Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study

Purpose@#We assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies. @*Materials and Methods@#This study was conducted as a secondary analysis of data obtained during a multicenter prospective cohort study that investigated the cost-effectiveness of prenatal testing for fetal aneuploidy. We analyzed the prenatal detection rate and accuracy for CHD screening via ultrasound during the second trimester, as well as associations between serum biomarkers and CHDs, in singleton newborns without chromosomal abnormalities. @*Results@#Among 6715 women, 142 (2.1%) newborns were born with CHDs, of which 67 (1.0%) newborns had major CHDs. The prenatal detection rate for all CHDs and major CHDs were 34.5% and 58.2%, respectively. After excluding isolated ventricular septal defects, the detection rate for critical CHDs was 85.9%. Women with low pregnancy-associated plasma protein A (PAPP-A) (<0.4 multiples of the median, MOM) face increased risks of non-chromosomal CHDs [adjusted odds ratio (aOR) 2.76; 95% confidence interval (CI) 1.36–5.13] and major CHDs (aOR 7.30; 95% CI 3.18–15.59), compared to those without CHDs. A higher inhibin A level (≥2.5 MOM; aOR 4.84; 95% CI 1.42–12.46) was associated with non-chromosomal major CHDs. @*Conclusion@#Ultrasonography performed during the second trimester by obstetricians detected over 85% of critical CHDs. Low maternal serum PAPP-A or high inhibin-A was associated with non-chromosomal CHDs. These results may contribute to an improvement in prenatal diagnosis of CHDs.

Perinatal outcome of fetuses with congenital high airway obstruction syndrome: a single-center experience

Objective@#To report our experience with management of fetuses with congenital high airway obstruction syndrome (CHAOS). @*Methods@#We retrospectively reviewed the cases of fetuses who were prenatally diagnosed and postnatally confirmed with CHAOS between 2010 and 2019 at Asan Medical Center, Seoul, Korea. @*Results@#Of 13 fetuses prenatally diagnosed with CHAOS, 7 were lost to follow-up and 6 were postnatally confirmed as having CHAOS. All fetuses, except one were delivered via cesarean section with an ex utero intrapartum treatment (EXIT) procedure. Two patients had coexisting congenital heart diseases requiring several cardiac surgeries following birth. Both of these patients demonstrated developmental delay; however, the remaining 4 had a normal development except for expressive language. Two infants died of respiratory complications, and the remaining 4 were alive at the end of the follow-up period. All 4 live patients underwent tracheostomy with planned reconstruction surgery. Three children are now able to phonate, and 1 can maintain a conservation. @*Conclusion@#The proper management of CHAOS using the EXIT procedure results in high survival and low hypoxemia-induced complication rates. Therefore, an accurate prenatal diagnosis is necessary for an appropriate perinatal management.

Height of elevated fetal buttock for prediction of successful external cephalic version

14 cm, and HOB >7.8 cm were 10.80 (95% confidence interval [CI], 1.57–74.94), 5.26 (95% CI, 1.06–26.19), and 10.50 (95% CI, 1.03–107.12), respectively. Areas under the curve (AUCs) for AFI, HOB, and parity were 0.66 (95% CI, 0.54–0.78), 0.74 (95% CI, 0.64–0.85), and 0.69 (95% CI, 0.62–0.76), respectively. HOB had the largest AUC, but there were no significant differences among the AUCs of other factors. The cut-off value of HOB was 6 cm.CONCLUSION: This study showed that the AUC of HOB was greater than that of parity and AFI, although it was not statistically significant. As HOB is a noninvasive and comprehensive marker to predict successful ECV, consideration of HOB would be helpful before conducting ECV. Further studies are needed.

Treatment of gestational diabetes diagnosed by the IADPSG criteria decreases excessive fetal growth

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

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.

Suggestion for Guidelines of Pregnancy Exposure Registry

About 40% of pregnant women are exposed to one or more kinds of medications including multivitamins during their early pregnancy period. And some of those medications are essential for the mother's health throughout full time of pregnancy. But most of clinical trial for the medicine cannot include the pregnant women because of its uncertain effect on fetus. In this circumstances, the medication can be researched by retrospective study through establishing pregnancy exposure registries. In this study, we aimed to make evidence of fetal safety and risk of many biopharmaceutical products that can help clinician & pregnant women. It is important to enroll the pregnant women who had medication exposure in her early pregnancy without any selective biases. And It should include enough population size and proper data. In addition, pregnancy outcome including the major & minor anomalies of fetus following the exposure of medications in pregnancy must be evaluated by regulated standard guideline. USA & European Union had already published the registry of pregnant women and it really helpful for safe prescription in pregnant women. So It is strongly suggested that this registry will have a great influence on determining the safety and risk of many medications in Korean pregnant women.

Prediction of Amnionicity Using the Number of Yolk Sacs in Monochorionic Multifetal Pregnancy

The purpose of this article was to evaluate the accuracy of predicting amnionicity using the number of yolk sacs by diagnostic ultrasound examination in monochorionic (MC) multifetal pregnancies between 7 + 0 and 9 + 6 gestational weeks. A total of 97 patients with MC multifetal pregnancies underwent early ultrasound examination from 2004 to 2014 at Cheil General Hospital and Women's Healthcare Center. All patients for whom the number of yolk sacs was reported were included in this study. We compared the number of yolk sacs with amnionicity confirmed by an intertwine membrane. Overall, there was a 9.3% (9 cases) discrepancy in number of yolk sacs and amnionicity (4.3% for monochorionic diamniotic, 36.4% for monochorionic monoamniotic, and 33% for monochorionic triamniotic). Among the 9 cases with discrepancies, 4 cases with 2 yolk sacs were confirmed as monoamniotic pregnancies and 4 MC twin pregnancies showing a single yolk sac were diagnosed as diamniotic twin pregnancies. One case with 2 yolk sacs was identified as a triamniotic triplet pregnancy. In 9.3% of MC gestations, the number of yolk sacs was not correlated with the number of amnions in our study. To determine amnionicity in MC multifetal pregnancies, we recommend careful evaluation not of the number of yolk sacs but the presence or absence of intertwine dividing membrane after 8 gestational weeks.

A Case of Spontaneous Twin Anemia-Polycythemia Sequence

Twin anemia-polycythemia sequence (TAPS) is characterized by the transfer of blood via intertwin vascular anastomoses in a single placenta. It differs from twin-twin transfusion syndrome (TTTS) in that amniotic fluid levels remain normal during pregnancy. Since the concept of TAPS was first introduced in 2007, some cases have been reported abroad, but no such a case has been reported in Korea. Here, we report the first case of spontaneous TAPS in Korea.

Myotonic dystrophy diagnosed during the perinatal period: A case series report

Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation allele, especially from the mother. A mother with myotonic dystrophy could be subfertile and the pregnancy could be complicated with the risk of a preterm birth. Newborns with CMD may demonstrate symptoms such as hypotonia and poor motor activity, as well as respiratory and feeding difficulties. Additionally, CMD has a high mortality rate at birth. Detection of the signs and symptoms during pregnancy is helpful for a prenatal diagnosis of CMD in cases where the family history is not known.

Quantitative fluorescent polymerase chain reaction for rapid prenatal diagnosis of fetal aneuploidies in chorionic villus sampling in a single institution

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.

Uterine rupture in pregnancies following myomectomy: A multicenter case series

OBJECTIVE: The purpose of this case series was to retrospectively examine records of cases with uterine rupture in pregnancies following myomectomy and to describe the clinical features and pregnancy outcomes. METHODS: This study was conducted as a multicenter case series. The patient databases at 7 tertiary hospitals were queried. Records of patients with a diagnosis of uterine rupture in the pregnancy following myomectomy between January 2012 and December 2014 were retrospectively collected. The uterine rupture cases enrolled in this study were defined as follows: through-and-through uterine rupture or tear of the uterine muscle and serosa, occurrence from 24+0 to 41+6 weeks' gestation, singleton pregnancy, and previous laparoscopic myomectomy (LSM) or laparotomic myomectomy (LTM) status. RESULTS: Fourteen pregnant women experienced uterine rupture during their pregnancy after LSM or LTM. Preterm delivery of less than 34 weeks' gestation occurred in 5 cases, while intrauterine fetal death occurred in 3, and 3 cases had fetal distress. Of the 14 uterine rupture cases, none occurred during labor. All mothers survived and had no sequelae, unlike the perinatal outcomes, although they were receiving blood transfusion or treatment for uterine artery embolization because of uterine atony or massive hemorrhage. CONCLUSION: In women of childbearing age who are scheduled to undergo LTM or LSM, the potential risk of uterine rupture on subsequent pregnancy should be explained before surgery. Pregnancy in women after myomectomy should be carefully observed, and they should be adequately counseled during this period.

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.

Guidelines for the Diagnosis and Management of Thyroid Disease during Pregnancy and Postpartum / 대한갑상선학회지

No abstract available.

Gestational weight gain is an important risk factor for excessive fetal growth

OBJECTIVE: To estimate the odds ratio of prepregnant body mass index (BMI), gestational weight gain (GWG), and gestational diabetes mellitus (GDM) for excessive fetal growth, which we define as large for gestational age (LGA). METHODS: We included 16,297 women who delivered a live-born singleton baby at term. We fit logistic regressions to estimate the odds ratios of variables, including maternal age, parity, prepregnant BMI > or =23, GWG > or =15 kg, and GDM, for LGA. We classified GWG into four categories ( or =20 kg) and BMI into four categories (underweight, normal, overweight, and obese). After adjusting for age and parity, we analyzed the odds ratios of prepregnant BMI according to GWG between non-GDM and GDM women for LGA. RESULTS: The odds ratios of GWG > or =15 kg and prepregnancy BMI > or =23 for LGA were 2.40 (95% confidence interval [CI], 2.16-2.67) and 2.24 (95% CI, 1.99-2.51), respectively. The odd ratio of GDM was 1.37 (95% CI, 1.09-1.71). The risk of GDM women with normal/-overweight BMI and GWG or =15 kg might be a more important risk factor for LGA than either prepregnancy BMI > or =23 or GDM. Risk for LGA was highest in obese GDM women with GWG > or =15 kg.

Clinical characteristics and outcomes of antenatal fetal intra-abdominal umbilical vein varix detection

OBJECTIVE: This study reviewed clinical characteristics of fetal intra-abdominal umbilical vein (FIUV) varices that were detected during antenatal ultrasound examinations. METHODS: Between January 2006 and January 2012, 121 cases of FIUV varices were detected and 7 cases were lost to follow-up. We retrospectively reviewed the medical records of 114 patients and neonates. RESULTS: From a total 96,553 ultrasound examinations in 43,995 pregnancies, 121 cases of FIUV varices were identified (2.8 per 1,000 pregnancies). Gestational age at diagnosis was 32.0 +/- 2.9 weeks (range, 20.1-36.3 weeks), the mean diameter of the FIUV varix was 12.6 +/- 2.1 mm (range, 8.0-21.0 mm) at initial diagnosis and the mean maximal diameter was 13.1 +/- 2.3 mm (range, 8.0-21.0 mm) during follow-up. The most severe pregnancy complications included one case of intrauterine fetal death and another case of fetal hydrops. Associated fetal anomalies (n = 11, 9.6%) detected by ultrasonography included bilateral renal pelvis dilatation, ventriculomegaly, cryptorchidism, incomplete renal duplication and pulmonary sequestration. A total of 104 cases (91.2%) were delivered at term and 10 cases (8.8%) were preterm deliveries before 37 weeks of gestation. CONCLUSION: FIUV varices that are not associated with fetal anomalies based on ultrasound examination during prenatal care have favorable pregnancy outcomes. Nevertheless, close fetal monitoring is recommended to decrease perinatal complications.

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.

Analysis of Drug Counseling for Breastfeeding Mothers at the Korean Mothersafe Professional Counseling Center; 5 Years Experience / 대한주산의학회잡지

PURPOSE: There is a dearth of information on maternal drug exposure during lactation. The Korean Mothersafe Professional Counseling Center launched helpline to provide information and clinical consultation service on drug safety during lactation as well as in pregnancy. Here, we reviewed our 5 years' experience of counseling with drug exposed breastfeeding mothers. METHODS: The questionnaires were given to drug exposed breastfeeding mothers from January 2005 to April 2010 who contacted our helpline and follow-up survey data was collected by phone call. The questionnaires included lists of symptoms that exposed mothers experienced and that was observed in their infants, as well as demographic questions and questions about lactation. RESULTS: A total of 278 mothers completed the survey and lactational exposure was estimated. Majority of them reported that their infants and themselves never experienced serious side effects of drugs during lactation. Only 3 (1.1%) babies reported side effects and 20 (7.2%) mothers reported decreased production of breast milk. Two hundred thirty two (83.5%) mothers continued breastfeeding after counseling. Lactation was stopped temporarily in 20 (7.2%) mothers and permanently in 26 (9.3%) mothers. CONCLUSION: Most of the drugs exposed during lactation did not cause serious side effects to infants and mothers. As many drugs have inadequate data to assure safety, the clinician is left with a dilemma as to where the balance of risks and benefits lie with respect to the mother and her baby. The author expect that analyses of these counseling will contribute to provide practical answers to clinicians as well as exposed mothers and to establish correct breastfeeding practice.

Twin-to-Twin Transfusion Syndrome: Diagnosis and Managements / 대한주산의학회잡지

Twin-to-twin transfusion syndrome (TTTS) is a severe complication of monochorionic twin pregnancies, characterized by the development of unbalanced chronic blood transfer from one twin, defined as donor twin, to the other, defined as recipient, through placental anastomoses. The incidence of TTTS in monochorionic diamniotic gestations is approximately 10% to 20%. The natural history of severe TTTS is well established with mortality approaching 80% to 100% if left untreated, especially when it presents at less than 20 weeks' gestation. This review presents overview of what is known about the pathophysiology and the diagnosis of TTTS, the markers for early detection of TTTS, treatment options available for TTTS, and complications of treatment for TTTS.

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.

Treatment outcome of uterine compression sutures for massive postpartum hemorrhage / 대한산부인과학회지

OBJECTIVE: Uterine compression sutures such as modified B-Lynch suture or multiple square-shaped sutures of uterine body are simple methods for control of postpartum hemorrhage refractory to medical treatment. We evaluated the treatment outcome and morbidity of uterine compression sutures and analyzed clinical findings of patients undergone uterine compression sutures and postpartum hysterectomy. METHODS: From January 2005 through December 2008, we retrospectively reviewed the medical records of patients undergone uterine compression sutures or postpartum hysterectomy. We analyzed success rates of preserving uterus of uterine compression sutures according to operative indications and mode of delivery and compared maternal characteristics, operative findings, morbidities and mortality with those of postpartum hysterectomy. RESULTS: The frequency of uterine compression sutures for control of massive postpartum hemorrhage was 0.24% (73/30,677). The success rates of preserving uterus were 85.1% in uterine atony, 80.9% in placenta previa, and 40.0% in placenta accreta (P=0.051). The rates of preserving uterus of uterine compression sutures after vaginal delivery and cesarean section were 50.0% and 82.6%, respectively (P=0.164). The frequencies of postoperative morbidities such as disseminated intravascular coagulation, pulmonary edema, ileus were not different between immediate hysterectomy and hysterectomy after uterine compression sutures. There was no maternal mortality. CONCLUSION: Uterine compression suture was successful method for control of postpartum hemorrhage resulting from uterine atony and placenta previa. We suggest the use of uterine compression sutures as the first-line operation for control of postpartum hemorrhage.