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The Importance of Screening and Early Diagnosis in Congenital Disorders

Submitted by on April 7, 2016 – 3:38 PM

ultraA 40 year old pregnant woman, gravida 2 and para 1 was diagnosed with pregnancy-induced hypertension and gestational diabetes mellitus during her antenatal visits to a private hospital. Routine fetal ultrasounds were performed during first and third trimesters which showed a healthy fetus with no congenital anomalies. However, unexpectedly on delivery the infant was found to have Down syndrome with severe congenital heart defects. On the 14th day of life, the baby expired owing to complications of the congenital anomaly.


Birth defects are a global problem, and one of the leading causes of prenatal morbidity and mortality. Globally 7.9 million children each year are born with serious genetic birth defects. The incidence of Down syndrome is one out of 1,000-1,100 live births worldwide (WHO, 2015). In Pakistan, the figures of reported cases of Down syndrome are from 3,000 to 5,000 per year (WHO, 2015). The question that raises concern is why so many significant birth defects are missed by the health care team during pregnancy. Among the reasons for this are incomplete maternal history, improper biochemical maternal screening and ultrasound performed by less experienced technical staff or employing a poor ultrasound machine.


For children with birth defects, “Care is absolute, prevention is ideal.” – Professor Christianson. To this end early diagnosis is essential for good counselling and timely preparation of parents/caretakers regarding quality of life of the affected newborn child. The decision to continue or terminate the pregnancy is the parents’, however it is the job of the healthcare professional to ensure it is an informed decision. Medical literature indicates that undetected birth defects affect physical and mental health of mother or caregiver (Pastva, M., Corwin, E. J., & Morin, K.,2004). Furthermore, parents should be made acquainted with the several Down syndrome rehabilitation centers in Pakistan that provide constant care to patients and their parents.


Let’s now review what Down syndrome or “trisomy 21” actually is. It is a congenital disorder, meaning it is present from conception. A Down syndrome individual has 47 chromosomes rather than normal 46 and 50% patients will suffer from associated problems such as VSD, ASD, PDA, limb anomalies, hyperechoic bowel and mental retardation. This negatively affects their quality of life and increase mortality among them.


In Pakistan where social support system is virtually non-existent, bringing up a child with mental or physical handicap is a major burden on the parents and family. Primary prevention with folic acid supplementation has a limited role in prevention of congenital birth defects. In cases where primary prevention has been unsuccessful, providing prenatal diagnosis by ultrasound scan is the next best alternative. In the above mentioned scenario, was the routine screening justified or should options second to ultrasound also have been sought? How sensitive is the ultrasound for detection of birth defects, especially in a high risk pregnancy such as this one?


Strategies to counter this issue fall under two categories: prevention and detection. Prevention includes improving the diet of women throughout their reproductive years, ensuring an adequate dietary intake of vitamins and minerals, particularly of folic acid. Careful drug history of the mother should be taken and exposure to teratogens identified and eliminated. Pre-conception and gestational diabetes should be controlled through counseling, proper weight management and administration of insulin when needed.


Detection includes identifying high risk mothers by means of proper screening. Besides 2D ultrasound, 3D ultrasound scans can be used by trained technician for accurate identification of birth defects. Moreover, in high risk mothers maternal serum alpha fetoprotein (AFP), triple test, amniocentesis, and chorionic villus sampling (CVS) can be used as these are more reliable diagnostic tests.



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