PubMed · 5015336
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D V Fairweather, A W Cremer. 1972-03-18. Do-it-yourself pregnancy test.. https://doi.org/10.1136/bmj.1.5802.747-b
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Recent policies of early discharge of postpartum mothers and their infants has raised concerns of possible decreased sensitivity in Guthrie bacterial inhibition assay (BIA) phenylketonuria (PKU) screening resulting in missed cases. In order to assess the potential impact of early discharge from hospital on neonatal screening for PKU and its variants, we performed 18 standard BIA screening tests on 11 newborn infants with the disease. Blood spot samples were collected from 1 to 24 h after birth and were analyzed at the Ontario Ministry of Health newborn screening laboratory according to the routine screening protocol. Except for one 4-hour postnatal sample from an infant with 'non-PKU mild hyperphenylalaninemia' (MHP) all blood samples showed phenylalanine levels > or = 240 mumol/l, irrespective of the age of the baby. During our 29 year experience with neonatal PKU screening (3.9 million infants tested), employing a cutoff blood phenylalanine of 240 mumol/l in blood spots obtained at > or = 24 h of age, only two biological false negative (one confirmed) tests were discovered in infants subsequently shown to have classical PKU: another three false negative tests were discovered in sibs of infants with MHP. The sensitivity of the screening test was 99.2% for infants with classical and mild PKU. Ascertainment of patients with MHP is unknown and is very likely incomplete. Over a 3-year period (1992-4) the specificity of the test was 99.9% for those screened after 24 h. The positive predictive value was 12.8%. Although early discharge may have an impact on other screened diseases, we conclude, from our studies, that early discharge may not affect the detection of infants with classical and mild (atypical) PKU, but would probably increase the number of infants with MHP missed using the BIA and a cutoff level of 240 mumol/l. Because of our experience and that of others, we recommend that neonates be at least 12 h of age before initial BIA PKU screening be carried out. To confirm this recommendation further prospective studies should be initiated.
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Despite increased use of prenatal ultrasonography and well-defined guidelines to aid in the detection of congenital diaphragmatic hernia (CDH), approximately half of neonates born with CDH undergo a prenatal scan that does not diagnose the defect. The purpose of this study was to (1) examine the use of prenatal ultrasonography in neonates with CDH, (2) determine possible reasons that contributed to the failure to detect the abnormality, and (3) evaluate the clinical impact of a diagnostic versus a nondiagnostic study. From 1985 to 1995, 136 consecutive neonates with CDH symptomatic within 24 hours of birth were treated at the University of Michigan Medical Center. Medical records and a University of Michigan CDH database were reviewed for prenatal ultrasound status, side of herniation, site of birth, survival, and extracorporeal life support (ECLS) use. Sonograms that did not diagnose CDH were collected and reviewed by a radiologist for possible-reasons why the diagnosis was missed. Over the 10-year period, use of ultrasonography increased from 33% to 100%, but the false-negative rate remained approximatedly 55%. In reviewing 40 nondiagnostic studies in 25 patients, 25% had technical difficulties, 57% failed to follow established guidelines (localization of the stomach and visulization of the heart with all four chambers), and 33% missed findings (intrathoracic stomach and mediastinal shift) consistent with CDH. There was no significant difference in survival or use of ECLS between neonates with a diagnostic versus nondiagnostic study (53% v 77% survival, P = 0.09; 64% v 42% ECLS, P = .29) Careful attention to following established guidelines and an increased appreciation for the abnormalities would be expected to increase the sensitivity of ultrasonography in detecting CDH. Increased prenatal diagnosis will allow for thorough evaluation for associated malformations, detection of chromosomal abnormalities, and early referra with intrauterine transport to a tertiary care center before delivery.