임신 중기 양수천자에 대한 임상적 고찰

최영조 ( Young Jo Choi ),정수전 ( Soo Jeon Jeong ),이봉근 ( Bong Keun Lee ),김영남 ( Young Nam Kim ),김혜란 ( Hye Ran Kim ),성문수 ( Moon Su Sung ),김기태 ( Ki Tae Kim ) 대한주산의학회 2003 Perinatology Vol.14 No.3

목적: 본 연구는 세포유전학 검사를 위해 시행된 임신 중기 양수 천자술에서 얻어진 염색체 결과를 통해 염색체 이상의 빈도와 각 임신부의 나이, 적응증에 따른 염색체 이상의 상관관계를 분석하고 양수천자의 안정성과 합병증을 평가하기 위해 시행하였다. 연구방법: 1996년 2월부터 2003년 1월까지 인제대학교 부산백병원 산부인과에서 시행한 양수천자 334예를 대상으로 임산부의 연령, 임신주수의 분포, 양수천자의 적응증, 염색체 핵형 분석, 임산부의 연령 및 적응증에 따른 염색체 이상의 상관관계 등과 양수천자의 안전성과 합병증을 분석하였다. 결과: 양수천자의 적응증은 모체 혈청 표지자 검사가 155예 (46.4%)로 가장 많았고 그 외 35세 이상의 고령 임신이 134예 (40.1%), 선천성 기형이나 염색체 이상의 출산력을 가진 경우가 21예 (6.3%), 초음파검사에서 이상 소견을 보인 경우가 13예 (3.9%) 등이 있었다. 염색체이상의 빈도는 2.4% (8예)였으며 이중 수적 이상만 있는 경우가 0.9% (3예), 구조적 이상만 있는 경우가 1.2% (4예), 수적 이상과 구조적 이상이 동반된 경우가 0.3% (1예) 있었다. 산모 연령에 따른 염색체 이상의 빈도는 35세 미만의 군에서 3.5% (200예 중 7예)의 빈도를 보여 35세 이상의 고령임신에서의 0.8% (134예 중 1예)보다 높은 빈도를 보였으나 통계학적 유의성은 없었다(P>0.05). 적응증에 따른 염색체 이상의 빈도는 염색체이상이나 선천성 기형아의 출산력이 50% (2예 중 1예), 모체혈청 표지자 검사 상 이상이 3.9% (155예 중 6예), 고령임신이 0.8% (134예 중 1예) 등이었으나 모든 경우에서 통계학적 유의성은 없었다(P>0.05). 양수천자 시행 후 3예 (0.9%)에서 합병증(자연유산 1예, 질출혈 1예, 양수누출 1예)이 발생하였다. 결론: 임신 중기 양수 천자술은 태아 염색체 이상을 진단할 수 있는 비교적 안전하고 유용한 산전 세포유전자 검사법이다. 만 35세 이상의 고령임신이 양수 천자술의 주요 적응증이지만 35세 미만의 임신부에서도 많은 염색체 이상소견이 발견됨으로, 고령임신 이외에도 산전 모체 혈청 표지자 검사 상 이상 소견, 초음파상에 유전자이상이 의심되는 경우, 염색체 이상이나 선천성 기형의 과거 임신력, 염색체 이상이나 선천성 기형의 가족력 등의 산전 태아 이상소견이 의심되는 경우에는 세포유전자 검사를 시행하여야 한다. Objective: The objective of this study was to analyze the distributions of maternal age, the indications, cytogenetic results and the safety of 334 cases of midtrimester amniocentesis. Methods: We reviewed retrospectively 334 cases of midtrimester genetic aminiocentesis which were performed in Pusanpaik Hospital, Inje University from February 1996 to January 2003. The distributions of maternal and gestational age, the indications, chromosomal results, the correlation between age and results of chromosomal analysis, the correlation between the indications and results of chromosomal analysis, and the risks and complications of the procedure were analyzed. Results: The most common indication for amniocentesis was abnormal results of maternal serum screenings (46.4%) and which was followed by advanced maternal age (≥35) (40.1%), previous history of fetal congenital or chromosomal abnomalies (6.3%), abnormal ultrasonographic findings (3.9%). The overall incidence of chromosomal aberration was 2.4% (8 cases) and which was composed of 0.9% (3 cases) of numerical aberrations and 1.2% (4 cases) of structural aberration and 0.3% (1 case) of both numerical and structural aberration. Although there was no statistical significance, the chromosomal aberrations were more commonly detected in the patients aged before 35 years old than in the patients aged above 35 years old (3.5% vs 0.8%) (P>0.05). The incidence of chromosomal aberrations according to indications had no statistical significance (P>0.05). There were three cases (0.9%) of complications, one case of pregnancy loss (0.3%) and 2 other procedure-related complications (1 case of amniotic fluid leakage and 1 case of vaginal bleeding). Conclusion: Midtrimester amniocentesis is relatively effective and safe invasive diagnostic procedure for prenatal cytogenetic studies. Although advanced old age (≥35) is still important indication in midtrimester amniocentesis, abnormal results of maternal serum marker, ultrasonographic findings, and other abnormal conditions might be important indications because of many cases of chromosomal aberrations detected in younger age.

임신중반기 양수내 Tumor Necrosis Factor-∝ 측정의 의의 : Pregnancy Outcome과의 관련성 연구

최형민(HM Choi),조재성(JS Cho),김경수(KS Kim),양영호(YH Yang),박용원(YW Park),김재욱(JU Kim) 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.2

Objective: Our purpose is to investigate if tumor necrosis factor-∝(TNF-∝) levels in midtrimester correlate with pregnancies complicated by preterm labor, preeclamsia, and intr- auterine growth retardation(IUGR). Study Design: A case control study design was used to compare midtrimester amniotic fluid TNF-∝ levels from women with normal pregnancy outcome(n=54) and pregnancies complicated by preterm labor(n=10), preeclampsia(n=8), and IUGR(n=4). Result: TNF-∝ levels in midtrimester amniotic fluid in women with normal pregnancy ourcome were 8.8±4.0pg/ml. Also, TNF-∝ levels in women with preterm labor, preeclamsia, and IUGR were 9.7±6.0pg/ml, 6.0±4.1pg/ml, 7.5±2.6pg/ml respectively. Conclusion: TNF-∝ levels in midtrimester amniotic fluid do not correlate with preg- nancies complicated by preterm labor, preeclamsia, and IUGR different from the third trime- ster(p=0.06).

임신 중기 양수천자 3,537예에 대한 세포유전학적 분석 및 임상적 고찰

장성규 ( Sung Kyoo Jang ),최욱환 ( Ook Hwan Choi ) 대한주산의학회 2007 Perinatology Vol.18 No.1

목적: 산전 유전학적 진단의 목적으로 임신 중기 양수천자술을 시행한 환자에서의 연령별 분포 및 적응증별 분포와 이에 따른 염색체 이상의 발현 빈도를 분석하였다. 방법: 1994년부터 2006년 6월까지 부산대학교병원 산전 유전 검사실에 의뢰되어 산전 유전검사 목적으로 시행된 3,537예의 임신 중기 양수천자검사의 결과를 후향적으로 분석하였다. 결과: 3,537예의 대상군의 연령별 분포는 25~29세군(32.8%), 30~34세군(32.1%), 35~39세군(24.3%)의 순이었다. 양수천자술의 적응증에서는 비정상 모체혈청 검사가 가장 많았으며(42.6%),고령임신이 31.8%, 염색체 이상의 가족력이 있는 경우가 7.0%였다. 전체 염색체 이상의 빈도는 5.0%였으며, 이중 수적이상과 구조적 이상이 각각 2.4%, 2.6%였다. 염색체의 이상은 45세 이상의 경우에 16.7%로 가장 높은 빈도를 보였고, 40~44세군에서 6.3%, 25~29세군에서 5.6%의 빈도를 보였다. 적응증에 따른 염색체 이상의 빈도는 습관성 유산(21.2%), 염색체 이상의 과거력이 있는 경우(14.3%), 비정상 초음파 소견을 보인 경우(11.5%), 고령임신(5.7%)의 순이었다. 결론: 산전 유전학적 진단을 위한 임신 중기 양수천자술에서 비정상 임신부 혈청 선별검사와 고령임신이 중요한 적응증을 차지하나, 본 연구에서와 같이 습관성 유산이나 염색체 이상의 과거력, 비정상초음파 소견 등도 임신 중기 양수천자술을 시행하는데 있어 중요한 적응증으로 고려해야 함을 알 수 있다. Objective: To analyze the incidence of chromosomal abnormalities according to age and indications in midtrimester amniocentesis performed for prenatal genetic diagnosis. Methods: We retrospectively analyzed the results of 3,537 cases of midtrimester prenatal genetic amniocentesis which were performed from 1994 to June 2006 in the cytogenetic laboratory at Pusan National University Hospital. Results: Of the 3,537 midtrimester amniocentesis cases, the most common maternal age group was 25~29 years old (32.8%), followed by 30-34 years old (32.1%) and 35~39 years old (24.3%). The indications for amniocentesis were abnormal triple test (42.6%), advanced maternal age (31.8%), family history of chromosomal abnormality (7.0%), in the respective order. The overall incidence of chromosomal abnormalities was 5.0%, of which numerical abnormalities and structural abnormalities were 2.4% and 2.6%, respectively. Chromosomal abnormalities were most frequently found in the maternal age over 45 (16.7%), followed by 40~44 years old (6.3%) and 25~29 years old (5.6%). According to the indications of amniocentesis, chromosomal abnormalities were found in patients with habitual abortion (21.2%), previous history of chromosomal abnormality (14.3%), abnormal finding on ultrasonography (11.5%) and advanced maternal age (5.7%), in the respective order. Conclusion: In this study, in addition to although abnormal triple test and advanced maternal age as important indications of midtrimester amniocentesis for prenatal diagnosis, other indications such as habitual abortion, previous history of chromosomal abnormality and abnormal finding on ultrasonography should be considered important as indications of midtrimester amniocentesis.

임신 중기 양수천자 1,064예의 임상고찰

김상향(Sang Hyang Kim),김현주(Hyun Joo Kim),박은선(Eun Sun Park),최미영(Mi Young Choi),전정희(Chung Hee Chun) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.8

Midtrimester genetic amniocentesis has been a gold standard for prenatal diagnosis in antenatal care since last 25 years. After the triple serum marker test was introduced as a prenatal screening method for Down syndrome, the frequency of genetic amniocentesis was increased. Objective: To determine the complication, risk of amniocentesis and detection rate of chromosomal abnormality. Material and method: A retrospective clinical analysis of 1,064 midtrimester genetic amnicentesis in IL Sin Christian Hospital antenatal clinic from Jan 1995 to Dec 1997. Chi square test was used for the statistical analysis and p value <0.05 was considered significant. Results: Amnicentesis were significantly increased in the age of 35-39 yrs and 40yrs over. And also the incidence of chromosomal abnormality was higher than younger age group. The indications of amnicentesis were screen positive of triple marker test(43%), advanced maternal age(20.8%), abnormal β-hCG level, past history of chromosome abnormality or malformed baby and abnormal α-FP level in order. Total number of chromosomal abnormalities was 30 and the incidence of chromosomal abnormalities was 2.8%(30/1,064). The complications were developed in 13 cases and fetal loss rate was 0.78%(9/1,064). Conclusion:The detection rate of chromosomal abnormality in midtrimester amnicentesis for prenatal diagnosis was high and relatively safe procedure but, we should be attention to more careful manipulation.

임신 중기 양수천자 3,503예에 대한 세포 유전학적 분석: CUMC 경험 (2)

박인양 ( Park In Yang ),신종철 ( Sin Jong Cheol ),김석찬 ( Kim Seog Chan ),안현영 ( An Hyeon Yeong ),문희봉 ( Mun Hui Bong ),박철훈 ( Park Cheol Hun ),이희중 ( Lee Hui Jung ),이영 ( Lee Yeong ),나종구 ( Na Jong Gu ),김수평 ( Kim 대한산부인과학회 2004 Obstetrics & Gynecology Science Vol.47 No.1

Objective : To analyze chromosomal abnormalities according to patient`s age and indications of patients in midtrimester amniocentesis for prenatal genetic diagnosis. Methods : We retrospectively analyzed 3,503 cases of midtrimester prenatal genetic amnioc

임신 중기 양수천자 1,565 례에 대한 세포유전학적 분석 : CUMC 경험 (1)

안현영(Hyun Young Ahn),정대영(Dae Young Jung),백은정(Eun Jung Baik),이형근(Hyung Geun Lee),문희봉(Hee Bong Moon),이지현(Jee Hyun Lee),김석찬(Seok Chan Kim),신종철(Jong Chul Shin),나종구(Jong Goo Rha),김수평(Soo Pyung Kim) 대한산부인과학회 2001 Obstetrics & Gynecology Science Vol.44 No.6

Objectives: To analyze chromosomal abnormalities according to patients age and indications of patients in midtrimester amniocentesis for prenatal genetic diagnosis. Methods: We retrospectively analyzed 1,565 cases of midtrimester prenatal genetic amniocentesis cases which were done in the cytogenetics laboratory at Kangnam St. Hospital, Catholic University Medical College from November1997 to May 2000. Results: In 1,565 cases, the most common maternal and gestational age distributions were 35 to 39 years old and 17 to 17+6 weeks (32.78Vo and 2l.47%, respectively). Abnormal maternal serum markers were the most common indication for amniocentesis (43.64%), and followed by advanced maternal age (40.45%) and abnormal ultrasonographic findings (3.64%). The overall incidence of chromosomal abnormalities was 4.47% (70 cases), of which numerical abnormalities and structural abnormalities were 1.86% (29 cases) and 2.61% (41 cases), respectively. Among the autosomal abnormalities, Down syndrome was most common (10 cases, 0.65%), and followed by Edward syndrome (9 cases, 0.59%). Among the sex chromosomal abnormalities, both of 47,XXX and 47,XXY were most common (3 cases, 0.20%, respectively). Chromosomal abnormalities were most frequently noted in the maternal age of 25 to 29 years old (5.10%), 30 to 34 years old (4.82%), 40 to 44 years old (4.31%), and followed by 35 to 39 years old (3.90%). On the other hand, chromosomal abnormalities were most frequently noted in abnormal ultrasonographic findings (7.02%), previous history of aneuploidy (5.88%), and followed by advanced maternal age (3.95%). Conclusion: This study suggested that although advanced maternal age is still important indication in midtrimester amniocentesis for prenatal diagnosis, abnormal maternal serum markers and ultrasonographic findings might be also important as indications. Therefore, they should be considered in prenatal genetic counseling.

임신 중기 양수의 이상 염색체 분석

김광준(Gwang Jun Kim),최수란(Su Ran Choi),이순표(Soon Pyeu Lee),황병철(Byung Chul Whang),이의돈(Eyi Don Lee),김석영(Suk Young Kim),윤성준(Sung Jun Yoon),한은애(Eun Hye Han),안정렬(Jung Rerl Ahn),최유덕(Yu Duk Choi),최승헌(Seung Hyun 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.6

Objective : To analyze cytogenetic results of prenatal genetic amniocentesis. Methods : From January 1997 to December 2000, We analyzed 1,390 cases of midtrimester amniocentesis which were done at Gil medical center of Gachon medical school according to its indications and maternal age. Results : Chromosomal aberrations were found in 88 cases (6.3%). Of all our chromosomal aberrations, 29 cases (2.1%) of normal variants and 59 cases (4.2%) of abnormal karyotypes were found. 37 cases of autosomal numerical abnormal karyotypes and 7 cases of sex chromosomal abnormal karyotypes were diagnosed. In abnormal karyotype group, the incidence was high after 40 years of maternal age and in abnormal ultrasound findings, but no such correlations were found in normal variant group. Conclusion : In analysis of midtrimester amniocentesis, it would be better to analyze separately abnormal karyotype group and normal variant group.

In Situ Coverslip 배양을 이용한 임신중기 양수 천자 785 예의 세포유전학적 고찰

김지현 ( Kim Ji Hyeon ),변재천 ( Byeon Jae Cheon ),신지현 ( Sin Ji Hyeon ),손근아 ( Son Geun A ),제구화 ( Je Gu Hwa ),한진영 ( Han Jin Yeong ) 대한산부인과학회 2004 Obstetrics & Gynecology Science Vol.47 No.5

Objective : Amniocentesis is the most commonly used invasive method for prenatal diagnosis of genetic disorders. We performed this study to analyze the indications, distributions of maternal age and cytogenetic results of midtrimester amniocentesis. Methods : We retrospectively analyzed 785 cases of midtrimester prenatal genetic amniocentesis which were performed in the cytogenetics laboratory using in situ coverslip culture at Dong-A University Hospital from January 1995 to March 2003. Results : Amniocentesis was practiced mostly from 15 weeks to 20 of gestational ages. Requested indications of amniocentesis were abnormal maternal serum screening (421, 53.7%), advanced maternal age (233, 29.7%) and abnormal ultrasonographic finding (61, 7.8%) in the order of decrease. The overall incidence of chromosome abnormalities was 5.1% (40 cases), and it contains 27 cases (3.4%) of numerical abnormalities and 13 cases (1.7%) of structural abnormalities. Among autosomal abnormalities Down syndrome was most common (13 cases) and followed by Edward syndrome (2 cases). Of the sex chromosomal abnormalities, three cases of Turner syndrome and three cases of Kleinefelter syndrome were found. Chromosomal abnormalities were most frequently noted in the maternal age of 30 to 34 years old (14 cases, 35.0%), 25 to 29 years old (12 cases, 30.0%), followed by 35 to 39 years old (7 cases, 17.5%). The frequency of pseudomosaicism were 5 cases (0.6%). Conclusion : Maternal serum screening advanced maternal age and antenatal ultrasonographic finding must be important screening methods for amniocentesis which is considered to the most effective diagnostic procecdure for prenatal cytogenetic studies. I conclude that th karyotyping analysis of midtrmester amniocentesis efficacious method for detection of chromosomal aberration and genetic counselling for parents.

초음파검사에 의한 임신 중기 한국인 태아의 임신주수별 태아성장지표의 정상치에 관한 연구

김병재(Byoung Jae Kim),이정렬(Jung Ryeol Lee),김대호(Dae Ho Kim),왕수관(Soo Kwan Wang),고은미(Eun Mi Ko),심순섭(Soon Sup Shim),한수연(Soo Yeon Han),박중신(Joong Shin Park),전종관(Jong Kwan Jun),윤보현(Bo Hyun Yoon),문신용(Shin Yong M 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.1

Objective : This study was done to formulate Korean fetal biometry charts of midtrimester presenting percentile values as a function of gestational age. Methods : The relationships between the ultrasound measurement of 5 fetal parameters (biparietal diameter, head circumference, abdominal circumference, femur length, transverse cerebellar diameter) and nuchal skinfold thickness and menstrual age were determined by a cross-sectional study. The study group consisted of 215 normal healthy pregnant Korean women with known last menstrual period and regular menstrual period who had been performed genetic amniocentesis at our hospital and for whom complete pregnancy outcome information was available. All ultrasound examination was performed by one expert examiner. For each of the 5 parameters, the 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles were determined. Results : Ready-to-use fetal measurement charts in midtrimester are presented in a format giving the percentile values as a function of gestational age. Conclusion : These fetal biometry charts, obtained from midtrimester, Korean women can be used as a reference value

한국 여성의 정상 단태 임신에 있어서 임신중기 양수 내 alpha-fetoprotein의 정상범위

김준형 ( Jun Hyung Kim ),변영지 ( Young Ji Byun ),박재선 ( Jai Sun Park ),박진영 ( Jin Young Park ),양정인 ( Jeong In Yang ),김행수 ( Haeng Soo Kim ),유희석 ( Hee Suk Ryu ) 대한산부인과학회 2007 Obstetrics & Gynecology Science Vol.50 No.12

Objective: To determine normal range of amniotic fluid alpha-fetoprotein (AFAFP) in midtrimester singleton Korean pregnant women whose pregnancy and neonatal outcomes were uneventful. Methods: AFAFP levels were measured in midtrimester pregnancy during amniocentesis from May 1995 to September 2006 at tertiary referral center. Normal ranges were obtained from 954 singleton pregnancies in which pregnancy and neonatal outcomes were normal. Results: Median values of AFAFP in midtrimester pregnancy were 15,800 ng/mL, 13,903.9 ng/mL, 11,408.7 ng/mL, 9,690.1 ng/mL, 6,923.4 ng/mL, 6,330.0 ng/mL, 5,295.3 ng/mL, 4,421.2 ng/mL, 3,162.5 ng/mL at 16 week, 17 week, 18 week, 19 week, 20 week, 21 week, 22 week, 23 week, and 24 week. Conclusion: The normal range of AFAFP level in each gestational week in Korean women could be a good reference for prenatal diagnosis of various disorders.