PDF(Pubmed)
Abstract：
OBJECTIVE: To assess the primary sex ratio (males-to-females at time of conception) in blastocysts from consanguine couples undergoing IVF/ICSI treatments and its correlation with chromosomal constitution.
METHODS: A total of 5135 blastocysts were analyzed by preimplantation-genetic testing for aneuploidy (PGT-A) with next-generation sequencing (NGS) from November 2016 to December 2020. From those, a total of 1138 blastocysts were from consanguine couples (CS) and 3997 from non-consanguine couples (NCS). Only blastocysts presenting normal sex chromosome constitution with or without autosomal aneuploidies were included. Primary sex ratio (PSR) of biopsied blastocysts was compared between CS and NCS couples.
RESULTS: Expanded blastocysts derived from CS had 47.7% XY versus 52.3% XX constitutions, presenting a PSR of 0.91. In NCS, 48.9% of expanded blastocysts were XY and 51.2% XX, with a less pronounced PSR of 0.95. When stratifying embryos by ploidy, euploid embryos from CS had the lowest PSR (0.87) with 46.6% XY versus 53.4% XX blastocysts (OR 0.89, 95% CI 0.70-1.14; NS), but it did not achieve statistical significance. The lower PSR seemed rather related to euploid embryos from first-degree cousins (PSR = 0.80 versus 0.98 in second-degree cousins, NS). Euploid embryos from NCS presented a PSR of 0.96, with 49.1% XY versus 50.9% XX blastocysts (OR 0.98, 95% CI 0.79-1.22; NS). Significant differences in prevalence of euploidy of specific chromosomes were encountered between CS and NCS.
CONCLUSIONS: The primary sex ratio was generally similar in expanded blastocysts from consanguine and non-consanguine couples, with a slight decrease in primary sex ratio of euploid blastocysts from consanguine couples.
METHODS: A total of 5135 blastocysts were analyzed by preimplantation-genetic testing for aneuploidy (PGT-A) with next-generation sequencing (NGS) from November 2016 to December 2020. From those, a total of 1138 blastocysts were from consanguine couples (CS) and 3997 from non-consanguine couples (NCS). Only blastocysts presenting normal sex chromosome constitution with or without autosomal aneuploidies were included. Primary sex ratio (PSR) of biopsied blastocysts was compared between CS and NCS couples.
RESULTS: Expanded blastocysts derived from CS had 47.7% XY versus 52.3% XX constitutions, presenting a PSR of 0.91. In NCS, 48.9% of expanded blastocysts were XY and 51.2% XX, with a less pronounced PSR of 0.95. When stratifying embryos by ploidy, euploid embryos from CS had the lowest PSR (0.87) with 46.6% XY versus 53.4% XX blastocysts (OR 0.89, 95% CI 0.70-1.14; NS), but it did not achieve statistical significance. The lower PSR seemed rather related to euploid embryos from first-degree cousins (PSR = 0.80 versus 0.98 in second-degree cousins, NS). Euploid embryos from NCS presented a PSR of 0.96, with 49.1% XY versus 50.9% XX blastocysts (OR 0.98, 95% CI 0.79-1.22; NS). Significant differences in prevalence of euploidy of specific chromosomes were encountered between CS and NCS.
CONCLUSIONS: The primary sex ratio was generally similar in expanded blastocysts from consanguine and non-consanguine couples, with a slight decrease in primary sex ratio of euploid blastocysts from consanguine couples.
摘要：
目的：评估接受IVF/ICSI治疗的同系夫妇的胚泡中的原发性性别比（受孕时的男女比例）及其与染色体构成的相关性。
方法：从2016年11月至2020年12月，通过下一代测序（NGS）的非整倍性植入前遗传学测试（PGT-A）分析了总共5135个胚泡。从那些,共有1138个囊胚来自同系夫妇（CS），3997个来自非同系夫妇（NCS）。仅包括具有或不具有常染色体非整倍体的正常性染色体构成的胚泡。比较了CS和NCS夫妇之间活检胚泡的原发性性别比（PSR）。
结果：来自CS的扩大胚泡具有47.7％XY和52.3％XX组成，PSR为0.91。在NCS中，48.9%的扩大囊胚为XY,51.2%为XX,PSR不那么明显，为0.95。当通过倍性对胚胎进行分层时，CS的整倍体胚胎的PSR最低（0.87），XY分别为46.6％和53.4％XX胚泡（OR0.89，95％CI0.70-1.14；NS），但没有达到统计学意义。较低的PSR似乎与一级表亲的整倍体胚胎有关（二级表亲的PSR=0.80对0.98，NS).来自NCS的Euploid胚胎的PSR为0.96，XY为49.1％，XX囊胚为50.9％（OR0.98，95％CI0.79-1.22；NS）。CS和NCS之间特定染色体的整倍体患病率存在显着差异。
结论：在来自亲缘和非亲缘夫妇的扩大胚泡中，原发性性别比通常相似，同系夫妇的整倍体胚泡的原发性性别比略有下降。
方法：从2016年11月至2020年12月，通过下一代测序（NGS）的非整倍性植入前遗传学测试（PGT-A）分析了总共5135个胚泡。从那些,共有1138个囊胚来自同系夫妇（CS），3997个来自非同系夫妇（NCS）。仅包括具有或不具有常染色体非整倍体的正常性染色体构成的胚泡。比较了CS和NCS夫妇之间活检胚泡的原发性性别比（PSR）。
结果：来自CS的扩大胚泡具有47.7％XY和52.3％XX组成，PSR为0.91。在NCS中，48.9%的扩大囊胚为XY,51.2%为XX,PSR不那么明显，为0.95。当通过倍性对胚胎进行分层时，CS的整倍体胚胎的PSR最低（0.87），XY分别为46.6％和53.4％XX胚泡（OR0.89，95％CI0.70-1.14；NS），但没有达到统计学意义。较低的PSR似乎与一级表亲的整倍体胚胎有关（二级表亲的PSR=0.80对0.98，NS).来自NCS的Euploid胚胎的PSR为0.96，XY为49.1％，XX囊胚为50.9％（OR0.98，95％CI0.79-1.22；NS）。CS和NCS之间特定染色体的整倍体患病率存在显着差异。
结论：在来自亲缘和非亲缘夫妇的扩大胚泡中，原发性性别比通常相似，同系夫妇的整倍体胚泡的原发性性别比略有下降。
