对选择植入前基因筛查/诊断（PGS/D）的体外受精患者进行染色体异常的产前筛查：个性化医疗时代需要修订算法。
Prenatal screening for chromosomal abnormalities in IVF patients that opted for preimplantation genetic screening/diagnosis (PGS/D): a need for revised algorithms in the era of personalized medicine.
作者信息
Takyi Afua, Santolaya-Forgas Joaquin
机构信息
Rutgers Robert Wood Johnson Medical School, New Brunswick, USA.
Perinatal Institute, Jersey Shore University Medical Center, 1944 Route 33, Suite 204, Neptune, NJ, 07753, USA.
出版信息
J Assist Reprod Genet. 2017 Jun;34(6):723-724. doi: 10.1007/s10815-017-0907-5. Epub 2017 Mar 29.
Abstract
Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients.
摘要
产科医生为所有孕妇，包括接受体外受精（IVF）和植入前基因筛查/诊断（PGS/D）的孕妇，提供针对最常见染色体异常的产前筛查。我们认为，母体循环中的游离胎儿DNA，连同孕中期母体血清甲胎蛋白（MSAFP）和超声成像，是IVF-PGD/S患者染色体异常和先天性异常的最佳产前筛查测试，因为所有其他染色体异常产前筛查算法的风险评估严重依赖于孕妇年龄，而这在PGS/D患者中并不相关。
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