October is Down Syndrome Awareness Month

According to the National Down syndrome Society, in the US, 1 in 772 live births result in a Down syndrome diagnosis, making Down syndrome the most common chromosomal condition. The month of October is Down Syndrome Awareness Month, giving families, individuals, and patients the opportunity to share information about the condition, learn more, and contribute to creating an environment of understanding, inclusion, and acceptance.

What is Down Syndrome?

Down syndrome is a genetic condition that occurs when an individual has a full or partial extra copy of chromosome 21 and the extra genetic material changes how their bodies grow and learn. Regardless of race or economic status, Down syndrome can happen to any family. It is known however that older women have an increased chance of having a child with Down syndrome. According to the National Down Syndrome Society, a 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and by the age of 40, the chance increases gradually to 1 in 100. By age 45, the incidence of Down syndrome is 1 in 30.

As many families opt to postpone building a family to later in life, the incidence of Down syndrome is expected to increase. Fetal chromosomal abnormality is a prominent cause of newborn birth defects, according to the March of Dimes.  As a result, genetic testing and counseling for parents-to-be are becoming more relevant and important.

Noninvasive Prenatal Screening (NIPS)

NIPS, or noninvasive prenatal screening, can be an important factor in learning more about a fetus’s health and genetic conditions caused by chromosomal abnormalities, and while genetic testing during pregnancy may seem complex, results can yield empowering and helpful information for growing families.

The NIPS blood test can be performed after the 10th week of pregnancy and is considered noninvasive because it is performed on a blood sample from the mother without harming the fetus.2 These screenings are not diagnostic tests, but can help identify the potential risk for a genetic disorder.

NIPS screening is most commonly used by healthcare providers for early detection of a chromosomal abnormality such as: 

  • Down syndrome (Trisomy 21): caused by an extra chromosome 213 
  • Edwards syndrome (Trisomy 18): caused by an extra chromosome 184 
  • Patau syndrome (Trisomy 13): caused by an extra chromosome 135 
  • Sex chromosome abnormalities (SCA): caused by extra or missing copies of X or Y chromosomes2 

ClariTest® Core Noninvasive Prenatal Screen 

The non-invasive prenatal screen ClariTest® Core from GenPath Women’s Health, a division of BioReference®, is performed using the most widely studied NIPS method, with over 60 published studies demonstrating its accuracy. ClariTest® Core is an evidence-based option that screens for the most common chromosomal abnormalities and fetal sex, with the option to screen for just one microdeletion – 22q syndrome, also known as DiGeorge syndrome. 

ClariTest® Core can be an important step in your prenatal care and can provide you and your healthcare provider with valuable information about your pregnancy. Based on recommendations by American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine, all pregnant women, regardless of age or baseline risk, have the option of choosing NIPS. If you are pregnant, take time to discuss preferred and appropriate test options with your healthcare provider.

If you are a healthcare provider, click here to learn more about ClariTest® Core

Sources: 

  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642313/#jcla22911-bib-0002  
  2. https://medlineplus.gov/genetics/understanding/testing/nipt/ 
  3. https://medlineplus.gov/genetics/condition/down-syndrome/  
  4. https://medlineplus.gov/genetics/condition/trisomy-18/  
  5. https://medlineplus.gov/genetics/condition/trisomy-13/  
  6. https://www.acog.org/advocacy/policy-priorities/non-invasive-prenatal-testing  

Este sitio web (y las páginas contenidas) estan desactivado. Si se necesita asistencia en español u otro idioma, por favor llame sin cargas a 800 229 5227.

CodeSST
SST Tube
NameSST Tube
CodeBML
Bone Marrow - Lavender Top
NameBone Marrow - Lavender Top
CodeLAV
Lavender top- EDTA
NameLavender top- EDTA
CodeFLUL
Fluid Lavender  (source required)
NameFluid Lavender (source required)
CodeTAN
Tan Top
NameTan Top
CodeYEL
Yellow top- ACD
NameYellow top- ACD
CodeYELS
Yellow top- SPS
NameYellow top- SPS
CodeRBP
Blue-Royal Blue Top K2 EDTA Plasma(*LAVENDER LINE)
NameBlue-Royal Blue Top K2 EDTA Plasma(*LAVENDER LINE)
CodeRBS
Blue-Royal Blue Trace Element Serum (**RED LINE**)
NameBlue-Royal Blue Trace Element Serum (**RED LINE**)
CodeURB
Blue-Royal Urine
NameBlue-Royal Urine
CodeGRY
Grey top- Sodium Fluoride
NameGrey top- Sodium Fluoride
CodeBMG
Bone Marrow - Green Top
NameBone Marrow - Green Top
CodeUG
Green top urine
NameGreen top urine
CodeUGTP
Green top urine (preservative)
NameGreen top urine (preservative)
CodeFLUG
Fluid Green Top
NameFluid Green Top
CodeQFT
Green Top-Lithium Heparin
NameGreen Top-Lithium Heparin
CodeFLUR
Fluid Red Top
NameFluid Red Top
CodeLTB
Light blue top
NameLight blue top
CodePPT
White Top (PPT)
NameWhite Top (PPT)
CodeACDNA
Ariosa Cell-Free DNA (White TopTube)
NameAriosa Cell-Free DNA (White TopTube)
CodeTP
ThinPrep Vial
NameThinPrep Vial
CodeSPTH
Surepath Vial
NameSurepath Vial
CodeO&P
O&P Kit (Total Fix)
NameO&P Kit (Total Fix)
CodeU24
Urine Container - 24hr
NameUrine Container - 24hr
CodeUA
Urine Urinalysis Tube - Yellow
NameUrine Urinalysis Tube - Yellow
CodeCUL
Swab-Bacterial Culture
NameSwab-Bacterial Culture
CodeES
Swab-E
NameSwab-E
CodeAPT
Swab-Aptima Genprobe
NameSwab-Aptima Genprobe
CodeUGP
Urine Container-Genprobe-Aptima
NameUrine Container-Genprobe-Aptima
CodeBDA
Affirm(BD) VPIII
NameAffirm(BD) VPIII
CodeRED
Red Top Plain
NameRed Top Plain
CodeUGY
Urine Tube - Grey Top
NameUrine Tube - Grey Top