look for common mutations in multiple genes with a single blood test.