Gillen-Goldstein Jonathan, Roque Henry, Young Bruce K
Division of Maternal-Fetal Medicine, New York University Medical Center, New York, USA.
J Perinat Med. 2002;30(2):132-6. doi: 10.1515/JPM.2002.016.
By determining the early patterns of steroidogenesis in the most common aneuploidies, we have shown that there are differences between aneuploid and euploid pregnancy steroidogenesis patterns. We hypothesize that there are differences in steroidogenesis between specific trisomies, as well.
The records of all patients with a cytogenetic diagnosis of aneuploidy were studied. Serial data on progesterone(P), estradiol(E2) and beta-HCG(bHCG) was collected in the first trimester of aneuploid pregnancies. A matched group of normals at the same gestational ages was used as a control group. The specific trisomies of the above group were catalogued.
31 aneuploid pregnancies were reviewed for progesterone, estradiol and beta-HCG in the first trimester. Data was available for three or more patients with trisomy 16, 18, 21 and 22. Serial measurements between 5 and 10 weeks of pregnancy were obtained for P, E2, and bHCG. Gestational age was determined by LMP and serial sonograms. The progesterone, estradiol and beta-HCG levels were evaluated by calculating the rates of change between 5 and 10 weeks, rather than threshold values. The natural log of the values was used to plot serial data and reduce scatter due to the large natural variation in values between patients. The rates of change of P, E2 and b-HCG in the trisomic pregnancy groups were compared to matched normal pregnancies. The slopes of the curves for the trisomies and euploid pregnancies were calculated and compared. We determined that the rate of change of HCG for each of the trisomies was no different from euploid pregnancies, which is consistent with earlier data. In examining estradiol, trisomy 22 did not have a statistically different pattern of steroidogenesis, where trisomies 16, 18 and 21 were different than euploid (p < 0.05). With progesterone, trisomies 16, 18 and 22 had statistically different rates of change (p < 0.05), however trisomy 21 did not.
As we have shown, in pregnancies with aneuploidy, there is a different pattern of steroidogenesis from euploid pregnancies. The difference is detectable in the first trimester by serial measurements of P and E2. In determining steroidogenesis in trisomies 16, 18, 21, and 22, we demonstrate that there is a difference in progesterone and estradiol levels over 5 to 10 weeks among the trisomies that can assist in the diagnosing of abnormal pregnancies in the first trimester. Furthermore, by looking at the rates of change of the individual steroids, the specific aneuploidy may be suspected. A large prospective study may reveal the clinical utility of these observations for early prenatal diagnosis of aneuploidy or probable spontaneous abortion.
通过确定最常见非整倍体中类固醇生成的早期模式，我们发现非整倍体妊娠和整倍体妊娠的类固醇生成模式存在差异。我们还假设特定三体之间的类固醇生成也存在差异。
研究所有经细胞遗传学诊断为非整倍体的患者记录。收集非整倍体妊娠孕早期孕酮（P）、雌二醇（E2）和β-人绒毛膜促性腺激素（β-HCG）的系列数据。选取相同孕周的匹配正常人群作为对照组。对上述组别的特定三体进行分类。
回顾了31例非整倍体妊娠孕早期的孕酮、雌二醇和β-HCG数据。有16、18、21和22三体的3名或更多患者的数据可用。在妊娠5至10周期间获取了P、E2和β-HCG的系列测量值。孕周通过末次月经日期和系列超声检查确定。通过计算5至10周之间的变化率而非阈值来评估孕酮、雌二醇和β-HCG水平。使用这些值的自然对数来绘制系列数据，并减少因患者之间值的自然差异较大而产生的散点。将三体妊娠组中P、E2和β-HCG的变化率与匹配的正常妊娠进行比较。计算并比较三体和整倍体妊娠曲线的斜率。我们确定每个三体的HCG变化率与整倍体妊娠无差异，这与早期数据一致。在检查雌二醇时，22三体的类固醇生成模式在统计学上无差异，而16、18和21三体与整倍体不同（p<0.05）。对于孕酮，16、18和22三体的变化率在统计学上有差异（p<0.05），然而21三体没有。
如我们所示，在非整倍体妊娠中，类固醇生成模式与整倍体妊娠不同。通过在孕早期对P和E2进行系列测量可检测到这种差异。在确定16、18、21和22三体的类固醇生成时，我们证明在5至10周内三体之间孕酮和雌二醇水平存在差异，这有助于在孕早期诊断异常妊娠。此外，通过观察个体类固醇的变化率，可能怀疑存在特定的非整倍体。一项大型前瞻性研究可能会揭示这些观察结果在非整倍体早期产前诊断或可能的自然流产方面的临床实用性。
