Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia

CAH Newborn Screening in India: Challenges and Opportunities

“…The very high proportion of pregnant Indian women with little antenatal care, and that birth weight of Indian babies tend to be lesser than the Western babies for comparable gestational age, underscore the need of local birth weight-based cutoffs. In such situation, birth weight-based cut-offs for 17OHP may be used based on recently compiled data from Indian cohort [ 5 ]. Similar weight-based cutoffs were being used in few European countries and Japan [ 25 ].…”

“…The levels of 17OHP are influenced by maturity, stress, maternal steroid administration and age. Cord blood is easier and non-invasive, but is not recommended for CAH screening as the steroid surge at birth results in significantly higher 17OHP levels which can be difficult to interpret [ 4 , 5 ]. Capillary blood samples (usually collected later by heel prick onto collection paper) are ideal for measurement of 17OHP for NBS.…”

“…Capillary blood samples (usually collected later by heel prick onto collection paper) are ideal for measurement of 17OHP for NBS. They also provide an opportunity to screen for other disorders of metabolism in the same sample [ 5 , 6 ]. In a study on newborn screening of 3080 babies from Southern India, prematurity significantly increased the mean 17OHP values from 4.86 ± 2.47 to 8.97 ± 7.43 ng/mL and the median 17OHP value from 4.5 to 6.3 ng/mL (measured on competitive immunoassay) [ 7 ].…”

“…The sample collection time for newborn screening for CAH is, therefore, a balance between practical considerations about coverage, the best time to assess 17OHP level and the need to have results early enough to minimize the risk of salt-wasting adrenal crisis. Therefore, we suggest the sample for NBS to be taken at least 24 h later, but may be taken up to day 7 of life, using heel-prick [ 5 ]. Preterm babies should be screened at 2 weeks and 4 weeks of age or at discharge from NICU, to decrease the risk of missing a case of CAH [ 3 ].…”

Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal

“…Ya en el campo de las AG, su diagnóstico prenatal va a recoger todos esos preceptos. Patologías como la hiperplasia suprarrenal congénita, que causa virilización del feto femenino y que puede ser tratada con corticosteroides (66), y en los casos de formas severas de esta condición, se pueden remitir a centros de referencia debido a la posibilidad de crisis adrenérgica al nacimiento, una emergencia endocrina que pone en riesgo la vida del recién nacido (67). Las malformaciones del tracto genitourinario como hipospadias o persistencia de valvas uretrales requieren un seguimiento periódico ante la posibilidad de desarrollar una obstrucción tardía que pueda afectar gravemente al desarrollo de los riñones y pulmones (68); hallazgos como un micropene pueden ser marcadores de patologías más complejas e importantes como aneuploidías fetales (T21, XXY, XXX), mutaciones genéticas (síndrome de Noonan, síndrome de Prader-Willi, síndrome de Robinow) y patologías del desarrollo hormonal (déficit de hormona del crecimiento, síndrome de hidantoína fetal, deficiencia de 5--reductasa) (69); en los casos que se considere pertinente se tiene la posibilidad de interrumpir la gestación en aquellas patologías con mal pronóstico o con una importante morbilidad (megalouretra congénita, extrofia cloacal, síndromes genéticos), posibilidad que está recogida en las guías clínicas de las principales sociedades ginecológicas (70,71).…”