A few genital and urinary tract defects are inherited from parents who have the disorder or carry the gene for it. However, specific causes of most of these conditions are unknown. Both genetic and environmental factors may contribute to these defects. A family with an affected child should consult a genetic counselor, geneticist or a physician who is familiar with genetic disorders. These experts can discuss what is known about the cause of the specific defect and what the risks may be that the defect or disorder will occur again in subsequent offspring. Many birth defects involve the genitals and urinary tract. These defects can affect one or more of the following structures:
Baby Care Topics: Feeding your baby|What should my baby wear? | Bathing and Washing your Baby | Overcoming sleeping problems in your baby- Kidneys, a pair of organs that filter wastes from the blood and form urine
- Ureters, two tubes, each one leading from the kidney to the bladder
- Bladder, the sac that holds urine
- Urethra, the tube that drains urine out of the body from the bladder
- Male genitals, including the penis, prostate gland and testes
- Female genitals, including the vagina, uterus, fallopian tubes and ovaries
Abnormalities of the genitals and urinary tract are among the most common
birth defects. Some of these abnormalities are minor and may cause no symptoms (example: having two ureters leading from one kidney to the bladder). Such minor defects often go undiagnosed unless the child has an X-ray, ultrasound examination or surgery for a related or unrelated problem. Other abnormalities can cause problems such as urinary tract infections, blockages, pain, and kidney damage or failure.
Some of the most common urinary tract defects include: renal agenesis, hydronephrosis, polycystic kidney disease, multicystic kidneys, bladder exstrophy and epispadias, hypospadias and ambiguous genitals. Many urinary tract defects can be diagnosed before birth with an ultrasound examination. Ultrasound uses sound waves to examine the internal organs of the fetus. After birth, ultrasound and/or a number of other tests may be recommended to provide more information on how well the kidneys and other urinary tract structures are functioning.
Renal agenesis is the absence of one or both kidneys. About 1 in 6,000 babies is born with neither kidney (bilateral renal agenesis) (1). Babies with no kidneys cannot survive. More than one-third of these babies are stillborn, and the rest die in the first days of life. Polycystic kidney disease (PKD) is an inherited disorder that results in the growth of numerous cysts in the kidneys, reduced kidney function and, often, kidney failure. There are two main forms of the disorder: autosomal dominant and autosomal recessive PKD. Besides kidney failure, both forms can cause frequent urinary tract infections, pain, high blood pressure and other problems.
Hydronephrosis is swelling of one or both kidneys. It occurs when a blockage somewhere in the urinary tract causes urine to back up into the kidneys. This is one of the most common fetal problems seen during a prenatal ultrasound examination, affecting about 1 in 300 pregnancies. Hypospadias is a common birth defect of the penis that affects at least 1 in 300 baby boys (5). The urethra does not extend to the tip of the penis; instead, the opening of the urethra is located somewhere along the underside of the penis. Multicystic dysplastic kidney can cause death in the newborn period when both kidneys are affected. It is believed that multicystic dysplastic kidney results from an obstruction in the urinary tract during the early stages of development. Babies with only one affected kidney may have few consequences, such as urinary tract infections.
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