Development of a common platform for the noninvasive prenatal diagnosis of X‐linked diseases. (29th August 2018)

• Record Type: Journal Article
• Authors: Jang, Se Song; Lim, Byung Chan; Yoo, Seong‐Keun; Shin, Jong‐Yeon; Seo, Jeong‐Sun; Hwang, Doyeong; Yoo, Ki‐Young; Chae, Jong Hee; Kim, Jong‐Il
• Is Part Of: Prenatal diagnosis. Volume 38:Number 11(2018)
• Page Start: 835
• Page End: 840
• Publication Date: 2018-08-29
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5337
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: The aim of this study was to develop a common targeted massively parallel sequencing platform for the noninvasive prenatal diagnosis (NIPD) of multiple X‐linked diseases. Method: The custom capture probe was designed to target 33 genes and recombination hotspots. We tested the carrier mother and male proband pair of 6 families. Plasma DNA of the pregnant carrier mother was collected at different gestational weeks and sequenced. The fetal genotype of each family was determined by estimating the imbalance between the 2 maternal haplotypes constructed using a common custom‐designed platform. Results: The targeted sequencing of the maternal, proband, and fetal genomic DNAs and maternal plasma DNAs resulted in uniform coverage across the target region. Three to 5 recombination points were observed in each sample. However, these recombination points did not affect the haplotype dosage analysis for fetal genotype prediction. Consequently, all fetal genotypes in the 6 families obtained from haplotype dosage analysis of maternal plasma sequencing data were predicted correctly. Conclusions: Since a single platform that covers multiple diseases may prevent the need for disease‐specific probes for the NIPD of individual disorders, this approach may provide a practical advantage for clinically implementing the NIPD of X‐linked diseases. Abstract : What is already known about this topic? The noninvasive prenatal diagnosis of X‐linked disease can be accomplished via the haplotyping of 2 maternal alleles and subsequent haplotype dosage estimation. What does this study add? By designing a capture probe for multiple X‐linked diseases that can share a haplotyping process, the noninvasive prenatal diagnosis of multiple X‐linked diseases can be achieved efficiently.