Genitalia Screening for defects-Infant

Summary of Recommendation and Evidence

Population	Recommendation	Grade (What's This?)
Screening of both Genders	This screening is recommended a best practice.	B

Genitals-Male

The fetal testicles begin their descent from the peritoneal cavity into the scrotal sack at approximately the 30th week of gestation. The left testicle precedes the right and usually enters the scrotum during the 32nd week. Both testicles are usually palpable in the upper to lower inguinal canals by the end of the 33rd to 34th weeks of gestation. Concurrently, the scrotal skin thickens and develops deeper and more numerous rugae.

Testicles found inside the rugated zone are considered descended. In extreme prematurity the scrotum is flat, smooth and appears sexually undifferentiated. At term to post-term, the scrotum may become pendulous and may actually touch the mattress when the infant lies supine. Note: In true cryptorchidism, the scrotum on the affected side appears uninhabited, hypoplastic and with underdeveloped rugae compared to the normal side, or, for a given gestation, when bilateral. In such a case, the normal side should be scored, or if bilateral, a score similar to that obtained for the other maturational criteria should be assigned.

SIGN	PHYSICAL MATURITY SCORE							SIGN SCORE
SIGN	-1	0	1	2	3	4	5	SIGN SCORE
Genitals (Male)	scrotum flat, smooth	scrotum empty, faint rugae	testes in upper canal, rare rugae	testes descending, few rugae	testes down, good rugae	testes pendulous, deep rugae

Genitals-Female

To examine the infant female, the hips should be only partially abducted, i.e., to approximately 45° from the horizontal with the infant lying supine. Exaggerated abduction may cause the clitoris and labia minora to appear more prominent, whereas adduction may cause the labia majora to cover over them.

In extreme prematurity, the labia are flat and the clitoris is very prominent and may resemble the male phallus. As maturation progresses, the clitoris becomes less prominent and labia minora become more prominent. Nearing term, both clitoris and labia minora recede and are eventually enveloped by the enlarging labia majora.

The labia majora contain fat and their size are affected by intrauterine nutrition. Over-nutrition may result in large labia majora earlier in gestation, whereas under-nutrition, as in intrauterine growth retardation or post-maturity, may result in small labia majora with relatively prominent clitoris and labia minora late into gestation. These findings should be reported as observed, since a lower score on this item in the chronically stressed or growth retarded fetus may be counter-balanced by a higher score on certain neuro-muscular items.

SIGN	PHYSICAL MATURITY SCORE							SIGN SCORE
SIGN	-1	0	1	2	3	4	5	SIGN SCORE
Genitals (Female)	clitoris prominent & labia flat	prominent clitoris & small labia minora	prominent clitoris & enlarging minora	majora & minora equally prominent	majora large, minora small	majora cover clitoris & minora

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.

Causes of Genital Defects

The exact cause of most of these conditions is unknown. 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.

Problems of Genital Defects

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.

Diagnosis of Genital Defects

Many urinary tract defects can be diagnosed before birth with an ultrasound. Ultrasound uses sound waves and a computer screen to show a picture of your baby inside 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.

Common genital defects and its Treatments

DEFECT NAME	TREATMENT
Ambiguous genitals	Treatment for these conditions may include hormone treatment or surgery on the genitals.
Bladder exstrophy and epispadias	Some babies need surgery to help treat problems with bladder control and how the genitals look and work.
Hydronephrosis	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. After birth, mild hydronephrosis may go away without treatment. If the blockage doesn’t go away, your baby may need surgery.
Hypospadias	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)	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)	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	To help a baby be born healthier, providers may use treatments during pregnancy, like serial amnio infusion, to try to help the baby's lung's develop before birth. After birth, the baby needs dialysis. About 1 in 3,000 babies (less than 1 percent) is born with this condition.