• Clinical and Experimental Reproductive Medicine
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• v.31 no.4
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• pp.253-260
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• 2004

Objectives: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47, XXY mainly or 46, XX/47, XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47, XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. Materials and Methods: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47, XXY and one 46, XY/47, XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in $6{\sim}7$ cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. Results: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was $65.3{\pm}6.0%$ (mean$\pm$SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X, Y and 17 or 18 was $39.7{\pm}6.9%$. The rate of aneuploidy for sex chromosome (X and Y) was $45.9{\pm}5.3%$ and $43.2{\pm}5.8%$ for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was $2.5{\pm}0.5$. In 2 cases, clinical pregnancies were obtained and normal 46, XX and 46, XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. Conclusion: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.381-387
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• 2006

Purpose : Neonatal lupus is characterized by congenital complete heart block(CCHB), cutaneous rash, and laboratory abnormalities in infants born to mothers with systemic lupus erythematosus(SLE). This study aims to examine the incidence of CCHB and clinical outcome in neonates born to mothers with SLE. Methods : The study group consisted of 49 neonates, born from 57 pregnancies of 55 women with SLE, diagnosed at Hanyang University Hospital for the period between January 1997 and January 2005. Clinical and laboratory data were retrospectively identified from medical record. Results : There were 5(8.8 percent) spontaneous abortions and one(1.8 percent) still births among 57 pregnancies of 55 mothers. Of 49 live births, 15(26.3 percent) were premature and eight(12.3 percent) were small for their gestational age. There was one(1.8 percent) CCHB suspected during pregnancy on fetal echocardiograpy in a fetus of mother with systemic lupus erythematosus and the fetus was not born by artificial abortion because of mother. There was no CCHB among EKG findings of 49 newborns. Laboratory testing showed hematologic abnormalities among 25.6 percent(10/39) of the babies. 5.1 percent(2/39) and 7.7 percent(3/39) of them were diagnosed as neutropenia, and thrombocytopenia was seen respectively. Anti-SSA(Ro) and antiphospholipid antibodies were predictive factors for prematurity(P=0.003, P=0.049). Anticardiolipin antibodies were predictive factors for ventilatory care(P=0.018). Conclusion : The incidence of CCHB among neonates born to mothers with SLE, which was measured in this study, was lower than that in earlier studies. A high incidence of hematologic abnormalities was found in our study. It is suggested that careful examination should be made of skin for the diagnosis of neonatal lupus.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.224-229
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• 2003

Purpose : To examine various neonatal outcomes and perinatal factors resulting from assisted reproduction compared to that of spontaneous conception. Methods : This is a retrospective study. The control cases were all twins of spontaneous conception born between periods from January 1995 to June 2000. The study cases were identified from twins conceived by assisted reproduction in the same time peried. A total of 460 sets of twins consisted of 250 twins of spontaneous conception and 156 twins of assisted reproduction were studied. The primary outcomes were neonatal morbidity and mortality and the secondary outcomes were perinatal factors including number, length and cost of hospitalization for the delivery. Results : No differences were seen in various neonatal factors including gestational age, birth weight and incidences of respiratory distress syndrome, patent ductus arteriosus, necrotizing enterocolitis, hyperbilirubinemia, sepsis, intraventricular hemorrhage and the length of hospitalizations. Lower one minute and five minute Apgar scores and frequently encountered electrolyte abnormalities were observed in neonates of assisted reproduction. In general, the second twin of assisted reproduction had increased incidences of respiratory distress syndrome, sepsis and necrotizing enterocolitis than the first twin. Increased frequencies of preterm labor, hospitalization and elective cesarean section were seen among mothers who underwent artifical conception. However, overall hospital costs in terms of mothers hospitalization for the delivery and neonates hospitalization did not show differences. Conclusion : Assisted reproduction twins had similar neonatal morbidities, mortalities and perinatal morbidities compared to those born by spontaneous conception.

• Clinical and Experimental Reproductive Medicine
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• v.37 no.4
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• pp.339-348
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• 2010

Objective: To investigate the beneficial effect of fragment removal on the subsequent cell division and clinical outcome of the fragmented human embryos. Methods: A prospective study was performed in Hanna Women's Clinic and Mizmedi Hospital. Sixty couples undergoing In vitro fertilization-embryo transfer (IVF-ET) program were participated in the present study. The microsurgical fragment removal was performed in 106 fragmented embryos of 29 patients before the transfer. As a control group, 122 fragmented embryos of 31 patients were transferred without the fragment removal. Effects of fragment removal on morphological changes and clinical outcomes of fragmented embryos were investigated. Results: Mean morphological grade (G2.79) of fragmented embryos was significantly improved after the fragment removal(G1.63, p<0.001). Most of the fragmented embryos did not show a regeneration of fragments after the fragment removal during the subsequent development, and a beneficial effect of fragment removal on the development of the fragment removed embryos was observed. Implantation and pregnancy rates of fragment removed embryos were 12.3% and 31.3%, whereas the rates of control group embryos were 6.6% and 22.5%, respectively. There was no statistical significance in the rates between the two groups because of the low number of trials. Conclusion: Microsurgical fragment removal improved the subsequent development as well as the morphological grade of fragmented embryos. The fragment removal may be beneficial for neighboring blastomeres by repairing the intercellular communication and removing the secretion of the potential toxic materials by fragments.

• The Korean Nurse
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• v.30 no.3
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• pp.49-65
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• 1991

This study was carried out to assess the problems with the pregnant women, and check out the risk-factors in the high-risk pregnancies, using a simplified antepartum risk-scoring system, which was revised from Edwards' scoring system to be suitable for Korean situaition. This instrument was included 4 categories, demographic, obstetric, medical and miscellaneous factors. This survey was based on the 1300 pregnant women who were admitted, $x^2$-test, F-test, Pearsons correation, using statistical package SAS in NAS computer system, KIST. The results of the study were as follows; 1. 1313 infants were deliveried of these 560 infants(42.7%) were born to mothers with risk-scores > 7, and 753 infants(57.3%) were born to mothers risk-scores <7. 2. Maternal age" parity, education level, of the demographic factors were significant relation statistically to identify the high risk pregnancies($X^2$=20.88, 42.87, 15.60 P < 0.01). 3. C-section, post term, incompetent cervix, uterine anomaly, polyhydramnios, congenital anomaly, sensitized RH negative, abortion, preeclampsia, excessive size infant, premature, low birth weight infanl, abnormal presentation, perinatal loss, multiple pregnancy, of the obstetric factors were significant relation statistically to identify the high risk-pregnancies. ($X^2$ = 175.96, 87.5, 16.28, 21.78, 9.46, 8. 10, 6.75, 22.9, 64.84, 6.93, 361.43, 185.55, 78.65, 45.52, P < 0.01). 4. Abnormal nutrition, anemia, UTI, other medicalcondition(pulmonary disease, severe influenza), heart disease, V.D., of the miscellaneous and medical factors, were significant relation statistically to identify the high risk-pregnancies. 5. Premature, low birth weight infant, contracted pelvis, abnormal presentation, of the risk factors were significantly related with Apgar score at 1 '||'&'||' 5 minute after birth and neonatal body weight. 6. Apgar score at 1 '||'&'||' 5 minute after, birth and neonatal body weight were significantly negative correlated with risk-score. 7. There were statistically significant difference between risk-score and Apgar score at 1 '||'&'||' 5 minute after birth, 3 group(0-3, 4-6, above 7), and neonatal body weight, 2 group(below 2.5kg, the other group) (F=104.65, 96.61, 284.92, P<0.01). 8. Apgar score at 1 '||'&'||' 5 minute after birth(below 7), and neonatal body weight(below 2.5kg), were significant relation statistically with risk score.($x^2$=65.99, 60.88, 177.07, P<0.01) were 60.8 %, 60% . 9. Correct classifications of morbid infants(l '||'&'||' 5 minute Apgar score < 7) were 77.8%, 83.8% and that of nonmorbid infants(l '||'&'||' 5 minute Apgar score > 7) were 60.8%, 60%. 10. There were statistically significant difference between dislribution of maternal risk-score among the morbid infants(l '||'&'||' 5 minute Apgar score < 7) and non morbid infants(l '||'&'||' 5 minute Apgar score> 7) ($x^2$=64.8, 58.8, P < 0.001). 11. There were statistically significant difference between distribution of morbid infants(l '||'&'||' 5 minute Apgar score < 7) and fetal death. 12. The predictivity for classifying high.risk cases was 12 % and for classifying low-risk cases was 98.3 % in 5 minute Apgar score. Suggestions for further studies are as follows; 1. Contineous prospective studies, using this newly revised scoring system are strongly recommended in the stetric service. 2. Besides risk facto~s used in this study, assessmenl of risks by factors in another scoring system and paralled studies related to perinatal outcome are strongly recommended.