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Objective@#To investigate the value of short tandem repeat (STR) genotyping in the diagnostic workup of molar and non-molar gestations with correlation of histological characteristics.@*Methods@#Six hundred and fifty-six cases were selected based on clinically suspected hydropic abortion and/or molar pregnancy from July 2015 to September 2017 at Beijing Obstetrics and Gynecology Hospital. DNA was extracted from dissected chorionic villi and paired maternal endometrial FFPE tissue samples by Simplex OUP™ FFPE DNA Tissue Kit. STR genotyping was performed by PowerPlex 16 HS system.@*Results@#DNA genotyping was informative in 649 of 656 cases, leading to identification of 215 hydatidiform mole gestations and 434 non-molar gestations. Most of non-molar gestations (375 cases, 86.4%) were diploid hydropic abortion. Various trisomy syndromes were found (53 cases, 12.2%), including trisomy 2, 3, 4, 7, 8, 13, 16 and 21. Only 2(0.5%) digynic triploid gestations were detected. Moreover, 4 cases (0.9%) of uniparental disomies (homologous or heterologous) were found. There were 196 cases with histologic diagnostic suspicious of hydatidiform moles were accurate sub-classified. Among them, 59 cases hydatidiform moles were under-diagnosed as diploid hydropic abortions, and 28 cases diploid hydropic abortions were over-diagnosed as hydatidiform moles.Compared with partial moles(PHM), there were no specific histomorphological features between the various types of non-molar gestations and partial moles for definitive diagnostic separation. There was no significant difference in the expression of p57kip2 among PHM, trisomy and diploid hydropic abortions group (P=0.247).@*Conclusions@#STR genotyping can distinguish non-molar gestations from early hydatidiform moles, and efficiently avoid misdiagnosis based only on histological evaluation. Therefore, using STR genotyping, not only can the overdiagnosis of non-molar pregnancy be avoided, but also individualized management can be offered to patients including monitoring of serum hCG.
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Objective To investigate the relationship between the expression of imprinted gene CDKN1C in placenta and the birth weight of neonates.Methods Twenty-nine term small for gestational age (SGA) neonates admitted to Peking University Third Hospital from January 1,2014 to December 31,2014 were recruited,and 29 appropriate for gestational age (AGA) neonates with a difference of not more than one week in gestational age served as controls.Fresh placental tissue was collected and the expression of imprinted gene CDKN1C mRNA in the placenta were detected by real-time fluorescence quantitative-polymerase chain reaction,and its protein expression was estimated by Western-blot.Chi-square test,independent-sample t test,Pearson's correlation analysis were used for statistical analysis.Results The CDKN1C mRNA expression level in SGA was significantly higher than that in AGA (0.133± 0.059 vs 0.100±0.046,t=2.401,P=0.020),so was the CDKN1C protein expression (0.280±0.043 vs 0.190±0.041,t=8.410,P=0.000).The CDKN1C mRNA expression levels were negatively correlated with birth weight in both groups (SGA group,r=-0.587,P=0.001;AGA group,r=-0.569,P=0.001),and the correlation was slightly stronger in SGA (r2=0.344) than in AGA (r2=0.324).The CDKN1C protein expression levels of the two groups were negatively correlated with birth weight (SGA group,r=-0.579,P=0.001;AGA group,r=-0.497,P=0.006),the correlation being stronger in SGA group (r2=0.335) than in AGA group (r2=0.247).The CDKN1C mRNA and protein expression levels of the two groups were negatively correlated with birth weight for gender,especially in males [mRNA:r2=0.293(male)vs r2=0.185(female);protein:r2=0.730 (male) vs r2=0.601(female)].Neither CDKN1C mRNA nor protein expression level was correlated to the placenta weight (mRNA:SGA group,r=0.119,P=0.540;AGA group,r=-0.069,P=0.722;protein:SGA group,r=0.126,P=0.515;AGA group,r=-0.247,P=0.196).Conclusions The expressions of CDKN1C mRNA and protein may be related to birth weight of term SGA neonates,especially in male infants.
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Objective To investigate the prognostic value of CD44V6, MMP-9, p57kip2 and hCG in diagnosis differential diagnosis and malignant transformation of hydatidiform mole. Methods The expressions of CD44V6 MMP-9 and p57kip2 was detected by SP method and the serum hCG was detected with CLIA method in 55 cases of hydatidiform mole, 20 cases of abortion villi and 10 cases of normal villi, and the value of CD44V6, MMP-9, p57kip2 and hCG in diagnosis differential diagnosis and malignant transformation of hydatidiform mole was analyzed. Results There were 9 cases malignant transforming hydatidiform mole and 44 cases of non-malignant transforming hydatidiform mole(20 cases of complete hydatidiform mole, 26 cases of partial hydatidiform mole). The expression of CD44V6 MMP-9 and p57kip2 of malignant transforming mole was significantly higher than that of non-malignant transforming group (77.8 % vs 30.4 %, 77.8 % vs 34.8 %, 11.1 % vs 58.7 %) (P <0.05) and the expression difference of p57kip2 in complete mole and partial mole group (5.0 % vs 100.0 %) was statistically significant (P <0.05). HCG remained positive in 4 cases of hydatidiform mole and dropping and then rised in 5 cases. The sensitivity of p57kip2 in the diagnosis of partial hydatidiform mole was 100.0 %, the specificity was 95.0 %, the negative prediction was 100.0 %. The sensitivity of CD44V6 in the diagnosis of malignant hydatidiform mole was 77.8 %, specificity was 69.6 %, negative prediction was 94.1 %;The sensitivity of MMP-9 was 77.8 %, specificity was 65.2 %, negative prediction was 93.8 %. The sensitivity of the two combined detection (CD44V6 and MMP-9) was 88.9 %, negative prediction was 96.3 %. The sensitivity of combined detection (CD44V6, MMP-9 and hCG) was higher than any of them. Conclusion p57kip2 is an important marker in differential diagnosis of hydatidiform mole. CD44V6, MMP-9 play important roles in the process of transformation of hydatidiform mole. The combined detection of CD44V6, MMP-9, p57kip2 and hCG can help to diagnosis and differential diagnosis and predict biological behaviors and prognosis of hydatidiform mole.