Noninvasive Prenatal Detection of Hemoglobin Bart hydrops fetalis via maternal plasma dispensed with parental haplotyping using the Semiconductor Sequencing Platform (SSP)

Thalassemia is one of most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart ’s hydrops fetalis syndrome was caused by a homozygous SEA deletion (--/--) in the HBA gene. Few studies has proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed .

Source: American Journal of Obstetrics and Gynecology - August 4, 2019 Category: OBGYN Authors: Jiexia Yang, Chun-fang Peng, Yiming Qi, Xing-qiang Rao, Fangfang Guo, Yaping Hou, Wei He, Jing Wu, Yang-yi Chen, Xin Zhao, Yu-nan Wang, Haishan Peng, Dongmei Wang, Li Du, Ming-yong Luo, Quan-fei Huang, Hai-liang Liu, Aihua Yin Tags: Original Research: Obstetrics Source Type: research