Lethal Anomaly Diagnosis

THERE ARE SEVERAL CONDITIONS WHICH, IF DIAGNOSED DURING PREGNANCY, CAN MEAN THAT A BABY MAY NOT LIVE FOR LONG AFTER BIRTH, OR THAT HE OR SHE MIGHT NOT MAKE IT TO BIRTH AT ALL.

These diagnoses are rare but they can arise in about 1% of pregnancies. What many parents are not told, however, is that while their children will have a short life, the time they have with them can be hugely joyful and rewarding.

In the section below we look at the most common conditions and the stories of parents who have had children with each of these conditions. Many of these stories are from the excellent website, Every Life Counts, which has more testimonies from parents. Click here to visit the Every Life Counts website.

COMMON DISORDERS – ANENCEPHALY

Anencephaly is a serious neural tube defect which causes the baby’s brain not to develop properly. A recent study found that 72% of babies with anencephaly lived for a short time after birth. Of those children, 25% lived up to 5 days, while up to 7% lived up to 28 days after birth. (1)

Two children – Stephanie Keene and Nicholas – lived in excess of two years.

In one recent case, Baby Faith Hope lived for a wonderful 93 days. Her mother, Myah wrote:

“I chose to carry my baby to term for one simple reason: love. Then to everyone’s surprise, we were blessed with 3 months and 4 days with Faith before she went to Heaven. She was the sweetest little girl… so beautiful and so full of life. I feel so blessed to be her mother”
(http://babyfaithhope.blogspot.com/)

(1) Jaquier M, Klein A, Boltshauser E. ‘Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly.’ BJOG 2006; 113:951–953

COMMON DISORDERS – TRISOMY 18 OR EDWARDS SYNDROME

Trisomy 18 or Edwards Syndrome arises because of the presence of an extra chromosome. Quite contrary to recent reporting, studies have found that the average duration of survival for children with Trisomy 18 was 14.5 days; with 38.6% of babies surviving for more than a month, while 8.4% survived for more than a year. (2)

Elaine Fagan, given just days to live after birth, spent 25 years with her loving family before her death in 2011, confounding all medical expectations.

“She has touched so many people. I now know happiness comes from caring and sharing with others. I wouldn’t have found that out if I didn’t have Elaine. It’s thanks to her that I am seeing a lovely side of human nature,” said her father Micheal.

(2) Mitchel L. Zoler, ‘Trisomy 18 survival can exceed 1 year’, OB/GYN News, March 1 2003

COMMON DISORDERS – TRISOMY 13 OR PATUA SYNDROME

COMMON DISORDERS – TRISOMY 13 OR PATUA SYNDROME

Trisomy 13 or Patau Syndrome also arises when the baby has an additional chromosome. Research has found that children with Trisomy 13 live on average for 7 days after birth, while almost 31% live for more than a month, and almost one in 10 live for more than a year. (3)

Anthony Arritola lived for twelve months after birth, and his mother Janina said his life had inspired many others to realise “how incredibly precious each and every little life is”.

(3) Mitchel L. Zoler, ‘Trisomy 13 survival can exceed 1 year’, OB/GYN News, March 1 2003

COMMON DISORDERS – POTTER’S SYNDROME, POTTER’S SEQUENCE AND RENAL AGENESIS

Potter’s Syndrome, Potter’s Sequence and Renal Agenesis reduced volume of amniotic fluid also arises. It has tended to be associated with a very poor outcome but this is not invariably so, and data shows the outlook may be improving.

Doctors predicted that infant Sarah Elizabeth Kaster, like other Potter’s Syndrome babies, would never open her eyes, never utter a sound, and never breathe on her own. Her life expectancy was two or three minutes. Instead, she lived 22 and a half glorious hours. During that time, little Sarah opened her beautiful eyes, cried like any baby, and responded to her parents’ loving touch. Her mother, Holly Kaster, said that:

“Sarah brought me so much joy in the short time she was with me, I look at her life as a total blessing. And I feel honoured to have been her mother.”