Nuchal Translucency - Prenatal Genetics
Redesigning care, with your safety top of mind.Hospitals and medical offices are now permitted to see patients for all types of care, including elective surgery. We have been working hard to ensure that the hospital and physicians' practices are ready for you. Please call your provider or login to MyChart to schedule an in-person or telehealth video visit today!
Keeping You SafeHospitals and medical offices are now permitted to see patients for all types of care, including elective surgery. We have been working hard to ensure that the hospital and physicians' practices are ready for you. We have redesigned the way we provide care with your safety in mind.
We will continue to offer telehealth video visits for anyone who prefers that option. However, we want to reassure you that we are taking the necessary steps to protect your safety when you need to come to the hospital, a primary care office, or one of our specialty practices.
Some of the measures GBMC Health Partners is taking to protect patients include:
- GBMC Health Partners is seeing patients in person and via telehealth video visits. Using video visits allows you to talk with your doctor without leaving home. This reduces the number of patients coming through the office and decreases the potential for inadvertent exposure of patients and staff to COVID-19. Thus, in-person visits can be done safely for those who need them. We encourage you to utilize MyChart for your telehealth needs, and you can also call your doctor if you need help. We are ready to assist you.
- Extensive cleaning of all work spaces and patient areas is performed between encounters and throughout the day.
- All patients, providers, and staff members attest to COVID related symptoms upon arrival and must wear masks (along with other appropriate personal protective equipment "PPE" if necessary).
- All patients are asked COVID-19 screening questions when they make their appointment and again when they arrive. Patients are given specific appointment times to limit the number of people in the offices at one time, and are kept in private exam rooms during their visits.
- To allow for safe distancing, our office hours may be adjusted during this time, and offices themselves have been rearranged. In certain locations, there may be physical barriers in place, and in some cases, family members may be asked to wait in their vehicles. One family member or friend may accompany a patient to the appointment.
- All surgical patients are tested for COVID-19 pre-operatively.
- COVID-19 positive patients and patients under investigation (PUIs) who require hospital admission are sequestered in the hospital. Outpatients who are COVID-19 positive or PUIs are encouraged to utilize telehealth video visits to determine whether in-person care is needed.
Increased nuchal translucency is defined as an abnormal collection of fluid under the skin at the back of the fetus' neck. In the majority of cases, the fluid disappears and has no effect on the baby. However, abnormal nuchal translucency is an ultrasound "marker," which indicates increased risk for certain problems.
Approximately 20-60% of babies who demonstrate an increased nuchal translucency on ultrasound may have an associated chromosome abnormality, particularly Down syndrome or Turner syndrome. Chromosomes are the inherited structures in the cells of the body. There should be 46 chromosomes in each cell, arranged into 23 pairs. Chromosome abnormalities involving a missing or extra chromosome are not usually inherited and are not caused by an exposure during pregnancy. Instead, they are caused by random events in cell division at the time of conception and can occur in anyone's pregnancy. Individuals with Down syndrome have an extra #21 chromosome, thus three rather than two copies of chromosome 21. It is this extra genetic material that causes the features of Down syndrome, including intellectual disability, a characteristic facial appearance, and other health problems. Turner syndrome is caused by a missing sex chromosome. Individuals with Turner syndrome are always female, are typically short in stature and infertile, and may have heart and/or kidney problems.
Nuchal translucency measurement can be combined with maternal serum information for First Trimester Screening.
Prenatal diagnosis by CVS or amniocentesis is available to test for these chromosome abnormalities during pregnancy.
Increased nuchal translucency has also been associated with an approximate 5-20% risk for a defect of the heart. A detailed ultrasound performed at 18-20 weeks can help identify these birth defects. A specialized ultrasound, called an echocardiogram, is used to look specifically at the structure of the heart.
Babies with increased nuchal translucency are also at increased risk to be affected with certain genetic syndromes or skeletal disorders caused by gene changes (mutations). Genes are the units of heredity that make up the chromosomes. Genes are not visible when looking at a picture of chromosomes. However, DNA testing is available for certain genetic syndromes caused by gene mutations. If there are indications within the family history or by ultrasound that implicate a certain genetic syndrome, DNA testing for that syndrome may by available prenatally through CVS or amniocentesis.
It is important to remember that excess increased nuchal translucency may be a normal variant in a baby and cause no health problems.