Smrcek J M, Baschat A A, Germer U, Gloeckner-Hofmann K, Gembruch U
Division of Prenatal Medicine, Department of Obstetrics and Gynaecology, Medical University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Ultrasound Obstet Gynecol. 2001 May;17(5):403-9. doi: 10.1046/j.1469-0705.2001.00384.x.
To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21.
A retrospective case series.
Cases were selected from 79 cases of trisomy 21 diagnosed in our prenatal unit between 1993 and 1999.
All fetuses had a detailed sonographic anatomic survey and biometry. Doppler of the umbilical and middle cerebral arteries, ductus venosus, inferior vena cava and umbilical vein was performed whenever possible. Two-dimensional echocardiography supplemented by color Doppler flow mapping and spectral pulsed wave Doppler was performed in all cases of fetal hydrops. Fetal karyotyping was obtained by amniocentesis, chorionic villus sampling or fetal blood sampling. In the presence of fetal hydrops a cordocentesis was performed for fetal hematology, biochemistry and TORCH serology. In cases with diagnosis of myeloproliferative disorder, peripheral blast cells were characterized by microscopy, cytochemistry and determination of surface markers. All cases with myeloproliferative disorder were stillborn and subsequently had a postmortem examination performed.
During the study period 79 cases of trisomy 21 were diagnosed. Eleven of these had fetal hydrops. Three of these fetuses presented with hepatosplenomegaly and myeloproliferative disorder in the second and third trimesters. In addition, one fetus with sonographic markers of trisomy 21, where karyotyping was unfortunately unsuccessful, presented with hepatosplenomegaly, hydrops and myeloproliferative disorder. In the four fetuses with hepatosplenomegaly and hydrops, serology was negative for congenital infection. The characteristics of blast cells in the peripheral blood smear revealed a myeloproliferative disorder.
Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy, although suggestive of infectious etiology, may be a sign of myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. There is a possibility that a transient myeloproliferative disorder is a more common cause of mid or late-trimester hydrops in cases of trisomy 21 than previously thought. In these hydropic fetuses the prognosis seems to be poor. On the other hand we can speculate that a myeloproliferative disorder and the associated hepatosplenomegaly and/or hydrops may show spontaneous remission or that the transient myeloproliferative disorder may be without any detectable ultrasonographic signs and therefore may be more frequent in utero than realized.
证实妊娠后半期21三体或嵌合型21三体胎儿的胎儿水肿和/或肝脾肿大与骨髓增殖性疾病之间的关系。
一项回顾性病例系列研究。
病例选自1993年至1999年间在我们产前诊断中心确诊的79例21三体病例。
所有胎儿均接受详细的超声解剖学检查和生物测量。尽可能对脐动脉、大脑中动脉、静脉导管、下腔静脉和脐静脉进行多普勒检查。对所有胎儿水肿病例均进行二维超声心动图检查，并辅以彩色多普勒血流图和频谱脉冲波多普勒检查。通过羊膜穿刺术、绒毛取样或胎儿采血进行胎儿核型分析。若出现胎儿水肿，则进行脐静脉穿刺以检测胎儿血液学、生化指标及TORCH血清学指标。对于诊断为骨髓增殖性疾病的病例，通过显微镜检查、细胞化学和表面标志物测定对外周母细胞进行特征分析。所有诊断为骨髓增殖性疾病的病例均为死产，随后进行了尸检。
在研究期间，共诊断出79例21三体病例。其中11例出现胎儿水肿。这些胎儿中有3例在妊娠中期和晚期出现肝脾肿大及骨髓增殖性疾病。此外，1例具有21三体超声标志物但核型分析未成功的胎儿，出现了肝脾肿大、水肿及骨髓增殖性疾病。在4例出现肝脾肿大和水肿的胎儿中，先天性感染血清学检查呈阴性。外周血涂片母细胞特征显示为骨髓增殖性疾病。
妊娠后半期的胎儿水肿和/或肝脾肿大，尽管提示感染性病因，但可能是21三体或嵌合型21三体胎儿骨髓增殖性疾病的一个征象。在21三体病例中，短暂性骨髓增殖性疾病可能是妊娠中期或晚期水肿比之前认为的更常见的原因。在这些水肿胎儿中，预后似乎较差。另一方面，我们可以推测骨髓增殖性疾病及相关的肝脾肿大和/或水肿可能会自发缓解，或者短暂性骨髓增殖性疾病可能没有任何可检测到的超声征象，因此在子宫内可能比我们意识到的更为常见。
