Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU).

MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metabolic control. Ideally, plasma amino acid analysis (PLAA) is used to monitor concentrations but is expensive and not widely available in local laboratories. The newborn screening program in the Philippines uses dried blood spot (DBS) analysis as an alternative where only trained healthcare providers are allowed to perform the collection at selected facilities.

Telegenetics Services in a Tertiary Hospital: Utility and Patient Satisfaction.

Background: Telegenetics has been a very useful platform to continue the different services offered by the clinical genetics team especially during the COVID-19 pandemic, when this mode of care had been maximized.

Objective: This paper aimed to present the process of telegenetics in a tertiary hospital and the feedback for this service through patient satisfaction surveys.

Methods: Telegenetics consultation is divided into three phases: pre-consultation, consultation, and post-consultation.

Attitudes of Filipino parents of children with Down syndrome on noninvasive prenatal testing.

Globally, there has been an increasing uptake of noninvasive prenatal testing (NIPT). In the Philippines, the test is currently available through private laboratories and can be availed by families who can afford the out-of-pocket cost. In a country where elective termination of pregnancy is not an option, the question arises as to the relevance of this testing, even among health professionals.

Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country.

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism resulting from a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. MSUD has been reported to be the most common inborn error of metabolism in the Philippines. We described all patients with maple syrup urine disease patients diagnosed through newborn screening during its first 2 years of implementation and the challenges encountered during their medical management.