fb tracking
No Result
View All Result
BellyBelly
  • Home
  • Getting Pregnant
    • Conception
    • Two Week Diaries
  • Pregnancy
    • Pregnancy Articles
    • Pregnancy Week By Week
    • Pregnancy Symptoms
    • Pregnancy Calculator
    • Pregnancy Journals
      • Irene’s Pregnancy Journal
      • Pregnancy Diaries
      • Jovie Birth article
      • Maja Birth article
      • Diary of Ambah article
      • Diary of Belinda article
      • Diary of Rachael article
      • Diary of Sherie
      • Diary of Janelle
      • Diary of Sharon
      • Diary of Lucy
      • Diary of Kathryn
      • Diary of Julie
      • Diary of Kelly
    • Prenatal / Perinatal
    • Sleep
  • Birth
    • Birth Articles
    • Doulas
    • Midwives
  • Mothers
    • Mother Articles
    • Post Natal/Post Partum
  • Baby
    • Baby Articles
    • Baby Week By Week
    • Baby Sleep Articles
    • Star Signs For Baby
  • Breastfeeding
    • Breastfeeding Articles
    • Breastfeeding Week by Week
  • Toddler
  • Child
  • Men/Dads
  • Parenting
  • Health Lifestyle
    • Health
      • General Health
      • Cooking & Recipes
      • Meal Planning
      • Exercise
    • Lifestyle
      • Family Travel
      • Relationships
      • Men/Dads
  • Competitions
    • Competitions
    • Product Reviews
  • Advertise
  • Home
  • Getting Pregnant
    • Conception
    • Two Week Diaries
  • Pregnancy
    • Pregnancy Articles
    • Pregnancy Week By Week
    • Pregnancy Symptoms
    • Pregnancy Calculator
    • Pregnancy Journals
      • Irene’s Pregnancy Journal
      • Pregnancy Diaries
      • Jovie Birth article
      • Maja Birth article
      • Diary of Ambah article
      • Diary of Belinda article
      • Diary of Rachael article
      • Diary of Sherie
      • Diary of Janelle
      • Diary of Sharon
      • Diary of Lucy
      • Diary of Kathryn
      • Diary of Julie
      • Diary of Kelly
    • Prenatal / Perinatal
    • Sleep
  • Birth
    • Birth Articles
    • Doulas
    • Midwives
  • Mothers
    • Mother Articles
    • Post Natal/Post Partum
  • Baby
    • Baby Articles
    • Baby Week By Week
    • Baby Sleep Articles
    • Star Signs For Baby
  • Breastfeeding
    • Breastfeeding Articles
    • Breastfeeding Week by Week
  • Toddler
  • Child
  • Men/Dads
  • Parenting
  • Health Lifestyle
    • Health
      • General Health
      • Cooking & Recipes
      • Meal Planning
      • Exercise
    • Lifestyle
      • Family Travel
      • Relationships
      • Men/Dads
  • Competitions
    • Competitions
    • Product Reviews
  • Advertise
No Result
View All Result
BellyBelly
No Result
View All Result
Home Pregnancy

What Is Edwards’ Syndrome or Trisomy 18? All You Need To Know

Dawn Reid, EEPM CNCM MMID
by Dawn Reid, EEPM CNCM MMID
Last updated June 21, 2022
Reading Time: 4 min
What Is Edwards' Syndrome or Trisomy 18 All You Need To Know

Trisomy 18, also called Edwards’ syndrome, is not usually expected, or even thought of, in most pregnancies. Unfortunately for some, though, it might be detected in prenatal screening.

If you are in this small group of those diagnosed with this genetic condition, it will be vital to have accurate information and lots of support. Seek out genetic counselors and social workers, if you haven’t done so already, as they will help you understand Trisomy 18 and provide the support you need.

What is Edward’s syndrome or Trisomy 18?

Trisomy 18, also called Edward’s syndrome, is caused by an extra copy of chromosome 18. The trisomy 18 mutation spontaneously occurs at conception, when the father’s sperm cell fertilizes the mother’s egg cell. Usually, each egg and sperm cell contains 23 chromosomes – a total of 46 chromosomes. Babies diagnosed with Edwards’ syndrome (Trisomy 18) have three copies of chromosome 18 instead of two.

You might want to know the risk of birth defects for your unborn baby.

Screening for Trisomy 18, usually completed in the first-trimester, might include a blood sample, or ultrasound used to detect Trisomy 18 early in the pregnancy.

In the second trimester, you might have a blood test and/or CVS (chorionic villus sampling) and amniocentesis, where a sample of amniotic fluids taken.

The screens and diagnostic tests can also check for other genetic conditions, such as Patau syndrome (known as Trisomy 13) and Down syndrome.

Unfortunately, there is no treatment for Edwards’ syndrome and it is usually fatal before birth. Babies who are born with Trisomy 18 have a limited life expectancy.

Recommended readings:

Nuchal Translucency Scan | 11 Common Questions

Expecting a Baby With Down Syndrome – A Mother’s Story.

What is the difference between Trisomy 18 and Trisomy 13?

The word trisomy indicates that any person has 3 of a particular chromosome rather than 2.

As with Trisomy 18, Trisomy 13 means that the person has 3 copies of chromosome 13 instead of 2.

What is mosaic Trisomy 18?

About 1 in 20 babies might have the extra chromosome 18 in some, but not all, of their cells. This is called mosaic Trisomy 18 (mosaic Edwards’ syndrome). This genetic condition might have lesser effects for many babies; the effects are determined by the type and number of cells that have the extra chromosome.

What is partial Trisomy 18?

About 1 in 100 babies born with partial Edwards’ syndrome (Trisomy 18) have only a portion of the extra chromosome in their cells, rather than the entire extra chromosome. The partial triplicate often results from a balanced translocation of genes carried by one of the parents.

Edwards’ syndrome signs and symptoms

The diagnosis of Edwards’ syndrome must be completed by a medical professional, antenatally, through screening tests. As mentioned earlier, this is done via NIPT (non-invasive prenatal testing), ultrasound, a small blood sample, and chorionic villus sampling or amniocentesis (a sample of amniotic fluid).

For babies born with Trisomy 18, the signs and symptoms are:

  • Low birth weight
  • Overlapping fingers
  • Congenital disabilities, including heart defects
  • A weak cry
  • Abnormally shaped head
  • Failure to thrive
  • Severe intellectual disability
  • Severe developmental delays
  • Small jaw
  • Drooping or folded upper eyelid or wider space between eyes.

There might also be episodes of no breathing. The baby’s ears are set lower, the fists are clenched, with a single line on the palm, and the underfoot is convex.

You might be interested to read more in What is Trisomy 18? – Trisomy 18 Foundation

What are the risk factors for Trisomy 18?

Trisomy 18 is not preventable. If it happens, it is not your fault; there’s nothing that you have done to cause this genetic condition. Knowing whether you might be at an increased risk will help with early detection.

A risk factor is advanced maternal age; some association has also been seen with advanced paternal age.

How was Edward’s syndrome discovered?

In 1960, John Hilton Edwards researched newborns with a range of congenital health problems involving developmental delays. He noted Trisomy 18 in the body’s cells; it affected nearly every organ system.

Edwards’ syndrome (Trisomy 18) is now detected by ultrasound by measuring the thickness of the nuchal fold and the absence of the nasal bone.

Is Edward’s syndrome a mutation?

Edwards’ syndrome is a mutation, as there are three copies of chromosome 18 rather than two. The cell division causes the mutation to occur spontaneously at fertilization.

Can a baby with Edward’s syndrome survive?

Babies born with Edwards’ syndrome will not usually survive past one year of age. If diagnosed with mosaic or partial Trisomy 18, life expectancy is increased. However, all forms of the condition come with some delayed fetal development that will affect many children born with this extra chromosome.

Support networks in Australia can be found at Programs — SOFT Australia

Is there a way to prevent Trisomy 18?

Unfortunately, there is no way to prevent trisomy 18. If you have the results of genetic testing information and they are positive for Trisomy 18, you should consult a genetic counselor and be linked with social support networks.

Will Edward’s syndrome affect how I birth?

Every baby’s birth is different. Your health care provider will work with you and your family to prepare you for the birth. Together, you can make a plan for after the birth and discuss any medical interventions that might be necessary, depending on the baby’s medical condition.

Previous Post

Royal Homebirth | What Does Homebirth Involve?

Next Post

What Is The Amnion? | All You Need To Know

Dawn Reid, EEPM CNCM MMID

Dawn Reid, EEPM CNCM MMID

Dawn Reid is a mother of four and is married to a wonderful man for more than 27 years. She's been a midwife and nurse for over 30 years, with experience in many areas - most recently in her own private practice. Dawn is passionate about advocacy, rights and informed consent for women and their families. She loves travel, reading, fishing and the beach. Dawn is pursuing her PhD in Midwifery in 2021 and is very excited to be a writer at BellyBelly.

Next Post
What Is The Amnion All You Need To Know

What Is The Amnion? | All You Need To Know

Recommended

breastfeeding positioning and attachment

Breastfeeding | 5 Baby Positioning And Attachment Types

Last updated December 6, 2023
pregnancy pelvis

Pregnancy Pelvis | Amazing Changes To Your Body

Last updated December 6, 2023
seater cars

7 Seater Cars | Best 7 Seater Family Car In UK For 2023

Last updated December 5, 2023

Trending

Ovulation Pain

Ovulation Pain – 7 Causes Of Pain During Ovulation

Last updated June 27, 2023
early miscarriage

Early Miscarriage – Signs, Symptoms and What To Expect

Last updated July 4, 2023
Car Seat Crying – Tips To Reduce Crying In The Car

Car Seat Crying – 8 Tips To Reduce Crying In The Car

Last updated August 9, 2022

Cooking and Recipes

Chicken recipe

Chicken Recipes | Delicious Apricot Chicken Recipe

Last updated October 11, 2023
Bread Recipe

Homemade Bread Recipe | Simple and Yummy

Last updated July 24, 2023
Stews Casserole & Soup Slow Cooker Recipes

Stews Casserole & Soup Slow Cooker Recipes | 30 Hearty Meals

Last updated June 26, 2023
Australian Enterprise Awards
As seen on homemuse.com.au
Lux Life Award

Belly Belly Logo

We’re passionate about women and men feeling informed, confident and prepared for pregnancy, birth and early parenting.

  • Home
  • Getting Pregnant
    • Conception
    • Two Week Diaries
  • Pregnancy
    • Pregnancy Articles
    • Pregnancy Week By Week
    • Pregnancy Symptoms
    • Pregnancy Calculator
    • Pregnancy Journals
      • Irene’s Pregnancy Journal
      • Pregnancy Diaries
      • Jovie Birth article
      • Maja Birth article
      • Diary of Ambah article
      • Diary of Belinda article
      • Diary of Rachael article
      • Diary of Sherie
      • Diary of Janelle
      • Diary of Sharon
      • Diary of Lucy
      • Diary of Kathryn
      • Diary of Julie
      • Diary of Kelly
    • Prenatal / Perinatal
    • Sleep
  • Birth
    • Birth Articles
    • Doulas
    • Midwives
  • Mothers
    • Mother Articles
    • Post Natal/Post Partum
  • Baby
    • Baby Articles
    • Baby Week By Week
    • Baby Sleep Articles
    • Star Signs For Baby
  • Breastfeeding
    • Breastfeeding Articles
    • Breastfeeding Week by Week
  • Toddler
  • Child
  • Men/Dads
  • Parenting
  • Health Lifestyle
    • Health
      • General Health
      • Cooking & Recipes
      • Meal Planning
      • Exercise
    • Lifestyle
      • Family Travel
      • Relationships
      • Men/Dads
  • Competitions
    • Competitions
    • Product Reviews
  • Advertise
  • Pregnancy Symptoms
  • Pregnancy Week by Week
  • Baby Week by Week

OUR NETWORK

  • Belly Belly Logo
    bellybelly.com.au
  • Around the World Plus Kids
    www.aroundtheworldpluskids.com.au
  • Doula Training
    www.doula-training.com.au
  • About
  • Contact
  • Disclaimer
  • Privacy Policy
  • Advertise

© Copyright 2002–2023 BellyBelly, All Rights Reserved.

No Result
View All Result
  • Home
  • Getting Pregnant
    • Conception
    • Two Week Diaries
  • Pregnancy
    • Pregnancy Articles
    • Pregnancy Week By Week
    • Pregnancy Symptoms
    • Pregnancy Calculator
    • Pregnancy Journals
      • Irene’s Pregnancy Journal
      • Pregnancy Diaries
      • Jovie Birth article
      • Maja Birth article
      • Diary of Ambah article
      • Diary of Belinda article
      • Diary of Rachael article
      • Diary of Sherie
      • Diary of Janelle
      • Diary of Sharon
      • Diary of Lucy
      • Diary of Kathryn
      • Diary of Julie
      • Diary of Kelly
    • Prenatal / Perinatal
    • Sleep
  • Birth
    • Birth Articles
    • Doulas
    • Midwives
  • Mothers
    • Mother Articles
    • Post Natal/Post Partum
  • Baby
    • Baby Articles
    • Baby Week By Week
    • Baby Sleep Articles
    • Star Signs For Baby
  • Breastfeeding
    • Breastfeeding Articles
    • Breastfeeding Week by Week
  • Toddler
  • Child
  • Men/Dads
  • Parenting
  • Health Lifestyle
    • Health
      • General Health
      • Cooking & Recipes
      • Meal Planning
      • Exercise
    • Lifestyle
      • Family Travel
      • Relationships
      • Men/Dads
  • Competitions
    • Competitions
    • Product Reviews
  • Advertise

© Copyright 2002–2023 BellyBelly, All Rights Reserved.

Know What's Normal What To Expect  

Every Week Of Your Pregnancy

 

Close
Close