A case of de novo ring (13) chromosome with deletion 13q32.2-->qter / 대한산부인과학회잡지

We report a case of ring chromosome 13 with a distal deletion of 13q32.2-->qter observed in a fetus who was referred to our institution at term due to severe growth restriction and multiple congenital malformations on ultrasonographic examination.This boy was born by vaginal delivery at 39 weeks in gestation. His weight, head circumference and height were less than the 3 percentile of gestational age. Apgar score was 7 at 1 minute and 9 at 5 minutes. He showed microcephaly, large forehead, low set ears, hypertelorism, flat nasal bridge, and micrognathia. The genitalia was ambiguous, showing severe hypoplasia of the penis. The anus was ectopic, displaced anteriorly from its normal position but with a normal opening and function. Neurologic examination was normal. Echocardiogram done at 2 weeks of life showed a persistent foramen ovale and a ventriculoseptal defect (type II) with increased pulmonary hypertension. MRI examination of the brain showed poorly demarcating corpus callosum suspecting agenesis of corpus callosum. Also, cerebellar vermis was small and hypoplastic, mimicking a variant form of Dandy-Walker malformation. MRI of the pelvis showed a tubular structure in pelvic cavity, suspicious of uterine remnant, between urinary bladder and rectum, and a inguinal hernia was noted in the left side. In the abdominal cavity enlarged adrenal glands were noted, and hormonal study showed elevated 17-alpha-OH-progesterone (168.9 ng/ml) with normal 17-KS and 17-OHCS levels. Gastrointestinal and urogenital system were otherwise normal. Cytogenetic analysis of the parents were both normal but the newborn showed 46, XY, r (13), de novo, with deletion points q32.2-->qter. Our findings are in line with previous reports about chromosome 13 deletions, in which loss of the "critical point" leads to major malformations like brain anomalies and ambiguous genitalia.

A Case of Twin Pregnancy with One Anencephalic Fetus / 대한산부인과학회잡지

Congenital anomalies occur in 2-3% of neonates but this incidence increases in multiple pregnancies, especially when fetuses are monozygotic. when pregnancies are affected with one anomalous fetus combined to a normal one, the proper management and counseling is difficult.We experienced a twin pregnancy in which one anencephalic fetus was combined to a normal one. Karyotype analysis was normal in both fetus. After close counseling we decided to continue the pregnancy. Intermittent amnioreduction was done for persistent polyhydramnios. At 29 weeks of gestation membrane was ruptured prematurely and we delivered by cesarean section due to breech-cephalic presentation. The birth weight of the normal and anencephalic fetuses were 1070 gm and 1050 gm, respectively. The anencephalic fetus died immediately after birth but the healthy one showed good crying and movement and its Apgar score was 6 in 1 minute and 8 in 5 minute. Although the infant needed intensive care for 90 days in the nursery room finally discharged in good condition. We report a case of twin pregnancy in which anencephaly was associated with a normal fetus, so after close counseling we opted to continue the pregnancy resulting in the delivery of a viable fetus.

A case of false positive amniotic acetylcholinesterase in a normal pregnancy / 대한산부인과학회잡지

Maternal serum alpha-fetoprotein (AFP) has been used for a long time for the prenatal diagnosis of neural tube defects in women at midtrimester of gestation. But AFP is elevated not only in cases of neural tube defects, but also in fetus with congenital nephrosis, abdominal wall defects, fetal demise, low birth weight or simply erroneously calculated gestational age. So, when maternal serum AFP is increased, gestational age of the fetus must be re-evaluated and targeted ultrasonographic evaluation is indicated to rule out neural tube defects. If NTDs are suspected or ultrasound is non-diagnostic, amniotic fluid AFP are measured and when AF-AFP is elevated, the presence or absence of acetylcholinesterase should be evaluated. The detection rate of open neural tube defects using amniotic acetylcholiesterase is reported to be as high as 96 to 99% with a 0.06% and 0.14% of false positive rate in amniotic fluids non-contaminated and contaminated by blood, respectively. We report a case with elevated mid-trimester MS-AFP, AF-AFP and positive amniotic acetylcholin-esterase, but in which repeated sonographic findings were normal, and result in delivery of a heathy baby without anomalies.

A case of false positive amniotic acetylcholinesterase in a normal pregnancy / 대한산부인과학회잡지

Maternal serum alpha-fetoprotein (AFP) has been used for a long time for the prenatal diagnosis of neural tube defects in women at midtrimester of gestation. But AFP is elevated not only in cases of neural tube defects, but also in fetus with congenital nephrosis, abdominal wall defects, fetal demise, low birth weight or simply erroneously calculated gestational age. So, when maternal serum AFP is increased, gestational age of the fetus must be re-evaluated and targeted ultrasonographic evaluation is indicated to rule out neural tube defects. If NTDs are suspected or ultrasound is non-diagnostic, amniotic fluid AFP are measured and when AF-AFP is elevated, the presence or absence of acetylcholinesterase should be evaluated. The detection rate of open neural tube defects using amniotic acetylcholiesterase is reported to be as high as 96 to 99% with a 0.06% and 0.14% of false positive rate in amniotic fluids non-contaminated and contaminated by blood, respectively. We report a case with elevated mid-trimester MS-AFP, AF-AFP and positive amniotic acetylcholin-esterase, but in which repeated sonographic findings were normal, and result in delivery of a heathy baby without anomalies.

A case of Edward syndrome with radius aplasia / 대한산부인과학회잡지

Trisomy 18 is the second most common chromosomal anomaly that reach to live birth after Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels using total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol (uE3), or free beta hCG with AFP, but the serum screening has only 50-60% detection rate with a 1-2% of false positive rate. So to cover the limitations that serum marker has, detailed ultrasound examination is also necessary and sensitivities of 65-70% were reported. We report a case of trisomy 18 fetus in which second trimester triple markers of maternal serum was normal, but by detailed ultrasound examination, unilateral radius aplasia was diagnosed cytogenetic study confirmed the fetus as trisomy 18.

Influence of Hepatocyte Growth Factor on its Receptor (c-met) expression and Invasion in HT Cell Line / 대한산부인과학회잡지

OBJECTIVE: To evaluate the invasive capacity of trophoblastic cells when treated with HGF, and see whether HGF induces c-met expression in vitro. METHODS: HT cell line was treated with recombinant HGF (rHGF) at different concentrations (0, 10, 50 and 100 ng/mL) and cultured for 24 hours. To evaluate according different time of culture, HT cell line was pre-treated with 50 ng/mL rHGF and cultured for 24, 36, 48 and 72 hours. We analyzed the expression of c-met mRNA using reverse transcriptase-polymerase chain reaction and the expression of c-met protein using western blot in each samples. We also observed cellular invasion capacity through the invasion assay under a microscope and confirmed 72 kDa gelatinase and 92 kDa gelatinase expression patterns by zymography assay. RESULTS: The expressions of c-met mRNA and protein were increased in all concentrations of rHGF, compared with that of normal control although it was not in dose-dependent fashion. In invasion assay, the number of invaded HT cells were increased in dose-dependent fashion, compared with that of normal control. In zymography ssay, the expression of 72 kDa gelatinase was increased in dose-dependent fashion, compared with the control. However, 92 kDa eglatinase was not detected in any studied group. CONCLUSION: These results suggests that HGF might be related to upregulation of trophoblast cell invasiveness by activation of c-met and subsequent induction of 72 kDa gelatinase.

The differences of fetal heart rate according to fetal sex / 대한산부인과학회잡지

OBJECTIVES: The purpose of this study is to analyze the previously unreported effect of fetal sex on the fetal heart rate and to measure its magnitude in relation to the effects of other independent clinical variables. METHODS: Three hundred and seventeen pregnant women who were able to provide electronic fetal heart rate monitoring were evaluated. On the basis of fetal sex after birth, 167 pregnant women who delivered male neonate were for males group and 146 examples who delivered female neonate were for female group. We analyzed fetal heart rate data using the Catholic Computer Assisted Obstetric Diagnosis System(CCAOD). RESULTS: Female fetuses had significantly faster basal heart rate(140.51+/-12.43bpm) than male fetuses(137.64+/-13.68 bpm).(P=0.007) Percent acceleration time(PAT) increased significantly for males(6.10+/-4.00bpm), comparing to females(4.90+/-3.34bpm).(P=0.001) Also percent deceleration time(PDT) was significantly higher in male fetuses(7.50+/-8.70bpm) than female fetuses(6.18+/-7.70bpm).(P=0.039) But there was no differences in standard deviation(SD)(8.84+/-10.11bpm, 8.11+/-3.56bpm), long term variation(LTV)(80.38+/-62.79msec, 73.65+/-54.60msec), and short term variation(STV)(14.06+/-9.79msec, 13.33+/-12.32msec) between male and female fetuses. CONCLUSION: The fetal heart rate of female fetuses differ from that of male fetuses. Computerized linear analysis and nonlinear analysis of antepartum fetal heart rate will need to take into account the multiple factors that influence the fetal heart rate to identify precisely which pattern predict clinical outcome.