scholarly journals Cutoff Levels of 17-α-Hydroxyprogesterone in Neonatal Screening for Congenital Adrenal Hyperplasia Should Be Based on Gestational Age Rather Than on Birth Weight

2005 ◽  
Vol 90 (7) ◽  
pp. 3904-3907 ◽  
Author(s):  
Hetty J. van der Kamp ◽  
Caren G. M. Oudshoorn ◽  
Bert H. Elvers ◽  
Maja van Baarle ◽  
Barto J. Otten ◽  
...  
Keyword(s):  
Regression Analysis ◽  
Birth Weight ◽  
Congenital Adrenal Hyperplasia ◽  
Gestational Age ◽  
Adrenal Hyperplasia ◽  
Screening Programs ◽  
Specificity And Sensitivity ◽  
Reference Curves ◽  
Cutoff Levels

Abstract Objective: In newborn screening programs for congenital adrenal hyperplasia, 17-α-hydroxyprogesterone (17OHP) cutoff levels are based on birth weight (BW) or on gestational age (GA). We investigated which approach would result in the greatest specificity and sensitivity. Study design: For the determination of 17OHP, a neonatal 17OHP assay was used in filter paper blood of 9492 newborns. The relationships between 17OHP and BW and between 17OHP and GA were studied by regression analysis. Reference curves with a specificity of 99.95% were constructed with the method that summarizes the distribution by three smoothed curves representing the skewness (L curve), the median (M curve), and the coefficient of variation (S curve). Median cutoff levels for BW and for GA according to the 99.95% reference curves were calculated. Results: Regression analysis showed that GA is a better predictor of 17OHP than BW (R2 was 50.6 vs. 35.8%, respectively). At a specificity of 99.95%, the calculated median 17OHP cutoff level was lower for GA [12.6 μg/liter (38 nmol/liter)] than for BW [17.6 μg/liter (54 nmol/liter)], thus leading to a greater sensitivity. Conclusion: This study demonstrates that GA is a better predictor of 17OHP in newborns and will result in greater specificity than BW despite the fact that the determination of GA might be less reliable than BW.

scholarly journals Neonatal screening for congenital adrenal hyperplasia

2004 ◽  
pp. U71-U75 ◽  
Author(s):  
HJ van der Kamp ◽  
JM Wit
Keyword(s):  
Birth Weight ◽  
Congenital Adrenal Hyperplasia ◽  
Gestational Age ◽  
Filter Paper ◽  
Early Recognition ◽  
Enzyme Linked Immunosorbent Assay ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Specificity And Sensitivity ◽  
The Usa

Congenital adrenal hyperplasia (CAH) is well suited for newborn screening, as it is a common and potentially fatal disease which can be easily diagnosed by a simple hormonal measurement in blood. Moreover, early recognition and treatment can prevent severe salt wasting, dehydration and death and shorten the time of male sex assignment in virilised females.In screening programmes, 17alpha-hydroxyprogesterone (17OHP) is measured in filter paper blood spots obtained by a heel puncture preferably between 2 and 4 days after birth. Three assay techniques are utilised for initial screening: radio-immunoassay (USA), enzyme-linked immunosorbent assay (Japan) and time-resolved fluoro-immunoassay (Europe). Preterm newborns have higher 17OHP concentrations in serum than babies born at term. Therefore, cut-off levels are based on gestational age (in Japan and Europe) or on birth weight (in the USA). There is a considerable variation in cut-off levels from one programme to another. This is most likely due to the different antibodies and reagents used, varying thickness and density of filter paper used for sample collection and, most significantly, the characteristics of the reference population (in terms of birth weight and gestational age).More than 30 million newborns have been screened. The prevalence of CAH in the USA and Europe is approximately 1:15 000-16 000, and slightly lower in Japan (1:19 000). In general, severe salt wasting can be prevented, but there is a remarkable variation in the number of false-positives and false-negatives among the various programmes. Ongoing refinement of cut-off levels is needed to improve specificity and sensitivity.

Combined Gestational Age- and Birth Weight–Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia

2019 ◽  
Vol 104 (8) ◽  
pp. 3172-3180 ◽  
Author(s):  
Naomi Pode-Shakked ◽  
Ayala Blau ◽  
Ben Pode-Shakked ◽  
Dov Tiosano ◽  
Naomi Weintrob ◽  
...  
Keyword(s):  
Birth Weight ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Gestational Age ◽  
Adrenal Hyperplasia

scholarly journals Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia

2011 ◽  
Vol 55 (8) ◽  
pp. 632-637 ◽  
Author(s):  
Giselle Hayashi ◽  
Cláudia Faure ◽  
Maria Fernanda Brondi ◽  
Carla Vallejos ◽  
Daiana Soares ◽  
...  
Keyword(s):  
Birth Weight ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
False Positive ◽  
Low Birthweight ◽  
Adrenal Hyperplasia ◽  
Blood Samples ◽  
Term Newborns ◽  
Positive Results ◽  
Cutoff Levels

OBJECTIVE: To evaluate weight-adjusted strategy for levels of neonatal-17OHP in order to improve newborn screening (NBS) efficiency. SUBJECTS AND METHODS: Blood samples collected between 2-7 days of age from 67,640 newborns were evaluated. When N17OHP levels were > 20 ng/mL, and a second sample was requested. We retrospectively analyzed neonatal-17OHP levels measured by Auto DELFIA- B024-112 assay, grouped according to birth-weight: G1: < 1,500 g, G2: 1,501-2,000 g, G3: 2,000-2,500 g and G4: > 2,500 g. 17OHP cutoff values were determined for each group using the 97.5th, 99th, 99.5th and 99.8th percentiles. RESULTS: 0.5% of newborns presented false-positive results using the cutoff level > 20 ng/mL for all groups. Neonates of low birthweight made up 69% of this group. Seven full-term newborns presented congenital adrenal hyperplasia (CAH) and, except for one of them, 17OHP levels were > 120 ng/mL. Only the 99.8th percentile presented higher predictive positive value (2%), and lower rate of false-positives in all groups. CONCLUSIONS: We suggest the use of 99.8th percentile obtained by weight-adjusted N17OHP values of healthy newborns to reduce the rate of false-positive results in NBS.

Current and future perspective of newborn screening: an Indian scenario

2016 ◽  
Vol 29 (1) ◽  
Author(s):  
Gurjit Kaur ◽  
Kiran Thakur ◽  
Sandeep Kataria ◽  
Teg Rabab Singh ◽  
Bir Singh Chavan ◽  
...  
Keyword(s):  
Health Care ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Health Care System ◽  
Congenital Hypothyroidism ◽  
G6pd Deficiency ◽  
Metabolic Disorders ◽  
Adrenal Hyperplasia ◽  
Screening Programs ◽  
Care System

AbstractNewborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage.We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate.In India, in spite of the high birth rate and high frequency of metabolic disorders, newborn screening programs are not part of the health care system. At Union Territory, Chandigarh in 2007, newborn screening was initiated and is currently ongoing for three disorders, that is, congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Prevalence of these disorders is found to be 1:1400 for congenital hypothyroidism, 1:6334 for congenital adrenal hyperplasia, and 1:80 for G6PD deficiency.Mandatory newborn screening for congenital hypothyroidism should be implemented in India, and other disorders can be added in the screening panel on the basis of region-wise prevalence. The objective of this review is to provide insight toward present scenario of newborn screening in India along with recommendations to combat the hurdles in the pathway of mandatory newborn screening.

Umbilical Morphology: Normal Values for Neonatal Periumbilical Skin Length

PEDIATRICS ◽  
1992 ◽  
Vol 90 (1) ◽  
pp. 47-49
Author(s):  
Aengus S. O'Marcaigh ◽  
Lora B. Folz ◽  
Virginia V. Michels
Keyword(s):  
Regression Analysis ◽  
Birth Weight ◽  
Gestational Age ◽  
Normal Values ◽  
The Other ◽  
Male And Female ◽  
Rieger Syndrome ◽  
Neonatal Diagnosis ◽  
Robinow Syndrome ◽  
Aarskog Syndrome

Malformations of the umbilicus are a feature of many dysmorphic syndromes including Rieger syndrome, Robinow syndrome, and Aarskog syndrome. The characteristic umbilical malformation in Rieger syndrome consists of redundant periumbilical skin which extends along the cord for an excessive distance. Although the measurement of umbilical skin length plays an important role in the neonatal diagnosis of Rieger syndrome, normal values for this measurement in healthy neonates have not been established. Umbilical skin length was measured in 104 healthy neonates. The length to which the umbilical skin extended along the cranial aspect of cord (mean 11.53 mm, SD 3.58) was significantly longer than the umbilical skin length along the caudal aspect (mean 8.71 mm, SD 2.89) (P &lt; .05). Multiple regression analysis revealed a significant association between age and umbilical skin length. Birth weight, length, and gestational age were not significantly associated with umbilical skin length when adjusted for the other three variables. No significant differences in umbilical skin length were observed between male and female groups. The above normal values should aid in the neonatal diagnosis of Rieger syndrome, and furthermore it is recommended that cranial umbilical skin length measurement be included in the examination of the dysmorphic child.

Screening for Congenital Adrenal Hyperplasia: The Delfia Screening Test Overestimates Serum 17-Hydroxyprogesterone in Preterm Infants

PEDIATRICS ◽  
1996 ◽  
Vol 97 (1) ◽  
pp. 100-102 ◽  
Author(s):  
Saad Al Saedi ◽  
Heather Dean ◽  
William Dent ◽  
Elizabeth Stockl ◽  
Catherine Cronin
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Preterm Infants ◽  
Gestational Age ◽  
Adrenal Hyperplasia ◽  
Blood Spots ◽  
Healthy Infants ◽  
Extraction Step ◽  
Postconceptional Age ◽  
17 Hydroxyprogesterone ◽  
Over Time

Objective. To compare 17-hydroxyprogesterone (17-OHP) levels measured by quantitative serum radioimmunoassay (RIA), including an extraction step, and by screening fluoroimmnoassay (FIA) on blood spots in preterm infants. Methods. Subjects were 39 healthy infants born at less than 31 weeks' gestational age. Each infant had weekly blood sampling, and RIA and FIA were performed on each sample. Results. Two hundred twenty-seven samples were taken at 28 to 41 weeks' postconceptional age. Mean ± SD 17-OHP measured by RIA was 11.4 ± 11.1 nmol/L (0.4 ± 0.4 µg/dL), and decreased over time. Mean ± SD 17-OHP measured by FIA was 38.96 ± 37.3 nmol/L, greater than 17-OHP (RIA). Log(δFIA-RIA) was inversely related to postconceptional age (R2 = .39). Conclusion. Screening FIA of blood spots overestimates levels of 17-OHP in preterm infants and should not be used to determine the likelthood of congenital adrenal hyperplasia in this population. We have abandoned FIA screening for congenital adrenal hyperplasia in infants weiging less than 1500 g.

THE RELATIONSHIP OF PLACENTAL THICKNESS WITHGESTATIONALAGE IN THIRD TRIMESTER AND PROBABLE FETAL OUTCOME

2021 ◽  
pp. 64-66
Author(s):  
Sambhunath Bandyopadhyay ◽  
Ritayan Sasmal ◽  
Debarshi Jana
Keyword(s):  
Birth Weight ◽  
Gestational Age ◽  
Age Determination ◽  
Fetal Outcome ◽  
Inclusion Criteria ◽  
Third Trimester ◽  
Relationship Of ◽  
The Relationship ◽  
Placental Thickness

Accurate gestational age determination is very important for management of continuation and termination planning of the pregnancy. rd To establish placental thickness as a parameter for determination of gestational age and fetal growth pattern at 3 trimester. 100 primigravida women who are fullling the inclusion criteria and attend gynae &obs OPD or admitted in their third trimester at IPGME&R from January 2017 to june 2018. Placental thickness at 3rd trimester USG scan is moderately correlated with gestational age, if placental thickness expressed in millimeter then it correlated with gestational age at weeks. rd st Placental thickness with >3.2 cm (32 mm) at 3 trimester almost associated with good fetal outcome, with APGAR score >8 at 1 min and birth weight >2500 gm.

scholarly journals Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia

2019 ◽  
Vol 5 (3) ◽  
pp. 33 ◽  
Author(s):  
Eric R. Bialk ◽  
Michael R. Lasarev ◽  
Patrice K. Held
Keyword(s):  
Birth Weight ◽  
Congenital Adrenal Hyperplasia ◽  
False Positive ◽  
False Positive Rate ◽  
Cross Reactivity ◽  
Adrenal Hyperplasia ◽  
Screening Assay ◽  
Study Results ◽  
Second Tier ◽  
17 Hydroxyprogesterone

Newborn screening for congenital adrenal hyperplasia (CAH) has one of the highest false positive rates of any of the diseases on the Wisconsin panel. This is largely due to the first-tier immune assay cross-reactivity and physiological changes in the concentration of 17-hydroxyprogesterone during the first few days of life. To improve screening for CAH, Wisconsin developed a second-tier assay to quantify four different steroids (17-hydroxyprogesterone, 21-deoxycortisol, androstenedione, and cortisol) by liquid chromatography–tandem mass spectrometry (LC–MSMS) in dried blood spots. From validation studies which included the testing of confirmed CAH patients, Wisconsin established its own reporting algorithm that incorporates steroid concentrations as well as two different ratios—the birth weight and the collection time—to identify babies at risk for CAH. Using the newly developed method and algorithm, the false positive rate for the CAH screening was reduced by 95%. Patients with both classical forms of CAH, salt-wasting and simple virilizing, were identified. This study replicates and expands upon previous work to develop a second-tier LC–MSMS steroid profiling screening assay for CAH. The validation and prospective study results provide evidence for an extensive reporting algorithm that incorporates multiple steroids, birth weight, and collection times.

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