Congenital Defects

Imagine sitting in the ultrasound room awaiting good news about the health of your unborn baby when you see a look of shock on the technician's face. She leaves the room without explanation and a doctor comes back in with her. You then see a look of concern on the doctor's face. Your child has a serious congenital defect--now you can only hope that it is a treatable condition.

Cleft Lip and/or Palate

Cleft abnormalities affect approximately one out of every 700 to 1,000 children born in the United States. It is more common in people with an Asian, Native American or Latino heritage.

Cleft lip and palate are treatable with surgeries done in stages starting when the baby is around a year old. Depending on the severity of the cleft abnormality, the baby may need medical intervention before the surgery. Because of feeding problems associated with this condition, a baby with cleft abnormalities may need to be fed using feeding aids, such as special nipples or other equipment.

Micropenis

Historically, a child with a micropenis had surgery to make the child have external female genitalia. More recently, male infants with a micropenis are left intact and tested for other conditions, such as 1p36 deletion syndrome, a chromosomal defect. A child with micropenis is sometimes thought to be a female during an ultrasound. In some cases, such as during a specialized ultrasound, the diagnosis of micropenis may be made. At that time, parents are often encouraged to have genetic testing. If no genetic abnormalities are found, there aren't any significant health consequences associated with a micropenis except abnormalities in the urinary tract that may or may not need surgical intervention.

Club Foot

Club foot occur when the feet grow abnormally while in the womb. This condition, which causes the feet to turn inward or downward, can affect one foot or both feet. Once the condition is noted during a routine ultrasound, a Level II ultrasound, or specialized ultrasound is performed to try to rule out congenital defects that are associated with this defect. Edwards syndrome, a congenital defect affecting chromosome 18, and spina bifida are two conditions associated with club feet.

Club foot is a fully treatable condition that can be treated surgically or using a procedure initiated shortly after birth called a Ponseti procedure. The Ponseti procedure involves special casts and massage/stretching techniques.

Conclusion

Many children suffer from congenital defects and go on to lead a long and productive life. Regardless of what your ultrasound shows, it is important to find a team of doctors skilled in treating the conditions as soon as possible following the diagnosis so you can develop a tentative treatment plan and discuss any possible treatments that can occur in utero or shortly after birth.

Sources:

http://www.nlm.nih.gov/medlineplus/ency/article/001051.htm

http://www.orpha.net/data/patho/GB/uk-1p36.pdf

http://www.chw.org/display/PPF/DocID/34372/Nav/1/router.asp