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모체혈액내 태아 유핵적혈구의 분리후PCR과 FISH에 의한 Y 염색체 검출의 임상적 유용성
정재현 ( Jae Hyun Chung ),지관자 ( Kwan Ja Ji ),양순하 ( Soon Ha Yang ),오정미 ( Jung Mi Oh ),노정래 ( Cheong Rae Roh ),문영규 ( Young Kyu Moon ),김승욱 ( Syng Wook Kim ),이제호 ( Je Ho Lee ) 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.12
Background: Fetal cells in maternal circulation offer a potential source of fetal material for non-invasive prenatal diagnosis. The presence of fetal cells in maternal blood can be confirmed by detecting Y-chromosome of male fetus by polymerase chain reaction(PCR) or fluorescence in situ hybridization(FISH). The current investigations, however, have not yet reached the accuracy for clinical application in detecting Y-chromosome by PCR or FISH because of tiny number of fetal cells in maternal blood. Therefore, if PCR and FISH were applied simultaneously on the same materials for detecting Y-chromosome, the diagnostic accuracy would be improved. Objective: The purpose of this study was to determine the clinical applicability of combined use of PCR and FISH in the detection of Y-chromosome from isolated fetal cells in maternal blood. Study Design: Peripheral blood was obtained from 43 pregnant women at 11~20 weeks `gestation. Fetal nucleated red blood cells(nRBCs) were discriminated by centrifugation under triple density gradient and by magnetic-activated cell sorter using CD 45 monoclonal antibody. The samples were resorted using CD 71 and GPA monoclonal antibodies. The PCR and FISH were performed simultaneously for the detection of Y-chromosome in each sample. Results: The diagnostic indices of PCR in the detection of Y-chromosome from fetal nRBC in maternal blood were sensitivity 70%(14/20), specificity 83%(19/23), positive predictive value 78%(14/18), and negative predictive value 76%(19/25). Those of FISH were 85%(17/20), 87%(20/23), 85%(17/20), and 87%(20/23), respectively. When PCR and FISH were concomittently applied for detecting Y-chromosome, sensitivity was 65%(13/20), specificity was 96%(22/23), positive predictive value was 93%(13/14), and negative predictive value was 76%(22/29). When PCR detected Y-chromosome and FISH did not or vice versa, it was interpreted as male. In that case, the sensitivity was 90%(18/20), the specificity was 74%(17/23), the positive predictive value was 75%(18/24), and the negative predictive value was 89%(17/19). Conclusions: When PCR and FISH were applied simultaneously, the specificity and positive predictive value in the detection of Y-chromosome from fetal cells in maternal blood were improved. However, the overall diagnostic indicies were not enough for clinical application as prenatal diagnostic technique.
DNA분석에 기포한 표피박리성 수장족저 각피증 ( Epidermolytic palmoplantar keratoderma ) 의 산전 진단
양순하(Soon Ha Yang),노정래(Cheong Rae Roh),이제호(Je Ho Lee),정재현(Jae Hyun Chung),문종수(Zong Soo Moon),양준모(Jun Mo Yang),김승욱(Syng Wook Kim) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.1
N/A Objective: The purpose of this investigation was to establish the prenatal diagnosis for identifying the risk for epidermolytic palmoplantar keratoderma(EPPK) of a fetus by sequence analysis of fetal genomic DNA from chorionic villi. Methods: Chorionic villus sampling under transvaginal sonography at 12 weeks of gestation from a woman at risk for a child in a EPPK-affected family was perfomed. Polymerase chain reaction amplification of specific allele (PASA) assay was carried out for the detection of mutation(R162W in keratin 9 [K9] gene) previously identified in this family. Direct DNA sequencing analysis of K9 gene was accomplished to confirm the mutation. Results: We had found the point mutation, R162W of K9 gene, in affected family members and confirmed by PASA assay. Affected family members were shown to have PCR products reactive with both the mutant and wildtype specific primers. Because we could not find any expected products after PASA assay with the primers la(+)/KSmt(-) of the fetal DNA, we predicted that the fetus did not inherited the mutant allele and that the fetus could be unaffected. After PASA assay, we analyzed DNA sequences of two family members to confirm the mutation. A C-to-T substitution at bp 545 was detected in the father, instead the fetus did not have any mutant band at that base pair. Conclusion: The PASA assay and direct DNA sequencing analysis of K9 gene through chorionic villi sampling and extraction of genomic DNA had validity to early prenatal diagnosis whether fetus was affected in EPPK or not.
임신중 심부전 및 조기분만진통과 합병된 근긴장성 이영양증 1 예
양순하(Soon Ha Yang),노정래(Cheong Rae Roh),정재현(Jae Hyun Chung),문종수(Zong Soo Moon),문종택(Jong Taek Moon),김병준(B . Joon Kim) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.2
Myotonic dystrophy is an autosomal-dominantly inherited neuromuscular disorder characterized by slowly progressive muscular dystrophy, muscle weakness and myotonia. The clinical features may vary from just cataracts to involvement of multiple organ systems such as various muscles, heart, lung and intestine. During pregnancy and delivery, serious maternal and obstetrical complications may occur. The myotonia is often aggravated during pregnancy and it leads to obstetrical complications such as fetal loss, preterm premature delivery, hydrops, in-utero fetal death, difficulties in fetal expulsion, postpartum hemorrhage and/or anesthetic accidents. The affected neonate may display severe hypotonia, facial displegia and respiratory distress. This report presents a woman with myotonic dystrophy complicated with congestive heart failure and preterm delivery during pregnancy.
만삭산모에서 유도분만의 성공예측지표로서 질식초음파를 이용한 자궁경부 관찰의 유용성
양순하(Soon Ha Yang),오정미(Jung Mi Oh),노정래(Cheong Rae Roh),정재현(Jae Hyun Chung) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.11
N/A Objectives: The purposes of this study were to determine the usefulness of transvaginal ultrasonographic assessment of the uterine cervix and to compare the diagnostic performance of ultrasonographic and digital examination of the cervix in predicting a successful induction of labor. Study design: One hundred-one singleton term pregnancies without ruptured membranes admitted for the labor induction were included in this study. Digital examination and transvaginal ultrasonography of the uterine cervix were performed at the time of admission. Cervical parameters evaluated included cervical length, presence of funneling, funnel length, and funnel width. Labor induction was underwent by prostaglandin E2 (PGE2) vaginal suppository and/or pitocin intravenous infusion. Outcome variable was a successful labor induction within 48 hours after beginning of the induction. Results: The prevalence of induction failure was 10.9% (11/101). Receiver-operator characteristic (ROC) curve and multiple logistic regression analysis indicated a significant relationship between the successful induction of labor and cervical length <3.1 cm. The diagnositic indices of endocervical length was superior to those of Bishop's cervical score in predicting a successful induction of labor. In patients with cervical length <3.1 cm, the labor was induced successfully with fewer tablets of PGE2, less use of pitocin infusion, and shorter induction-delivery interval. Conclusion: Transvaginal ultrasonographical examination of the uterine cervix is more accurate than digital examination of the cervix in the prediction of a successful induction of labor in term gestation.