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Birth defects

  • Birth defects are health conditions present at birth.
  • They can cause problems in how the body works.
  • About 120,000 babies born each year have a birth defect.
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Genital and urinary tract defects

Genital and urinary tract defects are birth defects. Birth defects are health conditions that are present at birth that change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops, or in how the body works.

Genitals are sex organs. Some genitals, like the penis, are outside the body. Others, like the ovaries, are inside the body. The urinary tract is the system of organs (like the kidneys and bladder) that helps your body get rid of waste and extra fluids.

What problems can genital and urinary tract defects cause?

Genital and urinary tract defects affect one or more of a baby’s body parts, including:

  • Kidneys, the pair of organs that remove waste from the blood and make urine
  • Bladder, the sac that holds urine
  • Ureters, two tubes that carry urine from the kidneys to the bladder
  • Urethra, the tube that carries urine out of the body from the bladder
  • Male genitals, including the penis and testicles. Testicles (also called testes) are two egg-shaped organs usually found in the sac (called the scrotum) behind the penis. They make sperm and testosterone (a male hormone).In some boys, the testes are inside the belly instead of the scrotum; this condition is called undescended testes.
  • Female genitals, including the vagina, ovaries and uterus (womb)

Genital and urinary tract defects can cause:

  • Urinary tract infections (UTIs)
  • Pain
  • Kidney damage
  • Kidney failure. This is a serious condition that happens when the kidneys don’t work well and allow waste to build up in the body.

What causes genital and urinary tract defects?

We don’t know the exact cause of most of these conditions. But some happen when parents who have the condition, or carry the gene for the condition, pass it to their children. Genes are a part of your body’s cells that stores instructions for the way your body grows and works.

If you already have a child with a genital or urinary tract defect and are thinking about having another baby, you may want to speak with a genetic counselor. This is a person who is trained to help you understand about how genes, birth defects and other medical conditions run in families, and how they can affect your health and your baby's health.

How do you know if your baby has one of these conditions?

Many urinary tract defects can be diagnosed before birth with an ultrasound. Ultrasound uses sound waves and a computer screen to make a picture of a baby in the womb. After birth, genital defects often are diagnosed during your baby’s checkup in the hospital nursery.

Your baby gets tested for a condition called congenital adrenal hyperplasia (also called CAH) as part of newborn screening after birth. Newborn screening checks for serious but rare and mostly treatable conditions. It includes blood, hearing and heart screening.

What are some common genital and urinary tract defects and how are they treated?

Common genital and urinary tract defects include:

Ambiguous genitals. In this condition, a baby’s genitals outside the body, like the penis or vagina, aren’t obviously either male or female. About 1 in 4,500 babies (less than 1 percent) has ambiguous genitals.

Ambiguous genitals are a common sign of several disorders of sexual development (also called DSDs). These are conditions in which a baby’s genitals outside the body are different from what a baby’s chromosomes (XX for females, XY for males) or organs inside the body say they should be. Treatment for these conditions may include hormone treatment or surgery on the genitals.

Bladder exstrophy and epispadias. Bladder exstrophy is when the bladder is turned inside out and bulges outside of the belly. It can involve other parts of the body, including the urinary tract, muscles, bones and the digestive system. This condition affects about 1 in 30,000 babies (less than 1 percent). It happens in boys slightly more often than girls.

Epispadias is a defect in the urethra that often happens with bladder exstrophy. It can cause these problems:

  • For boys, a shorter-than-normal urethra with an opening on the upper part of the penis instead of the penis tip
  • For boys, a penis that looks short and flat and may curve upward
  • For girls, a clitoris that’s split and, sometimes, the urinary opening in the wrong place. The clitoris is a female external sex organ.
  • For boys and girls, bladder control problems

Some babies need surgery to help treat problems with bladder control and how the genitals look and work.

Hydronephrosis. In this condition, one or both kidneys swell because a blockage in the urinary tract causes urine to back up into the kidneys. It affects up to 1 in 100 (1 percent) pregnancies.

When hydronephrosis happens to your baby in the womb, it’s called fetal hydronephrosis. It usually goes away without lasting problems. But sometimes the blockage can damage the developing kidneys or become life-threatening for your baby. If hydronephrosis is diagnosed before birth with ultrasound, your provider checks your baby with repeat ultrasounds to see if it goes away or gets worse.

Most babies don’t need treatment until after birth. But if hydronephrosis becomes life-threatening before birth, you may need to give birth early or have surgery to put a shunt (small tube) into your baby’s bladder while still in the womb. The shunt drains urine into the amniotic fluid until birth. After birth, mild hydronephrosis may go away without treatment. If the blockage doesn’t go away, your baby may need surgery.

Hypospadias. This condition affects only boys. It’s when the opening of the urethra is on the underside of the penis instead of at the tip of the penis. Hyposadias affects at least 1 in 300 baby boys (less than 1 percent).

Boys with this condition may have a curved penis. This may cause them to have problems with spraying urine, so they may need to sit down to urinate. And in some boys, the testicles don’t fully drop down into the scrotum before birth. Without treatment, hyposadias can lead to problems with sex or urinating later in life.

Hypospadias usually is diagnosed in baby boys during a physical exam after birth. Most babies need surgery to correct the condition. If you plan to have your son circumcised, you may need to wait because your baby’s provider may use the penis foreskin in surgery to help fix hypospadias. Circumcision is a surgical procedure that removes foreskin from the penis. Foreskin is the fold of skin that covers the tip of the penis.

Kidney dysplasia (also called renal dysplasia or multicystic dysplastic kidney). In this condition, cysts grow inside of one or both kidneys. The cysts may appear to actually replace one or both kidneys. A blockage in a baby’s urinary tract early in pregnancy may cause kidney dysplasia. It affects about 1 in 2,000 babies (less than 1 percent).

Kidney dysplasia usually happens in only one kidney. In these cases, babies have few, if any, health problems. But if it affects both kidneys, babies may not survive pregnancy. Babies who do survive need dialysis and a kidney transplant very soon after birth.

Kidney dysplasia is often found during an ultrasound. After birth, it may be found during an exam for a urinary tract infection or other medical condition.

Polycystic kidney disease (also called PKD). This condition causes cysts (fluid-filled sacs) to grow in the kidneys. The cysts make the kidneys work poorly, leading to kidney failure. Cysts also may develop in other organs, like the liver. There are two major forms of PKD:

  1. Autosomal dominant PKD is the more common form. It usually happens when a baby inherits the PKD gene change from a parent. A gene change (also called a mutation) is a change to instructions that are stored in a gene. The change sometimes can cause birth defects and other health conditions. But 1 in 10 (10 percent) people with autosomal dominant PKD don’t have a family history of PKD. Symptoms usually appear in adulthood, but some children have symptoms. This type of PKD affects between 1 in 500 and 1 in 1,000 people (less than 1 percent).
  2. Autosomal recessive PKD is rare and happens when both parents (who aren’t affected by PKD themselves) pass the PKD gene change to their child. Cysts may develop before birth and can be life-threatening. Symptoms also can appear later in childhood. Up to 1 in 20,000 babies (less than 1 percent) is born with this form of PKD.

PKD treatments include:

  • Blood pressure medicines, diuretics (medicine that helps your body get rid of salt and water) and a low-salt meal plan
  • Antibiotics to treat urinary tract infections. Antibiotics are medicines that kill infections caused by bacteria.
  • Draining cysts that are painful, infected, bleeding or causing a blockage
  • Dialysis. This treatment filters your blood to rid your body of harmful wastes, extra salt and water.
  • Surgery to remove one or both kidneys. If both kidneys are removed, you need dialysis or a kidney transplant. This is surgery to place a healthy kidney into a person with kidney failure.

Renal agenesis. There are two kinds of renal agenesis:

  1. Unilateral renal agenesis is when a baby is born with just one kidney instead of two. Most babies with this condition grow and develop normally. But some have other urinary tract defects that may cause problems for the one kidney. Providers can use ultrasound and other tests to check for problems that need special care. Between 1 in 450 and 1 in 1,000 babies (less than 1 percent) is born with this condition.
  2. Bilateral renal agenesis is when a baby is born without kidneys. Babies with this condition may not survive and often die in the first days of life. They need dialysis to survive. About 1 in 3,000 babies (less than 1 percent) is born with this condition.

Last reviewed February 2013

See also: Birth defects, Genetic counseling

Call your provider now if your baby

  • Has a temperature above 100.4º F
  • Has trouble breathing or is hard to waken
  • Has blood in her vomit or stool
  • Has yellowish skin or eyes
  • Is having a seizure

Most common questions

Can dad's exposure to chemicals harm his future kids?

Dad's exposure to harmful chemicals and substances before conception or during his partner's pregnancy can affect his children. Harmful exposures can include drugs (prescription, over-the-counter and illegal drugs), alcohol, cigarettes, cigarette smoke, chemotherapy and radiation. They also include exposure to lead, mercury and pesticides.

Unlike mom's exposures, dad's exposures do not appear to cause birth defects. They can, however, damage a man's sperm quality, causing fertility problems and miscarriage. Some exposures may cause genetic changes in sperm that may increase the risk of childhood cancer. Cancer treatments, like chemotherapy and radiation, can seriously alter sperm, at least for a few months post treatment. Some men choose to bank their sperm to preserve its integrity before they receive treatment. If you have a question about a specific exposure, contact the Organization of Teratology Information Specialists at www.otispregnancy.org.

Can Rh factor affect my baby?

The Rh factor may be a problem if mom is Rh-negative but dad is Rh-positive. If dad is Rh-negative, there is no risk.

If your baby gets her Rh-positive factor from dad, your body may believe that your baby's red blood cells are foreign elements attacking you. Your body may make antibodies to fight them. This is called sensitization.

If you're Rh-negative, you can get shots of Rh immune globulin (RhIg) to stop your body from attacking your baby. It's best to get these shots at 28 weeks of pregnancy and again within 72 hours of giving birth if a blood test shows that your baby is Rh-positive. You won't need anymore shots after giving birth if your baby is Rh-negative. You should also get a shot after certain pregnancy exams like an amniocentesis, a chorionic villus sampling or an external cephalic version (when your provider tries to turn a breech-position baby head down before labor). You'll also want to get the shot if you have a miscarriage, an ectopic pregnancy or suffer abdominal trauma.

Does cleft lip or cleft palate cause dental problems?

A cleft lip or cleft palate that extends into the upper gums (where top teeth develop) can cause your baby to have certain dental problems, including:

  • Missing teeth
  • Too many teeth
  • Oddly shaped teeth
  • Teeth that are out of position around the cleft

Every baby with a cleft lip or palate should get regular dental checkups by a dentist with experience taking care of children with oral clefts. Dental problems caused by cleft lip or palate usually can be fixed. If needed, your baby can get ongoing care by a team of experts, including:

  • A dentist
  • An orthodontist to move teeth using braces
  • An oral surgeon to reposition parts of the upper jaw, if needed, and to fix the cleft

See also: Cleft lip and cleft palate

 

Does cleft lip or cleft palate cause ear problems?

Cleft lip does not cause ear problems.

Babies with cleft palate, however, are more likely than other babies to have ear infections and, in some cases, hearing loss. This is because cleft palate can cause fluid to build up in your baby’s middle ear. The fluid can become infected and cause fever and earache. If fluid keeps building up with or without infection, it can cause mild to moderate hearing loss.

Without treatment , hearing loss can affect your baby’s language development and may become permanent.

With the right care, this kind of hearing loss is usually temporary. Your baby’s provider may recommend:

  • Having your baby’s ears checked regularly for fluid buildup
  • Medicines for treating fluid buildup and ear infections
  • Ear tubes if your baby has fluid in his ears over and over again. Ear tubes are tiny tubes that are inserted into the eardrum to drain the fluid and help prevent infections.

See also: Cleft lip and cleft palate

Does cleft lip or cleft palate cause problems with breastfeeding?

Babies with only a cleft lip usually don’t have trouble breastfeeding. Most of the time, they can breastfeed just fine. But they may need some extra time to get started.

Babies with cleft lip and palate or with isolated cleft palate can have:

  • Trouble sucking strong enough to draw milk through a nipple
  • Problems with gagging or choking
  • Problems with milk coming through the nose while feeding

Most babies with cleft palate can’t feed from the breast. If your baby has cleft palate, he can still get the health benefits of breastfeeding if you feed him breast milk from a bottle. Your provider can show you how to express (pump) milk from your breasts and store breast milk.

Your baby’s provider can help you start good breastfeeding habits right after your baby is born. She may recommend:

  • Special nipples and bottles that can make feeding breast milk from a bottle easier
  • An obturator. This is a small plastic plate that fits into the roof of your baby’s mouth and covers the cleft opening during feeding.

See also: Cleft lip and cleft palate, Breastfeeding

Does cleft lip or cleft palate cause speech problems?

Children with cleft lip generally have normal speech. Children with cleft lip and palate or isolated cleft palate may:

  • Develop speech more slowly
  • Have a nasal sound when speaking
  • Have trouble making certain sounds

Most children can develop normal speech after having cleft palate repair. However, some children may need speech therapy to help develop normal speech.

See also: Cleft lip and cleft palate

What are choroid plexus cysts?

The choroid plexus is the area of the brain that produces the fluid that surrounds the brain and spinal cord. This is not an area of the brain that involves learning or thinking. Occasionally, one or more cysts can form in the choroid plexus. These cysts are made of blood vessels and tissue. They do not cause intellectual disabilities or learning problems. Using ultrasound, a health care provider can see these cysts in about 1 in 120 pregnancies at 15 to 20 weeks gestation. Most disappear during pregnancy or within several months after birth and are no risk to the baby. They aren't a problem by themselves. But if screening tests show other signs of risk, they may indicate a possible genetic defect. In this case, testing with higher-level ultrasound and/or amniocentesis may be recommended to confirm or rule out serious problems.

What if I didn't take folic acid before pregnancy?

If you didn’t take folic acid before getting pregnant, it doesn't necessarily mean that your baby will be born with birth defects. If women of childbearing age take 400 micrograms of folic acid every day before and during early pregnancy, it may help reduce their baby’s risk for birth defects of the brain and spin called neural tube defects (NTDs). But it only works if you take it before getting pregnant and during the first few weeks of pregnancy, often before you may even know you’re pregnant.

Because nearly half of all pregnancies in the United States are unplanned, it's important that all women of childbearing age (even if they're not trying to get pregnant) get at least 400 micrograms of folic acid every day. Take a multivitamin with folic acid before pregnancy. During pregnancy, switch to a prenatal vitamin, which should have 600 micrograms of folic acid.

Last reviewed November 2012

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