• Journal of Yeungnam Medical Science
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• 제38권1호
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• pp.60-64
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• 2021

Cushing syndrome (CS) is rare in pregnancy, and few cases have been reported to date. Women with untreated CS rarely become pregnant because of the ovulatory dysfunction induced by hypercortisolism. It is difficult to diagnose CS in pregnancy because of its very low incidence, the overlap between the clinical signs of hypercortisolism and the physiological changes that occur during pregnancy and the changes in hypothalamus-pituitary-adrenal axis activity that occur during pregnancy and limit the value of standard diagnostic testing. However, CS in pregnancy is associated with poor maternal and fetal outcomes; therefore, its early diagnosis and treatment are important. Here, we report two patients with CS that was not diagnosed during pregnancy, in whom maternal and fetal morbidity developed because of hypercortisolism.

• Journal of Genetic Medicine
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• 제11권2호
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• pp.56-62
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• 2014

Purpose: To assess the outcomes of increased fetal nuchal translucency (NT), to aid in prenatal counseling and management in our practice. Materials and Methods: We retrospectively reviewed the medical records of patients who underwent first trimester fetal karyotyping using chorionic villi sampling (CVS) and second trimester level II sonography for a fetal NT thickness ${\geq}3.0mm$ between 11 weeks and 13 weeks 6 days' gestation, at Gyeongsang National University Hospital. Pediatric medical records and a telephone interview were used to follow-up live-born children. Exclusion criteria included incomplete data and CVS for other indications. Results: Seventy cases met the inclusion criteria (median NT thickness, 4.7 mm; range, 3.0-16.1 mm). Twenty-nine cases (41.4%) were aneuploid. The prevalence of chromosomal defects increased with NT thickness: NT 3.0-3.4 mm, 16.7%; NT 3.5-4.4 mm, 27.3%; NT 4.5-5.4 mm, 66.7%; NT 5.5-6.4 mm, 37.5%; NT ${\geq}6.5mm$, 62.5%. The most common karyotype abnormality was trisomy 18 (n=12), followed by trisomy 21 (n=9). In chromosomally normal fetuses (n=41), fetal death occurred in 2 cases (4.9%), and structural malformations were found in 11 cases (26.8%). In chromosomally and anatomically normal fetuses (n=28), one child had neurodevelopmental delay (3.6%). Twenty-eight infants who had a prenatal increased NT were alive and well at follow-up (40%). Conclusion: Outcomes of increased fetal NT might help inform prenatal counseling and management. The high prevalence of chromosomal defects associated with increased fetal NT implies that CVS should be performed in the first trimester, particularly considering the stress associated with an uncertain diagnosis.

• 한국간호교육학회지
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• 제24권4호
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• pp.463-477
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• 2018

Purpose: This study identifies correlations among information needs and knowledge about prenatal genetic screening and diagnosis (I-PGSD & K-PGSD), and attitude toward terminating pregnancy (ATP) among pregnant women in South Korea. Methods: A descriptive survey was conducted from January 2013 to April 2014 in South Korea. 222 pregnant women responded to three questionnaires developed by the authors. The questionnaire for I-PGSD consisted of 19 questions; 18 questions for K-PGSD; and 10 questions for ATP. Results: Mean scores were $80.46{\pm}11.73$ for I-PGSD; $14.86{\pm}3.74$ for K-PGSD; and $33.71{\pm}6.13$ for ATP. The ATP score was positively correlated with the I-PGSD and K-PGSD scores, but statistically significant with only I-PGSD (p=.006). I-PGSD scores were higher than average on three genetic syndromes (Down, Patau, and Edwards syndrome), on management after the diagnosis of positive fetal aneuploidy, and on test result interpretation after the amniocentesis and level II fetal ultrasonogram. Conclusions: In light of current legal and moral controversy regarding terminating pregnancy and rapidly advancing prenatal genetic testing technology, more prenatal genetic education for nurses and nursing students who teach pregnant women is needed. In addition, more professional counseling services provided by trained nurses are also required.

• Journal of Genetic Medicine
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• 제12권2호
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• pp.79-84
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• 2015

Purpose: We developed and validated a fetal trisomy detection method for use as a noninvasive prenatal test (NIPT) including a Clinical Laboratory Improvement Amendments (CLIA)-certified bioinformatics pipeline on a cloud-based computing system using both Illumina and Life Technology sequencing platforms for 221 Korean clinical samples. We determined the necessary proportions of the fetal fraction in the cell-free DNA (cfDNA) sample for NIPT of trisomies 13, 18, and 21 through a limit of quantification (LOQ) test. Materials and Methods: Next-generation sequencing libraries from 221 clinical samples and three positive controls were generated using Illumina and Life Technology chemistries. Sequencing results were uploaded to a cloud and mapped on the human reference genome (GRCh37/hg19) using bioinformatics tools. Based on Z-scores calculated by normalization of the mapped read counts, final aneuploidy reports were automatically generated for fetal aneuploidy determination. Results: We identified in total 29 aneuploid samples, and additional analytical methods performed to confirm the results showed that one of these was a false-positive. The LOQ test showed that the proportion of fetal fraction in the cfDNA sample would affect the interpretation of the aneuploidy results. Conclusion: Noninvasive chromosome examination (NICE), a CLIA-certified NIPT with a cloud-based bioinformatics platform, showed unambiguous success in fetus aneuploidy detection.

• 여성건강간호학회지
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• 제22권2호
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• pp.71-77
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• 2016

Purpose: This study was a comparative study to understand the levels of anxiety, pain and maternal-fetal attachment between women who became pregnant after infertility treatment and became pregnant naturally. Methods: This study used a comparative survey design. Data were collected by 50 couples of natural pregnancy and of who became pregnant after infertility treatment who visited delivery room in C Medical hospital, Seoul. These couples were to have first baby, and cervix dilatation of women was less than 3 cm regardless of diagnosis. Results: The score of anxiety of infertile women was significantly higher than that of naturally pregnant women; however, that of spouses showed no difference. The pain score for infertile women was significantly higher in both the active and transition phases. Pain scores that reported by their spouses did not show differences in either phase. The score of maternal-fetal attachment showed no difference between two groups of women. Conclusion: The result showed the importance of nursing intervention to reduce women's anxiety and pain, through both antenatal-childbirth education programs and assertive nursing interventions. It is necessary to develop and evaluate new intervention which would be more effective for reducing pain and anxiety for couples who became pregnant after infertility treatment.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.72-78
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• 2018

Purpose: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for fetal aneuploidy including non-invasive prenatal testing (NIPT) in South Korea. Materials and Methods: Questionnaires were distributed and collected at several obstetrics-gynecological conferences and meetings. The questionnaire included 31 multiple choice and 5 fill-in-the-blank questions. Seven questions requested physicians' demographic information, 17 questions requested information about the NIPT with cell-free fetal DNA, and 12 questions requested information about general prenatal screening practices. Results: Of the 203 obstetricians that completed the survey. In contrast with professional guidelines recommending the universal offering of aneuploidy screening, only 53.7% answered that prenatal aneuploidy testing (screening and/or invasive diagnostic testing) should be offered to all pregnant women. Physicians tended to have positive attitudes toward the clinical application of NIPT as both primary and secondary screening methods for patients at high-risk for fetal trisomy. However, for patients at average-risk for fetal trisomy, physicians tended to have positive attitudes only as a secondary screening method. Physicians with more knowledge about NIPT were found to tend to inform their patients that the detection rate of NIPT is higher. Conclusion: This is the first study to investigate expert opinion on prenatal screening in South Korea. Education of physicians is essential to ensure responsible patient counseling, informed consent, and appropriate management after NIPT.

• Clinical and Experimental Reproductive Medicine
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• 제21권3호
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• pp.335-339
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• 1994

Combined intrauterine and extrauterine pregnancy is rare, occuring 1 in 30,000 pregnancies. The early diagnosis of combined pregnancy is very difficult, and so there is a higher maternal morbidity and fetal loss. Recently the incidence of combined pregnancy is increased. We experienced a case of combined intrauterine and right tubal pregnancy, and this case was presented with a brief review of the literatures.

• 대한구순구개열학회지
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• 제15권2호
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• pp.83-88
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• 2012

Macroglossia is a relatively uncommon condition that occurs in pediatric patients for several reasons and contributes to variety of functional problems. Most of macroglossia arises from tissue overgrowth and tongue muscle hypertrophy. There are no definite guideline in prenatal management or diagnosis in this conditions. However, macroglossia is often associated with syndrome or congenital disease, prenatal diagnosis is important in early detection. There are difficulty in measurement of tongue size, and standardization. Macroglossia can be risky in some aspects, such as airway obstruction. In this review, the author suggest prenatal ultrasonographic findings of macroglossia, investigate differential diagnosis of conditions associated with macroglossia, and management in clinical situation. Macroglossia, when present, can cause a number of functional and aesthetic problems for individuals. Treatment of this problem is challenging and controversial.

• Clinical and Experimental Reproductive Medicine
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• 제24권3호
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• pp.393-398
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• 1997

Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization (FISH) in the chromosome analysis has made the precise evaluation of chromosome aberrations. The prevalence of balanced chromosomal translocation carriers were 3.74% (104/2783 patients). 70 cases (2.52%) were reciprocal translocation carriers and 34 (1.22%) had Robertsonian translocations. Chromosome aberrations were more frequent in women (73 cases) than in men (31 cases). No phenotypical abnormalities were found in all carriers, but they experienced abnormal reproductive outcomes such as recurrent spontaneous abortions, anomalous offsprings or infertility problem. Prenatal diagnosis was carried out on 36 subsequent pregnancies in balanced translocation carriers. The fetal karyotypes showed that 12 cases (33%) were normal, 22 (61%) were balanced translocations, and two (6%) were unbalanced translocations. It is concluded that the prevalence of balanced chromosomal translocations in patients with abnormal reproductive outcome is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal diagnosis, individuals with balanced translocations are predisposed to abnormal offspring with partial trisomy or monosomy. Therefore we recommend that genetic counselling and cytogenetic prenatal diagnosis for translocation carriers have to be offered to prevent recurrent chromosomal abnormal babies.

• Clinical and Experimental Pediatrics
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• 제50권3호
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• pp.268-271
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• 2007

목 적 : 태아 순환에서 난원공은 제대정맥의 혈류가 좌심방으로 가는 단락 역할을 하며 심박출량의 46%에 이른다. 산전에 좌심형성부전, 대동맥 판막 폐쇄, 승모판 폐쇄 및 협착증 등의 선천성 심기형과 동반된 난원공 조기 협착은 비교적 흔하며 출생 후의 경과에도 중요한 영향을 미칠 수 있다. 그러나 자궁 내에서 난원공 협착 혹은 폐쇄가 선천성 심기형 없이 발생하는 경우는 매우 드물다. 산전의 난원공 협착 혹은 폐쇄는 우심실부전, 태아수종, 삼첨판역류, 좌심폐쇄성질환, 상심실성빈맥 등의 임상소견을 보일 수 있고, 이는 태아의 사망률 혹은 유병률에 영향을 미칠 수 있으므로 조기 진단 및 치료가 매우 중요하다. 방 법 : 충남대학교병원에서 2001년 1월부터 2005년 6월까지 태아 심초음파검사에서 자궁 내 난원공의 협착으로 진단받은 5명을 대상으로 하였다. 자궁 내 난원공 협착의 진단기준은 4강면에서 난원공의 최대직경이 2.5 mm 이하, 그리고 난원공에서 측정한 도플러검사에서 연속파이며 0.6 m/s 이상인 경우로 하였다. 산모의 임신력, 주소, 태아심초음파검사 소견과 출생 후의 임상경과를 조사하였다. 결 과 : 태아 난원공 협착의 진단 시 태아의 재태연령은 34-37주였고, 내원 시 주소는 태아 부정맥이 2례, 엡스타인 기형 의증, 심낭삼출, 좌심형성부전이 각각 1례였다. 출생시 재태연령은 36-40주였다. 동반기형은 관찰되지 않았다. 태아수종과 상심실성 빈맥증으로 진단된 2례는 응급으로 분만하였고, 태아수종 환아는 호흡부전이나 가사는 없었고, 심폐 소생술이나 인공호흡기 등의 치료가 필요하지는 않을 정도의 경도였고, 상심실성 빈맥증 환아는 분만 후 심방조동이 발생하여 심장율동전환 후 동조율로 전환되었고, 그 후 디곡신 1개월 사용 후 중단하였다. 출생 후 시행한 심초음파검사에서 5례 모두에서 우심실과 우심방 비대가 관찰되었고, 생후 7일경에 시행한 심초음파검사에서 우측 심장의 확장은 정상화되었다. 결 론 : 태아 난원공 협착은 아주 드물지 않으며 부가적인 심장내외의 이상을 보여 예후에 영향을 줄 수 있다. 심부전이나 태아수종 등의 위험성이 있을 경우 조기 분만하여 태아의 사망률과 유병률을 줄일 수 있다.