새로 발생한 13 q32.2 → qter 결손과 동반된 13 번 환상염색체 환아 1 예

황성진(Seong Jin Hwang),이지현(Jee Hyun Lee),박인양(In Yang Park),문희봉(Hee Bong Moon),오준환(Joon Hwan Oh),이귀세라(Gui Se Ra Lee),이종승(Chong Seung Yi),신종철(Jong Chul Shin),김수평(Soo Pyung Kim) 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.2

We report a case of ring chromosome 13 with a distal deletion of 13q32.2→qter observed in a fetus who was referred to our institution at term due to severe growth restriction and multiple congenital malformations on ultrasonographic examination. This boy was born by vaginal delivery at 39 weeks in gestation. His weight, head circumference and height were less than the 3 percentile of gestational age. Apgar score was 7 at 1 minute and 9 at 5 minutes. He showed microcephaly, large forehead, low set ears, hypertelorism, flat nasal bridge, and micrognathia. The genitalia was ambiguous, showing severe hypoplasia of the penis. The anus was ectopic, displaced anteriorly from its normal position but with a normal opening and function. Neurologic examination was normal. Echocardiogram done at 2 weeks of life showed a persistent foramen ovale and a ventriculoseptal defect (type II) with increased pulmonary hypertension. MRI examination of the brain showed poorly demarcating corpus callosum suspecting agenesis of corpus callosum. Also, cerebellar vermis was small and hypoplastic, mimicking a variant form of Dandy-Walker malformation. MRI of the pelvis showed a tubular structure in pelvic cavity, suspicious of uterine remnant, between urinary bladder and rectum, and a inguinal hernia was noted in the left side. In the abdominal cavity enlarged adrenal glands were noted, and hormonal study showed elevated 17-α-OH-progesterone (168.9 ng/ml) with normal 17-KS and 17-OHCS levels. Gastrointestinal and urogenital system were otherwise normal. Cytogenetic analysis of the parents were both normal but the newborn showed 46, XY, r(13), de novo, with deletion points q32.2→qter. Our findings are in line with previous reports about chromosome 13 deletions, in which loss of the critical point leads to major malformations like brain anomalies and ambiguous genitalia.

위양성 양수 Acetylcholinesterase 를 보인 정상 임신 1 예

김연희(Youn Hee Kim),이지현(Jee Hyun Lee),문희봉(Hee Bong Moon),오준환(Jun Hwan Oh),이귀세라(Gui Se Ra Lee),이종승(Chong Seung Yi),신종철(Jong Chul Shin),김수평(Soo Pyung Kim) 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.2

Maternal serum α-fetoprotein (AFP) has been used for a long time for the prenatal diagnosis of neural tube defects in women at midtrimester of gestation. But AFP is elevated not only in cases of neural tube defects, but also in fetus with congenital nephrosis, abdominal wall defects, fetal demise, low birth weight or simply erroneously calculated gestational age. So, when maternal serum AFP is increased, gestational age of the fetus must be re-evaluated and targeted ultrasonographic evaluation is indicated to rule out neural tube defects. If NTDs are suspected or ultrasound is non-diagnostic, amniotic fluid AFP are measured and when AF-AFP is elevated, the presence or absence of acetylcholinesterase should be evaluated. The detection rate of open neural tube defects using amniotic acetylcholiesterase is reported to be as high as 96 to 99% with a 0.06% and 0.14% of false positive rate in amniotic fluids non-contaminated and contaminated by blood, respectively. We report a case with elevated mid-trimester MS-AFP, AF-AFP and positive amniotic acetylcholin- esterase, but in which repeated sonographic findings were normal, and result in delivery of a heathy baby without anomalies.

성별에 따른 태아 심장 박동 분석

이영(Young Lee),백은정(Eun Jeong Baik),신종철(Jong Chul Shin),정대영(Dae Young Chung),김수평(Soo Pyung Kim),김창이(Chang Yee Kim),문희봉(Hee Bong Moon),이종승(Chong Seung Yi) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.1

목적: 태아 심박동(fetal heart rate; FHR)은 자율신경계의 조절로 나타나는 현상으로 정상 심박동은 자체의 주기성, 교감 신경 또는 미주 신경 및 부교감 신경으로부터 영향을 받는다. 자율신경 하에 조절되는 심장박동은 성인의 경우 나이 성별에 따른 차이가 있으며, 성별에 따른 자율신경의 생리 작용이 다르다는 것을 알 수 있다. 이에 저자들은 태아 성별에 따른 임상적 여러 변수들 그리고 태아 심박동과 차이를 연구하였다. 연구 방법: 가톨릭 의과대학 산부인과학 교실에 산전 진찰 및 분만을 위해 내원한 산모 중 전자식 태아감시 장치를 시행하였고, 본원에서 분만하여 신생아 임상 소견을 알 수 있었던 317명의 667개의 태아 심박동 자료를 대상으로 하여, 기초 태아 심박동수, 태아 심박동 증가, 태아 심박동 감소, Percent acceleration time(PAT) 및 Percent deceleration time(PDT)를 계산하였고, 변이도로 표준 편차, Mean minute range(MMR)의 장기변이도(LTV) 및 단기변이도(STV)를 계산하였다. 결과: 분석 결과 남아 분만군과 여아분만군의 비교에서 기초 태아 심박동수 137.64±13.68 bpm, 140.51±12.43bpm(P=0.007), PAT는 6.10±4.00bpm, 4.90±3.34bpm(P=0.001), 그리고 PDT는 7.50±8.70bpm, 6.18±7.70bpm(P=0.039)으로 유의한 차이가 있었으나, 표준 편차는 8.84±10.11bpm, 8.11±3.56bpm, LTV는 80.38±62.79msec과73.65±54.60msec, STV는 14.06±9.79msec과 13.33±12.32msec로 차이가 없었다. 결론: 위의 결과로 남아와 여아의 태아 심박동은 차이가 있으며, 이는 발생 시기부터의 부교감 신경과 교감 신경의 발달 차이로 인한 심장 및 체강의 연결계의 차이가 임신 기간 중에 발생한는 것이 원인으로 사료 된다. Objectives: The purpose of this study is to analyze the previously unreported effect of fetal sex on the fetal heart rate and to measure its magnitude in relation to the effects of other independent clinical variables. Methods: Three hundred and seventeen pregnant women who were able to provide electronic fetal heart rate monitoring were evaluated. On the basis of fetal sex after birth, 167 pregnant women who delivered male neonate were for males group and 146 examples who delivered female neonate were for female group. We analyzed fetal heart rate data using the Catholic Computer Assisted Obstetric Diagnosis System(CCAOD). Results: Female fetuses had significantly faster basal heart rate(140.51±12.43bpm) than male fetuses(137.64±13.68 bpm).(P=0.007) Percent acceleration time(PAT) increased significantly for males(6.10±4.00bpm), comparing to females(4.90±3.34bpm).(P=0.001) Also percent deceleration time(PDT) was significantly higher in male fetuses(7.50±8.70bpm) than female fetuses(6.18±7.70bpm).(P=0.039) But there was no differences in standard deviation(SD)(8.84±10.11bpm, 8.11±3.56bpm), long term variation(LTV)(80.38±62.79msec, 73.65±54.60msec), and short term variation(STV)(14.06±9.79msec, 13.33±12.32msec) between male and female fetuses. Conclusion: The fetal heart rate of female fetuses differ from that of male fetuses. Computerized linear analysis and nonlinear analysis of antepartum fetal heart rate will need to take into account the multiple factors that influence the fetal heart rate to identify precisely which pattern predict clinical outcome.

상완의 형성 부전을 동반한 Edward 증후군 1 예

주하경(Ha Kyong Joo),박윤희(Yoon Hee Park),이지현(Jee Hyun Lee),문희봉(Hee Bong Moon),김사진(Sa Jin Kim),이종승(Chong Seung Yi),신종철(Jong Chul Shin),김수평(Soo Pyung Kim) 대한산부인과학회 2001 Obstetrics & Gynecology Science Vol.44 No.10

Trisomy 18 is the second most common chromosomal anomaly that reach to live birth after Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels using total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol (uE3), or free beta hCG with AFP, but the serum screening has only 50-60% detection rate with a 1-2% of false positive rate. So to cover the limitations that serum marker has, detailed ultrasound examination is also necessary and sensitivities of 65-70% were reported. We report a case of trisomy 18 fetus in which second trimester triple markers of maternal serum was normal, but by detailed ultrasound examination, unilateral radius aplasia was diagnosed cytogenetic study confirmed the fetus as trisomy 18.

간세포 성장인자가 HT 세포주에서 c - met 의 발현과 침투성에 미치는 영향

신종철(Jong Chul Shin),이지현(Jee Hyun Lee),양동은(Dong Eun Yang),오민정(Min Jeong Oh),문희봉(Hee Bong Moon),이영(Young Lee),김사진(Sa Jin Kim),이종승(Chong Seung Yi),김수평(Soo Pyung Kim) 대한산부인과학회 2001 Obstetrics & Gynecology Science Vol.44 No.8

N/A Objective : To evaluate the invasive capacity of trophoblastic cells when treated with HGF, and see whether HGF induces c-met expression in vitro. Methods : HT cell line was treated with recombinant HGF (rHGF) at different concentrations (0, 10, 50 and 100 ng/mL) and cultured for 24 hours. To evaluate according different time of culture, HT cell line was pre-treated with 50 ng/mL rHGF and cultured for 24, 36, 48 and 72 hours. We analyzed the expression of c-met mRNA using reverse transcriptase-polymerase chain reaction and the expression of c-met protein using western blot in each samples. We also observed cellular invasion capacity through the invasion assay under a microscope and confirmed 72 kDa gelatinase and 92 kDa gelatinase expression patterns by zymography assay. Results : The expressions of c-met mRNA and protein were increased in all concentrations of rHGF, compared with that of normal control although it was not in dose-dependent fashion. In invasion assay, the number of invaded HT cells were increased in dose-dependent fashion, compared with that of normal control. In zymography ssay, the expression of 72 kDa gelatinase was increased in dose-dependent fashion, compared with the control. However, 92 kDa eglatinase was not detected in any studied group. Conclusion : These results suggests that HGF might be related to upregulation of trophoblast cell invasiveness by activation of c-met and subsequent induction of 72 kDa gelatinase.

일측 에드워드 증후군을 동반한 쌍태 임신 1예

이동현,신종철,이지현,김수평,문희봉,김사진,이종승 대한산부인과학회 2001 Obstetrics & Gynecology Science Vol.44 No.9

Chromosomal anomaly is common in twin pregnancies and when it is complicated with discordancy of fetal chromosomal trisomy, optimal management is difficult to decide. Genetic counseling is necessary and delicate management is required to prevent complications like preterm birth of the normal fetus. Although Edward syndrome the second most common trisomy that reaches to live birth after Down syndrome, its loss rate after second trimester reaches to almost 86% resulting in fetal death in utero, and 90% of the few who survive to term die in the first year of life. When twin pregnancy is discordant for Edward syndrome, fetal death in utero of the anomalous baby occurs frequently. One fetal death in twin pregnancy, reaching the third trimester may increase the risk of mortality and morbidity to both surviving fetus and mother. We present a case of twin pregnancy discordant for trisomy 18 that close follow up result in the delivery of a full term healthy boy, although fetal death in utero occurred in trisomy fetus at 34 weeks in gestation with literatures.

일측 무뇌증을 동반한 쌍태 임신 1예

정미영,이지현,박인양,권인,문희봉,이종승,신종철,나종구,김수평 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.4

일반적으로 출산 신생아의 2-3%에서 선천성 기형을 동반하나 그 원인은 매우 다양하여 원인 규명이 어려우며 단태아보다 쌍태아 임신에서 높은 빈도로 발생하므로 임신 유지에 여러 가지를 고려하여야 한다. 쌍태임신의 일측 태아에서 기형이 발생하는 경우 임신의 지속을 위한 명확한 치료 지침은 아직 확립되지 않았지만 먼저 동반된 염색체 이상을 조기에 발견하기 위한 선별 검사가 필요하고 염색체 이상의 위험성이 높으면 융모막 생검이나 양수천자 혹은 제대천자 등의 검사를 하여야 한다. 본원 산부인과에서는 무뇌아를 동반한 쌍태 임신에서 염색체 검사 결과 모두 정상이었으며 유전상담을 통해 정상아의 폐성숙이 완성될 때까지 임신을 유지하기로 하였으나, 지속적인 양수과다증으로 인하여 조기진통이 유발되어 간헐적인 양수감압술을 지속하며 임신을 유지하다가 임신 29주에 조기양막 파수가 발생하여 제왕절개 분만을 시행한 1예를 경험하였기에 간단한 문헌 고찰과 함께 보고하는 바이다. Congenital anomalies occur in 2-3% of neonates but this incidence increases in multiple pregnancies, especially when fetuses are monozygotic. when pregnancies are affected with one anomalous fetus combined to a normal one, the proper management and counseling is difficult. We experienced a twin pregnancy in which one anencephalic fetus was combined to a normal one. Karyotype analysis was normal in both fetus. After close counseling we decided to continue the pregnancy. Intermittent amnioreduction was done for persistent polyhydramnios. At 29 weeks of gestation membrane was ruptured prematurely and we delivered by cesarean section due to breech-cephalic presentation. The birth weight of the normal and anencephalic fetuses were 1070 gm and 1050 gm, respectively. The anencephalic fetus died immediately after birth but the healthy one showed good crying and movement and its Apgar score was 6 in 1 minute and 8 in 5 minute. Although the infant needed intensive care for 90 days in the nursery room finally discharged in good condition. We report a case of twin pregnancy in which anencephaly was associated with a normal fetus, so after close counseling we opted to continue the pregnancy resulting in the delivery of a viable fetus.

선천성 완전심차단을 동반한 신생아 루푸스증후군 1예

이재성,김수평,정서호,이영,정인철,윤원식,이종건,천연희,이종승 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.4

신생아 루프스증후군은 피부질환, 간과 혈핵학적 이상 및 선천성 심차단을 특징으로 하는 질환이다. 산모의 anti-Ro (SSA)/La (SSB) 항체가 태반을 통해 태아로 전달되어 발생하는 것으로 보고되고 있는 선천성 완전심 차단은 출생 20,000명중 1명 정도의 발생빈도를 보이며, 다른 선천성 루푸스증후군의 증상이 출산 6개월 이내에 소실되는 것과 달리 영구적이거나 또는 치명적인 부작용을 발생시킨다. 이에 저자들은 무증상 산모에서 임신 29주에 태아완전심차단이 발견되어, 역으로 산모의 anti-Ro (SSA)/La (SSB) 항체를 확인하고 출산 후 신생아에서 자가 항체와 방실 차단을 확인해 신생아 루푸스증후군으로 진단한 예를 경험하였기에 간단한 문헌 고찰과 함께 보고하는 바이다. The neonatal lupus syndrome is characterized by skin lesions, hepatic and hematologic abnormalities and congenital heart block. Congenital heart block which is believed to be caused by transplacental passage of the anti-Ro (SSA)/La (SSB) antibodies from mother to infant, is known to occur in 1 in 20,000 live births. In contrast to other manifestation of neonatal lupus syndrome, which usually subside within 6 months after birth, congenital heart block is a permanent and potentially fatal complication. We experienced a case of neonatal lupus syndorme with congenital complete heart block in a newborn of asyptomatic mother with anti-Ro (SSA)/ La (SSB) antibodies.