Development of a common platform for the noninvasive prenatal diagnosis of X‐linked diseases
Prenatal Diagnosis, 2018•Wiley Online Library
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 …
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 …
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.
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