Krishnamoorthy A, Gowen L C, Boll K E, Knuppel R A, Sciorra L J
Department of Obstetrics and Gynecology, UMDNJ-Robert Wood Johnson Medical School/St. Peter's Medical Center, New Brunswick, USA.
J Perinatol. 1995 Jan-Feb;15(1):47-50.
Confined placental mosaicism is found in a higher percentage of cases of unexplained intrauterine growth retardation (IUGR) than in those of normal pregnancies. To test this hypothesis of cytogenetically abnormal placental cells associated with IUGR, we identified patients in whose fetuses IUGR was suspected during the antepartum period by clinical and serial ultrasonography and Doppler examinations and confirmed by immediate neonatal physical examination. At birth placental biopsy samples and cord blood were collected and coded. Similar specimens were obtained from non-IUGR pregnancies during that period to avoid bias in evaluation of results. These specimens were processed for standard cytogenetic studies and fluorescent in situ hybridization (FISH) of interphase cells to detect any chromosomal mosaicism in a double-blind fashion. Results were obtained on 26 IUGR placentas. Of these placentas, 22 were cytogenetically normal on standard karyotype analysis and interphase fluorescent studies. Four placentas were shown to have some chromosomal aneuploidy: one with the same chromosome anomaly in multiple cells and the other with multiple single-cell aneuploidy. Of these placentas, cytogenetic and FISH studies showed one to have a monosomy 21 cell line, two placentas showed mosaicism on karyotyping, which was not confirmed by FISH, and one placenta had a suggested chromosomal instability. All placentas had normal anatomy regardless of the chromosome findings and no chromosome anomalies were seen in any of the infants. Non-IUGR placentas showed no chromosomal-confined mosaicism and all had normal findings on placental pathologic examination.
与正常妊娠相比，不明原因的宫内生长受限（IUGR）病例中局限性胎盘嵌合体的发生率更高。为了验证与IUGR相关的细胞遗传学异常胎盘细胞这一假说，我们通过临床、系列超声检查和多普勒检查在产前怀疑胎儿患有IUGR，并通过新生儿即时体格检查予以确诊，从而确定了这些患者。出生时采集胎盘活检样本和脐带血并进行编码。在同一时期从非IUGR妊娠中获取类似样本，以避免结果评估中的偏差。对这些样本进行标准细胞遗传学研究和间期细胞荧光原位杂交（FISH），以双盲方式检测任何染色体嵌合体。获得了26个IUGR胎盘的结果。在这些胎盘中，22个在标准核型分析和间期荧光研究中细胞遗传学正常。4个胎盘显示有一些染色体非整倍体：1个在多个细胞中存在相同的染色体异常，另1个有多个单细胞非整倍体。在这些胎盘中，细胞遗传学和FISH研究显示1个有21号染色体单体细胞系，2个胎盘在核型分析时显示嵌合体，但FISH未证实，1个胎盘提示有染色体不稳定性。无论染色体检查结果如何，所有胎盘的解剖结构均正常，且在任何婴儿中均未发现染色体异常。非IUGR胎盘未显示染色体局限性嵌合体，且在胎盘病理检查中均有正常发现。
