Cap
Nabl
Ukas
Anab
Customer care
Search
Exact matches only
Search in title
Search in content
Search in comments
Search in excerpt
Filter by Custom Post Type

Trisomy 18

Trisomy 18 or Edwards’ syndrome is a genetic disorder in which a child has three copies of chromosome 18 instead of two. Babies born with trisomy 18 have heart, brain, spinal cord and other birth defects. Mortality is very high in trisomy 18; most babies die before birth or by the age of 1 year.

Almost 1 in 5000 babies in the world are born with trisomy 18 and most of them are females. Incidence of Trisomy 18 increases with maternal age. Children with trisomy 18 have slow growth before birth (intrauterine growth retardation) and have a low birth weight.

Symptoms

Children with trisomy 18 are very weak and small. They may exhibit some signs such as

  • Distinct facial features such as small head, small jaw short neck and deformed ears
  • Deformities-Clubfoot or cleft palate
  • Clenched fists with overlapping fingers
  • Developmental delay
  • Feeding problems
  • Chest deformation
  • Heart septal defects
  • Lung, kidneys and intestinal defects

Diagnosis

Maternal marker screening: It includes a series of tests done in the second trimester to evaluate a woman’s risk of carrying a baby with chromosomal anomalies. It includes- double marker test, triple marker tests and quadruple marker test. These tests are done usually between 15-20 weeks of pregnancy. The Double marker test assesses the levels of the human chorionic gonadotropin and Pregnancy Associated Plasma Protein. The levels of these components help to detect Edwards’ syndrome.

If screening test results are positive, then the following diagnostic tests are done to confirm that the fetus has trisomy 18.

  1. Chorionic villus sampling: It is done during first trimester between 10 to 13 weeks of pregnancy. In this test, a small sample of tissue from chorionic villi(a part of the placenta) is taken. The genetic material in the cells of these chorionic villi is the same as that of the developing fetus. Genetic testing of this sample is done to find out if the fetus has Edwards’ syndrome. This procedure has a low risk of miscarriage.
  2. Amniocentesis: It is done during second trimester after 15 weeks of pregnancy. Amniotic fluid contains cells of the baby which are shed during development. In this procedure, a sample of the amniotic fluid is taken and is tested for abnormality in the chromosomes in the cells of the fetus. This procedure also has low risk of miscarriage.
  3. Percutaneous Umbilical Cord Blood Sampling: It is done during second trimester after 17 weeks of pregnancy. Fetal blood is retrieved from the umbilical cord and a chromosomal analysis is done.

Diagnostic tests after pregnancy: Edwards’ syndrome can be detected at birth based on the facial and bodily features of the baby. However, a chromosomal analysis of the baby blood is required to confirm Edwards’ syndrome.

Treatment

There is no cure for trisomy 18. Supportive medical care may be useful to improve the quality of life of the child.

Why Apollo Diagnostics?

We have the expertise of 34 + years in healthcare. Our labs are equipped with EQUAS (External Quality Assurance System) and loaded with full-automated machines to ensure error free reports, with a quick turnaround time, and at an affordable price. For your convenience, we offer free home collection of samples.

For appointments, please call 4444 2424.

References

  1. What Is Trisomy 18?. https://www.webmd.com/baby/what-is-trisomy-18#2. Accessed on 27-Oct-2017.
  2. Anna Cereda and John C Carey. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012; 7: 81.
  3. Trisomy 18 and 13. http://www.stanfordchildrens.org/en/topic/default?id=trisomy-18-and-13-90-P02419. Accessed on 27-Oct-2017.
  4. Edwards syndrome. https://en.wikipedia.org/wiki/Edwards_syndrome. Accessed on 27-Oct-2017. Accessed on 27-Oct-2017.
  5. Trisomy 18 Syndrome. http://www.dovemed.com/diseases-conditions/trisomy-18-syndrome/. Accessed on 27-Oct-2017.
  6. http://www.metropolisindia.com/wpcontent/uploads/2016/08/Maternal_Screening_Tests.pdf. Accessed on 27-Oct-2017.
  7. Trisomy18(EdwardsSyndrome). http://www.aboutkidshealth.ca/En/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/trisomy-18-edwards-syndrome.aspx. Accessed on 27-Oct-2017.
  8. Percutaneous Umbilical Cord Blood Sampling. https://embryology.med.unsw.edu.au/embryology/index.php/2010_Group_Project_4. Accessed on 27-Oct-2017.
  9. Edwards Syndrome (Trisomy 18). https://www.nhs.uk/conditions/edwards-syndrome/Pages/Introduction.aspx. Accessed on 27-Oct-2017.


Patient Testimonials

“Excellence of Apollo Diagnostics is already a recognized fact across India. Adding more strength to their reputation is their caring nature and supportive attitude. I’ll always prefer to take their services than selecting mediocre quality making any compromise with my health.”

Mr. Shahul Hameed, Chennai

“The way Apollo Diagnostics kept me at ease during the sample collection process, the way they supported me to be at my convenience and confidence is really something I’ll always remember. They were also flawless in maintaining the hygiene. Hats off to them!”

Mr. Laxmi Kantham, Hyderabad

“Awesome is probably the one word to express my views about Apollo Diagnostics. Efficiency, punctuality, compassion, sincerity…I’ll give high marks to them in all of these. Great going, Apollo!”

Shivaraj Kadam, Pune

“Thanks for the seamless service. Based on my experience I can assure that, be it quality or punctuality, Apollo Diagnostics is one name to trust and depend on.”

Mr. Thomas, Mysuru

“Excellent sense of timing! The technician arrived right on time. He was really well-trained, in terms of his skill and manner, as well. Apollo Diagnostics is doing a great job.”

Subbalakshmi, Vizag

“Appreciate the quality of service that I’ve received from Apollo Diagnostics. Their competence, caring nature, sincerity, valuing customer’s time – all these together have shaped them as the most trusted diagnostic service provider in the country.
Keep up the good work!

Mrs. Pravati Dash, Bengaluru

“My mother needed a blood test, but was unable to walk due to pain in her leg. A Phlebotomist from Apollo Diagnostics came home and collected the sample. I was informed, via SMS, that the report could be collected from any of the 3 centres in Dibrugarh, downloaded online or even delivered home for a nominal fee. Although the rates were reasonable, my mother also received a senior citizens discount too! This saved my time, money & energy. My aachhe din really seemed to have arrived! Thank you Apollo Diagnostics and hats off for displaying true professionalism.”

Mr. Alokk Kar Dowerah, Dibrugarh

“Whenever I need to have a blood sample collected from home, I ask for Vasu. He is punctual, courteous and so skilled I hardly feel any pain when he draws the sample. Plus, I truly appreciate how quickly the reports are delivered. Thanks Apollo!”

Mr. Sukumar, Film director, Sriram Nagar, Hyderabad

“Their accurate understanding of customer’s needs is one thing that set them apart and ahead of all others. As a result, it becomes easier for them to deliver the right service, that with their matchless efficiency and care to ensure less pain and easily accomplished sample collection. Apollo Diagnostics is simply doing an amazing job!”

Soundarya Abhirami, Hyderabad

“The overall service standard of Apollo Diagnostics is admirably high. The technician was punctual and well-behaved, and has the genuine skill to collect the test sample without troubling the customer. These are probably some of the major reasons for them to be the best in India.”

Mrs. Lakshmi, Chennai

“The most crucial factor with Apollo Diagnostics is that they always train their Phlebotomists so well that the team consistently remains efficient and punctual and we receive a premium quality diagnostic service. Good job. Keep it up.”

Mr. Amit Kumar Patil, Bengaluru

Service they deliver is no less than the promise they make. Be it quality, respect for customer’s time, or efficiency of their technicians…simply matchless. I confidently recommend Apollo Diagnostics to everyone.”

Nanjappa, Mysuru