Single-tube nonaplex microsatellite PCR panel for preimplantation genetic diagnosis of Hb Bart's hydrops fetalis syndrome

Abstract

This single-tube nonaplex microsatellite PCR panel can be applied directly to PGD of most deletional Hb Bart's without the need for deletion-specific customization, and to linkage-based PGD of non-deletional Hb Bart's.

Lessons Learned from Two Missed Prenatal Cases of Hemoglobin Bart’s Hydrops Fetalis Until Second Trimester Despite a Nationwide Screening Program

“…Lam et al [16] successfully applied the method to determine homozygous beta-thalassemia prenatally. In addition, preimplantation genetic diagnosis is also a feasible option for at-risk couples that do not accept a 1 in 4 risk of having an affected fetus and the subsequent suffering related to abortions and termination of pregnancy [17]. Physicians should understand the benefits and disadvantages and limitations of each screening test in order to offer appropriate preconceptional counseling and prenatal management.…”

Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome

“…Single-cell isolation, lysis, and whole-genome amplification (WGA) processing have been described elsewhere. 19 This study was approved by the Institutional Review Board of the National University of Singapore (13-309E; 07-123E).…”

“…The strategy for identification and selection of markers has been described elsewhere. 19 Thirteen microsatellite markers with potentially high PIC and heterozygosity values were selected and optimized into a single-tube multiplex panel together with AMELX/Y.…”

Rapid and reliable preimplantation genetic diagnosis of common hemoglobin Bart's hydrops fetalis syndrome and hemoglobin H disease determinants using an enhanced single‐tube decaplex polymerase chain reaction assay

“…We recently described a general strategy for PGD of deletional Hb Bart's hydrops fetalis syndrome through multiplex PCR of intradeletion markers 16PTEL05 and 16PTEL06, supplemented by haplotype analysis of seven flanking microsatellite markers [8]. A significant deficiency of the marker panel, however, was its inability to detect the most common Hb H disease genotype (-a 3.7 /--).…”

“…1A). Multiplex PCR amplification was performed essentially as described [8], but with the addition of 0.05 mM of primers Y1-F (5 0 -GACCTGATGCA CTCCTCAAAG-3 0 ) and Y1-R (5 0 -AAGGATATGTATTAGGTGGAGGAGGT-3 0 ).…”