• 대한의생명과학회지
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• 제21권1호
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• pp.15-22
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• 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
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• 제52권2호
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• pp.242-246
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• 2009

13번 환염색체 증후군은 정신발달의 지체, 성장 장애, 안면부 기형, 중추신경계 기형, 심장기형, 손발의 기형, 골격계 기형 및 항문기형의 특징을 가진다. 많은 수의 13번 환염색체 증후군에 대한 보고가 있었지만 국내에서는 오직 6예의 임상증례 고가 있다. 이들 보고는 모두 순수한 13번 환염색체 증후군을 보고한 것으로 본 저자들은 13번 환염색체 모자이크 현상의 증례를 경험하였다. 산전진찰 상 자궁내 발육지연이 의심되었던 남아에서 안면부기형이 관찰되었으나 이 외에 이학적 검사상 심장 기형, 골격계 및 외부 생식기 기형은 특별히 관찰되지 않았다. 시행한 세포 유전학 검사상 13번 염색체의 ring/monosomy/dicentric 모자이크 현상이 나타났다. 이후에도 근력저하, 성장과 발달지연을 보이고 있다. 저자들은 안면부 기형, 소두증과 대칭성 자궁내 발육지연을 보인 남아에서 13번 환염색체의 모자이크 증후군을 경험하여 기존에 보고된 다른 증례들과 임상 양상을 비교하여 보고하는 바이다.

• Neonatal Medicine
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• 제25권4호
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• pp.161-169
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• 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
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• 제15권1호
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• pp.1-7
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• 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.

• 한국발생생물학회지:발생과생식
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• 제21권4호
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• pp.351-359
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• 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
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• 제2권1호
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• pp.5-7
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• 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
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• 제48권4호
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• pp.303-310
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• 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
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• 제15권1호
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• pp.67-74
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• 2008

목 적 : 융모막의 종류에 따른 주산기에 미치는 영향과 쌍태아간 수혈 증후군이나 선택적 태아 발육부전이 있는 단일 융모막의 주산기 영향을 평가하였다. 방 법 : 2002년 1월부터 2007년 12월까지 일신기독병원에서 재태 연령 12주에서부터 분만과정까지 산전 진찰을 받고 분만을 한 단일 융모막 산모 99명, 이 융모막 산모 206명, 그리고 이들에게서 태어난 188명의 단일 융모막 쌍생아와 411명의 이 융모막 쌍생아를 대상으로 외래 및 입원 병력 기록지를 후향적으로 조사하였다. 쌍태아간 수혈 증후군과 선택적 태아 발육부전의 빈도 및 융모막 종류에 따른 주산기 영향 및 신생아 이환을 평가하였다. 결 과 : 단일 융모막군은 이 융모막군보다 재태 연령이 작고(35.7 vs 36.6, P=0.03) 태아 사망이 많았다(10% vs 1.5%, P<0.001). 그리고 단일 융모막군의 선택적 발육부전이 이 융모막의 선택적 발육부전보다 태아 사망이 높았다(19% vs 2.5%, P=0.025). 신생아 집중 치료실에 입원한 쌍생아는 단일 융모막 쌍생아가 이 융모막 쌍생아보다(31% vs 16%, P=0.042) 빈도가 높았다. 그리고 단일 융모막 쌍생아가 뇌실 주변 백색 연화증(7% vs 0%; P=0.031), Surfactant를 투여한 신생아호흡곤란 증후군(27% vs 11%; P=0.049)의 빈도가 높았다. 단일 융모막군에서 선택적 자궁 내 발육지연의 빈도는 21%였고 태아 간 수혈 증후군의 빈도는 9%이었다. 일측성 태아 사망은 쌍태아간 수혈 증후군에서는 9명중 6명(67%)이고 선택적 태아 발육부전군에서는 21명중에 4명(19%)으로 단순 단일 융모막군보다 유의하게 높았다(P<0.001). 신생아실에 입원한 빈도는 쌍태아 간 수혈증후군에서 92%, 선택적 태 아발육부전에서 42%로 단순 단일 융모막군의 22%보다 유의하게 높았으며(P=0.001) 입원기간 또한 유의하게 길었다(P=0.033). 그리고 뇌실 주변 백색 연화증 및 뇌실 내 출혈빈도인 경우에도 쌍태아간 수혈 증후군과 선택적 태아 발육부전군이 단순 단일 융모막군보다 유의하게 많았다(각각 P=0.011, P=0.007). 결 론 : 쌍태아 간 수혈 증후군이나 선택적 태아 발육부전이 있는 단일 융모막 쌍생아에서 신생아의 합병증이 높다.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.80-83
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• 2007

고리염색체(Ring chromosome)는 매우 낮은 빈도로 발견되는 염색체 이상으로 모든 번호에서 보고되고 있으며 특히 끝곁 매듭 염색체(acrocentric chromosome)에서 빈번하게 관찰 된다. 본 증례는 ring chromosome(고리염색체)11의 산전진단에 관한 것이다. 산모는 36세의 여성으로 모체혈청검사에서 에드워드 증후군의 표시인자가 증가되어, 태아의 염색체 검사를 위해 임신 19.5주에 양수천자술을 시행하였다. 결과는 46,XX,r(11)[65]/45,XX,-11[16]/46,XX[34]로 고리염색체(ring chromosome) 11이 mosaic으로 관찰되었다. 혈액을 이용한 부모 염색체 검사는 모두 정상이었다. 임신 20주에 실시된 정밀초음파 검사에서는 자궁내성장장애(IUGR) 소견을 보였다. 모자익시즘의 확인을 위해 임신 22주에 재대 혈액을 이용한 두번째 염색체 검사 결과는 46,XX,r(11)(p15.5q24.2)[229]/45,XX,-11 [15]이었으며 첫번째 검사에서 관찰되지 않았던 다양한 형태의 고리염색체(ring chromosome)가 소수의 세포에서 관찰되었다. 고리염색체(ring chromosome)11에 대한 FISH 검사에서는 11 염색체의 장완과 11 염색체의 단완의 subtelomeric 부위가 결실되어 있었다.

• Clinical and Experimental Reproductive Medicine
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• 제30권1호
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• pp.85-93
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• 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.