• Biomedical Science Letters
• /
• v.21 no.1
• /
• pp.15-22
• /
• 2015

Dexamethasone, a synthetic glucocorticoid (GC), is clinically administered to woman at risk for premature labor to induce fetal lung maturation. However, exposure to repeated or excess GCs leads to intrauterine growth restriction (IUGR) and subsequently increases risk of psychiatric and cardio-metabolic diseases in later life through fetal programming mechanisms. GCs are key mediators of stress responses, therefore, maternal nutrient restriction or psychological stress during pregnancy also causes negative impacts on birth and neurodevelopment outcome of fetuses, and other congenital defects, such as craniofacial and skeletal abnormalities. In this study, to examine the effect of prenatal stress on fetal skeletal development, dexamethasone (1 mg/kg [DEX1] or 10 mg/kg [DEX10] maternal body weight per day) was administered intraperitoneally at gestational day 7.5~9.5 and the skeletons were prepared from embryos at day 18.5. Seven out of eighteen (39%) embryos treated with DEX10 showed axial skeletal abnormalities in either the T13 or L1 vertebrae. In addition, examination of the sternum revealed that xiphoid process, the protrusive triangular part of the lower end of the sternum, was bent more outward or inward in DEX group embryos. In conclusion, our findings suggest a possible link to the understanding of the effect of uterine environment to the fetal skeletal features.

• Clinical and Experimental Pediatrics
• /
• v.52 no.2
• /
• pp.242-246
• /
• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Neonatal Medicine
• /
• v.25 no.4
• /
• pp.161-169
• /
• 2018

Purpose: We assessed the influence of antenatal corticosteroid (ACS) on the inhospital outcomes of intrauterine growth restriction (IUGR) infants. Methods: A retrospective study was conducted with singletons born at $23^{+0}$ to $33^{+6}weeks$ of gestation at Seoul National University Hospital from 2007 to 2014. We compared clinical outcomes between infants who received ACS 2 to 7 days before birth (complete ACS), at <2 or >7 days (incomplete ACS), and those who did not receive ACS in IUGR and AGA infants. Multivariate logistic regression using Firth's penalized likelihood was performed. Results: 304 neonates with 91 IUGR neonates were eligible. Among AGA neonates, mortality (adjusted odds ratio [aOR], 0.13; 95% confidence interval [CI], 0.02 to 0.78), hypotension within 7 postnatal days (aOR, 0.20; 95% CI, 0.06 to 0.64), and severe bronchopulmonary dysplasia (BPD) or death (aOR, 0.24; 95% CI, 0.07 to 0.77) were lower in complete ACS group after adjusting for pregnancy induced hypertension and uncontrolled preterm labor. Mortality (aOR, 0.18; 95% CI, 0.04 to 0.78), hypotension (aOR, 0.26; 95% CI, 0.09 to 0.70), and severe BPD or death (aOR, 0.33; 95% CI, 0.12 to 0.92) were also lower in the incomplete ACS group. Among IUGR infants, after adjusting for birth weight and 5-minute Apgar score, inhaled nitric oxide use within 14 postnatal days was lower in both complete ACS (aOR, 0.07; 95% CI, 0.01 to 0.67) and incomplete ACS (aOR, 0.04; 95% CI, 0.01 to 0.37) groups. Conclusion: ACS was not effective in reducing morbidities in IUGR preterm infants.

• Journal of Genetic Medicine
• /
• v.15 no.1
• /
• pp.1-7
• /
• 2018

Sonographic findings with little or no pathological significance, known as soft markers, are often found in aneuploidy fetuses. After normal screening for the aneuploidy in first trimester, there are no uniform recommendations regarding when to disregard or put on clinical significance in isolated soft markers. Associations between some soft markers and adverse pregnancy outcomes including intrauterine fetal death, preterm birth, fetal growth restriction, and congenital infection have been reported in euploidy fetuses. The present article aims to review recent literatures about the clinical significance of soft markers after normal first trimester combined screening or noninvasive prenatal testing, and propose a simple clinical summary for management of specific soft markers in pregnancies.

• Development and Reproduction
• /
• v.21 no.4
• /
• pp.351-359
• /
• 2017

Implantation is a highly organized process that involves an interaction between a receptive uterus and a competent blastocyst. In humans, natural fecundity suggests that the chance of conception per cycle is relatively low (~30%) and two-third of lost pregnancies occur because of implantation failure. Defective implantation leads to adverse pregnancy outcomes including infertility, spontaneous miscarriage, intrauterine fetal growth restriction and preeclampsia. With use of advanced scientific technologies, gene expression analysis and genetically-engineered animal models have revealed critical cellular networks and molecular pathways. But, because of ethical restrictions and the lack of a mechanistic experiment, comprehensive steps in human implantation have still not been completely understood. This review primarily focuses on the recent advances in mechanisms of implantation. Because infertility is an emerging issue these days, gaining an understanding the molecular and hormonal signaling pathway will improve the outcome of natural pregnancy and assisted reproductive technology.

• Journal of mucopolysaccharidosis and rare diseases
• /
• v.2 no.1
• /
• pp.5-7
• /
• 2016

Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose-6-phosphate recognition marker is not synthesized onto lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase ML II, recognizable at birth, often causes intrauterine growth impairment and sometimes the prenatal "Pacman" dysplasia. The main postnatal manifestations of ML II include gradual coarsening of neonatally evident craniofacial features, early cessation of statural growth and neuromotor development, dysostosis multiplex and major morbidity by hardening of soft connective tissue about the joints and in the cardiac valves. Fatal outcome occurs often before or in early childhood. ML III with clinical onset rarely detectable before three years of age, progresses slowly with gradual coarsening of the facial features, growth deficiency, dysostosis multiplex, restriction of movement in all joints before or from adolescence, painful gait impairment by prominent hip disease. Cognitive handicap remains minor or absent even in the adult, often wheelchair-bound patient with variable though significantly reduced life expectancy. As yet, there is no cure for individuals affected by these diseases. So, clinical manifestations and conservative treatment is important. This review aimed to highlight the extra-skeletal clinical problems in ML II and III.

• Clinical and Experimental Reproductive Medicine
• /
• v.48 no.4
• /
• pp.303-310
• /
• 2021

Decorin (DCN) is a proteoglycan belonging to the small leucine-rich proteoglycan family. It is composed of a protein core containing leucine repeats with a glycosaminoglycan chain consisting of either chondroitin sulfate or dermatan sulfate. DCN is a structural component of connective tissues that can bind to type I collagen. It plays a role in the assembly of the extracellular matrix (ECM), and it is related to fibrillogenesis. It can interact with fibronectin, thrombospondin, complement component C1, transforming growth factor (TGF), and epidermal growth factor receptor. Normal DCN expression regulates a wide range of cellular processes, including proliferation, migration, apoptosis, and autophagy, through interactions with various molecules. However, its aberrant expression is associated with oocyte maturation, oocyte quality, and poor extravillous trophoblast invasion of the uterus, which underlies the occurrence of preeclampsia and intrauterine growth restriction. Spatiotemporal hormonal control of successful pregnancy should regulate the concentration and activity of specific proteins such as proteoglycan participating in the ECM remodeling of trophoblastic and uterine cells in fetal membranes and uterus. At the human feto-maternal interface, TGF-β and DCN play crucial roles in the regulation of trophoblast invasion of the uterus. This review summarizes the role of the proteoglycan DCN as an important and multifunctional molecule in the physiological regulation of oocyte maturation and trophoblast migration. This review also shows that recombinant DCN proteins might be useful for substantiating diverse functions in both animal and in vitro models of oogenesis and implantation.

• Neonatal Medicine
• /
• v.15 no.1
• /
• pp.67-74
• /
• 2008

Purpose : The purpose of this study was to assess the natural history and perinatal outcomes of twin gestations according to chorionicity. Methods : We retrospectively reviewed the medical records of 99 monochorionic (MC) and 206 dichorionic (DC) twin gestations delivered at Il Sin Christian Hospital in Busan between January 2002 and December 2007. The incidences of twin-to-twin transfusion syndrome (TTS) and selective intrauterine growth restriction (sIUGR), as well as perinatal morbidity and mortality, were evaluated. Results : MC twins had a lower gestational age (35.7 vs. 36.6 weeks, P=0.03) at birth and a higher incidence of intrauterine fetal loss (10% vs. 1.5%, P<0.001) than DC twins. The incidence of intrauterine fetal loss was higher in MC sIUGR than in DC sIUGR (19% vs. 2.5%, P=0.025) twins. The number of admissions to the neonatal intensive care unit (NICU; 31% vs. 16%, P=0.042), and the incidence of periventricular leukomalacia (7% vs. 0%, P=0.031), and respiratory distress syndrome with surfactant treatment (27% vs. 11%, P=0.049) were higher in MC than DC twins. The incidences of sIUGR and TTS were 21 and 9% among the MC twins. The incidences of intrauterine fetal loss were higher in MC twins with TTS [6 of 9 (67%)] or sIUGR [4 of 21 (19%)] than uncomplicated MC twins (P<0.001). The frequency of admission to the NICU (P=0.001), the length of hospital stay (P=0.033), the prevalence of periventricular leukomalacia (P=0.011), and intraventricular hemorrhage (P=0.007) were also higher in MC with TTS or sIUGR than in uncomplicated MC twins. Conclusion : The incidence of neonatal complications was higher in MC twins, especially those gestations complicated by TTS or sIUGR.

• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.80-83
• /
• 2007

A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

• Clinical and Experimental Reproductive Medicine
• /
• v.30 no.1
• /
• pp.85-93
• /
• 2003

Objective : To evaluate the safety and efficacy of selective fetal reduction (SFR) and compare the outcome of twin pregnancy after SFR in multiple pregnancy induced by assisted reproductive technology (ART) with that of natural twin pregnancy. Methods : From September 1995 to March 2002 in Ajou University Hospital, SFR was performed in 79 patients whose gestational sacs were more than 3. Of these 79 patients, 47 patents resulted in twin pregnancy after SFR. SFR was performed using transvaginal intracardiac KCl injection at gestational age of $6{\sim}9$ weeks. Control group was composed of 264 patients with natural twin pregnancy, who delivered after intrauterine pregnancy at 24 weeks, from June 1994 through December 2002. We compared Obstetric and perinatal outcomes between SFR group and natural twin group. Results: Among 47 patients with twin pregnancy after SFR, 2 spontaneous abortion were occurred at intrauterine pregnancy at 8 and 19 weeks. Obstetrical and perinatal outcomes were available in 43 patients. Single intrauterine fetal death was occurred in 1 of 43 (2.3%) patients in SFR group. Incidence of preterm labor, premature rupture of membrane, preeclampsia and placenta previa were similar, but gestational diabetes mellitus (GDM) was occurred more frequently in SFR group (3 (7.0%) vs 4 (1.5%), p=0.02). Mean gestational age, mean birth weight, incidence of discordancy, use of intubation and ventilation, incidence of fetal anomaly, low (<7) Apgar score and intrauterine growth restriction were similar in both groups. Conclusion: Twin pregnancy after SFR has the increased incidence for GDM but other obstetric and perinatal outcome was similar compared with natural twin pregnancy. So SFR is a safe and effective procedure, so we suggest SFR is needed in multifetal pregnancy more than triplet.