The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings

Boo, Hyeyeon,Kim, So Yun,Seoung, Eui Sun,Kim, Min Hyung,Kim, Moon Young,Ryu, Hyun Mee,Han, You Jung,Chung, Jin Hoon Korean Society of Medical Genetics and Genomics 2018 대한의학유전학회지 Vol.15 No.2

Purpose: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. Materials and Methods: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. Results: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. Conclusion: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.

| Film Session Q&A 3 : 12 ; Laparoscopic Primary Repair of Bowel injury

( Hyeyeon Boo ),( Jae Man Bae ),( Won Moo Lee ),( A Ra Koh ),( Un Suk Jung ),( Joong Sub Choi ) 대한산부인과학회 2014 대한산부인과학회 학술대회 Vol.100 No.-

Laparoscopic surgery has important advantages and is widely performed by gynecologists and other surgeons. Along with great strides in laparoscopic surgical techniques, serious complications such as bowel perforation or injury are also rising. This study is to report the case of bowel injury and its laparoscopic repairingtechnique as well. A 32-year-old Korean nullipara was referred to our department because of a chronic pelvic pain and infertility with recurrent failure in in vitro fertilization and embryo. She underwent laparoscopic ovarian cystectomy at other hospital in 2009 and was diagnosed with endometriosis, ASRM stage IV. Laparoscopic finding showed left ovarian cyst with severe adhesions among uterus, bowel, both adnexa and peritoneum. We performed laparosopic left salpingo-oophorectomy, ureterolysis, peritonectomy, and laparoscopic adhesiolysis. An accidental bowel perforation was occurred during the laparoscopic adhesiolysis between sigmoid colon and left pelvic peritoneum. We performed successful laparoscopic repairing techniqueof the injury sitewith interrupted delayed absorbable sutures in inner transmural layer interrupted non-absorbable suturesin outer seromuscular layer. Laparoscopic primary repair of bowel is feasible for women with bowel injury by well-trained surgeons.

OB-03 : Nonlinear and linear indices of fetal heart rate in large for gestational age fetuses

( Hyeyeon Boo ),( Young Sun Park ),( Jeong Kyu Hoh ) 대한산부인과학회 2014 대한산부인과학회 학술대회 Vol.100 No.-

목적: We studied how different linear and nonlinear of fetal heart rate (FHR) indices between normal and uncomplicated large for gestational age (LGA) fetuses, aged 30?42 weeks` gestation. 방법: We performed a retrospective observational study using data previously recorded with the computerized Hanyang Fetal Monitoring (HYFM-II) system. Our study population consisted of 120 pregnant women with LGA who were verified after delivery > 4.00 kg, and 240 normal pregnancies matched for maternal age (median [range], 30 [21-40] yr), parity (1 [0-3]), and gestation (37 [30-42] weeks]) as controls. We analyzed each FHR time series for 20 min. We quantified the complexity (nonlinear dynamics) of each FHR time series by approximate entropy (ApEn) and correlation dimension (CD). All statistical analyses were performed with Median test or Fisher`s exact test as appropriate. We considered p-values less than 0.05 to be significant. 결과: The ApEn and CD of the uncomplicated LGA fetuses were significantly lower than those of the normal fetuses in the third trimester of pregnancy (ApEn, LGA vs. normal, 0.81 [0.29-0.98] vs. 0.87 [0.72-1.28], p=0.0129; CD, 3.78 [2.51-3.98] vs. 3.85 [2.53-4.56], p=0.0177). No significant differences were found in linear indices of FHR (baseline heart rate, number of fetal movements, amplitude, mean minute range, and number of accelerations and decelerations) (p>0.05, respectively). 결론: Irregularity and complexity of the heart rate dynamics of LGA fetuses are lower than that of normal ones. Based on these findings, we propose that uncomplicated LGA fetuses without maternal GDM regarded as a high risk pregnancy, similarly as small-for-gestational age.

The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings

Hyeyeon Boo,So Yun Kim,Eui Sun Seoung,Min Hyung Kim,Moon Young Kim,류현미,You Jung Han,Jin Hoon Chung 대한의학유전학회 2018 대한의학유전학회지 Vol.15 No.2

Purpose: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. Materials and Methods: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound ἀndings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound ἀndings.Results: During the study period, 824 pregnant women had abnormal ultrasound ἀndings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound ἀndings, over-all false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed ac-cording to the type of abnormal ultrasound ἀndings. Discordant results were signiἀcant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. Conclusion: This study found different efἀcacy of NIPT according to the ultrasound ἀndings. The results emphasize the im-portance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.

OB-02 : Differences of linear and non-linear indices of antepartum fetal heart rate in patients with fetal distress at delivery

( Laura Hyeyeon Boo ),( Jeong Kyu Hoh ),( Eun Hyun Lee ),( Young Sun Park ),( Moon Il Park ) 대한산부인과학회 2012 대한산부인과학회 학술대회 Vol.99 No.-

The purpose of this study was to compare and analyze differences in antepartal fetal heart rate (FHR) parameters, non-linear indices, and perinatal outcomes between fetuses of normal and fetal distress at delivery. We surveyed all non-stress test (NST) data acquired using a computerized FHR analysis system at Hanyang University Hospital between 2003 and 2010, and selected 725 cases (fetal distress without any other complications=25 cases and normal 700 cases). NSTs were performed between 38 and 42 weeks of gestation, and all cases were delivered in 2 weeks after NST. Perinatal outcomes were compared, and FHR parameters analyzed using a linear method and a non-linear method using approximate entropy (ApEn), correlation dimension (CD), and short-term/ long-term scaling exponents (α1/ α2). One and 5 minutes Apgar scores (Ap1/Ap5) of fetal distress group were significantly lower than those of normal group (Ap1, 5.92±1.85 vs 6.89±0.73, p=0.0151; Ap5, 6.44±1.45 vs 8.87±0.58, p<0.0001). Other perinatal outcomes and NST parameters showed no significant difference between two groups. Non-linear indices (ApEn, CD, and α2) were significantly different in two groups (ApEn, 0.71 ± 0.18 vs 0.91 ± 0.13, p<0.0001; CD 3.49 ± 0.40 vs 3.83 ± 0.27, p=0.0003; α2, 0.91 ± 0.06 vs 0.86 ± 0.05, p=0.0016, respectively). Compared to normal fetuses, fetal distress cases at delivery show a difference in that the irregularity and complexity of the heart rate dynamics are decreased in antepartal NST, although no differences of FHR parameters between two groups. A more apparent difference is that the long-term fractal correlation of the fetal heart is increased and the fetal heart is smoother in the long-term scale.

OB-48 : Nonlinear analyses of heart rate variability between male and female fetuses

( Jeong Kyu Hoh ),( Laura Hyeyeon Boo ),( Eun Hyun Lee ),( Young Sun Park ),( Moon Il Park ) 대한산부인과학회 2012 대한산부인과학회 학술대회 Vol.99 No.-

The purpose of the present study was to compare and analyze differences in antepartal fetal heart rate (FHR) parameters and non-linear indices (approximate entropy, ApEn; sample entropy, SampEn) between male and female fetuses. We surveyed all non-stress test (NST) data acquired using a computerized FHR analysis system at Hanyang University Hospital. NST of 1,687 male fetuses and 1,831 female fetuses were selected. NSTs were performed between 24 and 42 weeks of gestation. The average baseline FHR and non-linear indices was analyzed according to the gestational ages. Perinatal outcomes were compared, and FHR parameters analyzed using a linear method. Non-linear methods; approximate entropy (ApEn), sample entropy (SampEn), short-term/ long-term scaling exponents (α 1/ α2) and correlation dimension (CD) were used for analysis of FHR dynamics and system complexity. The average of FHR variability, with respect to amplitude (AMP), mean minute range (MMR) and non-linear indices were not different between two groups. Compared by gestational weeks, the ApEn of female group was higher than that of male group from 25 to 30 gestational weeks, however, between 31 and 32 gestational weeks, ApEn of male group was higher than that of female group. The peak of the ApEn of female group was 29-30 gestational weeks (0.92±0.14), whereas the peak of male group was 31-32 gestational weeks (0.93±0.10). Neonatal outcomes were not different between two groups. It might be thought that the heart rate dynamics of female fetuses are matured earlier than that of male fetuses until 30 gestational week. After 32 gestational week, the heart rate dynamics are matured at the same rate until the term pregnancy.

OB-47 : The effectiveness of interval cerclage in patients with incompetent internal os of cervix having preterm labor; preliminary study

( Jeong Kyu Hoh ),( Laura Hyeyeon Boo ),( Eun Hyun Lee ),( Moon Il Park ) 대한산부인과학회 2012 대한산부인과학회 학술대회 Vol.99 No.-

The aim of this study was to determine whether an interval cerclage reduced preterm delivery in those women who had undergone an emergency transvaginal cerclage due to dilated cervix and/or protruding fetal membrane with labor. A retrospective cohort study was conducted on women with a transvaginal cervical cerclage who also went over the interval cerclage. Sixteen cases underwent a transvaginal cerclage and composed the 7 cases of interval cerclage group, whereas 9 others without interval cerclage, only elective cerclage group due to bad obstetric history. Interval cerclage was performed to patients who previously had emergency cerclage due to symptoms of impending preterm delivery at a distance of time. Antibiotics and prophylactic tocolysis were given to all patients. Neonatal outcomes and perinatal complications were analyzed between two groups. Mean initial cervical length before the first surgery was 0.07 cm in interval cerclage group and 4.3 cm in elective cerclage group. Cervical length before second surgery in interval cerclage group was 1.94 cm. Of all 16 cases, no fetal loss was found during present pregnancy. Mean delivery weeks was 35+0 weeks in interval cerclage group while 35+1 weeks in elective cerclage group (p=0.4981). Mean birth weight in interval cerclage group was 1920.0 g and 2145.0 g in elective cerclage group (p=0.2901). Apgar score (1/5 min) was 6/8 in interval cerclage group and 6/8 in elective cerclage group (p=1.000). Other neonatal outcomes and perinatal complications were not different between two groups as well. It is thought that interval cerclage might be a good emergent surgical procedure that can be used in preventing preterm delivery in patients with incompetent internal os of cervix having preterm labor.

OB-49 : Differences of linear and non-linear indices of fetal heart rate between fetuses with partial abruptio placenta and non-placental abruption

( Jeong Kyu Hoh ),( Laura Hyeyeon Boo ),( Eun Hyun Lee ),( Young Sun Park ),( Moon Il Park ) 대한산부인과학회 2012 대한산부인과학회 학술대회 Vol.99 No.-

The purpose of this study was to compare and analyze differences in fetal heart rate (FHR) parameters during pregnancy between fetuses with partial abruptio placenta and non-placental abruption. We surveyed all non-stress test (NST) data acquired using a computerized FHR analysis system at Hanyang University Hospital. 31 cases of partial abruptio placenta, which were identified after delivery, from total NST data between 2003 and 2010 were selected as a study group. NSTs were performed between 31 and 42 weeks of gestation. Perinatal outcomes were compared, and FHR parameters analyzed using a linear method. Non-linear methods; approximate entropy (ApEn), sample entropy (SampEn), short-term/ long-term scaling exponents (α1/ α2) and correlation dimension (CD) were used for analysis of FHR dynamics and system complexity. General characteristics between two groups were not different. NST parameters showed no significant difference between two groups, however, the non-linear indices; ApEn (mean±SD, 0.67±0.17 vs 0.77±0.17; p=0.0005), SampEn (0.54±0.14 vs 0.66±0.17; p<0.0001), / long-term scaling exponents (0.90±0.06 vs 0.87±0.05; p=0.0022), and CD (3.19±0.40 vs 3.34±0.33; p=0.0118) of the partial abruptio placenta group was significantly lower than the non-placental abruption group. Compared to non-placental abruption cases, FHR of partial abruptio placenta cases at delivery show a difference in that the irregularity and complexity of the heart rate dynamics are decreased in antepartal NST, although no differences of FHR parameters between two groups. Non-linear indices of FHR are useful tools for detecting abnormal FHR patterns that are not found in patients with partial abruptio placenta using conventional linear analysis.

OB-46 : Differences of maternal oxygen saturation, blood pressure, and heart rate when performed non-stress test according to the fetal reactivity

( Jeong Kyu Hoh ),( Laura Hyeyeon Boo ),( Eun Hyun Lee ),( Young Sun Park ),( Kyung Joon Cha ),( Moon Il Park ) 대한산부인과학회 2012 대한산부인과학회 학술대회 Vol.99 No.-

The purpose of this study was to compare and analyze differences in maternal oxygen saturation (SpO2), blood pressure (BP), and heart rate (HR) when non-stress test (NST) was performed, according to the fetal reactivity. We selected 8 non-reactive and 119 reactive cases from total NST acquired using a computerized FHR analysis system at Hanyang University Hospital in 2012. Maternal SpO2, BP, and HR were recorded simultaneously when NST was performed. NSTs were performed between 31 and 42 weeks of gestation. Perinatal outcomes were compared, and FHR parameters analyzed. Statistical analysis was performed by Median test or Fisher`s exact test. General characteristics between two groups were not different. NST parameters showed no significant difference between two groups except the amplitude (29.73 vs 24.35; p=0.0274). Maternal BP and HR showed no significant difference between two groups, however, SpO2 showed a statistical difference (96.90 vs 97.23; p=0.0269). Neonatal outcomes between two groups were not different. It might be thought that maternal SpO2 was related to the fetal heart rate reactivity. Further studies would be needed for clarifying our result.

Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile

( Dong Wook Kwak ),( Hyeyeon Boo ),( Eun Hye Chang ),( Hyun Mee Ryu ),( You Jung Han ),( Jin Hoon Chung ),( Moon Young Kim ),( Eun Jung Yang ),( Hye Ji Yoo ),( Jin Woo Kim ) 대한주산의학회 2019 Perinatology Vol.30 No.2

Objective: To evaluate the prevalence and distribution of chromosomal defects in Korean fetuses with nuchal translucency (NT) above the 99th percentile and to analyze them according to the degree of NT thickness. Methods: This study retrospectively reviewed the medical records and ultrasonography images of pregnant women whose fetuses were diagnosed with NT ≥3.5 mm at 11 to 14 weeks of gestation and who underwent karyotyping between 2009 and 2015 at Cheil General Hospital, Seoul, Korea. Results: Among 514 fetuses that met the inclusion criteria, 198 (38.5%) fetuses were confirmed as having chromosomal defects. 156 (30.4%) fetuses concerned autosomal aneuploidies, 27 (5.3%) sex-chromosome aneuploidies, and 1 (0.2%) triploidy. Besides, 11 fetuses (2.1%) were identified as pathogenic structural unbalanced chromosome aberration. When the study populations were divided based on NT thickness, 19.8% fetuses with a thickness of 3.5-4.4 mm, 33.0% of 4.5-5.4 mm, 50.3% of 5.5-6.4 mm, and 67.2% of 6.5 mm or more had chromosomal defects. Conclusion: The incidence of chromosomal abnormalities of Korean fetuses with NT thickness above 99th percentile increases with NT thickness, and the prevalence and distribution based on NT thickness were very similar to those of Caucasian fetuses in previous reports.