Ultra-sound scans during pregnancy has become standard of care and is almost universally available. This has allowed the diagnosis of most congenital anomalies before the child is born. The diagnosis of an abnormality in a child that is not yet real, rather yet to be, poses a unique challenge to the expectant parents. It often leaves the couple confused, afraid and helpless. The same is also an opportunity to better understand the diagnosis and to prepare for it once the child is born. Counselling of the parents to be is aimed at providing sufficient information and support to the parents to be so enable them to take an informed decision and to protect parental autonomy. The parental decision making in the context of antenatally diagnosed congenital malformations is not solely dependent on reliable information but also on behavior elicited by emotions which is influenced by family background, socio-economic status, cultural and intellectual standards of the couple. This picture is further confounded by the pervasiveness of the internet. It has been shown that majority of the parents will search the net to gather information about a diagnosis before seeking counselling. The validity and the import of such information may vary greatly based on the quality of the websites.
Why Pediatric surgeon?
Most congenital malformations are managed by pediatric surgeons, who not only perform the surgical corrections but also are actively involved in the recovery and rehabilitation of the babies. Further, more often than not these children usually are under regular follow-up with the surgeon at least until late adolescence. This provides the pediatric surgeon with a unique insight into the condition as well as the lifestyle of the family in the long term. Thus, relevant and tailored counselling can be given based on the individual family and the anomaly detected. Antenatal meetings with the pediatric surgeons also help the parents to decide about the treatment options available to them and familiarizes them with the team that would eventually care for their future child. This saves valuable time that is often lost if the same process is initiated after childbirth. The parents have adequate time to understand the anomalies, clear all their queries and decide about the extent of treatment that they are comfortable with. This makes the process of childbirth and subsequent transfer to neonatal surgical care relatively comfortable and avoids excessive stress.
When should you meet the pediatric surgeon?
Many congenital anomalies are detected as early as the first trimester of the pregnancy. This may lead to three main issues. First medical termination of pregnancy is legal at this stage of pregnancy and parents may opt for the same even with conditions having excellent prognosis. Secondly, even though the prognostic evaluation of various malformations have improved, the quality of the evaluation depends on various invasive tests that have potential adverse effects. Thirdly, the prognosis of certain anomalies depends on the ultrasound images, which changes during the pregnancy. Therefore, the pediatric surgical perspective is very essential to enable the parents to take rational decisions about their future child.
Certain anomalies may be detected late in the pregnancy. It is imperative that these parents seek pediatric surgical opinion emergently so that the pregnancy and the unborn fetus can be monitored closely. The prognosis and the urgency intervention after birth may depend on the antenatal sonographic findings. Antenatal consultation with pediatric surgeons has been shown to be associated with improved outcomes in the children with antenatally diagnosed malformations.
What are the common antenatally diagnosed anomalies?
Almost 5-6% of all antenatally monitored pregnancies have abnormalities detected on ultrasound. Out of these only about 20% are referred to pediatric surgeons. Out of these only about a quarter ultimately require a surgical intervention after birth.
An increase in the size of the fetal kidneys is probably the most common antenatally diagnosed condition that is encountered by pediatric surgeons. This may be an indicator of a variety of anomalies in the fetal urinary system (e.g. PUJO, VUR, PUV). All pregnancies with antenatally diagnosed hydronephrosis need monitoring of the pregnancy followed by close pediatric surgical follow-up after birth. Though, surgical intervention might not be required in all the patients, early diagnosis and management of the those that do need surgery ensures that the child does not have any long-term problems.
Anomalies of the brain and the CNS
Common anomalies that are seen are agenesis of the corpus callosum, arachnoid cyst, cerebral calcifications, intracranial hemorrhage, neural tube defects. Most of these anomalies resolve as the pregnancy progresses and the ultimately are not seen in the newborn. Incase of neural tube defects however it is prudent that the baby be shifted to a center with specialist pediatric surgical facilities before birth “In-Utero Transfer”. This ensures that the surgery can be performed in a planned and safe setting without un due delay.
Congenital diaphragmatic hernia [CDH]
It is the most common congenital anomaly of the thorax and is associated with variable degree of lung hypoplasia. These babies almost invariably need advanced neonatal care immediately after birth and early surgical repair in the first week of life for optimal outcomes. Further there is a need of close antenatal follow-up so that the prognosis of the child can be predicted.
Other than CDH the other commonly detected anomalies in the chest are Tracheo-esophageal atresia, CPAM, Hydrothorax and pulmonary agenesis. Most babies with antenatally diagnosed TEFs require emergent surgery after birth followed by advanced neonatal care in the first weeks of life. Majority of the CPAMs regress and are asymptomatic by the time of birth. These babies need to be evaluated in early infancy and planned surgery may be done if indicated. If the baby is having breathing problems after birth then immediate surgery might also be needed.
Defects in the wall of the abdomen of the fetus like exomphalos ( omphalocele) and gastroschisis results in the birth of the baby with part of the intestines and other abdominal organs developing outside the body. This will lead to the need to close the defect early after the birth so that the morbidity of the child is minimized.
Atresia of the fetal intestines like duodenal atresia, ileal atresia , anorectal malformations may be detected in the antenatal scans. These babies are born with intestinal obstruction and surgical correction is essential so that the babies can be fed and are able to sustain life. These babies also need post-operative neonatal support for a variable amount of time before they can be shifted to home care. Proper planning and counselling of the parents to be helps in providing these babies with a normal quality of life.