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This research uses the Liquid Chromatography coupled to tandem Mass Spectrometry (LC-MS / MS) technique on dried blot spot samples for the neonatal screening of congenital adrenal hyperplasia.
The main objective of this study is to demonstrate that this technique allow dosage of adrenal steroids on dried blot spot samples as efficiently and with the same sensitivity than the current technic on a cohort of 132 newborns aged 2 to 5 days, with a gestational age greater than or equal to 30 weeks of amenorrhea.
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| Measure | Description | Time Frame |
|---|---|---|
| Intra-class correlation coefficient between the values of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term in neonates aged from 48 to 120 hours of life | Intra-class correlation coefficient between the values of 21 Deoxycortisol (21DF), 17hydroxyprogesterone (17OHP), pregnenolone, 17hydroxypregnenolone and cortisol assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term in neonates aged from 48 to 120 hours of life | 15 months |
| Measure | Description | Time Frame |
|---|---|---|
| Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates according to the term of birth (weeks) | Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates aged from 48 to 120 hours of life according to the term of birth (weeks) |
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Inclusion Criteria:
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National neonatal screening covers all newborns aged between 48 and 120 hours, regardless of birth term. Premature babies born before 30 weeks of amenorrhoea are cared for in specialized neonatal or intensive care units and are intensively monitored to rule out any risk of not diagnosing HCS in a child with it. This is why our study will be conducted on a newborn population with a birth term greater than 30 weeks of amenorrhoea.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Pôle de périnatalité Service de néonatologie | Paris | Île-de-France Region | 75012 | France |
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| ID | Term |
|---|---|
| D000312 | Adrenal Hyperplasia, Congenital |
| ID | Term |
|---|---|
| D047808 | Adrenogenital Syndrome |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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| 15 months |
| Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates of life according to the mode of delivery (low or Caesarean section before work) | Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates aged from 48 to 120 hours of life according to the mode of delivery (low or Caesarean section before work) | 15 months |
| Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates according to the presence or not of a corticotherapy antenatal. | Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates aged from 48 to 120 hours of life according to the presence or not of a corticotherapy antenatal. | 15 months |
| Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates aged from 48 to 120 hours of life according to the presence or not of non-maternal-fetal infection | Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates aged from 48 to 120 hours of life according to the presence or not of non-maternal-fetal infection (chorioamnionitis, neonatal infection at the time of screening) | 15 months |
| Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates aged from 48 to 120 hours of life according to the presence or not of newborn stress. | Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates aged from 48 to 120 hours of life according to the presence or not of newborn stress (septic shock and/or hypovolemic shock). | 15 months |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D043202 | Steroid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D000307 | Adrenal Gland Diseases |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |