Aim of birthdefects.in

The aim of this website is to develop guidelines for appropriate fetal counseling for surgical congenital lesions thus benefitting human health and development.

Some of the common problems that can be diagnosed during antenatal and neonatal period.

Congenital diaphragmatic hernia (CDH)- This condition occurs when the diaphragmatic components do not fuse properly allowing the abdominal organs like the stomach, spleen, liver and intestines to enter the chest cavity. The defect can occur on the right side or the left side, but more commonly on the left. Babies with CDH have small, underdeveloped lungs due to the presence of the abdominal organs in the chest.

Congenital lung malformations- are a family of structural abnormalities of the lung which arise from errors in the embryologic development of the lung. The categories of malformations include Congenital Cystic Adenomatoid malformation (CCAM), Pulmonary sequestration, Bronchogenic Cyst and Congenital Lobar Emphysema. The type, extent, and location of the malformation, dictate the amount of lung to be removed and the timing of the surgery.

Abdominal Wall defects- Omphalocele and Gastroschisis are the most common abdominal wall defects. An omphalocele is a Birth Defects in which the infant's intestine or other abdominal organs stick out of the umbilicus. In omphalocele, the intestines are covered by a thin sac. Gastroschisis usually involves a protrusion of the intestine without a sac on the right side of the umbilical cord. These anomalies are usually fixed shortly by a variety of techniques which involve progressive closure of the abdominal wall.

Esophageal Atresia and tracheoesophageal fistula - Congenital esophageal atreisa represents a failure of the esophagus to develop a continuous passage. Instead, most commonly it ends as a blind pouch and the distal end connects with the trachea. The presence is suspected in an infant with excessive salivation and is frequently accompanied by choking after birth. These are usually fixed shortly after birth by a thoracic approach whereby the fistula is divided and the two ends of the esophagus are connected to each other. These infants often learn to eat and swallow normally.

Intestinal Atresia- a condition in which a portion of the intestine has not developed properly i.e. duodenal atresia, jejunal atresia. The infant is often born with bilious vomiting and a blockage in the intestines. Operations are performed after birth to restore intestinal continuity. The surgical approach usually involves duodeno-duodenostomy for duodenal atresia and resection and anastomosis for intestinal atresias.

Renal anomalies, Hydronephrosis- Swelling in the kidneys are the most common congenital anomalies picked up on ultrasonography. Fortunately, most are treatable after birth especially if unilateral.

Posterior Urethral valve- These are valves found only in male babies that obstruct the urinary stream and lead to dilatation of the upper urinary tract. This anomaly should be diagnosed early so that the parents can be explained the prognosis in time.

Meningomyelocele- There is a defect in the vertebral column ( backbone) through with nerve elements may protrude out. This may affect the nerve supply of the bowel, bladder and limbs in severe cases. This anomaly can be prevented by intake of folic acid starting six months before conception and during the antenatal period

Hydrocephalus- This involves a swelling in the brain that affects brain development. This anomaly needs to be followed up. The prognosis is not good in severe cases. The treatment after birth encompasses medical management and in severe cases a shunt placement.

Sacrococcygeal Teratoma- A swelling in the lower part of the backbone. This may grow to a big size and can jeopardize the life of the fetus.The prognosis is good if it is small. It can be operated after birth

Limb anomalies – It is difficult for parents to accept a baby with an absent limb. The reason may be a syndromic association like Holt Oram syndrome or a vascular incident.

Cleft lip and Cleft palate- In isolation, these anomalies are treatable after birth.

Tumors –These may be at any location in the body. The prognosis varies depending on the location of the tumor.

References

  1. World Health Organization. Congenital anomalies. Geneva, Switzerland: World Health Organization [cited 2016 Feb 9].
  2. Centers for Disease Control and Prevention. Update on overall prevalence of major birth defects – Atlanta, Georgia, 1978-2005. MMWR Morb Mort Wkly Rep. 2008;57(01):1-5.
  3. World Health Assembly report on birth defects. 2010. apps.who.int/gb/ebwha/pdf_files/WHA63/A63_10-en.pd
  4. Gupta DK, Sharma S, Gupta M. Outcome of Antenatally Referred Congenital Surgical Anomalies – A Pediatric Surgeon’s Perspective Journal of Pediatric Surgical Specialties 2010;4:1 – 9