The month of March is observed as “National Trisomy Awareness Month” in the United States. Sponsored by the National Institutes of Child Health and Development (NICHD) and other support organizations for Trisomy 18, 13 and related disorders, the campaign aims to raise awareness about the trismomy conditions and the challenges these conditions may pose to individuals and families. Regarded as a chromosomal disorder, trisomy is caused by an alteration in the number or genetic structure of chromosomes. Genes are the blueprint for our bodies and every cell in the body has a copy of the blueprint (stored inside a sac called the nucleus). Genes are beaded along chromosomes – which are tightly bundled strands of the chemical substance deoxyribonucleic acid (DNA). Most people usually have 23 pairs of chromosomes, with two sex chromosomes that determine sex and 44 chromosomes that direct other factors, such as growth and function. A trisomy occurs when a person has 47 chromosomes instead of 46. The condition occurs when a particular chromosome is replicated three times upon conception. The addition of an extra chromosome usually occurs spontaneously during conception. The exact cause of this condition is unknown. Down syndrome (Trisomy 21), Edward syndrome (Trisomy 18) and Patau syndrome (Trisomy 13) are the most common forms of trisomy. Treatment is based on support and managing symptoms. Proper documentation is important to ensure appropriate care and for accurate clinical documentation of this condition, physicians rely on the services of reliable medical billing and coding outsourcing companies.
Reports suggest that about 1 in 700 babies born in the United States are born with Trisomy 21, and 6,000 babies total are born with it every year. Trisomy 18 occurs in about 1 in 5,000 live-born infants in the United States, but many fetuses with this syndrome do not survive to term. Those children who survive past their first year usually have severe intellectual disabilities. Children affected by trisomy usually have a range of birth anomalies, including delayed development and intellectual disabilities. The most important risk factor for trisomy conditions is maternal age. Women in their late 30s and 40s have a higher chance of trisomy conditions occurring. The risk to having a baby with trisomy 18 or 13 does increase slightly with each added year of maternal age. Potential complications of Trisomy 18 and 13 include developmental delays, heart defects, kidney malformation, and head and facial abnormalities. Babies are often born with extra fingers and toes, spina bifida and a cleft palate.
The campaign is a special platform to generate widespread awareness about the signs and symptoms associated with the condition. In most cases, the signs of Trisomy may become evident during the time of pregnancy. Common signs and symptoms include – too much amniotic fluid surrounding the baby (polyhydramnios), a smaller than expected placenta, only one umbilical cord artery, the baby is small for its gestational date, the baby is less active than expected and congenital defects like cleft palate or heart irregularities- which are most commonly identified during the time of diagnosis.
As Trisomy 18 and 13 have a unique group of characteristics, a physician may be able to determine whether a baby suffers from the condition through a detailed physical examination. To confirm the physical findings, a small blood sample can be taken and the chromosomes can be analyzed to determine the presence of an extra chromosome. Chromosomal abnormalities can be diagnosed before birth by analyzing cells in the amniotic fluid (amniocentesis) or from the placenta. Prenatal tests that can help detect trisomy disorders include – Ultrasound scans, maternal serum scans (a specialized blood test), amniocentesis (examining a sample of the amniotic fluid), chorionic villus sampling (examining a sample of cells from the chorion – the tissue that will ultimately become the placenta), non-invasive prenatal testing (NIPT – measuring fetal DNA circulating in the mother’s blood). Fetal ultrasound during pregnancy can also give information about the possibility of trisomy 18 or 13.
The month-long campaign aims to educate people about all forms of Trisomy, support families currently experiencing trisomy and help people with developmental disabilities achieve their full potential. There is no specific cure for Trisomy 18 and 13 at this time. Physicians are not sure how to prevent the chromosomal errors that cause the condition. Treatment for this condition is based on support and managing symptoms. In fact, many babies born with these disorders may not live beyond the first few days or weeks of life. It is important to discuss whether to use life support measures or other medical procedures. If your child has been diagnosed with a trisomy condition, it is important to seek the help of a genetic counselor. Genetic counselors are health professionals qualified in both counseling and genetics. By providing emotional support, they can help you to understand your child’s condition, what causes it, and what a diagnosis means for your child’s health and development. Genetic counselors are trained professionals who provide information and support that is sensitive to your family circumstances, culture and beliefs.
Physicians have to report the diagnosis, screening tests and other procedures using the correct medical codes. Medical billing services offered by experienced medical billing and coding companies ensure this so that accurate claim submissions are done. ICD-10 codes for Trisomy diagnosis include –
Q90 – Down syndrome
- Q90.0 – Trisomy 21, nonmosaicism (meiotic nondisjunction)
- Q90.1 – Trisomy 21, mosaicism (mitotic nondisjunction)
- Q90.2 – Trisomy 21, translocation
- Q90.9 – Down syndrome, unspecified
Q91 – Trisomy 18 and Trisomy 13
- Q91.0 – Trisomy 18, nonmosaicism (meiotic nondisjunction)
- Q91.1 – Trisomy 18, mosaicism (mitotic nondisjunction)
- Q91.2 – Trisomy 18, translocation
- Q91.3 – Trisomy 18, unspecified
- Q91.4 – Trisomy 13, nonmosaicism (meiotic nondisjunction)
- Q91.5 – Trisomy 13, mosaicism (mitotic nondisjunction)
- Q91.6 – Trisomy 13, translocation
- Q91.7 – Trisomy 13, unspecified
Q92 – Other trisomies and partial trisomies of the autosomes, not elsewhere classified
- Q92.0 – Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)
- Q92.1 – Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
- Q92.2 – Partial trisomy
- Q92.5 – Duplications with other complex rearrangements
During March, the NICHD and other support groups join other agencies and organizations in raising awareness about trisomy conditions and the challenges they may pose to individuals and families. As part of the campaign, local groups, medical professionals and online communities offer education, encouragement and counseling for those managing trisomy pregnancies or raising trisomy affected children. The event also encourages people to show their support by making posts under the hash tag – #NationalTrisomyAwarenessMonth via several social media platforms.
Celebrate National Trisomy Awareness Month This March! Lend support to a family you know who has a child living with a form of Trisomy.