Darouich Ayham Alhaj, Liehr Thomas, Weise Anja, Schlembach Dietmar, Schleußner Ekkehart, Kiehntopf Michael, Schreyer Isolde
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
Jena University Hospital, Friedrich Schiller University, Placenta-Labor, Department of Obstetrics, Jena, Germany.
J Prenat Med. 2015 Jul-Dec;9(3-4):18-23. doi: 10.11138/jpm/2015.9.3.018.
Alpha-fetoprotein (AFP) concentrations can be determined framing others from invasively acquired amnion fluid (AF-AFP). While the biological role of AFP remains unclear it is well known that AFP-levels can be altered in connection with specific clinical and/or genetic alterations of the fetus.
here a retrospective study based on 3,119 singleton and 56 twin pregnancies is presented. The standard levels of amnion fluid derived alpha-fetoprotein level (AF-AFP) between 12th and 36th weeks of gestation were determined. Additionally, acetylcholinesterase (AChE) test results for 63 cases, ultrasonography results for 32 cases and abnormal karyotypic findings for 100 cases were available for selected cases.
according to the present data the AF-AFP test is reliable and provides expected test results in terms of population studies. However, individual AF-AFP test results can be subject to high individual variations. In this study AF-AFP multiple of medians (MoM) over 1.7 were indicative for neuronal tube defects and/or omphalocele in only 6.3% of the cases, while such AF-AFP values were hints on severe sonographic signs in 62% of the cases. Also, altered AF-AFP concentrations were present in 82% of cytogenetically abnormal cases. Overall, even though predicative value of the AF-AFP-test is matter of discussion it continues to be widely applied in invasive prenatal diagnostics. This study indicates that it only can be applied reliably in combination with other tests like banding cytogenetics, ultrasonography and all embedded in well-established genetic counseling.
甲胎蛋白（AFP）浓度可以通过侵入性获取的羊水（AF-AFP）来测定，以此区别于其他物质。虽然AFP的生物学作用尚不清楚，但众所周知，AFP水平会因胎儿的特定临床和/或基因改变而发生变化。
本文呈现了一项基于3119例单胎妊娠和56例双胎妊娠的回顾性研究。测定了妊娠第12至36周羊水来源的甲胎蛋白水平（AF-AFP）的标准值。此外，还提供了63例的乙酰胆碱酯酶（AChE）检测结果、32例的超声检查结果以及100例选定病例的异常核型检查结果。
根据目前的数据，AF-AFP检测是可靠的，并且在人群研究方面能提供预期的检测结果。然而，个体的AF-AFP检测结果可能存在很大的个体差异。在本研究中，AF-AFP中位数倍数（MoM）超过1.7仅在6.3%的病例中提示神经管缺陷和/或脐膨出，而在62%的病例中，这样的AF-AFP值提示存在严重的超声体征。此外，82%的细胞遗传学异常病例中AF-AFP浓度也发生了改变。总体而言，尽管AF-AFP检测的预测价值存在争议，但它在侵入性产前诊断中仍被广泛应用。本研究表明，只有将其与其他检测方法（如染色体显带细胞遗传学、超声检查）相结合，并纳入完善的遗传咨询体系，才能可靠地应用。
