X-linked ichthyosis: Differential diagnosis of low maternal oestriol level

Liaugaudienė, O; Benušienė, Eglė; Domarkienė, I; Ambrozaitytė, Laima; Kucinskas,

doi:10.3109/01443615.2014.925857

Cited by 5 publications

(3 citation statements)

References 22 publications

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“…Excessive accumulation of cholesterol sulfate increases epidermal cell adhesion and stability, resulting in hyperkeratosis and formation of scales. Previous studies have demonstrated a low serum free estriol level in the pregnant woman carrying a fetus with XLI, suggesting that serological test may be indicative of XLI . In this study, the pregnant women from two pedigrees were admitted due to high‐risk screening results in the second trimester, and the serum free estriol had a 0.121 multiple of the median in the pregnant woman from Pedigree 1 and a 0.14 multiple of the median in the pregnant woman from Pedigree 2, both of which were lower than the reference range (0.5‐2 multiples of the median).…”

Section: Discussionmentioning

confidence: 71%

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Zhang

Huang

Lin

et al. 2020

Clinical Laboratory Analysis

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Background X‐linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin. Steroid sulfatase (STS) gene, which is located at chromosome Xp22.31, has been identified as the pathogenic gene of XLI. Methods In this study, chromosome karyotype analysis, bacterial artificial chromosomes‐on‐Beads™ (BoBs) assay, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP‐array) were employed for the prenatal diagnoses in three pregnant women with high‐risk serological screening results and a pregnant woman with mental retardation. Results STS deletion was identified at chromosome Xp22.31 in all four fetuses. Postnatal follow‐up confirmed the diagnosis of ichthyosis in two male fetuses and revealed normal dermatological manifestations in other two female fetuses carrying ichthyosis. Conclusion The results of the present study demonstrate that a combination of karyotypying, prenatal BoBs, FISH, and SNP‐array may avoid the missed detection of common microdeletions and ensure the accuracy of the detection results, which provides a feasible tool for the reliable etiological diagnosis and better genetic counseling of XLI.

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Section: Discussionmentioning

confidence: 71%

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Zhang

Huang

Lin

et al. 2020

Clinical Laboratory Analysis

View full text Add to dashboard Cite

show abstract

“…4 Further uses of maternal serum screening include screening for neural tube defects with increased AFP levels, and for various fetal and maternal disorders with low maternal estriol levels. 5,6 Noninvasive prenatal testing (NIPT) was first introduced in 2011 7 and has become widely used in the past decade. Owing to its high sensitivity and specificity for the detection of Down syndrome, in conjunction with higher positive predictive values compared with conventional maternal serum screening, 8 it has been suggested that NIPT can replace invasive testing in cases of abnormal maternal serum screening.…”

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%