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Showing posts with label Birth Defects. Show all posts
Showing posts with label Birth Defects. Show all posts

Understanding Gastroschisis, Causes and Chances of Survival.



Gastroschisis (pronounced gas-troh-skee-sis) is a birth defect of the abdominal wall. The baby’s intestines are found outside of the baby’s body, exiting through a hole beside the belly button.

What is Gastroschisis?

Gastroschisis is a birth defect of the abdominal (belly) wall. The baby’s intestines are found outside of the baby’s body, exiting through a hole beside the belly button. The hole can be small or large and sometimes other organs, such as the stomach and liver, can also be found outside of the baby’s body.

Gastroschisis occurs early during pregnancy when the muscles that make up the baby’s abdominal wall do not form correctly. A hole occurs which allows the intestines and other organs to extend outside of the body, usually to the right side of belly button. Because the intestines are not covered in a protective sac and are exposed to the amniotic fluid, the intestines can become irritated, causing them to shorten, twist, or swell.

Soon after the baby is born, surgery will be needed to place the abdominal organs inside the baby’s body and repair the hole in the abdominal wall. Even after the repair, infants with gastroschisis can have problems with nursing and eating, digestion of food, and absorption of nutrients.

Other Problems


The Centers for Disease Control and Prevention (CDC) estimates that about 1,871 babies are born each year in the United States with gastroschisis, but several studies show that recently this birth defect has become more common, particularly among younger mothers.1-3

Causes and Risk Factors

The causes of gastroschisis among most infants are unknown. Some babies have gastroschisis because of a change in their genes or chromosomes. Gastroschisis might also be caused by a combination of genes and other factors, such as the things the mother comes in contact with in the environment or what the mother eats or drinks, or certain medicines she uses during pregnancy.

Like many families affected by birth defects, CDC wants to find out what causes them. Understanding factors that are more common among babies with birth defects will help us learn more about the causes. CDC funds the Centers for Birth Defects Research and Prevention, which collaborate on large studies such as the National Birth Defects Prevention Study (NBDPS; births 1997-2011) and the Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS, which began with births in 2014), to understand the causes of and risks for birth defects, like gastroschisis.

Recently, CDC researchers have reported important findings about some factors that affect the risk of having a baby with gastroschisis:

  • Younger age: teenage mothers were more likely to have a baby with gastroschisis than older mothers.2,3
  • Alcohol and tobacco: women who consumed alcohol or were a smoker were more likely to have a baby with gastroschisis.4,5

CDC continues to study birth defects like gastroschisis in order to learn how to prevent them. If you are pregnant or thinking about getting pregnant, talk with your doctor about ways to increase your chance of having a healthy baby.


Gastroschisis can be diagnosed during pregnancy or after the baby is born.

During Pregnancy

During pregnancy, there are screening tests (prenatal tests) to check for birth defects and other conditions. Gastroschisis might result in an abnormal result on a blood or serum screening test or it might be seen during an ultrasound (which creates pictures of the baby’s body while inside the womb).

After the Baby is Born

Gastroschisis is immediately seen at birth.


Soon after the baby is born, surgery will be needed to place the abdominal organs inside the baby’s body and repair the defect.

If the gastroschisis defect is small (only some of the intestine is outside of the belly), it is usually treated with surgery soon after birth to put the organs back into the belly and close the opening. If the gastroschisis defect is large (many organs outside of the belly), the repair might done slowly, in stages. The exposed organs might be covered with a special material and slowly moved back into the belly. After all of the organs have been put back in the belly, the opening is closed.

Babies with gastroschisis often need other treatments as well, including receiving nutrients through an IV line, antibiotics to prevent infection, and careful attention to control their body temperature.

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What Is Cauda Equina Syndrome (CES) and How Is It Treated?

 What exactly is CES?

At the lower end of your spine is a bundle of nerve roots called the cauda equina. That’s Latin for “horse’s tail.” The cauda equina communicates with your brain, sending nerve signals back and forth regarding the sensory and motor functions of your lower limbs and the organs in your pelvic region.

If these nerve roots become squeezed, you can develop a condition called cauda equina syndrome (CES). It’s a rare conditionTrusted Source, estimated to affect 1 in 33,000 to 100,000 peopleTrusted Source. CES influences the control you have over your bladder, legs, and other body parts. If left untreated, it can lead to serious long-term complications.

Keep reading to learn what symptoms the condition causes, how it’s managed, and more.

CES symptoms can take a long time to develop and may vary in severity. This can make diagnosis difficult.

In most cases, the bladder and the legs are the first areas to be affected by CES.

For example, you may have difficulty holding or releasing urine (incontinence).

CES can cause pain or a loss of feeling in the upper parts of your legs, as well as your buttocks, feet, and heels. The changes are most obvious in the “saddle area,” or the parts of your legs and buttocks that would touch a saddle if you were riding a horse. These symptoms can be severe and, if left untreated, worsen over time.

Other symptoms that may signal CES include:

  • intense lower back pain
  • weakness, pain, or a loss of sensation in one or both legs
  • bowel incontinence
  • loss of reflexes in your lower limbs
  • sexual dysfunction

If you experience any of these symptoms, you should see a doctor.

herniated disk is one of the most common causes of CES. A disk is a cushion between the bones in your vertebrae. It’s made up of a jelly-like interior and a tough exterior.

A herniated disk occurs when the soft interior pushes out through the hard exterior of the disk. As you get older, disk material weakens. If the wear and tear is severe enough, straining to lift something heavy or even just twisting the wrong way can cause a disk to rupture.

When this happens, nerves near the disk can become irritated. If the disk rupture in your lower lumbar is large enough, it may push against the cauda equina.

Other possible causes of CES include:

  • lesions or tumors on your lower spine
  • spinal infection
  • inflammation of your lower spine
  • spinal stenosis, a narrowing of the canal that houses your spinal cord
  • birth defects
  • complications after spinal surgery

People most likely to develop CES include those who have a herniated disk, such as older adults or athletes in high-impact sports.

Other risk factors for a herniated disk include:

  • being overweight or obese
  • having a job that requires a lot of heavy lifting, twisting, pushing, and bending sideways
  • having a genetic predisposition for a herniated disk

If you have had a severe back injury, such as one caused by a car accident or a fall, you’re also at higher risk for CES.

When you see your doctor, you’ll need to provide your personal medical history. If your parents or other close relatives have had back problems, share that information, too. Your doctor will also want a detailed list of all your symptoms, including when they started and their severity.

During your appointment, your doctor will do a physical examination. They’ll test the stability, strength, alignment, and reflexes of your legs and feet.

You will probably be asked to:

  • sit
  • stand
  • walk on your heels and toes
  • lift your legs while lying down
  • bend forward, backward, and to the side

Depending on your symptoms, your doctor may also check your anal muscles for tone and numbness.

You may be advised to have an MRI scan of your lower back. An MRI uses magnetic fields to help produce images of your spinal cord nerve roots and tissue surrounding your spine.

Your doctor might also recommend a myelogram imaging test. For this test, a special dye is injected into the tissue surrounding your spine. A special X-ray is taken to show any issues with your spinal cord or nerves caused by a herniated disk, tumor, or other issues.

A CES diagnosis is usually followed by surgery to relieve pressure on the nerves. If the cause is a herniated disk, an operation can be done on the disk to remove any material pressing on the cauda equina.

The surgery should be done within 24 or 48 hours of the onset of serious symptoms, such as:

  • serious lower back pain
  • sudden loss of feeling, weakness, or pain in one or both legs
  • recent onset of rectal or urinary incontinence
  • loss of reflexes in your lower extremities

This can help prevent irreversible nerve damage and disability. If the condition is left untreated, you could become paralyzed and develop permanent incontinence.

After surgery, your doctor will see you periodically to check on your recovery.

Full recovery from any CES complications is possible, although certain people do have some lingering symptoms. If you continue to have symptoms, be sure to tell your doctor.

If CES impacted your ability to walk, your treatment plan will include physical therapy. A physical therapist can help you regain your strength and give you exercises to help improve your stride. An occupational therapist may also be helpful if everyday activities, such as getting dressed, are affected by CES.

Specialists to help with incontinence and sexual dysfunction may also be part of your recovery team.

For long-term treatment, your doctor might recommend certain drugs to help with pain management:

  • Prescription pain relievers, such as oxycodone (OxyContin), may be helpful immediately after surgery.
  • Over-the-counter pain relievers, such as ibuprofen (Advil) or acetaminophen (Tylenol), can be used for daily pain relief.
  • Corticosteroids may be prescribed to help reduce inflammation and swelling around the spine.

Your doctor may also prescribe medication for better bladder or bowel control. Common options include:

  • oxybutynin (Ditropan)
  • tolterodine (Detrol)
  • hyoscyamine (Levsin)

You might benefit from bladder training. Your doctor can recommend strategies to help you empty your bladder on purpose and lower your risk for incontinence. Glycerin suppositories may help you empty your bowels when you want too.

Learn more: Adult incontinence »

After surgery, your senses and motor control may be slow in returning. Bladder function in particular may be the last to fully recover. You may need a catheter until you regain full control over your bladder. Some people, however, need many months or even a couple of years to recover. Your doctor is your best resource for information about your individual outlook.

If bowel and bladder function don’t fully recover, you may need to use a catheter a few times a day to make sure you void your bladder completely. You’ll also need to drink a lot of fluids to help prevent a urinary tract infection. Protective pads or adult diapers may be helpful in dealing with bladder or bowel incontinence.

It will be important to accept what you can’t change. But you should be proactive about symptoms or complications that may be treatable after your surgery. Be sure to discuss your options with your doctor in the years ahead.

Emotional or psychological counseling may help you adjust, so talk to your doctor about the options available to you. The support of your family and friends is also very important. Including them in your recovery may help them understand what you’re dealing with every day and enable them to better help you through your recovery.

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How the Drinking Habits of Fathers May Contribute to Birth Defects in Newborns

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A recent study suggests the lifestyle habits of fathers may contribute to the chances of birth defects in newborns. Cavan Images/Getty Images
  • According to an observational study in 529,090 couples, there was a 35 percent increase in the chance of birth defects in newborns if the father regularly drank alcohol in the 6 months leading to conception.
  • The types of birth defects tracked in the study included congenital heart disease, limb anomalies, clefts, digestive tract anomalies, gastroschisis, and neural tube defects.
  • Experts note several limitations to the study, including the fact that it did not track the amount of alcohol consumed before conception.

New evidence suggests a link between paternal alcohol consumption before conception and the chances of fetal birth defects.

The studyTrusted Source, published in JAMA Pediatrics on April 19, found that paternal drinking is associated with an increased risk of sperm abnormalities, which could lead to defects like congenital heart disease, limb anomalies, clefts, and digestive tract anomalies.

The association between alcohol consumption and birth defects has been most closely studied in mothers, but researchers have recently started taking a closer look at how paternal drinking affects babies.

The study adds to a growing pile of evidence that paternal alcohol consumption can potentially negatively affect the health of the baby.

It’s unclear why paternal drinking may lead to birth defects, but early evidence suggests alcohol changes the shape, size, and motility of sperm and could also alter the DNA that’s passed down to children.

Overall, the chances of birth defects remain low, regardless of alcohol consumption.

“This study raises questions that maybe both partners should be equally responsible in terms of when they are planning to create the new life,” said Dr. Lubna Pal, a Yale Medicine reproductive endocrinologist and professor of obstetrics, gynecology, and reproductive services at Yale School of Medicine.

The researchers recruited 529,090 couples who were planning to become pregnant within 6 months.

Of the participating couples, 364,939 fathers did not drink alcohol before conception (defined as at least one time drinking a week) and 164,151 did.

The research team then tracked the rate of birth defects reported by parents 42 days after the baby was born.

Overall, 609 total birth defects were reported, including congenital heart disease, limb anomalies, clefts, digestive tract anomalies, gastroschisis, and neural tube defects.

Among the fathers who consumed alcohol, there were 363 birth defects. Among the fathers who did not consume alcohol, there were 246 birth defects.

The research team found that babies had a 35 percent greater chance of having a birth defect if their father regularly drank once a week or more in the 6 months leading up to conception.

In addition, babies had a 55 percent greater chance of developing clefts if their father drank regularly before conception.

According to the researchers, the epidemiological evidence suggests paternal drinking before conception can damage the sperm cells and increase the chances of birth defects.

The researchers also suggest the findings should inform guidance on paternal drinking to help reduce the chances of defects.

The study does not confirm a direct link, but it does raise questions that there may be preventable strategies that both partners can take to improve the health of the baby, according to Pal.

Research on paternal drinking has historically focused on the effects of maternal alcohol consumption.

Mothers have historically been advised against drinking before conception, but guidance for paternal drinking before conception has been scarce.

“Fertility is a team sport. There are two players involved, but the burden has disproportionately fallen on women for [the] longest time,” Pal said.

2020 review of 55 studies also found a strong correlation between paternal drinking and babies being born with a birth defect like congenital heart disease (CHD).

According to that study, drinking alcohol within 3 months of conception was linked to a 44 percent higher chance of CHD. Furthermore, the risk appeared to be greatest in fathers who drank heavily.

It’s unclear why paternal drinking may be linked to a higher rate of birth defects.

Past evidence suggests alcohol affects the size, motility, and shape of sperm cells. Other researchTrusted Source suggests exposure to alcohol can alter the father’s DNA and be inherited by the offspring.

Early evidenceTrusted Source suggests the effects are not permanent, and it might only take 3 months for the sperm to become healthy again once the alcohol consumption stops.

This new observational study raises questions that there might be a link between the father’s lifestyle choices before conception and the health of the baby.

But much more research is needed to explore the potential mechanisms at play along with other contributing factors.

Dr. Boback Berookhim, the director of male fertility and microsurgery at Lenox Hill Hospital, would like to see more data on how much alcohol the fathers consumed before conception.

“It would be very important to know how much is too much — a question which is not answered here,” Berookhim said.

Given the overall low rate of birth defects, even in fathers who consumed alcohol, more data is needed to determine whether alcohol abstinence before conception is beneficial, according to Berookhim.

“I tell potential fathers to moderate the alcohol intake but do not suggest complete abstinence,” Berookhim said.

New evidence has found a link between paternal alcohol consumption before conception and the chances of fetal birth defects.

Fathers who drink alcohol regularly before conception are associated with greater chances of birth defects like congenital heart disease, limb anomalies, clefts, and digestive tract anomalies.

It’s unclear why alcohol may cause birth defects, but early evidence suggests alcohol changes the shape, size, and motility of sperm and could also alter the DNA.

More research is needed to understand the link between paternal drinking and birth defects.

JPeei Clinic

What Is Caudal Regression Syndrome?

What is caudal regression syndrome?

Caudal regression syndrome is a rare congenital disorder. It’s estimated that 1 to 2.5 in every 100,000 newborns is born with this condition.

It occurs when the lower spine doesn’t fully form before birth. The lower spine is a part of the “caudal” half. This area contains the parts of the spine and bones that form the hips, legs, tailbone, and several important organs in the lower body.

This condition is sometimes called sacral agenesis because the sacrum, a triangle-shaped bone that connects the backbone to the pelvis, only partially develops or doesn’t develop at all.

Keep reading to learn more about why this may happen, what treatment options are available, and what to expect in the short and long terms.

The exact cause of caudal regression syndrome isn’t always clear. Some researchTrusted Source suggests that having diabetes during pregnancy, especially if it isn’t managed, can increase the chance of your child’s caudal region not fully developing.

Since this condition also occurs in infants born to those without diabetes, there may be other genetic and environmental factors involved.

The first signs of caudal regression syndrome usually appear between weeks 4 and 7 of pregnancy. In most cases, the condition can be diagnosed by the end of the first trimester.

If you have diabetes — or if you’ve developed gestational diabetes during pregnancy — your doctor may perform an ultrasound specifically to look for signs of this condition. Otherwise, routine ultrasound tests will look for any fetal abnormalities.

If your doctor suspects caudal regression syndrome, they may perform an MRI after 22 weeks of pregnancy. This will allow them to see even more detailed images of the lower body. An MRI may also be used after birth to confirm the diagnosis.

After a diagnosis is made, your doctor will use ultrasound or MRI testing to determine how severe the condition is.

Your child’s symptoms will depend on the type of caudal regression syndrome that’s diagnosed.

Mild cases may not cause any noticeable changes in your child’s appearance. But in severe cases, your child may have visible differences in the leg and hip area. For example, their legs may be permanently bent in a “frog-like” stance.

Other visible characteristics may include:

  • spine curving (scoliosis)
  • flat buttocks that are noticeably dimpled
  • feet bent upward at a sharp angle (calcaneovalgus)
  • clubfoot
  • imperforate anus
  • opening of the penis on the underside instead of the tip (hypospadias)
  • testicles not descending
  • not having any genitals (genital agenesis)

Your child may also experience the following internal complications:

  • abnormally developed or missing kidneys (renal agenesis)
  • kidneys that have grown together (horseshoe kidney)
  • nerve damage to the bladder (neurogenic bladder)
  • bladder that sits outside of the abdomen (bladder exstrophy)
  • misshapen large intestine or large intestine that sits abnormally in the gut
  • intestine that pushes through weak areas of the groin (inguinal hernia)
  • vagina and rectum that are connected

These characteristics can lead to symptoms such as:

Treatment depends on how severe your child’s symptoms are.

In some cases, your child may need special shoes, leg braces, or crutches to help them walk and move around. Physical therapy may also help your child build strength in their lower body and gain control of their movements.

If your child’s legs didn’t develop, they may be able to walk using artificial, or prosthetic, legs.

If your child has trouble controlling their bladder, they may need a catheter to drain urine. If your child has an imperforate anus, they may need surgery to open a hole in their intestine and pass stools outside of their body into a bag.

Surgery can also be done to treat certain symptoms, such as bladder exstrophy and inguinal hernia. Surgery performed to treat these symptoms usually resolves them completely.

Your child’s outlook will depend on the severity of their symptoms. Their doctor is your best resource for information about your child’s individual diagnosis and any anticipated complications.

In mild cases, your child may go on to live an active and healthy life. Over time, they may be able to use special shoes, braces, or prosthetics to support their body weight and help them move around.

In severe cases, complications in the heart, digestive system, or renal system may affect your child’s life expectancy. Your doctor can provide you with more information about what to expect after childbirth and discuss your options moving forward.

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 What is megalencephaly?

Megalencephaly is a condition in which your brain is abnormally large. An average adult brain weighs between 1,300 and 1,400 grams, or between 2.87 pounds and 3.09 pounds. According to The Gale Encyclopedia of Neurological Disorders, the brain of an adult with megalencephaly weighs more than 1,600 grams, or 3.53 pounds.

Megalencephaly may be present at birth. It can also develop over time. In some cases, your brain may reach twice the normal weight.

Megalencephaly can occur alone. It may not occur with any symptoms. It can also occur with a wide range of neurological problems or birth defects. It’s sometimes confused with macrocephaly. This is a condition in which your head is large but not necessarily abnormal.

Three broad types of megalencephaly exist:

  • primary megalencephaly, or benign familial megalencephaly
  • secondary megalencephaly, which occurs as the result of another disorder
  • unilateral megalencephaly, or hemimegalencephaly, which occurs when half of your brain is enlarged

If you have megalencephaly, your symptoms can range from mild to severe. They depend on the underlying cause of your condition. If you have benign familial megalencephaly, you may have no symptoms. You may have normal to advanced intelligence. In other cases, your facial features may have an abnormal size or shape. If another disorder causes megalencephaly, you may have cognitive impairment, seizures, or other symptoms.

Common neurological symptoms include:

  • delayed development of your gross motor skills, including your ability to hold your head upright, change position, roll over, sit, and stand
  • delayed speech development
  • corticospinal dysfunction, in which your brain doesn’t send impulses to your spinal cord properly
  • intellectual disability
  • defects in your muscle tone
  • body asymmetry
  • paralysis
  • an inability to coordinate and control your movements
  • seizures
  • visual irregularities

Defects in the way that your brain controls cell production cause megalencephaly. In normal brain cell growth, your body produces the correct number of brains cells. It produces them in the right place at the right time. Megalencephaly occurs when your brain produces too many new brain cells or cells that are too large. It can also occur when metabolic byproducts and matter build up in your brain.

Genetic factors and genetic disorders can cause megalencephaly. For example, the condition can result from:

  • Alexander disease
  • neurofibromatosis
  • tuberous sclerosis
  • overgrowth disorders, such as Sotos syndrome and Beckwith-Wiedemann syndrome
  • chromosomal disorders, such as Klinefelter’s syndrome

Non-genetic causes can also lead to megalencephaly. For example, disorders affecting your cerebral spinal fluid can cause it.

Sometimes, the doctor can’t identify the cause.

Megalencephaly is three to four time more common in males than females, reports The Gale Encyclopedia of Neurological Disorders. It affects between 10 and 30 percent of patients with macrocephaly. Asymptomatic cases may not be reported, so the incidence is unknown.

Your doctor will perform a complete physical exam to diagnose megalencephaly. They’ll measure the circumference of your head. They may also measure the heads of your immediate relatives. They may also take your personal and family medical history.

In some cases, your doctor might perform developmental and neurological exams. For example, they may order MRI or CT scans. This can help them examine the appearance and size of your brain. They may also order laboratory tests. This can help them check for genetic and chromosomal disorders.

No cure for megalencephaly is available. However, your doctor may prescribe treatments for your symptoms, underlying disorders, or associated disabilities.

For example, your doctor may prescribe medications. Anti-epileptic drugs can help control seizures. Physical, speech, and occupational therapy may help you manage physical or neurological disabilities

If you have megalencephaly, your long-term outlook depends on the severity of your condition.

In some cases, your symptoms may be very mild. They may require little to no treatment. They may have little impact on your life.

In other cases, your symptoms may be severe. For example, seizures, paralysis, and cognitive impairments can be limiting. If you have these symptoms, you may need physical, speech, or occupational therapies. Children with these symptoms may also require special education classes.

If you have hemimegalencephaly, the long-term outlook is poor. This condition is rare. It can lead to cognitive impairment, severe seizures, and paralysis on one side of your body.

Ask your doctor for more information about your specific diagnosis and long-term outlook.

Megalencephaly isn’t preventable. If you have a family history of the condition, talk to your doctor about genetic counseling. This can help you assess your risk of developing the condition. It can also help you assess the risk for your children or future children.

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