Chair and Department of Laboratory Diagnostics, Poznan University of Medical Sciences, Poznan, Poland.
Department of Obstetrics and Women's Health, Chair of Gynaecology, Obstetrics and Gynaecological Oncology, Poznan University of Medical Sciences, Poznan, Poland.
Ginekol Pol. 2020;91(12):748-754. doi: 10.5603/GP.a2020.0126.
The aim of the study was to evaluate the significance of the maternal blood level of pregnancy-associated plasma protein A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (β-hCG), to estimate the risk of fetal trisomy 18 and their correlation with the assessment of nuchal translucency (NT) during the first prenatal testing.
Examinations of 93 pregnant women between 11 and 13+6 weeks of pregnancy were conducted, which included determination of β-hCG and PAPP-A concentrations in the maternal serum and ultrasound assessment of fetal nuchal translucency. Concentrations of biochemical parameters were expressed as multiples of median (MoM) for the appropriate gestational age. The risk assessment of trisomy 18 was analyzed using Astraia software. Pregnant women with a high (≥ 1:300) risk of trisomy 18 were offered a genetic amniocentesis with an examination of fetal karyotype. Twenty cases were healthy and 23 with trisomy 18.
PAPP-A and β-hCG MoM values < 0.3 were found in 61% cases of fetal trisomy 18. In 26% of cases, PAPP-A and β-hCG MoM values < 0.2 were NT-independent risk factors for trisomy 18. There were no significant differences between groups with normal fetal karyotype (40%) and trisomy 18 (35%) in PAPP-A and β-hCG MoM 0.2-0.5 range.
Maternal free β-hCG MoM was found to change parallelly to fetal NT widening in case of trisomy 18 diagnosis. Maternal β-hCG and PAPP-A MoM results presented less then 0.2 might be used independently of NT widening in fetus for trisomy 18 risk evaluation. Above 0.2 for PAPP-A and β-hCG MoMs, fetal NT measurement was an requirment.
本研究旨在评估母体血妊娠相关血浆蛋白 A（PAPP-A）和人绒毛膜促性腺激素游离β亚基（β-hCG）水平的意义，以评估胎儿三体 18 的风险，并与首次产前检查时的颈项透明层（NT）评估相关联。
对 93 名 11-13+6 孕周的孕妇进行了检查，包括测定母血清中β-hCG 和 PAPP-A 浓度，并对胎儿颈项透明层进行超声评估。生化参数浓度用适当的孕周中位数倍数（MoM）表示。使用 Astraia 软件分析三体 18 的风险。对三体 18 风险≥1:300 的孕妇进行了羊水穿刺遗传检查，以检查胎儿染色体核型。20 例孕妇健康，23 例为三体 18。
胎儿三体 18 中 61%存在 PAPP-A 和β-hCG MoM<0.3。26%的病例中，PAPP-A 和β-hCG MoM<0.2 是与 NT 无关的三体 18 风险因素。在胎儿染色体核型正常（40%）和三体 18（35%）的两组之间，PAPP-A 和β-hCG MoM 0.2-0.5 范围内没有显著差异。
在诊断三体 18 时，母体游离β-hCG MoM 与胎儿 NT 增宽平行变化。母体β-hCG 和 PAPP-A MoM 值小于 0.2 可能与胎儿 NT 增宽无关，可用于评估三体 18 的风险。对于 PAPP-A 和β-hCG MoM 值大于 0.2，需要进行胎儿 NT 测量。
