A groundbreaking advancement in newborn care is revolutionizing the early detection of critical congenital heart disease (CCHD). Pulse oximetry screening (POS), a simple, non-invasive test, is proving to be a game changer, significantly improving the early diagnosis and treatment of this often life-threatening condition. Leading experts, Dr. Jose Jonas Del Rosario and Dr. Eva Maria Cutiongco-Dela Paz, recently presented their insights on POS and Congenital Heart Disease (CHD) respectively, highlighting the importance of this innovative technology.
Both are specialists par excellence. Del Rosario is an interventional pediatric cardiologist and an academician, while Cutiongco-Dela Paz is a pediatrician and clinical professor and geneticist.
Pulse Oximetry Screening: A Simple Yet Powerful Tool
In explaining the mechanics of POS, Del Rosario said that this is a painless procedure that involves attaching a small sensor to the newborn's right hand and one foot. The sensor measures the oxygen saturation (SpOâ‚‚) in the blood, ideally between 24 and 48 hours after birth. A reading of 95% or higher indicates a negative screen for CCHD.
He presented a clear flowchart illustrating the simple screening protocol, emphasizing its ease of implementation even in resource-limited settings. Currently, the screening is typically performed only once.
The benefits of POS extend beyond CCHD detection. Del Rosario highlighted its ability to identify other critical conditions such as sepsis, respiratory distress syndrome (RDS), persistent pulmonary hypertension of the newborn (PPHN), meconium aspiration, hypothermia, hemoglobinopathy, pneumonia, and pneumothorax. This makes POS a valuable tool for early intervention and improved newborn outcomes. The use of motion-tolerant pulse oximeters, some even smartphone-compatible for data gathering, further enhances the practicality and efficiency of screening. Importantly, PhilHealth has committed in principle to covering POS as part of its expanded newborn screening program, underscoring its significance in national healthcare. However, further planning is needed to establish comprehensive referral networks and clinical pathways.
Understanding CHD
Cutiongco-Dela Paz provided a comprehensive overview of this complex condition. She categorized CHD into three main types: syndromic CHD, which is associated with other developmental abnormalities; non-syndromic inherited CHD, running in families; and non-syndromic, isolated CHD, with no known hereditary component or associated syndrome. She emphasized the crucial role of genetic factors in CHD, highlighting chromosomal aneuploidies like trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and monosomy X as major etiologies.
She also discussed copy number variants (CNVs) and their association with CHD. Up to 15% of CHD patients have pathogenic CNVs, with 22q11 deletion syndrome being the most prevalent. She detailed the impact of specific genes, such as NKX2.5, on the development and prognosis of CHD.
Single gene disorders account for a significant portion (12%) of CHD cases, with most arising de novo (new mutations) rather than being inherited. Inherited variants in genes such as GDF1, MYH6, and FLT4, contribute to a smaller percentage of cases. Cutiongco-Dela Paz used Holt-Oram syndrome as an example, an autosomal dominant condition caused by mutations in the TBX5 gene, leading to skeletal and cardiac abnormalities. She presented a flowchart outlining the process of genetic consultation, pre-test counseling, and testing, stressing the importance of genetic counselors in supporting families navigating complex diagnoses and decisions.
Dr. Cutiongco-Dela Paz concluded by recommending genetic testing for patients with syndromic CHD, familial CHD, complex isolated CHD in newborns and fetuses, or those with particular cardiac lesions. She underscored the clinical utility of genetic diagnosis and the crucial role of genetic counseling to guide informed decisions and provide comprehensive family support. The integration of genetic testing into standard cardiology practices requires careful management of the increasing amount of genetic information generated. The key is to maximize the clinical utility of such testing while ensuring the well-being and emotional support of affected families.
Drs. Jonas Del Rosario & Eva Marie Cutiongco-Dela Paz
