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Jin-Chung Shih

Publications and source records attributed to Jin-Chung Shih.

At least 19 recordsLinked to original sources
PubMed2006

Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis.

Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC). TSC is caused by mutations in the genes TSC1 and TSC2. We report a 28-year-old, gravida 5, para 2, woman with an uncomplicated pregnancy until prenatal ultrasound at 34 weeks' gestation revealed fetal cardiac tumors. Ultrafast magnetic resonance imaging (MRI) at 36 weeks' gestation showed cardiac rhabdomyomas and small subependymal tubers. At 39 weeks' gestation, a 2,262 g female infant was delivered uneventfully. Postnatal echocardiography confirmed cardiac rhabdomyomas and MRI verified small cerebral subependymal tubers. Mutational analysis of TSC1 and TSC2 genes using denaturing high-performance liquid chromatography and direct sequencing of the genes was performed and revealed that the parents had wildtype DNA, while the proband was heterozygous for a novel de novo nonsense mutation, c.4830G >A, in exon 36 of the TSC2 gene, resulting in a change of codon 1610 TGG (tryptophan) to TGA (stop codon). The mutation predicted a W1610X premature termination of the tuberin protein. These findings support an association between a TSC2 de novo nonsense mutation and prenatally detected cardiac rhabdomyomas and cerebral tuberous sclerosis. Familial molecular analysis of TSC1 and TSC2 in cases with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis lesions is helpful in prenatal diagnosis and genetic counseling.

Adult↗
PubMed2006

Effect of availability of a parturient-elective regional labor pain relief service on the mode of delivery.

BACKGROUND/PURPOSE: Regional analgesia for labor pain relief is effective and widely used. This study evaluated the controversial association between mode of operative delivery and patient-elective labor regional analgesia. METHODS: We retrospectively compared the rates of instrumental vaginal and cesarean deliveries in parturients before the introduction, in the first 15 months after, and in the subsequent 36 months after the implementation of an elective labor regional analgesia service. A total of 9779 low-risk singleton cephalic pregnancies above 36 weeks of gestation were included. The maternal and fetal outcomes for parturients before the service was implemented and in those with or without pain relief service in the two postimplementation periods were analyzed. Multivariate logistic regression analyses were used to investigate the effects of maternal age, gestational weeks and newborn weight, in addition to regional analgesia, on the mode of delivery in nulliparous women. RESULTS: After adjusting for maternal age, gestational weeks, and newborn weight, no significant association was found between regional analgesia and cesarean delivery in nulliparas. Further, this lack of association was not affected by the receipt of regional analgesia in the early period of program implementation or in the period after staff had become familiar with the service. A higher rate of instrumental vaginal delivery was noted in nulliparas given regional analgesia. CONCLUSION: Regional analgesia for pain relief increased the likelihood of instrumental vaginal delivery, but did not increase the likelihood of cesarean delivery.

Adult↗
PubMed2006

Preservation of uterine integrity via transarterial embolization under postoperative massive vaginal bleeding due to cesarean scar pregnancy.

OBJECTIVE: Cesarean scar pregnancy (CSP) is an uncommon type of ectopic pregnancy. It results in uterine rupture and severe hemorrhage during the proceeding gestation. Whether diagnosed early or not, it may cause maternal mortality or morbidity during emergency management. Life-saving emergency hysterectomy is usually the treatment of choice when there is profuse bleeding intraoperatively or after initial management. CASE REPORT: A 38-year-old woman with a history of two previous cesarean deliveries was referred to our clinic under the impression of CSP at 11 weeks' gestation. A viable embryo with a crown-rump length of 4.8 cm in the anterior wall of the uterus at the cervico-isthmic region was detected. Under the confirmation of CSP via ultrasonography, she was admitted for management. During hysterotomy, profuse bleeding with 1,000 mL blood loss was noted. After conservative procedure for hemostasis, however, massive vaginal bleeding persisted. As a result, we immediately transferred the patient to receive transarterial embolization (TAE) for bleeding control. The patient was discharged 4 days after the operation and TAE and her period resumed 1 month later. CONCLUSION: Management of CSP is usually accompanied by profuse blood loss. Hysterectomy is inevitable if massive blood loss occurs during surgical intervention. For preservation of fertility and avoidance of mortality, our physicians offered an alternative life-saving policy even under catastrophic blood loss.

Adult↗
PubMed2006

Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening.

BACKGROUND: Chromosomal abnormality in one fetus of a monozygotic twin pregnancy is rare, and discussion of prenatal detection of such a case offers some insight into this clinical problem. CASE: A 28-year-old gravida 1 had ultrasound screening at 11 weeks of gestation that revealed a monochorionic, diamniotic twin pregnancy with increased nuchal translucency (7.7 mm) in one fetus. Subsequent evaluation showed one 45,XY,-21 karyotype and one normal male karyotype. The pregnancy was monozygous by DNA analysis. The affected neonate died 5 minutes after delivery of both twins by cesarean. CONCLUSION: Monochorionic twins discordant for fetal abnormalities can be evaluated with molecular analysis. Study of such cases may reveal the extent to which an early diagnosis can lead to therapeutic interventions to support survival of the viable twin.

Adult↗
PubMed2005

Temporary balloon occlusion of the common iliac artery: new approach to bleeding control during cesarean hysterectomy for placenta percreta.

A case of placenta percreta was referred at 31 weeks' gestation. We performed a cesarean hysterectomy preceded by placement of occlusive balloon catheters at bilateral common iliac arteries at 34 weeks' gestation. This simple and safe technique provides satisfactory efficacy for control of profuse bleeding during operation, with blood loss estimated at 800 mL.

Adult↗
PubMed2005

Spatio-temporal image correlation (STIC): innovative 3D/4D technique for illustrating unique and independent information and diagnosing complex congenital heart diseases.

AIM: To assess whether four-dimensional (4D) spatiotemporal image correlation (STIC) can provide unique and novel information for diagnosing complex congenital heart diseases. METHODS: A dynamic interactive 4D ultrasound system was used to examine 21 fetuses with complex congenital heart diseases and 25 fetuses with no apparent anomalies referred for prenatal diagnosis and management. Data acquisition was achieved by an automatic sweep device capable of image capture across the entire fetal heart and thorax. An offline analysis of the acquired volume was carried out to examine the fetal cardiac anatomy with multiplanar mode and surface rendering. A simplified "spin" technique was used to evaluate the outflow tracts of the fetal heart. Results. Successful acquisition was possible in all 46 fetuses. STIC volume datasets were displayed interactively as a series of 3 orthogonal planes, with the ability of the examiner to control the pivot point, rotational axis, and parallel shift of each image plane inside the volume. The reformatted slices or surface-rendered images allowed the visualization of certain structures and projections not demonstrated with conventional fetal echocardiography. The information derived from STIC was either beneficial (8 patients) or crucial (5 patients) for establishing the diagnosis of congenital heart diseases in the study group. Conclusions. This study demonstrated that the 4D STIC could provide unique and independent information from the routine use of fetal echocardiography that served for diagnosis of complex congenital heart diseases.

Echocardiography, Four-Dimensional↗
PubMed2004

Prenatal diagnosis of mosaic trisomy 16 associated with congenital diaphragmatic hernia and elevated maternal serum alpha-fetoprotein and human chorionic gonadotrophin.

OBJECTIVES: To present the clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 16. CASE: A 30-year-old gravida 2, para 1 woman was referred for amniocentesis because of a positive maternal serum screen result with elevated maternal serum alpha-fetoprotein (MSAFP) and maternal serum free beta-human chorionic gonadotrophin (MSfreebeta-hCG). Cytogenetic analysis of amniotic fluid at 21 weeks' gestation revealed mosaicism for trisomy 16, 47,XX,+16[3]/46,XX[15]. Ultrasonography demonstrated right diaphragmatic hernia and agenesis of left umbilical artery. The pregnancy was terminated subsequently. The karyotype of the cord blood was 46,XX. Cytogenetic analyses of the multiple sampled tissue specimens showed a karyotype of 47,XX,+16 in the placenta and 47,XX,+16/46,XX with various levels of trisomy 16 in the umbilical cord and skin. Molecular studies showed that the trisomy 16 in the placenta was likely to have resulted from a maternal meiosis II nondisjunction error. Partial dosage increase of an extra maternal allele was noted in the skin and umbilical cord. CONCLUSION: Fetuses with mosaic trisomy 16 may be associated with congenital diaphragmatic hernia and elevated MSAFP and MShCG. Fetal blood sampling is of a limited value in confirming mosaic trisomy 16 ascertained through amniocentesis.

Abortion, Induced↗
PubMed2004

Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy.

We report a patient whose chorionic villus sampling showed a nonmosaic trisomy 13 [46,XX,der(13;13)(q10;q10)]. Subsequent amniocentesis and cordocentesis showed varying percentages of abnormal cells (77 and 78% in two amniocentesis; 14% in cordocentesis) and mosaic trisomy 13 was impressed. Prenatal fetal ultrasound scanning revealed only mild structural abnormalities (echogenic cardiac foci, transient lemon head, transient skin oedema). The mother chose to continue the pregnancy. Karyotyping of the cord blood, peripheral blood, umbilical cord, urine, and chorion were performed postpartum. The process of correction appeared to exist in the placenta (indirect evidence from coexistence of trisomy 13 [46,XX,der(13;13)(q10,q10)], euploidy [46,XX], aneuploidy [46,XX,-13, +mar], and monosomy 13 [45,XX,-13] in the chorion at birth). The baby had survived beyond eight months of age at the time of submission. Few structural abnormalities except low-set ears, absence of the 12th rib, and cardiomegaly with ventricular septal defect, were noted postnatally. The growth reached 95th percentile at the age of one month. Development milestones were not delayed at serial evaluations. Her ventricular septal defect was corrected surgically at the age of six months. Karyotypes of her skin fibroblasts, blood lymphocytes, and cardiac tissue were all normal [46,XX] at the time of surgery. Difficulties of the genetic counseling are also discussed.

Adult↗
PubMed2002

Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion.

OBJECTIVES: To present the prenatal diagnosis and perinatal findings of partial trisomy 9p and distal 12p deletion. METHODS AND RESULTS: Amniocentesis was performed at 17 gestational weeks due to a balanced reciprocal translocation t(9;12)(p11.2;p13.3) in the mother. The father's karyotype was normal. The family had a 5-year-old daughter with a Dandy-Walker malformation and a trisomy 9p syndrome. Cytogenetic analysis of the cultured amniotic fluid cells revealed a 46,XY,der(12)t(9;12)(p11.2;p13.3)mat karyotype with partial monosomy 12p(12pter-->p13.3) and partial trisomy 9p(9pter-->p11.2). Sonographic examination of the fetal brain and skull showed bilateral ventriculomegaly, brachycephaly and a Dandy-Walker malformation with an enlarged cisterna magna and absence of the cerebellar vermis. The pregnancy was terminated subsequently. At autopsy, the proband manifested agenesis of the cerebellar vermis and a typical trisomy 9p phenotype. CONCLUSION: Fetuses with partial trisomy 9p(9pter-->p11.2) may present a Dandy-Walker malformation and ventriculomegaly on prenatal ultrasound in the second trimester. A dosage effect of genes located on 9pter-->p11.2 may be associated with the abnormal development of the central nervous system in patients with partial or complete trisomy 9.

Adult↗