These are congenital anomalies of the gastrointestinal tract that can occur anywhere from the esophagus to the anus. These anomalies are rare and vary in severity. Some anomalies can be treated surgically without leaving any lasting effects.

Esophageal atresia

Esophageal atresia (EA) is a congenital malformation characterized by an interruption in the continuity of the esophagus. The esophagus is interrupted after a few centimeters, leaving a blind-ended space between the two segments. The lower end of the second segment is connected to the stomach. Atresia is often associated with an abnormal connection between one, the other, or both segments of the esophagus and the trachea, known as a tracheoesophageal fistula. Several anatomical and clinical forms of EO are distinguished based on the number of fistulas and their location.

Source: French Registries of Congenital Anomalies, INSEE for births in 2011–2015

• For more information: Orphanet (esophageal atresia)

Anorectal atresia and stenosis

Anorectal malformations encompass a wide spectrum of conditions that can affect the anus and rectum as well as the urinary and genital tracts. Defects range from simple imperforate anus without fistula to complex malformations, including those with recto-urinary or recto-genital fistulas. Associated anomalies may be genitourinary.

Source: French Registries of Congenital Anomalies, INSEE for births in 2011–2015

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Diaphragmatic hernia

Congenital diaphragmatic hernia is defined by the failure of all or part of the diaphragmatic dome to develop during the embryonic period. This opening in the diaphragm, usually located on the left side, allows all or part of the abdominal organs—except the kidneys—to protrude into the chest. These organs compress the lung on the affected side, displacing the mediastinum and the heart, which also compromises the development of the contralateral lung. This results in underdevelopment (hypoplasia) of both lungs. In nearly 40% of cases, there are other associated malformations and/or chromosomal abnormalities. Prenatal ultrasound diagnosis allows for the detection of severe forms and the identification of associated malformations, enabling the recommendation of appropriate management. The prognosis remains poor for the most severe forms, with a high neonatal mortality rate (30 to 60% depending on the study) and significant morbidity (possible respiratory, digestive, and nutritional sequelae).

Source: French Registries of Congenital Anomalies, INSEE for births in 2011–2015

• For more information: Orphanet (congenital diaphragmatic hernia)

Laparoschisis

Laparoschisis is a defect in the embryonic development of the abdominal wall. It results in an opening in the abdominal wall through which digestive loops protrude, floating freely in the amniotic fluid without a covering membrane. Associated malformations are rare. The diagnosis is usually made during a prenatal ultrasound, allowing for surgical management to be planned immediately after birth in a specialized unit. The prognosis, which depends on the functional quality of the intestinal loops, is excellent in over 90% of cases.

Source: French Registries of Congenital Anomalies, INSEE for births in 2011–2015

• For more information: Orphanet (laparoschisis)

Omphalocele

Omphalocele is a congenital anomaly characterized by a large hernia of the abdominal wall, centered on the umbilical cord, where the protruding viscera are protected by a sac. It results from the failure of the embryo’s abdominal wall to close before 9 weeks of gestation. In nearly half of cases, associated malformations (craniofacial, cardiac) are present, forming part of a polymalformative syndrome whose most common etiology is chromosomal.The diagnosis is most often made during prenatal ultrasound, which allows for precise and early detection of associated malformations and enables immediate referral to a specialized facility. Management is surgical. The prognosis for isolated omphaloceles (with the exception of giant omphaloceles) is favorable if surgical management is performed promptly.

Source: French Registries of Congenital Anomalies, INSEE for births in 2011–2015

• For more information: Orphanet (omphalocele)