Point-of-Care Newborn Testing Could Improve Pediatric Sickle Cell Care

Obiageli E. Nnodu

Newborn screening for sickle cell disease could be a feasible and easily-implemented strategy for currently-existing primary healthcare programs designed to provide immunizations, according to a new study.

The findings, from a team of Nigeria-based investigators, could particularly benefit strategies of screening for institutions and facilities in low-income areas where sickle cell disease is more prominent and burdensome on the pediatric population.

Investigators, led by Professor Obiageli E. Nnodu, of the Centre of Excellence for Sickle Cell Disease Research and Training at the University of Abuja, sought to address the issue of the hematologic condition as it has come to effect their region of sub-Saharan Africa. As they noted, newborn screening is “paramount” for early diagnosis and expedient enrollment of pediatric patients to comprehensive care programs.

But such efforts have been limited.

“Up to now, this strategy has been greatly impaired in resource-poor countries, because screening methods are technologically and financially intensive; affordable, reliable, and accurate methods are needed,” they wrote.

Nnodu and colleagues sought to assess the feasibility of a new sickle cell disease screening program run through innovative, point-of-care testing devices provided to existing primary care immunization programs.

The feasibility trial was conducted at 5 different centers within Gwagwalada Area Council in Abuja. Clinicians screened for sickle cell disease systematically, consecutive with babies and infants ≤9 months old who presented to immunization clinics at the centers, via ELISA-based point-of-care test HemoTypeSC.

A high-performance liquid chromatography (HPLC) test—considered the gold standard for sickle cell disease detectation—in combination with the HemoTypeSC and an immunoassay-based test (SickleSCAN) were provided to a subgroup of consecutive babies whose mothers gave consent at immunization clinics.

From July 2017 to September 2019, clinicians screened 3603 newborn babies and infants who presented for immunization with the ELISA-based point-of-care test. Just 51 (1%) children were identified with sickle cell anemia (HbSS); 4 were heterozygous for HbS and HbC; 740 (21%) were sickle cell trait (HbAS), 34 were heterozygous for HbA and HbC (HbAC).

The remaining 2774 (77%) were observed to have normal hemoglobin.

Of the 55 confirmed sickle cell disease patients, three-fourths (41; 75%) were enrolled into a program that provided them free folic acid and penicillin. Over approximately 9 months, 36 (88%) completed care (median follow-up, 226 days [IQR, 198-357]).

In a head-to-head comparison between the 2 point-of-care tests and HPLC, all 3 showed concordance in screening 313 newborns babies—each showed 100% specificity and sensitivity.

Investigators noted their approach allowed a multitude of benefits for streamlined sickle cell disease screening, identification, and care: “the reliability of the point-of-care screening test used was excellent; costs were restricted to the point-of-care screening test devices and support of children with sickle cell disease to attend follow-up appointments; and no additional staff members were needed.”

All these factors, they wrote, could equate to a similar approach being easily and rapidly scaled up throughout Nigeria and other sub-Saharan countries.

“This integration would be in line with national multisectoral action plans for prevention and control of non-communicable diseases (2019—25),” investigators concluded. “Furthermore, the integration of newborn screening into existing primary health-care immunization programs is feasible and could rapidly be implemented with limited resources in other countries in sub-Saharan Africa.”

The study, “Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study,” was published online in The Lancet Haematology.