Tag Archives: #Downsyndrome

Trisomy 21 (Down Syndrome)

trisomy-21-down-syndrome

© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech /Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Background: The breakdown of fetal cells in the maternal circulation make it possible for laboratories to screen for Fetal DNA during pregnancy. When fetal cells break down Cell Free DNA (cf DNA) is released.

It is possible to duplicate many copies of this DNA so that testing is possible.

This prenatal non-invasive testing can be performed as early as the 10th week of pregnancy.

Trisomy 21 (Down Syndrome) is characterized by three copies of chromosome #21 instead of the expected two copies.

http://www.ndss.org/

If a Maternal Fetal DNA test result comes back as “High Risk” for a chromosomal abnormality, the recommendation (1)

is to confirm the diagnosis by amniocentesis.

Ultrasound performed in pregnancy after 15 weeks gestation can help identify some babies with Trisomy 21.

Trisomy 21 Ultrasound “Markers”:

  • Nuchal Fold greater than or equal to 5 mm up to 18 weeks
  • Nuchal Fold greater than or equal to 6 mm from 18 to 22 weeks
  • Echogenic Bowel
  • Frontal Lobe greater than or equal to 2 weeks smaller than dates
  • Tricerebellar Diameter greater than or equal to 2 weeks smaller than dates
  • Longitudinal ear measurement more than one
  • Bilateral Hydronephrosis (fluid in the kidneys) greater than or equal to 4 mm
  • Missing small bone or triangular middle phalanx in the fifth digit (pinky)
  • Splaying of hips greater than 90 degrees
  • Big toes is spread from the rest of the toes
  • Humerus greater than or equal to 2 weeks smaller than dates
  • Femur greater than or equal to 2 weeks smaller than dates

(1)The American College of Obstetricians & Gynecologists, Committee Opinion Number 545 December 2012, Publications Committee, “NonInvasive Prenatal Testing for Fetal Aneuploidy”.

The American College of Obstetricians and Gynecologists Committee on Genetics, The Society For Maternal-Fetal Medicine

 

Down Syndrome (Trisomy 21) & Pregnancy Ultrasound “Markers”

7-1-16 Down Syndrome & Ultrasound Markers-min© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech Consultant

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

The breakdown of fetal cells in the maternal circulation make it possible for laboratories to screen for Fetal DNA during pregnancy. When fetal cells break down cell free DNA (cf DNA) is released.

It is possible to duplicate many copies of this DNA so that testing is possible. This prenatal non-invasive testing can be performed as early as the 10th week of pregnancy.

Trisomy 21 (Down Syndrome) is characterized by three copies of chromosome #21 instead of the expected two copies.

http://www.ndss.org/

If a Maternal Fetal DNA test result comes back as “High Risk” for a chromosomal abnormality, the recommendation (1) is to confirm the diagnosis by amniocentesis.

Ultrasound performed in pregnancy after 15 weeks gestation can help identify some babies with Trisomy 21.

Trisomy 21 Ultrasound “Markers”:

  • Nuchal Fold greater than or equal to 5 mm up to 18 weeks
  • Nuchal Fold greater than or equal to 6 mm from 18 to 22 weeks
  • Echogenic Bowel
  • Frontal Lobe greater than or equal to 2 weeks smaller than dates
  • Tricerebellar Diameter greater than or equal to 2 weeks smaller than dates
  • Longitudinal ear measurement more than one
  • Bilateral Hydronephrosis (fluid in the kidneys) greater than or equal to 4 mm
  • Missing small bone or triangular middle phalanx in the fifth digit (pinky)
  • Splaying of hips greater than 90 degrees
  • Big toes is spread from the rest of the toes
  • Humerus greater than or equal to 2 weeks smaller than dates
  • Femur greater than or equal to 2 weeks smaller than dates

(1) The American College of Obstetricians & Gynecologists, Committee Opinion Number 545 December 2012,

The American College of Obstetricians and Gynecologists Committee on Genetics, The Society For Maternal-Fetal Medicine Publications Committee, “NonInvasive Prenatal Testing for Fetal Aneuploidy”.

ABC’s of Disease

ABCs of Disease© 2018, GENASSIST, Inc.

By Keith S. Wexler, MBA, CFO, CIO, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST™, Inc. 
 
I am a Facilitator of InformationHelping Patients Access Breakthrough Technologies – Timely Information Optimizes Outcome!

I have learned over the past 30 years working for a medical genetics company that when a patient(s) gets a test result (i.e. his/her baby has been diagnosed with Down Syndrome, his/her father was recently diagnosed with Lou Gehrig’s (ALS) disease or the patient is told she/he has breast cancer or prostate cancer respectively), the patient(s) just wants information and they want it now!
 
On an average day, we get receive over 100 “cold calls” from patients all over the country and lately from all over the world, that are being told that they will have to wait weeks or months before they will be able to meet with a “specialist” (i.e. Disease Specialist, Geneticist, Genetic Counselor, Medical Doctor etc..) who will talk with them or help them gather enough information to pave an educated road map for their care and/or treatment.

A few years ago at a national meeting, one of the speakers when asked why it is taking on average 7 to 9 months to get in and been seen by a “genetic counselor”, the reply was “There is no such thing as a genetic emergency”.  In 2018 this “wait list” has grown to 9 to 12 months and in some parts of the country to over 40 months.
 
As more tests become available and more patients seek testing, there is an obvious logjam that is taking place due to the ever increasing volume of patients desiring information and “interpretation” of test results and the finite number of healthcare providers who are able to meet with patients to discuss test results.

This “Take a Number and Get in Line Model” is what led to the creation of this website.

On October 1, 2015 the World Health Organization and the Center for Disease Control released International Classification of Diseases (ICD-10) which is designed to “enable greater specificity in identifying health conditions”1 which some estimates put at over 12,000 disease categories.

1 http://www.cdc.gov/nchs/icd/icd10cm_pcs_background.htm

This website is intended to create a global community of patients and their families, healthcare providers, biotech companies, insurance companies etc…to encourage the sharing of information.

I encourage any and all to join our global village!

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