OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared. RESULTS: A total of 383 pregnant women underwent QF-PCR and LTC via CVS during the study period and 403 CVS specimens were collected. The indications of CVS were as follows: abnormal first-trimester ultrasonographic findings, including increased fetal nuchal translucency (85.1%), advanced maternal age (6.8%), previous history of fetal anomalies (4.2%), and positive dual test results for trisomy 21 (3.9%). The results of QF-PCR via CVS were as follows: 76 (18.9%) cases were identified as trisomy 21 (36 cases), 18 (33 cases), or 13 (seven cases), and 4 (1.0%) cases were suspected to be mosaicism. All results of common autosomal trisomies by QF-PCR were consistent with those of LTC and there were no false-positive findings. Four cases suspected as mosaicism in QF-PCR were confirmed as non-mosaic trisomies of trisomy 21 (one case) or trisomy 18 (three cases) in LTC. CONCLUSION: QF-PCR via CVS has the advantage of rapid prenatal screening at an earlier stage of pregnancy for common chromosomal trisomies and thus can reduce the anxiety of parents. In particular, it can be helpful for pregnant women with increased fetal nuchal translucency or abnormal first-trimester ultrasonographic findings.
Aneuploidy* ; Anxiety ; Chorion* ; Chorionic Villi Sampling* ; Chorionic Villi* ; Cytogenetic Analysis ; Diagnosis ; Down Syndrome ; Female ; Fluorescence ; Hospitals, General ; Humans ; Maternal Age ; Medical Records ; Mosaicism ; Nuchal Translucency Measurement ; Parents ; Polymerase Chain Reaction* ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis* ; Retrospective Studies ; Trisomy

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.
Chromosome Aberrations ; Down Syndrome ; Epidemiology ; Female ; Humans ; Maternal Age ; Medical Records ; Pregnancy ; Pregnant Women* ; Retrospective Studies ; Risk Factors ; Trisomy*

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.
Angiogenesis Inducing Agents ; Endometrium ; Female ; Humans ; Lipoproteins ; Plasma ; Pre-Eclampsia ; Pregnancy ; Pregnancy Trimester, Third ; Stem Cells ; Tyrosine ; Vascular Diseases ; Vascular Endothelial Growth Factor A

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.
Acetaminophen ; Chlorpheniramine ; Chronic Disease ; Congenital Abnormalities ; Counseling ; Female ; Fetal Death ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Korea ; Maleates ; Parturition ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Premature Birth ; Pseudoephedrine ; Risk Assessment

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.
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase ; Abortion, Spontaneous ; Alleles ; Aneuploidy ; Child ; Down Syndrome ; Female ; Ferredoxin-NADP Reductase ; Fetus ; Genotype ; Humans ; Intellectual Disability ; Methionine ; Mothers ; Odds Ratio ; Oxidoreductases ; Pregnancy ; Risk Factors

OBJECTIVE: To assess the fetal loss rate among dichorionic twin gestations undergoing genetic amniocentesis compared with singletons undergoing the procedure and untested twins. METHODS: From January 2002 through December 2004, total 132 pregnant women with dichorionic twin gestation with mid-trimester amniocentesis at Hospital were included in this study. In control group, 595 women with untested dichorionic twins during the same period and 402 women with singleton pregnancies with amniocentesis performed by the same physician at the same date of study group were selected. Excluded were fetuses with known structural anomalies, cases in which amniocentesis was done in only one fetus, and cases of which pregnancies were terminated due to fetal chromosomal abnormalities. Fetal loss was defined as the loss of both fetuses and subdivided into two categories: within 4 weeks after amniocentesis and before 28 gestational weeks. RESULTS: Up to 4 weeks after the procedure, one case (0.75%) in the tested twin group, two cases in post-procedure singleton group (0.49%, P=.729), and eight cases in the untested twin control group (1.34%, P=.581) were aborted spontaneously. Up to 28 gestational weeks, four fetal losses occurred in post-amniocentesis twins (3.03%), sixteen cases in untested twins (2.69%, P=.83), and two cases in the singleton pregnancies with amniocentesis (0.49%, P=.017). CONCLUSION: The risk of fetal loss in twin underwent mid-trimester amniocentesis appears to be higher than that of tested singletons in this study. However, there was no significant difference in the fetal loss rates between amniocentesis twin group and untested twin group.
Amniocentesis* ; Chromosome Aberrations ; Female ; Fetus ; Humans ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnancy, Twin* ; Pregnant Women

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.
Twins ; Treatment Outcome ; Retrospective Studies ; Pregnancy, Multiple ; Pregnancy Outcome ; Pregnancy ; Humans ; Female ; Diseases in Twins ; Diabetes, Gestational/*pathology/*therapy ; Adult

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.
Risk Factors ; Pregnancy Trimester, Second ; Pregnancy Outcome ; Pregnancy ; Pre-Eclampsia/*blood/*metabolism ; Middle Aged ; Maternal Age ; Inhibins/*biosynthesis/*blood ; Humans ; Gestational Age ; Female ; Case-Control Studies ; Amniotic Fluid/*metabolism ; Amniocentesis ; Adult

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.
Adult ; *Chromosome Aberrations ; Chromosome Disorders/diagnosis ; Comparative Study ; Female ; Fetal Diseases/*diagnosis/genetics ; Humans ; Mass Screening/methods ; Nuchal Translucency Measurement/*methods ; Pregnancy ; Sensitivity & Specificity

OBJECTIVE: The Purpose of this study was to evaluate monochorionicity as a risk factor for adverse perinatal outcomes in spontaneously conceived twins. METHODS: Using an established database, the study included pregnant women with spontaneously conceived twin gestations between January 1998 and December 2002. From a total of 1145 twin deliveries, 371 spontaneous twin pregnancies were observed in Department of Obstetrics and Gynecology in Samsung Cheil Hospital and Women's Healthcare Center. Chorionicity was established by histologic examination and divided into two groups, monochorionic (diamnionic and monoamnionic) twins (MC) and dichorionic diamnionic twins (DC). The obstetric and neonatal outcomes were compared between the two groups. RESULTS: There were 176 MC and 195 DC twin deliveries following natural fertilization. The incidence of intrauterine growth restriction was significantly higher (16.4% vs. 5.4%, P<.001) in MC twins. However, there were no statistically significant differences in the frequency of antepartum or intrapartum complications such as preterm delivery, preeclampsia, placenta previa and gestational diabetes mellitus between the two groups. In addition, there were no statistically significant difference in the frequency of neonatal complications, congenital anomalies, Apgar scores, perinatal mortality, morbidity and duration of neonatal intensive care unit admission. CONCLUSION: When compared with DC twin group, MC twin group is more likely to have a higher incidence of intrauterine growth restriction in natural fertilization. However, monochorionicity is not a risk factor for adverse obstetric outcomes, perinatal mortality and morbidity in spontaneously conceived twins in our study.
Chorion ; Delivery of Health Care ; Diabetes, Gestational ; Female ; Fertilization ; Gynecology ; Humans ; Incidence ; Infant, Newborn ; Intensive Care, Neonatal ; Obstetrics ; Perinatal Mortality ; Placenta Previa ; Pre-Eclampsia ; Pregnancy ; Pregnancy, Twin ; Pregnant Women ; Risk Factors