Perfusion Index and Pulse Oximetry Screening for Congenital Heart Defects.
To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals.



A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission. Eligible infants underwent pre- and postductal POX and PI screening after routine discharge examination. Targeted sCHD were anatomically defined. Positivity was defined as postductal oxygen saturation (SpO2) ≤95%, prepostductal SpO2gradient >3%, or PI <0.90. Confirmed positive cases underwent echocardiography for definitive diagnosis. Missed cases were identified by consulting clinical registries at 6 regional pediatric heart centers. Main outcomes were incidence of unexpected sCHD; proportion of undetected sCHD after discharge in tertiary and nontertiary hospitals; and specificity, sensitivity, positive predictive value, and negative predictive value of combined screening.



One hundred forty-two sCHD were detected prenatally. Prevalence of unexpected sCHD was 1 in 1115 live births, similar in tertiary and nontertiary hospitals. Screening identified 3 sCHD (low SpO2, 2; coarctation for low PI, 1). Four cases were missed. In tertiary hospitals, 95% of unsuspected sCHDs were identified clinically, whereas only 28% in nontertiary units; in nontertiary units PI-POX screening increased the detection rate to 71%.



PI-POX predischarge screening provided benefits in nontertiary units, where clinical recognition rate was low. PI can help identify coarctation cases missed by POX but requires further evaluation in populations with higher rates of missed cases.
Neonatal Intensive Care Unit, Department of Clinical Sciences and Community Health, Fondazione Cà Granda Ospedale Maggiore Policlinico, University of Milan, Italy. Electronic address: federico.schena@mangiagalli.it.
Federico
F
Schena
Neonatal Intensive Care Unit, Ospedale M. Melloni ASST Fatebenefratelli Sacco, Milan, Italy.
Irene
I
Picciolli
Maternal and Child Health Department, Del Ponte Hospital, A.O. Di Circolo Fondazione Macchi, Varese, Italy.
Massimo
M
Agosti
Department of Neonatology, Policlinico A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.
Antonio Alberto
AA
Zuppa
Department of Pediatrics, University of Milan, Ospedale dei Bambini V. Buzzi, Milan, Italy.
Gianvincenzo
G
Zuccotti
Department of Pediatrics and Neonatology, Magenta Hospital AO Ospedale Civile di Legnano, Magenta, Italy.
Luciana
L
Parola
Neonatology and Neonatal Intensive Care Unit, ASO St Croce and Carle Hospital, Cuneo, Italy.
Giulia
G
Pomero
Department of Pediatrics and Neonatology, SS Trinità Hospital Borgomanero, Novara, Italy.
Giorgio
G
Stival
Department of Pediatrics, Bressanone Hospital, Brixen, Italy.
Markus
M
Markart
Department of Neonatology, S. Chiara Hospital, Apss Trento, Italy.
Silvia
S
Graziani
Woman and Child Health Department, Pediatric and Neonatology Division, Ospedale della Versilia, Viareggio, Italy.
Luigi
L
Gagliardi
Department of Neonatology, Bolognini Hospital, Seriate, Bergamo, Italy.
Cristina
C
Bellan
Department of Sciences for Health Promotion and Mother and Child Care Giuseppe D'Alessandro, University of Palermo, Palermo, Italy.
Simona
S
La Placa
Department of Pediatrics, Lodi Hospital, Lodi, Italy.
Giuseppe
G
Limoli
Neonatal Intensive Care Unit, Carlo Poma Hospital, Mantova, Italy.
Gabriella
G
Calzetti
Departement of Pediatrics, Castelli Hospital, Verbania, Italy.
Andrea
A
Guala
Neonatal Intensive Care Unit, S Antonio Abate Hospital, Trapani, Italy.
Enza
E
Bonello
Neonatal Intensive Care Unit, Department of Clinical Sciences and Community Health, Fondazione Cà Granda Ospedale Maggiore Policlinico, University of Milan, Italy.
Fabio
F
Mosca
D001784:Blood Gas Analysis / Q000379:methods; D015331:Cohort Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000453:epidemiology; D006771:Hospitals, Maternity; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D007558:Italy; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D010092:Oximetry / Q000379:methods*; D010101:Oxygen Consumption / Q000502:physiology; D011446:Prospective Studies; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D062606:Tertiary Care Centers
congenital heart defects; neonatal screening; perfusion index; pulse oximetry