A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition

"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental and growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born at 36+4 weeks of pregnancy by caesarian section. Birth weight was 1490g. On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes.

Factors associated with fetal losses after mid-trimester amniocentesis / 대한산부인과학회잡지

OBJECTIVE: To evaluate factors associated with fetal losses following mid-trimester diagnostic amniocentesis. METHODS: 412 pregnancy outcomes following amniocentesis were analyzed for each variables(maternal age, gestational age, indication for the amniocentesis, placental penetration by aspiration needle, needle touch by the fetus, color of amniotic fluid) with statistical methods(student t-test, chi-square test and multiple logistic regression test). RESULTS: Mean maternal age was 31.8+/-4.9 years, fetal loss rate was increased slightly with the age of the mother. If the indications were abnormally high maternal serum alpha-fetoprotein level, the pregnancy courses after the procedure were worse than other indication groups. In cases of discolored amniotic fluid, the dark brown discoloration made the pregnancy outcome poor. Gestational age at the time of the procedure, penetration of the placenta by the aspirating needle, needle touch during the procedure by the fetus, did not influence the outcomes after the procedure. CONCLUSION: Maternal age, indication as neural tube defect in triple test and dark brown discoloration of amniotic fluid are associated with fetal losses following mid-trimester diagnostic amniocentesis.

Hepatitis C Virus Infection in Pregnancy / 대한산부인과학회잡지

OBJECTIVE: Our purpose was to estimate the prevalence of hepatitis C virus seropositivity and define the risk factors for HCV infection in a group of pregnant women and the effect of HCV infection to mother and baby at the time of delivery. METHODS: From March 1997 to February 1998, 5655 women who delivered over 20 gestational weeks at our hospital were screened for HCV-Antibody(RIA), and the samples of most of HCV-Ab positive cases were analyzed for HCV-RNA by polymerase chain reaction(PCR). We also studied the risk factors for HCV infection, the effect of HCV infection to mothers and neonates at delivery. RESULTS: Of 5655 mothers 25 (0.44%) were HCV-Ab positive, and 20 of HCV-Ab positive mothers were analyzed for HCV-RNA by PCR. Of 20 HCV-Ab positive mothers 12 cases (60%) were HCV-RNA positive. Risk factors significantly more prevalent among HCV-seropositive patients were : a history of habitual intraveneous drug use, a history of smoking, alcohol drinking during pregnancy, having liver cirrhorsis. The proportions who had received a blood transfusion, had a history or ongoing syphilis or were positive for hepatitis B virus surface antigen were not significantly different between seropositive and seronegative women. Liver function test at delivery was abnormal in 4 cases(16%) of HCV-Ab positive group. And the number of abnomal liver function test cases in HCV-Ab negative group were 47(0.83%). This had statistical difference. In neonates at delivery, all 20 neonates of 20 ones having HCV-Ab positive mother were HCV-Ab positive. But only 2 cases of 20 babies were HCV-RNA positive. CONCLUSION: Mothers who have risk factors such as injecting drug use, smoking, alchohol drinking and liver cirrhorsis, should undergo HCV-Ab testing and quantitative HCV-RNA testing by PCR. More advanced studies about vertical transmission of HCV infection are needed.

A Clinical Study of Nulliparous Women Aged 40 Years and Older / 대한주산의학회잡지

OBJECTIVE: Our purpose was to compare the pregnancy outcomes of nulliparous women aged 40 years and older with those of nulliparous women under 35 years of age. METHODS: From January 1989 to December 1998 total 57,563 deliveries were seen in Gachon Gil Medical Center. Among them we experienced 59 cases of nulliparas at 40 years and older. These women were compared with 188 young nulliparas under 35 years of age as the control group. The statistical analysis was performed using Chi-square tests, and statistical significance was defined as p<0.05. RESULTS: The incidence rate of elderly nulliparas aged 40 years and older was increased from 0.04% in 1989 to 0.30% in 1998. The age distribution was from 40 years to 45 years. The gravidity of eldery nulliparas was 2.2 in comparison with 1.6 in control group. The incidence of uterine myoma, gestational DM, IUGR and oligohydramnios was significantly high rate in elderly nulliparas. There was significantly high rate of cesarean section in elderly nulliparas(88.1%) in comparison with control group(40.4%). The reasons of cesarean section were her demand(39.0%), CPD(15.3%) and breech presentation(13.6%) in decreasing order. The preterm delivery rate was 10.2% in elderly nulliparas in comparison with 4.3% in the control group. Placenta accreta and uterine atony were significantly high in elderly nulliparas and mean estimated blood loss was also high. There was no difference in 5-minute Apgar score between both group, but there were more cases of neonatal intensive care unit admission in neonates of elderly nulliparas(6.8% vs 0%). CONCLUSION: The incidence of elderly nulliparas is continuously increasing. The elderly nulliparas and their babies are at greater risk than young women. Therefore all elderly nulliparas aged 40 years and older can be regarded as high risk patients and they must be managed with careful attention.

Ultrasonographic Diagnosis of Congenital Hypertrophic Pyloric Stenosis

No abstract available.