Korean Mothersafe Center 10th Anniversary: Outcome and Future Prospects

PURPOSE@#The purpose of this report is to organize the history of Korean Mothersafe, a professional teratology information center. Throughout its domestic and international activities, Mothersafe has firm role to write journals and books, to provide counseling, to run educational courses on maternal and fetal toxicology, and so on. This paper delineates the achievements in last ten years and discusses the vision of Mothersafe.@*METHODS@#In order to formulate the accomplishments of Korean Mothersafe, the volume of counseling calls are carefully reviewed by their contents, counselees, and the consultation results, etc. Textbooks and journals based on the data from Mothersafe are evaluated. Other roles of the Mothersafe, such as hosting symposium and running public programs are also noted.@*RESULTS@#Korean Mothersafe provided 76,555 counseling to 45,933 expectant women and 30,622 breast-feeding women. The database has total 52,130 enrollments from 2010 to 2019. A total of 33 papers are published regarding medication, alcohol, smoking, radiation, etc. A specialized book on maternal-fetal toxicology was published and teratology part of obstetrics textbook was updated. Education programs and symposiums were held and primary care programs for expectant parents are run by Mothersafe.@*CONCLUSION@#Korean Mothersafe has contributed to safe environments for numerous pregnant and breast-feeding women regarding medication, drinking, smoking, and other hazardous substances. The huge database provided evidence for researches, textbooks and seminars, etc. Korean Mothersafe is now facing a new challenge to go forward through social dynamics with many issues regarding prevention and continuance of pregnancy, abortion, and so on.

Isotretinoin exposure in pregnant women in Korea

OBJECTIVE: Isotretinoin is a notorious teratogen otherwise used for the treatment of acne vulgaris. Some countries, including those in North America and the European Union, implemented the pregnancy prevention program (PPP); however, no PPP has yet been established in South Korea. So the aim of this study was to evaluate the rate of pregnant women exposed to isotretinoin among the callers of the Korean Mother Safe Counseling Center. METHODS: This is a prospective cohort study. We evaluated the demographic characteristics, obstetric history, and isotretinoin exposure of pregnant women based on the mother safe registry from April 2010 to July 2016. RESULTS: Among 22,374 callers, 650 (2.9%) pregnant women were exposed to isotretinoin. The mean age was 29.0±4.4 years in the isotretinoin-exposed group and 32.0±4.2 years in the unexposed group (P < 0.001). Moreover, the incidence of pregnancies within 30 days after isotretinoin discontinuation or during isotretinoin intake was 78.9% (513/650). The median duration of isotretinoin exposure was 18 (1–4,231) days. Furthermore, from 2011 to 2015, the incidence of isotretinoin exposure was 2.9±1.2 pregnancies per 10,000 births in South Korea. CONCLUSION: Approximately 80% of pregnant women are exposed to isotretinoin within the recommended 30 days of contraception or during pregnancy. Therefore, the PPP has to be established in South Korea.

Etiological evaluation of repeated biochemical pregnancy in infertile couples who have undergone in vitro fertilization

OBJECTIVE: This study aims to investigate whether there are any notable etiologies for repeated biochemical pregnancy (RBP) and, if so, to compare those etiologies associated with repeated spontaneous abortion in infertile couples who have undergone in vitro fertilization (IVF). METHODS: Forty-four infertile couples who underwent IVF and experienced RBP were included in this study. RBP was defined as more than 2 early pregnancy losses that occurred before the detection of a gestational sac, with ectopic pregnancies specifically excluded by serial serum beta human chorionic gonadotropin evaluation. Forty-three infertile couples who underwent IVF and experienced recurrent spontaneous abortion (RSA) were included as a control group. Karyotype analysis, anatomic evaluation of uterus, endocrine and immunological evaluation were performed. In addition, the number of pregnant women confirmed by 12 weeks' gestation was compared between groups. RESULTS: Immunological factors (RSA: 20.9% vs. RBP: 29.5%, P=0.361), diminished ovarian reserve (RSA: 10.9% vs. RBP: 17%, P=0.552), and parental chromosomal abnormalities (RSA: 18.6% vs. RBP: 9.1%, P=0.218) were not different between groups. Additionally, the incidence of uterine factors (RSA: 11.6% vs. RBP: 4.6%, P=0.206), unknown cause (RSA: 48.8% vs. RBP: 54.5%, P=0.161), and the pregnancy outcome identified until 12 weeks' gestation (RSA: 46.5% vs. RBP: 38.6%, P=0.520) did not differ between groups. CONCLUSION: In the present study, the causes of RBP after IVF were similar to those of RSA. Accordingly, we suggest that efforts should be made to define the etiology of RBP, particularly for infertile couples, and that possible management strategies should be offered.

Prenatal diagnosis of 4p deletion syndrome: A case series report

The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a well-known genetic disorder caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements leads to a wide spectrum of clinical manifestations. Herein, we present our experience with eight cases of 4p deletion syndrome, ascertained prenatally between 1998 and 2016 at our hospital.

Evaluation of the Success Rate Following Amnioinfusion in Pregnant Women Undergoing External Cephalic Version after Initial Failure

PURPOSE: To evaluate the success rate following amnioinfusion in pregnant women undergoing external cephalic version (ECV) after initial failure. METHODS: This prospective study enrolled 17 consecutive pregnant women from October 2013 to May 2015. ECV was performed with amnioinfusion after initial failure. The success rates of ECV and vaginal delivery, including pregnancy outcomes, were analyzed. RESULTS: ECV was performed at an average of 37.3±0.6 weeks of gestational age. Eight of seventeen patients were nulliparous. The estimated fetal weight was 2,688±279 g, and the amniotic fluid index was 6.4±2.6 cm. The overall success rate of ECV was 70.6% (12/17), and the success rates in nulliparous and multiparous women were 75.0% (6/8) and 66.7% (6/9), respectively. The rate of emergent cesarean section within 24 hours was 11.8% (2/17). Excluding one women who were lost to follow-up, the rate of normal vaginal delivery was 81.8% (9/11) among the women who had successful ECV. We did not observe any complications such as uterine rupture, placental abruption, or intrauterine fetal death. CONCLUSION: Although ECV with amnioinfusion after initial failure might help increase the success rate of ECV, it needs to be further evaluated in larger studies.

Observed frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women older than 34 years at delivery

PURPOSE: Increased maternal age is a major risk factor for chromosomal abnormalities. The maternal age-specific risk of fetal trisomy was theoretically calculated. We investigated the actual frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women over the age of 34 at delivery. MATERIALS AND METHODS: We retrospectively, over a four-year period, reviewed the medical records of women with singleton pregnancies that started their antenatal care before the 10th week of pregnancy. Pregnant women aged 34 to 45 years at the time of delivery were enrolled and divided into groups of one-year intervals. We investigated the frequency of Down syndrome and all trisomies as a function of the maternal age and compared with the theoretical maternal-age-specific risk. RESULTS: Of the 5,858 pregnant women enrolled in the study, the rate of trisomy 21 was 0.29% (17 cases). The observed frequencies of trisomy 21 in women with maternal ages of 35 years and 40 years were 1:1,116 and 1:141, respectively. The rate of all trisomies was 0.39% (23 cases). The observed frequencies of all trisomies in women with maternal ages of 35 years and 40 years were 1:372 and 1:56, respectively. CONCLUSION: The frequencies of Down syndrome and all trisomies were proportional to the maternal age. However, the observed frequencies of Down syndrome and all trisomies between the 16 and 24 gestational weeks were lower than the theoretical rates.

Fetal Loss Rate after Mid-trimester Amniocentesis

PURPOSE: The aim of this study was to asses the fetal loss rate after mid-trimester amniocentesis. MATERIALS AND METHODS: This was a retrospective cohort study including singleton pregnant women who underwent mid-trimester amniocentesis at Cheil General Hospital from January 2008 through December 2010. The procedure-related fetal loss was defined as miscarriage within 2 weeks after amniocentesis. We evaluated the fetal loss rate within 2 weeks after amniocentesis and fetal loss rate before 24 gestational weeks. RESULTS: During the study period, a total of 4,356 singleton pregnant women underwent mid-trimester amniocentesis. A total of Five hundred ninety six women were excluded owing to follow up loss and termination of pregnancy due to abnormal karyotype or major anomaly. At our institute, the fetal loss rate within 2 weeks was 0.1% and before 24 gestational weeks was 0.3% after amniocentesis. CONCLUSION: The fetal loss rate after mid-trimester amniocentesis in our study is lower than previously reported rate. We suggest that amniocentesis is a safe procedure.

Genetic Polymorphism in Corticotropin-releasing Hormone Receptor Type-1 in Preeclamptic Korean Women

PURPOSE: Placental corticotropin-releasing hormone receptor type 1 (CRHR1) expression is reduced in pregnancies with abnormal placental function such as preeclampsia (PE), and the levels and/or function of CRHR1 are genetically influenced. The aim of this study was to investigate the association between the c.33+8199C>T polymorphism in the CRHR1 gene and PE in a Korean population. MATERIALS AND METHODS: Using a case-control design, the association between the CRHR1 polymorphism and the risk of PE was investigated in 203 individuals with PE and 211 normotensive controls. Genotypes were determined using a SNapShot kit and an ABI Prism 3100 Genetic analyzer. RESULTS: Genotypes and allele frequencies for the CRHR1 polymorphism did not differ between PE and normotensive pregnancies. The variant T allele was more frequent than the ancestral C allele in both of the groups and was more frequent in the controls than in the cases. In risk analysis for PE, there was not an increased risk of preeclampsia in subjects who were concomitant homozygous rare allele genotypes (CC) (OR, 0.3; P=0.15) or heterozygous rare allele genotypes (TC) (OR, 0.8; P=0.29). There were no differences in the complications of PE such as severity or preterm delivery in patients with the CRHR1 polymorphism. CONCLUSION: Our findings indicate that the CRHR1 polymorphism was not associated with PE in the present Korean study group.

Pregnancy Outcomes after Conservative Treatment of Cervical Intraepithelial Lesions: Cold Knife Conization and Loop Electrosurgical Procedure / 대한주산의학회잡지

OBJECTIVE: In this study, we evaluated whether different methods of conization of the cervix were associated with an increased risk of adverse pregnancy outcomes in subsequent pregnancy. METHODS: A retrospective case-control study was conducted. The study group included women who had undergone cold knife conization (n=170) or a loop electrosurgical excision procedure (LEEP) (n=86) and then had subsequent singleton pregnancies. The control group (n=497) included women with no history of cervical surgery. The outcomes were spontaneous preterm delivery and various neonatal outcomes such as low birth weight (LBW) and perinatal mortality. RESULTS: Cold knife conization was associated with a significantly increased risk of preterm delivery less than 34 weeks (relative risk 4.9, 95% confidence interval 1.6-15.1), preterm delivery less than 28 weeks (7.6, 15-39.6), LBW (2.6, 1.2-5.8), and perinatal mortality (11.9, 1.3-107.6). LEEP was not associated with a increased risk of adverse pregnancy outcomes. CONCLUSION: Cold knife cone biopsy, but not LEEP of the cervix, is associated with an increased risk of preterm delivery less than 34 weeks of gestation and adverse neonatal outcomes. Clinicians counsel women appropriately before conservative treatment of cervical intraepithelial lesions.

Pregnancy Outcomes after Peri-conceptional Medication Exposure; 10 Years Experience: Study for Application of Reproductive Toxicity Information / 대한주산의학회잡지

PURPOSE: In Korea, pregnancy termination is frequently reported among women who took medications for an acute or chronic disease during pregnancy, for fear of teratogenic risk. We have previously shown that a service providing evidence-based information is helpful for women who week counseling to make a rational decision regarding their pregnancies. This study aimed to evaluate whether termination of pregnancy based on such perceptions, is justified using the 'DRug Exposure and risk Assessment in Moms' (DREAM) registry. METHODS: The study included 5,032 consenting pregnant women from the clinic and call center at the Korean Motherisk Program, from November 1999 to October 2008. The DREAM registry recorded the pregnancy outcomes (preterm birth, low birth weight, intrauterine fetal death, and congenital anomaly) of 3,328 women. RESULTS: Among women exposed to medications, time of exposure ranged from 3.5-4.6 weeks of gestation. There were 1,308 different drugs prescribed to these women. The drug most frequently prescribed was acetaminophen followed by chlorpheniramine maleate, and pseudoephedrine. There were 4.7% (n=156/3,328) women who underwent a voluntary abortion for fear of birth defects. We compared frequency of birth defects between exposed women and unexposed pregnant women in our institution during gestation. The frequency of major congenital malformations was 2.5% (n=74/2,977) in exposed group and 2.9% (n=75/2,573) in unexposed group (P=0.32). There was no statistically significant difference between exposed and control group in the rate of preterm births, intrauterine fetal death and low-birth weight babies. CONCLUSION: We did not observe increased risk of congenital malformations and adverse pregnancy outcomes in a population of pregnant women exposed to a variety of medications. Therefore these medications are not considered teratogen.

Reduced Number of Endothelial Progenitor Colony-Forming Units in Patients with Preeclampsia

PURPOSE: Endothelial progenitor cells (EPCs), which mediates neovascularization of uterine endometrium may be involved in the neovascularization in the utero-placental circulation. Low numbers of endothelial progenitor colony-forming unit (CFU) in culture are predictive biomarker of vascular disease. The aim of the present study was to evaluate whether the number of CFU in preeclampsia differed from that in normal pregnancy. MATERIALS AND METHODS: Women with singleton normal (n=26) or preeclamptic (n=20) pregnancies were studied during the third trimester. The number of EPCs was quantified by CFU methodology. Plasma levels of angiogenic factors, vascular endothelial growth factor (VEGF), soluble fms-like tyrosine kinase-1 (sFlt-1), and placental growth factor (PlGF) were determined by enzyme-linked immunoassay. RESULTS: CFU numbers were significantly decreased in the preeclamptic patients compared with the controls (median, 3; range 1-12 vs. 31; 3-81 CFU/well, P<0.001). A majority of the cells comprising individual colonies were positive for endothelial characteristics (Ulex europaeus lectin staining and acetylated low-density lipoprotein uptake). Plasma levels of the sFlt-1 were highly elevated (P<0.001) in patient with preeclampsia compared to controls, whereas PlGF were highly reduced (P=0.004), but these factors did not associate with CFU numbers. CONCLUSION: Our results suggest that reduced numbers of CFU obtained from maternal peripheral blood may contribute to the development of preeclampsia.

Polymorphisms of 5, 10-Methylentetrahydrofolate Reductase (MTHFR C677T) and Methionine Synthase Reductase (MTRR A66G) as Maternal Risk Factors for Fetal Aneuploidy

PURPOSE: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. MATERIALS AND METHODS: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. RESULTS: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). CONCLUSION: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.

Compliance with Adjuvant Chemotherapy for Completely Resected Non-small Cell Lung Cancer

PURPOSE : To evaluate the compliance of patients who underwent complete resection of non-small cell lung cancer (NSCLC) with adjuvant chemotherapy. MATERIALS AND METHODS : Between January 2004 and May 2006, patients who underwent a complete resection for NSCLC were referred to oncologists for adjuvant chemotherapy. Three or 4 cycles of platinum-based adjuvant chemotherapy was then performed according to the protocol or the preference of the oncologists. RESULTS : Two hundred and thirty-two patients were enrolled in this study. The median age of the study group was 60.9 years and 76.7 % of the patients enrolled were male. 34.9%, 28.8% and 36.2% of the patients were in stage IB, II and III respectively. In addition, 142 of the patients (61.2%) completed all planned cycles, whereas 65 patients (28%) received no therapy. The causes of start failure for adjuvant chemotherapy consisted of decreased postoperative performance status (n=39), refusal (n=13) and distant metastasis at the initial follow-up (n=2). The causes of cessation during adjuvant chemotherapy included the occurrence of severe adverse effects (n=12), aggravation of the disease with newly developed metastasis (n=4) and others (n=6). The mortality related to the adjuvant chemotherapy was 1.3 % (n=3), all of the fatalities were due to pneumonia and sepsis. Univariate analysis showed that age, postoperative complications and pathologic staging were the significant factors that determined whether the adjuvant chemotherapy was completed. Multivariate analysis demonstrated statistically significant differences in compliance when age and pathologic staging were considered. CONCLUSION : Adjuvant chemotherapy for completely resected NSCLC was performed with satisfactory compliance in approximately 60% of the patients included in this study, and age plays an important role in the compliance of adjuvant chemotherapy. Elderly subsets will be examined to help determine the effect of age on compliance and outcome. In addition, the medical oncologist tended to complete the adjuvant chemotherapy for more advanced cases of lung cancer than for stage IB lung cancer

Threshold of Nuchal Translucency for the Detection of Chromosomal Aberration: Comparison of Different Cut-offs

This study evaluated the sensitivities and false positive rates of the screening test using ultrasonographic measurement of thickness of nuchal translucency (NT) with different cut-offs for chromosomal aberration in a Korean population. We included 2,570 singleton pregnancies undergoing ultrasound between 11 weeks and 14 weeks of gestation in this study. We analyzed the sensitivities of NT alone for screening chromosomal aberration using three cut-offs -2.5 mm, 3.0 mm, and 95th percentile for each crown rump length (CRL). There were 31 chromosomal aberrations (1.2%) including 12 cases of trisomy 21. The numbers of chromosomal aberrations that were detected by NT with different cut-offs of 2.5 mm, 3.0 mm and the 95th percentile CRL were 22, 18 and 23, respectively. At a threshold of 2.5 mm, the sensitivity and the false positive rate for total chromosomal aberrations were 67.7% and 6.3%, respectively. At 3.0 mm, those were 54.8% and 3.5%, respectively. At the 95th percentile CRL, those were 70.9% and 5.8%, respectively. The use of CRL-dependent cut-offs for nuchal translucency improves the detection of chromosomal aberrations when compared to fixed cut-offs in a Korean population.

Maternal Serum and Amniotic Fluid Inhibin A Levels in Women who Subsequently Develop Severe Preeclampsia

The purpose of this study was to evaluate whether maternal serum (MS) and amniotic fluid (AF) inhibin A levels are elevated in patients who subsequently develop severe preecalmpsia, and to investigate the correlation between MS and AF inhibin A levels in the second trimester. The study included 40 patients who subsequently developed severe preecalmpsia and 80 normal pregnant women. Inhibin A levels in MS and AF were measured with enzyme-linked immunosorbent assay (ELISA). The MS and AF inhibin A levels in patients who developed severe preeclampsia were significantly higher than those in the control group (both for p<0.001). There was a positive correlation between MS and AF inhibin A levels in patients who developed severe preeclampsia (r=0.397, p=0.011), but not in the control group (r=0.185, p=0.126). The best cutoff values of MS and AF inhibin A levels for the prediction of severe preeclampsia were 427 pg/mL and 599 pg/mL, respectively; the estimated ORs that were associated with these cut-off values were 9.95 (95% CI 3.8-25.9, p<0.001) and 6.0 (95% CI 2.3-15.8, p<0.001). An elevated level of inhibin A in MS and AF at the time of second trimester amniocentesis may be a risk factor for the subsequent development of severe preeclampsia.

Perinatal Outcome in Twin Pregnancies Complicated by Gestational Diabetes Mellitus: A Comparative Study

The purpose of this study is to compare perinatal outcomes of twin pregnancies complicated by gestational diabetes (GDM) with those unaffected by GDM. A total of 1,154 twin pregnancies who delivered at Cheil General Hospital, between January 1998 and December 2002 were recruited to participate in a retrospective analysis. Out of these twin pregnancies, 37 women were had GDM. Four pregnancies exposed to GDM were excluded due to the loss of medical records; therefore 33 twin pregnancies exposed to GDM were enrolled. We matched the GDM pregnancies with pregnancies unaffected by GDM in a 1:2 ratio; therefore there were 33 GDM/66 without GDM who delivered during the study period. Our findings show that there were no significant differences including birth weight, Apgar score, respiratory distress syndrome, meconium aspiration pneumonia, transient tachypnea of new born, hyperbilirubinemia, hypoglycemia, hypocalcemia and congenital anomalies. Therefore, well controlled GDM may not increase perinatal complications in twin pregnancies. Careful pregnancy management and fetal surveillance in twin pregnancies is important to decrease perinatal complications and maintain a sound pregnancy and healthy offspring.

Transcervical embryoscopy in missed abortion / 대한산부인과학회지

OBJECTIVE: Approximately 15-20% of all clinically recognized pregnancies result in spontaneous abortion and 60-70% of these are attributable to detectable chromosome abnormalities. Although the incidence of first trimester losses is high, spontaneous abortion material is often poorly described from a development perspective. The purpose of this study was to determine the usefulness of transcervical embryoscopy in diagnosing localized and generalized defects in the embryonic morphogenesis of missed abortions. The embryoscopic findings are supplemented by the results of cytogenetic analysis in all cases. METHODS: In this study, consisted of 26 women with the final diagnosis of missed abortion between August 1, 2003 and October 31, 2003 in Samsung Cheil Hospital. Prior to the instrumental evacuation of the uterus a rigid hysteroscope was passed transcervically into the amniotic cavity to obtain a detail view of the embryo. Karyotyping was done in all cases included in this study. RESULTS: Visualization of embryo or early fetus was successful in 24 cases. Among 24 examined cases, 21 cases had successful karyotype and as a result 11 (11/21, 52.4%) had abnormal karyotype. Among 21 cases which had successful karyope, 4 (4/21, 19.0%) had normal external features, 10 (10/21, 47.6%) had classified as growth-disorganized and 7 (7/21, 33.3%) had either isolated or multiple defects, including facial dysplasia, delayed limb development, facial fusion to chest, umbilical cyst, brownish discoloration of ventral part and increased nuchal thickness. Of the morphologically normal and growth-disorganized embryo in embryoscopic examination, only 1 and 4 (1/4, 25.0% and 4/10, 40.0%) had a abnormal karyotype. In contrast, of the morphologically abnormal embryo in embryoscopic examination, 5 (5/7, 71.4%) had a abnormal karyotype. CONCLUSION: Transcervical embryoscopy permits visualization of the embryo in utero, unaffected by the damage usually caused by its instrumental evacuation or spontaneous passage. This technique can be a helpful tool for understanding human embryonic malformations and genetic counseling for parents. Futhermore, correlation of morphological and cytogenetic findings in spontaneous abortion specimens could provide the need of further evaluation for future pregnancies in couples which had fear of repeated abortions. But, more larger scaled controlled study is needed for widely use of transcervical embryoscopy in missed abortion.

A Multi-center Study for Birth Defect Monitoring Systems in Korea

The aim of this study was to establish a multi-center birth defects monitoring system to evaluate the prevalence and the serial occurrence of birth defects in Korea. Ten medical centers participated in this program. A trained nurse collected relevant records from delivery units and pediatric clinics in participating hospitals on a monthly basis. We observed 1,537 cases of birth defects among 86,622 deliveries, which included live births and stillbirths. The prevalence of birth defects was 1.8%, and the sex distribution of the birth defect cases was 55.2% male and 41.6% female. The highest proportion of birth defects was in the cardiovascular system (17.5%), followed by birth defects involving in the genitourinary system (15.6%). Chromosomal anomalies were detected 30.0 per 10,000 births. Of these chromosomal anomalies, Down syndrome was most frequently observed. This study led to an establishment of a multi-center active monitoring system for birth defects. To better understand the serial occurrence of birth defects in Korea, it is necessary to increase the number of participating hospitals and to launch on a nation-wide multi-center study.

Ultrasound Screening for Fetal Down Syndrome in the Second Trimester of Pregnancy / 대한산부인과학회잡지

OBJECTIVE: To determine the risk of Down syndrome in fetuses with sonographic markers using the likelihood ratios and individual risk assessment. METHODS: We retrospectively evaluated the midtrimester genetic sonographic features of fetuses with Down syndrome and compared them with euploid fetuses. Patients were referred for an increased risk of aneuploidy and evaluated for the presence of structural defects, a nuchal fold, short long bones, pyelectasis, brachycephaly, small stomach, and hyperechoic bowel. Outcome information included the results of genetic amniocentesis (if performed), the results of pediatric assessment, and follow-up after birth. The sensitivity, specificity, and likelihood ratios for markers ware calculated isolated findings. RESULTS: There were 59 fetuses with Down syndrome and 600 euploid fetuses. The presence of any marker resulted in sensitivity for the detection of Down syndrome of 86.4% with a false-positive rate of 13.6%. Structural defect had a likelihood ratio of 77.8. As an isolated marker, the nuchal fold, short humerus, short femur, echogenic bowel and renal pyelectasia has a likelihood ratio of 20.2, 12.7, 3.9, 2.5, 1.1 respectively. Other isolated markers had low likelihood ratios because of the higher prevalence in the unaffected population. CONCLUSION: Combining second-trimester serum testing and fetal sonography is a feasible approach to Down syndrome screening, compatible with current obstetric practice. Although an isolated marker with a low likelihood ratio may not increase a patient's risk of Down syndrome, the presence of such a marker precludes reducing the risk of aneuploidy. This information will be useful in counseling pregnant women who are at high risk for fetal Down syndrome and who prefer to undergo genetic sonography before deciding about genetic amniocentesis.

Ultrasound Screening for Fetal Down Syndrome in the Second Trimester of Pregnancy / 대한산부인과학회잡지

OBJECTIVE: To determine the risk of Down syndrome in fetuses with sonographic markers using the likelihood ratios and individual risk assessment. METHODS: We retrospectively evaluated the midtrimester genetic sonographic features of fetuses with Down syndrome and compared them with euploid fetuses. Patients were referred for an increased risk of aneuploidy and evaluated for the presence of structural defects, a nuchal fold, short long bones, pyelectasis, brachycephaly, small stomach, and hyperechoic bowel. Outcome information included the results of genetic amniocentesis (if performed), the results of pediatric assessment, and follow-up after birth. The sensitivity, specificity, and likelihood ratios for markers ware calculated isolated findings. RESULTS: There were 59 fetuses with Down syndrome and 600 euploid fetuses. The presence of any marker resulted in sensitivity for the detection of Down syndrome of 86.4% with a false-positive rate of 13.6%. Structural defect had a likelihood ratio of 77.8. As an isolated marker, the nuchal fold, short humerus, short femur, echogenic bowel and renal pyelectasia has a likelihood ratio of 20.2, 12.7, 3.9, 2.5, 1.1 respectively. Other isolated markers had low likelihood ratios because of the higher prevalence in the unaffected population. CONCLUSION: Combining second-trimester serum testing and fetal sonography is a feasible approach to Down syndrome screening, compatible with current obstetric practice. Although an isolated marker with a low likelihood ratio may not increase a patient's risk of Down syndrome, the presence of such a marker precludes reducing the risk of aneuploidy. This information will be useful in counseling pregnant women who are at high risk for fetal Down syndrome and who prefer to undergo genetic sonography before deciding about genetic amniocentesis.