Newborn Screening Center

Neonatal Screening Center

Newborn Disease Screening

Newborn disease screening refers to special examinations during the neonatal period for congenital and hereditary diseases that seriously threaten newborn health, providing maternal and child healthcare technology for early diagnosis and treatment.

In 2008 the Ministry of Health issued the Administrative Measures for Newborn Disease Screening. Nationally specified diseases include congenital hypothyroidism, phenylketonuria and other inherited metabolic diseases, as well as hearing impairment. Inherited-metabolic screening includes blood-spot collection, submission, laboratory testing, confirmation and treatment of positive cases; hearing screening includes initial screening, rescreening, confirmation and treatment. It is a preventive measure to improve the quality of the birth population and reduce birth defects. The 2016 Notice on Citywide Newborn Congenital Heart Disease Screening (Lu Health Planning Maternal and Child {2016} No.11) required citywide screening, early detection, diagnosis and treatment, and fewer deaths.

(I) Newborn Hearing Screening

Permanent hearing loss occurs in about 1%o–3‰ of newborns. If not detected promptly, it affects children and families, burdens society and affects socioeconomic development. Modern technology enables early hearing detection and diagnosis in newborns and infants. Confirmed permanent loss should receive intervention and rehabilitation within 6 months of birth to minimize adverse effects and help the child adapt to society.

Early detection includes screening, diagnosis, intervention, follow-up, rehabilitation training and outcome assessment. Newborn hearing screening is an objective, rapid, non-invasive electrophysiological examination, such as otoacoustic emissions and automated auditory brainstem response, performed while the newborn sleeps naturally or is calm.

China currently first recommends universal newborn hearing screening. All newborns should be screened electrophysiologically before discharge (initial screening); those who do not pass should be rescreened within 42d.

Process: normal newborns complete initial screening from 48 hours after birth until discharge. Those who fail or were missed receive bilateral rescreening at 42 days. Those who still fail are referred within 3 months to a hearing-disorder diagnosis and treatment institution designated by the provincial health authority.

Passing does not rule out hearing impairment. Hearing may fluctuate and decline over time, and obvious impairment may develop. Not all hereditary deafness is present at birth; some appears in childhood or adulthood. High-risk infants who pass may develop delayed-onset loss and need timely follow-up.

(II) Screening for Inherited Metabolic Diseases

The program includes phenylketonuria (PKU), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), glucose-6-phosphate dehydrogenase deficiency (G6PD), tandem-mass-spectrometry screening for multiple inherited metabolic diseases, molecular screening and others. Laboratory testing of indicators in dried blood spots on filter paper enables early detection and treatment.

China follows informed consent by the newborn’s guardian. Whether accepting or refusing, the guardian signs and the decision is recorded in the medical record. After parental consent, blood is collected when requirements are met.

Blood is normally collected after 48 hours and within 7 days, after adequate feeding. For prematurity, low birth weight, treatment for disease or early discharge, collection must not exceed 21 days. Site: inner or outer heel. Place 4–5 consecutive drops on filter paper, diameter ≥8 mm.

Parents can check results online 15 working days after collection. If positive, the screening institution notifies the family for repeat testing and follow-up.

(III) Newborn Congenital Heart Disease Screening

Screening aims to detect affected children early, diagnose and treat promptly, improve healthy survival and reduce deaths. In 2017 the Obstetrics and Gynecology Hospital Affiliated with Fudan University began technical guidance, staff training and quality inspection.

Target: newborns born at this institution, excluding those transferred at birth for illness. Timing: 6–72h after birth without oxygen, or at least 12h after oxygen stops.

Methods: pulse-oxygen saturation monitoring and transcutaneous auscultation.

Positive criteria: 1) grade-2-or-higher cardiac murmur; 2) transcutaneous saturation: (1) measure right hand and either foot; <90% at any site is positive. (2) If right hand or either foot is 90–94%, or the difference is >3%, repeat after 2–4h; the same result is positive.

Positive results require referral contact. The physician completes a four-part form, gives the fourth copy to the family and instructs a visit within 1 week. Positive cases are referred to a designated pediatric specialty hospital for evaluation and follow-up.

Newborn congenital-heart screening workflow

Planned subsequent programs:

1. Newborn hip ultrasound: surveys show developmental hip dislocation about 1–2% and excessive hip laxity 10–15%, which can cause unequal leg length and limping. Early signs are often inconspicuous; ultrasound has no radiation hazard, is economical, convenient and rapid, and screens these lesions effectively. Early screening enables early treatment and improves prognosis.

2. Newborn deafness-gene screening: aims to improve early diagnosis, treatment and prevention of deafness, prevent deafness-related birth defects and reduce hearing and speech disability. The population has expanded from deaf patients/high-risk families to large-scale screening of newborn, premarital, preconception and prenatal populations, with increasingly diverse methods. Hereditary deafness is a monogenic disease with strong genetic heterogeneity; at least 121 genes are known. In China neonatal incidence is 1‰–3.47‰ and genetic factors account for 50%–60%. Common deafness genes and hotspot variants are defined in Chinese people. Pathogenic-variant carrier rate is at least 15%; 2.4‰ additionally carry mitochondrial susceptibility variants. They are susceptible to environmental factors, especially aminoglycosides, and may develop deafness. Screening can detect hereditary deafness, environmentally susceptible people and potential high-risk reproductive groups early, enabling early detection, diagnosis, intervention and warning.