Publications (208)400.68 Total impact
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Article: Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester.
Taiwanese journal of obstetrics & gynecology 09/2012; 51(3):481-484. -
Article: Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes.
Taiwanese journal of obstetrics & gynecology 09/2012; 51(3):475-480. -
Article: Maternal ascites after thoracoamniotic shunting.
Prenatal Diagnosis 08/2012; 32(8):815. · 2.11 Impact Factor -
Article: Should array CGH be applied to all routine prenatal care?
Prenatal Diagnosis 07/2012; 32(7):710; author reply 711-2. · 2.11 Impact Factor -
Article: Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father.
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ABSTRACT: To present second-trimester ultrasound and molecular diagnosis for osteogenesis imperfecta (OI) type I in a female fetus and incidental identification of a dominant COL1A1 deletion mutation in her paucisymptomatic father. A 30-year-old, primigravid woman was referred for genetic counseling in the second trimester because of bowing of the fetal lower limbs. She and her husband were non-consanguineous, and there was no family history of skeletal dysplasias. Prenatal ultrasound at 22 weeks of gestation revealed short and curved right femur and left tibia, and a short left fibula. The lengths of other long bones were normal. The husband was 158 cm tall, had blue sclerae, a history of habitual subluxation and dislocation of bilateral elbows and left knee, and an episode of left ulna fracture, and was not aware of his being affected with OI type I. The woman underwent amniocentesis. Cytogenetic analysis revealed a karyotype of 46,XX. Molecular analysis of the amniocytes revealed a heterozygous deletion mutation of c.1064_1068delCTGGT in exon 17 of the COL1A1 gene. By genetic testing the husband was found to carry the same mutation. Despite counseling of favorable outcome for OI type I with the parents, the woman elected to terminate the pregnancy. Postnatal skeletal X-ray findings were consistent with OI type I. Prenatal ultrasound diagnosis of mild forms of OI should include molecular analysis of type I collagen genes in both fetus and parents. Molecular genetic analysis of the family may incidentally identify a collagen gene mutation in the paucisymptomatic affected parent.Taiwanese journal of obstetrics & gynecology 06/2012; 51(2):276-9. -
Article: Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome.
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ABSTRACT: To present molecular diagnosis and genetic counseling for osteogenesis imperfecta (OI) type IV in a pregnancy carried to term with favorable outcome. A 34-year-old, primigravid woman was referred for genetic counseling in the second trimester because of advanced maternal age and a positive family history of OI type IV. Her husband had a weight of 40 kg and a height of 145 cm. Her husband had normal sclerae, moderate short stature and osteopenia, and had sustained multiple fractures with minimal trauma since childhood. The husband and his relatives including his mother, aunt, uncle, sister and nephew had suffered from OI type IV. Molecular analysis of the affected individuals in the family revealed a G to T change at position c.2197 (c.2197G>T, GGT>TGT) of the exon 37 in the COL1A2 gene leading to a change of glycine at codon 733 to cysteine (G733C). Cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XY. Molecular analysis of uncultured amniocytes revealed a missense mutation of G733C in COL1A2. Level II ultrasound at 23 weeks of gestation revealed significant shortness of the limbs. Small stature for gestation age was obvious in the third trimester. At 37 weeks of gestation, a fetal ultrasound showed curvature of the femurs. A cesarean section was performed at 38 weeks of gestation, and a male baby was delivered uneventfully. The baby had normal sclerae, a body weight of 2190 g (< 5(th) centile) and a body length of 46 cm (< 5(th) centile). X-rays showed thin clavicles and short curved femurs but no bony fractures. No fractures were noted at the age of 1 month. The present case adds to previous examples of favorable outcome in pregnancies with non-lethal forms of OI.Taiwanese journal of obstetrics & gynecology 06/2012; 51(2):271-5. -
Article: Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II.
Taiwanese journal of obstetrics & gynecology 06/2012; 51(2):308-11. -
Article: Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene.
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ABSTRACT: To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type III short rib-polydactyly syndrome (SRPS) (Verma-Naumoff). A 34-year-old woman with no past history of fetal SRPS was referred to the hospital at 21 weeks of gestation because of sonographic diagnosis of short limbs in the fetus. Fetal ultrasound revealed a narrow thorax, short ribs, short limbs with marginal spurs, and postaxial hexadactyly in both the hands and feet. A diagnosis of SRPS III (Verma-Naumoff) was made. Amniocentesis was performed. The karyotype was 46,XY. Molecular genetic analysis of the amniotic fluid cells identified a homozygous splice site mutation in intron 4 (c.331-1 A > G) or IVS4-1 A > G in the NEK1 gene. The parents were heterozygous for the mutation. The pregnancy was subsequently terminated and a malformed fetus was delivered with prominent forehead, a flattened nasal bridge, a narrow and short trunk, a protuberant abdomen, bilateral postaxial polydactyly and syndactyly of the hands and feet, and micromelic limbs. No facial cleft or genital abnormality was noted. The radiograph was consistent with SRPS III. Polydactyly, micromelia, metaphyseal spurs, widened humeral metaphyses, and shortened ribs can be prominent prenatal ultrasound findings of SRPS III. The present case provides evidence for a correlation of a mutation in the NEK1 gene with SRPS III.Taiwanese journal of obstetrics & gynecology 06/2012; 51(2):266-70. -
Article: Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements.
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ABSTRACT: To present molecular cytogenetic characterization of an inverted duplication with terminal deletion of 10q, or inv dup del(10q) in a fetus with two concurrent chromosomal rearrangements. A 39-year-old woman underwent amniocentesis at 20 weeks of gestation because of advanced maternal age. Amniocentesis revealed a der(10) with additional material at the end of the long arm of chromosome 10, a der(9) and a der(22). Parental karyotypes were normal. A de novo unbalanced complex chromosomal rearrangement (CCR) was diagnosed by conventional cytogenetics, but the breakpoints could not be defined. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. Postnatal analysis of fetal tissues using spectral karyotyping, fluorescence in situ hybridization, multicolor banding, and array-comparative genomic hybridization identified an inv dup del(10q) with an inverted duplication of 10q25.1→q26.2 and a terminal deletion of 10q26.2→qter, and a balanced reciprocal translocation between chromosomes 9 and 22. Microsatellite analysis determined a paternal origin of the inv dup del(10q). The karyotype of the fetus was 46,XX,t(9;22)(p23;q13),der(10)del(10)(q26.2) dup(10)(q26.2q25.1)dn. A de novo inv dup del(10q) can be associated with a concurrent de novo balanced reciprocal translocation and should be differentiated from an unbalanced CCR by molecular cytogenetic techniques.Taiwanese journal of obstetrics & gynecology 06/2012; 51(2):245-52. -
Article: Intraperitoneal and intracardiac transfusion of recurrent fetal erythroblastosis due to anti-M alloimmunization with unfavorable outcome.
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ABSTRACT: To present intensive intrauterine treatment of recurrent early onset fetal erythroblastosis due to anti-M alloimmunization. A 33-year-old woman, gravid 3, para 1, had anti-M IgG antibody, which caused alloimmunization of her previous pregnancies. This time she visited our hospital for intensive intervention. No evidence of fetal hydrops was found during ultrasound examination at 12 weeks of gestation. Plasmapheresis was given from 17 weeks of gestation but fetal erythroblastosis still developed 1 week later. Two intraperitoneal transfusions and one intracardiac transfusion were given within three days but fetal erythroblastosis still progressed to fetal bradycardia and occasional asystole. Epinephrine resuscitation could only temporarily improve the fetal heart rate and fetal death was inevitable. Serial measurements of fetal middle cerebral artery peak systolic velocities, advanced plasmapheresis, intrauterine blood transfusion, and, if needed, intravenous immunoglobulin supplement, may be the appropriate treatment for early onset fetal erythroblastosis resulting from alloimmunization.Taiwanese journal of obstetrics & gynecology 06/2012; 51(2):253-5. -
Article: Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception.
Taiwanese journal of obstetrics & gynecology 06/2012; 51(2):305-7. -
Article: Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II.
Taiwanese journal of obstetrics & gynecology 06/2012; 51(2):312-4. -
Article: Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium.
Taiwanese journal of obstetrics & gynecology 06/2012; 51(2):315-8. -
Article: Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system.
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ABSTRACT: To assess the diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) by using high-resolution melting (HRM) analysis and a clinical scoring system. Genetic variations in the 18 coding exons were prescreened using HRM analysis and then confirmed by direct sequencing. To establish a scoring system, clinical features of 20 patients with NICCD diagnosed in Taiwan between the years 2000 and 2008 were compared with those of 47 patients with biliary atresia and 35 with infantile cholestasis. Eight types of mutations/polymorphisms were identified in patients with NICCD, including 5 mutations in the coding region or splice site (c.851del4, c.1638ins23, R553Q, IVS6+5G > A, IVS11+1G > A), and 3 single-nucleotide polymorphisms (IVS11+17C > G, IVS4+6A > G/rs6957975, and c.1194A > G/rs2301629). The 3 hotspot mutations (c.851del4, c.1638ins23, and IVS6+5G > A) comprised 33/35 (94.3%) mutated alleles. The patients with NICCD had a higher frequency of the rs6957975 polymorphism compared with 103 healthy controls (P < .0001). A 6-point scoring system was proposed according to clinical parameters. The patients with NICCD tended to score ≥4 points, whereas biliary atresia and other infantile cholestasis tended to score <4 points (P < .0001). HRM analysis was efficient and effective in detecting mutations. Three common mutations comprised the majority of mutations found in our patients. The IVS4+6A > G polymorphism was associated with NICCD. A scoring system may help to differentiate patients with NICCD from those with biliary atresia.The Journal of pediatrics 05/2012; 161(4):626-631.e2. · 4.02 Impact Factor -
Article: Maternal-reported behavioral and emotional problems in Taiwanese preschool children.
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ABSTRACT: There has been limited epidemiologic information concerning preschoolers' behavioral and emotional problems in Eastern societies. This study was therefore aimed to investigate behavioral and emotional problems in a large sample of Taiwanese preschoolers using the Child Behavior Checklist for Ages 1.5-5 (CBCL/1.5-5). The CBCL/1.5-5 was scored by mothers of 645 Taiwanese preschoolers aged 24-71 months. Psychometric features of the scale as well as the raw scores and prevalence rates of behavioral problems of Taiwanese preschoolers were compared with those of American counterparts. Several demographic variables with the Total Problems and syndromes scores were also examined. The CBCL/1.5-5 was found to have good to excellent levels of reliability (internal consistency, test-retest reliability and inter-parent agreement) and an acceptable model fit of seven-syndrome factor structure (root mean square error of approximation=0.055) when used with Taiwanese preschoolers. The prevalence rate of Total Problems, Internalizing syndrome and Externalizing syndrome score in the clinical range was 25.1%, 11.2% and 25.4%, respectively. Cross-cultural comparisons showed that Taiwanese preschoolers had higher scores in six narrow-band syndromes (effect size d=0.17-0.43, all p's<0.005) and prevalence rates of four Internalizing-related syndromes and Sleep Problems than American sample (odds ratio=2.4-4.9, all p's<0.005). Analyses of behavioral correlates revealed associations of first birth order with higher Internalizing, Externalizing and Total Problems scores (all p's<0.05). Furthermore, younger ages (24-47 months) and male gender were associated with higher Externalizing and Total Problems scores (all p's<0.05). Our data have provided important epidemiologic information to assist in clinical assessment and management of preschoolers' behavioral and emotional problems in an Eastern society.Research in developmental disabilities 05/2012; 33(3):866-73. · 4.41 Impact Factor -
Article: A nationwide survey of risk factors for stillbirth in Taiwan, 2001-2004.
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ABSTRACT: The purpose of this study was to evaluate the nationwide stillbirth rate and explore the potential risk factors associated with stillbirths. Data from vital registrations during the time period from January 1, 2001 through to December 31, 2004 in Taiwan were used. Stillbirth was defined as fetal death with more than 20 completed weeks' gestational age (GA) or with birth weight more than 500 g if the GA was not known. There were a total of 8481 stillbirths identified nationwide between January 1, 2001 and December 31, 2004. The stillbirth rate was nine per 1000 total births in the study period, and the proportionate decline was nearly 48.8% in the most recent decade. There was a significant increase in average maternal age during this period. Advanced maternal age and teenage pregnancy were independent significant risk factors for stillbirths even after accounting for the effects of medical conditions that were more likely to occur among these particular age groups. Those fetuses that had been exposed to cord prolapse, maternal cervical incompetence and oligohydramnios/polyhydramnios were especially vulnerable. By contrast, women who had foreign nationality, fetal ultrasound surveys, fetal heart beat monitoring and hastened parturition were less likely to have stillbirth. The stillbirth rate in Taiwan has remained high despite advancements in medical care. Prenatal evaluation of high risk women may decrease the adverse fetal outcomes.Pediatrics & Neonatology 04/2012; 53(2):105-11. · 0.75 Impact Factor -
Article: Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.
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ABSTRACT: To explore the genetic characteristics of branchio-oto-renal (BOR) syndrome in an East Asian population. Prospective clinical genetic study. Twelve families (total of 18 patients) who fulfilled the criteria for BOR syndrome were enrolled in this study. Mutation screening of the EYA1, SIX1, and SIX5 genes was performed by direct sequencing and quantitative polymerase chain reaction, and genotype-phenotype correlation was investigated. Two novel EYA1 variants, c.466C>T (p.Q156X) and c.1735delG (p.D579fs), were identified in two multiplex families. The c.466C>T variant resulted in a truncated EYA1 protein, whereas the c.1735delG variant was predicted to encode an EYA1 protein with an abnormal C terminal. Neither variant was identified in a panel of 100 normal controls, and both were cosegregated with the BOR phenotype in the pedigrees, indicating that they were pathogenic mutations. No SIX1 and SIX5 mutations were detected in members of the remaining 10 families. Analysis of the genotype-phenotype correlation revealed a high phenotypic variability between and within BOR families. Two novel EYA1 mutations (c.466C>T and c.1735delG) were identified in two families with BOR syndrome. SIX1 and SIX5 mutations were not detected in the present study. Further investigation is warranted regarding the contribution of SIX1 and SIX5 mutations to BOR syndrome in East Asian populations.The Laryngoscope 03/2012; 122(5):1130-6. · 1.75 Impact Factor -
Article: Fifteen non-CODIS autosomal short tandem repeat loci multiplex data from nine population groups living in Taiwan.
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ABSTRACT: The analysis of autosomal short tandem repeat (STR) loci is a powerful tool in forensic genetics. We developed a multiplex system in which 15 non-Combined DNA Index System autosomal STRs (D3S1744, D4S2366, D8S1110, D10S2325, D12S1090, D13S765, D14S608, Penta E, D17S1294, D18S536, D18S1270, D20S470, D21S1437, Penta D, and D22S683) could be amplified in one single polymerase chain reaction. DNA samples from 1,098 unrelated subjects of nine population groups living in Taiwan, including Taiwanese Han, indigenous Taiwanese of Taiwan Island, Tao, mainland Chinese, Filipinos, Thais, Vietnamese, Indonesians, and Caucasians, were collected and analyzed using this system. The distributions of the allelic frequencies and the forensic parameters of each population group were presented. The combined discrimination power and the combined power of exclusion were high in all population groups tested in this study. A multidimensional scaling plot of these nine population groups based on the Reynolds' genetic distances calculated from 15 autosomal STRs was constructed, and the genetic substructure in this area was presented. In conclusion, this 15 autosomal STR multiplex system provides highly informative STR data and appears useful in forensic casework and parentage testing in different populations.Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin 03/2012; 126(4):671-5. · 2.59 Impact Factor -
Article: Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH).
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ABSTRACT: Trisomy 12p syndrome is a rare chromosomal abnormality, which presents with facial dysmorphism, moderate to severe psychomotor retardation and generalized hypotonia. Here we present the prenatal sonographic findings investigated of a fetus in prenatal diagnosis with a de novo trisomy of 12p identified by array-comparative genomic hybridization (aCGH).Gene 03/2012; 495(2):178-82. · 2.34 Impact Factor -
Article: Prenatal diagnosis of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester.
Taiwanese journal of obstetrics & gynecology 03/2012; 51(1):129-33.
Top co-authors
Top Journals
Institutions
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2003–2013
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National Taiwan University Hospital
Taipei, Taipei, Taiwan
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2012
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Mackay Medical College
Taipei, Taipei, Taiwan
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2002–2012
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National Taiwan University
- • Graduate Institute of Clinical Medicine
- • Institute of Biomedical Engineering
- • College of Medicine
Taipei, Taipei, Taiwan
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2010–2011
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Mackay Memorial Hospital
Taipei, Taipei, Taiwan -
China Medical University Hospital
Taichung, Taiwan, Taiwan -
Chang Jung Christian University
Tainan, Taiwan, Taiwan
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2008–2010
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Chang Gung Memorial Hospital
- Department of Obstetrics and Gynecology
Taipei, Taipei, Taiwan
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2009
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En Chu Kong Hospital
Taipei, Taipei, Taiwan
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2004–2009
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National Yang Ming University
- • Institute of Biochemistry and Molecular Biology
- • Department of Obstetrics and Gynecology
- • Department of Biochemistry
Taipei, Taipei, Taiwan
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2005
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Animal technology institute Taiwan
Taipei, Taipei, Taiwan
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