A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization / 대한진단검사의학회지

Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824-99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature.

The Differences in Second Trimester Quad Test Markers in Patients with Severe Preeclampsia Depending on the Disease Onset Time and the Presence of Fetal Growth Restriction / 대한주산의학회잡지

OBJECTIVE: To compare the differences in the second trimester Quad test markers in patients who subsequently developed preeclampsia depending on the disease onset time and the presence of fetal growth restriction (FGR). METHODS: A retrospective study was carried out on 66 women with severe preeclampsia and 345 controls who were delivered at Dong-A University hospital and Ilsin Christian Hospital from January 2006 to December 2008. Severe preeclampsia patients were grouped according to with (n=30) or without (n=36) FGR. Severe preeclampsia patients were also grouped according to early onset (n=16) or late onset (n=50) The levels of the second trimester human chorionic gonadotropin (hCG), inhibin-A, unconjugated estriol (uE3), alpha-fetoprotein (AFP) were compared in each group. RESULTS: In the pregnancies that subsequently developed severe preeclampsia, the second trimester hCG, inhibin-A and AFP were significantly higher than the controls. We found that levels of hCG, inhibin-A in severe preeclampsia complicated by FGR were significantly higher than those without FGR. We also found that levels of AFP and inhibin-A in early onset severe preeclampsia were significantly higher than late onset severe preeclampsia. CONCLUSION: The levels of second trimester Quad test markers in patients that subsequently developed severe preeclampsia were different according to with or without FGR and onset time.

A Successful Delayed-Interval Delivery without Cerclage Operation after One Fetal Delivery in a Case of Twin Pregnancy / 대한주산의학회잡지

The incidence of multifetal pregnancies has significantly increased because of progress of assisted reproductive technologies. Preterm delivery is the most common and significant obstetrical problem in multifetal pregnancies. When the first twin of mutifetal pregnancy is prematurely delivered at previable gestational age, the success of delayed interval delivery of the second twin can improve the neonatal outcome for the remaining fetus. The optimal management of delayed interval delivery is not defined. Tocolysis, prophylactic antibiotics, and cervical cerclage are generally used. I present a case of delayed interval delivery in twin pregnancy with an interval of 89 days. The first twin was delivered at 21.3 weeks of gestation and delayed delivery of the second twin was succeeded by conservative treatment without cervical cerclage. This case is the longest interval case in Korea.

Discrepancy in cytogenetic results between amniotic fluid cells and other fetal tissues: A case report / 대한산부인과학회지

We present two fetuses who were prenatally diagnosed by amniocentesis as having chromosomal mosaicism but who had a normal karyotype in the fetal blood by cordocentesis. One of the both fetuses had Turner and the other had trisomy 20 mosaicism. The prognosis for Turner mosaicism and trisomy 20 mosaicism diagnosed prenatally has yet to be established. The pregnancy with 45,X/46,XX mosaicism was terminated at 23+3 weeks' gestation. Autopsy findings showed no features of Turner's syndrome. Postnatal cytogenetic analysis revealed 45,X[4]/46,XX[52] mosaicism in skin and 46,XX in the lung tissue. The other fetus had amniocytes with trisomy 20 mosaicism and fetal cord blood cells with a normal karyotype. The baby was delivered at 38+2 weeks' gestation. At birth and 3 months after birth, no apparent abnormal findings were found. These cases with chromosomal discrepancy among various fetal tissues are rare. Two cases were discussed with the review of literature.

Prevalence of HCV infection in pregnant women and vertical transmission / 대한산부인과학회잡지

OBJECTIVE: The HCV seroprevalence rate and the vertical transmission rate in Korean pregnancy women have not been determined until now. The purpose of this study is to estimate the prevalence of anti- HCV in pregnant women and vertical transmission rate to assess the role of antenatal screening of HCV and the necessity of following babies from anti-HCV positive mothers. METHODS: We reviewed the medical records of 21,639 patients who delivered at Ilsin Christian hospital from January 2000 to October 2003. The HbsAg, HbsAb, anti-HCV, HIV test were performed in their 1st trimester of pregnancy and the HCV RNA test was performed by RT-PCR in samples positive for anti-HCV. 38 babies born to anti-HCV positive mothers were tested for anti-HCV and those who were positive anti-HCV were also tested for HCV RNA by PCR. RESULTS: The positive rate of anti-HCV in pregnant women was 0.42% (90/21,639) and that of HCV RNA was 57% (51/90). The positive rate of anti-HCV was 26.3% (10/38) and the result of HCV RNA test was all negative in babies whose mothes were positive for anti-HCV. CONCLUSION: The prevalence of anti-HCV in pregnant women who delivered at our hospital seems to be higher than that in the Korean young adult man and it is similar with the whole world prevalence rate. The prevalence of anti-HCV of babies born to HCV PCR positive mothers was higher than that born to HCV PCR negative mothers. None of anti-HCV positive babies was HCV RNA positive. With this, we conclude that the vertical transmission as the transmission route of HCV infection is negligible but routine screening for HCV is acceptable to pregnant women.

Emergence of YMDD motif mutant hepatitis B virus during long-term lamivudine therapy / 대한내과학회지

BACKGROUND: The emergence of YIDD or YVDD mutant hepatitis B virus (HBV), with point mutation in the YMDD motif of DNA polymerase gene, has been reported in patients with lamivudine treatment group. The aims of this study was to investigate the emergence of mutant HBV during long-term lamivudine therapy using nested polymerase chain reaction (PCR) method and direct DNA sequencing. METHODS: Twenty-one chronic hepatitis B patients with HBeAg and HBV DNA positive were evaluated. During lamivudine therapy, there were reported breakthroughs of HBV DNA (over 50 pg/mL) when investigated the emergence of YMDD mutants by nested PCR method using restriction fragment length polymorphism (RFLP) in all patients. Direct DNA sequencing of HBV DNA polymerase gene including YMDD motif was also performed. RESULTS: There were 13 patients (61.9%) with YIDD mutant and 8 patients (38.1%) with YVDD mutant. The results of direct DNA sequencing were consistent with those of nested PCR data based on RFLP. The breakthrough was occurred at 15 to 106 weeks (57.9+/-23.6). At the point of breakthrough, the level of ALT was 74.8+/-117.7 (14-546) IU/L, and it was lower than the level of ALT before the therapy. CONCLUSION: In the long-term therapy of lamivudine, the emergence of YMDD motif mutant HBV was related to the breakthrough of HBV DNA and YIDD mutant was frequent. The nested PCR method using RFLP may be simple and sensitive to detect the YMDD motif mutant HBV.

Prevalence of Hepatitis G Virus Infection in Patients with Chronic Renal Failure / 대한간학회지

BACKGROUNDS/AIMS: To investigate the prevalence and clinical implications of hepatitis G virus (HGV) infection in patients with chronic renal failure, a cross-sectional study of 131 hemodialysis patients and 33 kidney transplantation recipients was conducted. METHODS: HGV RNA was amplified by reverse-transcription (RT) polymerase chain reaction (PCR) assay with primers from the 5'-untranslated region of the viral genome. RESULTS: The prevalence of HGV infection in patients with chronic renal failure was 25%(41/164). The following factors were taken into consideration: the mean age(43.15+/-11.97 years vs 46.46+/-13.08 years), the male to female ratio(2.15:1 vs 1.86:1), the mean of the dialysis duration(4.58+/-3.18 years vs 3.90+/-3.31 years), transfusion history (75.6% vs 62.6%), the mean of the ALT level during the prior 6 months(25.78+/-21.50 IU/L vs 23.00+/-59.49 IU/L), and the amount of transfusion(6.22+/-8.03 units vs 5.74+/-9.44 units). The anti-HCV(4.88% vs 8.94%) showed no difference between HGV RNA positive and negative group. The HBsAg positive ratio was 19.5% and 5.81% in HGV RNA positive group and negative group, respectively. CONCLUSION: The prevalence of HGV infection in patients with chronic renal failure was 25%. There was a higher rate of HBsAg positivity in the HGV RNA positive group rather than in the negative group. HGV infection did not seem to be associated with clinically significant hepatitis.