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​​DISCLAIMER: The following information has been gathered from various sources, including Medical Professionals and experts in the field. This is in no way a medical text, but can be used as a helpful set of information that will hopefully give you an understanding and basic knowledge of the subject. 

Helping Parents Navigate the Journey
An Introduction to the Digestive System

The gastrointestinal (GI) tract is the system of organs responsible for digesting food, absorbing nutrients, and removing waste. It is also known as the digestive tract or alimentary canal. The GI tract is a long, continuous tube that starts at the mouth and ends at the anus.

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​​​​​​​​​​​​​Main Parts of the Digestive System:

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  • Mouth: Digestion begins here with chewing and swallowing food.

  • Oesophagus: A muscular tube that moves food from the mouth to the stomach.

  • Stomach: Produces acid and enzymes to break down food.

  • Small Intestine: Absorbs nutrients from digested food​

  • Large Intestine: Also known as colon, absorbs water and forms stool (poo)

  • Rectum: Acts as a reservoir. Stool (poo) moves from the rectum and exits the body through the anus when the surrounding muscles relax.

  • Anus: A muscular opening at the end of the digestive tract that controls the release of stool (poo). It plays a key role in continence, which is the ability to hold and control bowel movements.

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Anorectal Malformation

Anorectal Malformation (ARM) is a condition that affects the rectum and the anus, it develops during the very early stages of pregnancy, while the baby is forming in the womb.

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In babies with ARM, the anus may not have formed properly, may be in the wrong position, or may be absent altogether. As a result, stool/poo may be unable to leave the body or may pass through the vagina or urethra instead.

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Around in 1 in 4500 babies are born with ARM, although some recent research suggests that it it is closer to 1 in 2850(1). In real terms, each region expects there to be between 5-10 babies born with ARM each year. ARM is a fairly rare condition, but it is important to remember that you and your family are not alone.

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It’s important for parents to know that they are not responsible for their baby’s ARM.

“We do not know exactly what causes this, but it is not due to anything that happened during pregnancy. Research has indicated some possible causes of anorectal anomaly but these need further investigation” (2)

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Early Stages of Human Life

As the baby is growing, all organ systems are developing and maturing at different rates.

The gastrointestinal tract, urinary tract and uterus, in girls, develop from the same clump of cells. Crucial steps occur between the sixth and tenth weeks of pregnancy to ensure the proper formation of the rectum and anus and reproductive organs.

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If this process is incomplete or disrupted, it can lead to congenital conditions such as Anorectal Malformation (ARM), where the rectum and anus may not develop or separate properly from the urinary and/or reproductive systems.

 

Diagnosing Anorectal Malformation

Most types of ARM cannot be diagnosed prenatally.

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However, in some babies an ultrasound from the second trimester onwards can detect abnormalities within the urinary tract and lower pelvis, which may lead to a diagnosis of cloacal malformation. This is a rare and potentially even more complex type of ARM where the rectum, the vagina and urethra join together into a common passageway and end in a single channel.

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(further information see Types Girls & Boys)

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Newborn Baby Examination

Soon after a baby is born a doctor will carry out a head to toe newborn baby check.

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This includes examination of the baby’s perineum and genitals to check for birth defects.

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The perineum is the area of the body that lies  between the genitals (vaginal opening or scrotum) and anus.

 

Health care professionals use the passing of meconium (baby’s first stool) as part of the standard newborn checking procedure. If a problem is found the team will also routinely check other parts of the body. Some problems are known to be seen more frequently when an anorectal malformation has been found and it can be useful to diagnose them early.

 

When examining a new-born baby doctors may find signs of Anorectal Malformation:

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  • No visible anus

  • Anal opening that is not in the normal location

  • Anus that is tighter or more narrow than normal

  • Anus which is blocked by a layer of tissue

 

In rare cases, the anus may be normal while the rectum is blocked or narrowed.

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In addition, there may be an abnormal connection known as a fistula between the rectum and the perineum, the urinary tract or the genitals.

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There may be delay in confirming a diagnosis of ARM if the baby is passing meconium via a fistula to the bladder or vagina.

 

Other signs and symptoms of Anorectal Malformation may be seen:

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  • Baby is unsettled / distressed

  • Reluctant to take a full feed

  • A swollen tummy

  • Vomiting

 

Any of these should be reported to the healthcare team immediately.

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Babies with signs of anorectal malformation need urgent medical treatment.

 

Investigations & Operations

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These may could include:

 

  • Abdominal (tummy) X-rays. Renal / Pelvic Ultrasound. If it is likely to be helpful, an MRI Scan is done. Often, enough information can be obtained without this initially. Further investigations may be needed to diagnose other associated anomalies.

  • This means the spine, the heart, the kidneys and bladder, and sometimes the arms and legs.

 

Many children with anorectal malformations will need surgery.

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Some infants may need one operation whilst others, with more complex anomalies, are best treated with three operations. In these more complex anomalies, staged surgery is necessary(2) (further information see Investigations & Operations)

 

Parents as Partners - Family Integrated Care(3)

Parents may find it difficult to maintain the role of parent in a critical care environment.

This can be a very frightening time and they may feel dis-empowered and detached from what is happening around them. Health professionals are able to support parents to care for their baby, they will provide both verbal and written information about Anorectal Malformation.

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At this time parents should be supported to participate in the care of their baby, be an active part of the care team discussions and decision making process. This helps them cope with a frightening and often rapidly changing situation and helps maintain their bond with their baby.

2025 Reviewed by:

Jonathon Sutcliffe. Consultant Paediatric Surgeon. Leeds Teaching Hospital NHS Trust.

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References:

(1) Kathryn Ford et al. Archives of Disease in Childhood, 2022

(2)Anorectal anomaly | Great Ormond Street Hospital

(3) Being a parent on the neonatal unit | Bliss

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