ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2018) 15 8.8 | DOI: 10.1530/ey.15.8.8

ESPEYB15 8 Adrenals Important for Clinical Practice (5 abstracts)

8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA

Ma D , Yuan Y , Luo C , Wang Y , Jiang T , Guo F , Zhang J , Chen C , Sun Y , Cheng J , Hu P , Wang J , Yang H , Yi X , Wang W , Asan & Xu Z


State key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing, China


To read the full abstract: Sci Rep. 2017; 7(1): 7427

Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetuses revealed significant side effects in the neurocognitive development. However, if prenatal diagnosis and treatment of 21-hydroxylase deficiency is considered, a proper method for genetic diagnosis is required to avoid unnecessary treatment of unaffected pregnancies. Until recently, this was done by invasive, and thus not risk-free methods on fetal material obtained by chorionic villus sampling or amniocentesis around 10-12 weeks gestation. More recently the possibility of fetal sexing from a maternal blood sample around 6-8 weeks gestation has brought a first advantage for 46,XY pregnancies.

Here, Ma et al. developed a reliable, cost-effective, non-invasive method to diagnose CYP21A2 mutations from family trios using targeted capture sequencing based on haplotype linkage analysis. They were able to diagnose the genotype of 14 fetuses at risk for CAH correctly from maternal plasma DNA obtained at 8-19 weeks gestation. It appears that this method has the potential to analyze different types and locations of mutations in the same process, which is certainly needed for CYP21A2 analysis, and may be of use for non-invasive prenatal diagnosis of other monogenetic disorders.

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