Publications by authors named "Meng-Shan Lee"

52 Publications

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry.

Taiwan J Obstet Gynecol 2013 Mar;52(1):120-4

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) in a pregnancy associated with abnormal maternal serum biochemistry.

Case Report: A 33-year-old woman underwent amniocentesis in the second trimester because of abnormal maternal serum biochemistry. Her husband was 33 years old. At 17 weeks of gestation, the levels of α-fetoprotein (AFP), unconjugated estriol (uE3), total β-human chorionic gonadotropin (β-hCG), and inhibin A were 0.65 multiples of median (MoM), 0.61 MoM, 0.32 MoM, and 0.55 MoM, respectively, consistent with a positive trisomy 18 risk of 1/128. Results of amniocentesis revealed a small de novo interstitial duplication of 11q encompassing 11q23. An array comparative genomic hybridization analysis detected a 9.04-Mb duplication at chromosome 11q22.3-q23.3. A polymorphic DNA marker analysis was carried out, which determined a paternal origin of the duplication. Results of fluorescence in situ hybridization analysis showed a direct duplication of interstitial 11q. The karyotype was 46,XX,dup(11)(q22.3q23.3). Level II ultrasound was unremarkable. The parents opted to continue the pregnancy. A 2792-g female baby was delivered at 38 weeks of gestation. When examined at 10 months of age, the neonate was small for age and was abnormal in psychomotor development with apparent facial dysmorphisms, and small hands and feet.

Conclusion: Low levels of AFP, uE3, β-hCG, and inhibin A in the second trimester maternal serum biochemistry may be a distinctive prenatal feature in pregnancy with fetal chromosome 11q duplication.
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http://dx.doi.org/10.1016/j.tjog.2013.01.015DOI Listing
March 2013

Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasis.

Taiwan J Obstet Gynecol 2012 Sep;51(3):405-10

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

Objective: This study aimed at presenting prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by fluorescence in situ hybridization (FISH), quantitative fluorescent polymerase chain reaction (QF-PCR), and array comparative genomic hybridization (aCGH) on uncultured amniocytes.

Materials, Methods, And Results: A 32-year-old woman underwent amniocentesis at 19 weeks of gestation because of fetal pyelectasis. Amniocentesis revealed a de novo ring-shaped sSMC in two of 21 colonies of cultured amniocytes. Repeated amniocentesis at 22 weeks of gestation revealed a karyotype of 47,XY,+mar[8]/46,XY[32] in cultured amniocytes. Spectral karyotyping and FISH confirmed that the sSMC was derived from chromosome 8. She underwent a third amniocentesis at 26 weeks of gestation. Oligonucleotide-based aCGH analysis on uncultured amniocytes demonstrated a 43 Mb genomic gain in chromosome 8 encompassing 8p22→q12.1. Polymorphic DNA marker analysis of the uncultured amniocytes revealed a maternal origin of the sSMC and excluded uniparental disomy 8. Interphase FISH analysis showed three D8Z2 signals in 8/40 (20%) of uncultured amniocytes. The cultured amniocytes had a karyotype of 47,XY,+r(8)(p22q12.1)[3]/46,XY[37]. The pregnancy was carried to term, and an apparently normal baby, weighing 3300 g, was delivered with mild hydronephrosis but no other phenotypic abnormalities. The cord blood was found to have a karyotype of 47,XY,+r(8)(p22q12.1)[2]/46,XY[38].

Conclusion: Prenatal diagnosis of fetal pyelectasis should alert obstetricians of chromosome aberration. Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes are helpful in rapid positive confirmation of an sSMC detected at amniocentesis.
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http://dx.doi.org/10.1016/j.tjog.2012.07.016DOI Listing
September 2012

Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes.

Taiwan J Obstet Gynecol 2012 Mar;51(1):93-9

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

Objective: To present rapid aneuploidy diagnosis (RAD) of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization (aCGH) using uncultured amniocytes.

Case Report: A 34-year-old, gravida 2, para 1, woman underwent amniocentesis at 20 weeks of gestation because of a previous mentally retarded child with an unbalanced reciprocal translocation inherited from the carrier father who had a karyotype of 46,XY,t(7;10) (q34;q26.12). Her first child was initially found to have a normal karyotype by routine cytogenetic analysis, but a cryptic chromosomal abnormality was subsequently diagnosed by aCGH. During this pregnancy, RAD by oligonucleotide-based aCGH using uncultured amniocytes revealed a 16.4-Mb duplication of 7q34-q36.3 and a 12.7-Mb deletion of 10q26.12-q26.3. Conventional cytogenetic analysis using cultured amniocytes revealed a karyotype of 46,XX,der(10)t(7;10)(q34;q26.12)pat. The parents elected to terminate the pregnancy. A malformed female fetus was delivered with a high prominent forehead, hypertelorism, epicanthic folds, a broad depressed nasal bridge, a prominent nose with anteverted nostrils, micrognathia, a short neck, large low-set ears, clinodactyly, small big toes, and normal female external genitalia.

Conclusion: aCGH is a useful tool for RAD of subtle chromosomal rearrangements in pregnancy, especially under the circumstance of a previous abnormal child with an unbalanced translocation derived from a parental subtle reciprocal translocation.
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http://dx.doi.org/10.1016/j.tjog.2012.01.019DOI Listing
March 2012

Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization.

Taiwan J Obstet Gynecol 2011 Mar;50(1):67-73

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

Objective: To present molecular cytogenetic characterization of prenatally detected inverted duplication and deletion of 9p, or inv dup del(9p).

Materials, Methods, And Results: A 35-year-old primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a derivative chromosome 9, or der(9) with additional material at the end of the short arm of one chromosome 9. Parental karyotypes were normal. Level II ultrasound showed ventriculomegaly and normal male external genitalia. Repeated amniocentesis was performed at 20 weeks of gestation. Array comparative genomic hybridization revealed a 0.70-Mb deletion at 9p24.3 and an 18.36-Mb duplication from 9p24.3 to 9p22.1. The distal 9p deletion encompassed the genes of DOCK8, ANKRD15, FOXD4, DMRT1, and DMRT3. Fluorescence in situ hybridization analysis using bacterial artificial chromosome clone probes specific for 9p confirmed that the der(9) was derived from the inv dup del(9p). The karyotype of the fetus was 46,XY,inv dup del(9)(:p22.1-->p24.3::p24.3-->qter)dn or 46,XY,der(9) del(9)(p24.3) inv dup(9)(p22.1p24.3)dn. Polymorphic DNA marker analysis determined a maternal origin of the inv dup del(9p). A 512-g male fetus was subsequently terminated at 22 weeks of gestation with facial dysmorphism. The fetus had normal male external genitalia without sex reversal.

Conclusion: Fluorescence in situ hybridization and array comparative genomic hybridization are useful to determine the nature of a prenatally detected aberrant chromosome derived from the inv dup del. Male fetuses with inv dup del(9p) and haploinsufficiency of DMRT1 and DMRT3 may present normal male external genitalia without sex reversal.
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http://dx.doi.org/10.1016/j.tjog.2011.01.038DOI Listing
March 2011

Unbalanced reciprocal translocations at amniocentesis.

Taiwan J Obstet Gynecol 2011 Mar;50(1):48-57

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

Objective: To present perinatal findings, modes of ascertainments, and modes of segregation in unbalanced reciprocal translocations detected at amniocentesis.

Materials And Methods: Between January 1987 and July 2010, 40 cases with unbalanced reciprocal translocations were diagnosed by amniocentesis at Mackay Memorial Hospital, Taipei, Taiwan. The 40 cases originated from 29 families; 21 families with one case, 7 families with two cases, and 1 family with five cases.

Results: Of 40 cases, 33 (82.5%) presented fetal ultrasound abnormalities and 7 (17.5%) presented no ultrasound abnormalities. Of 40 cases, 36 (90%) had a segregation mode of adjacent-1 2:2 segregation, 3 (7.5%) had a segregation mode of 3:1 segregation with tertiary trisomy, and 1 (2.5%) had a segregation mode of 3:1 segregation with tertiary monosomy. Of 29 families, 7 (24.1%) had de novo translocations and 22 (75.9%) had inherited translocations. In seven de novo cases, the main modes of ascertainments included abnormal ultrasound findings (n = 5) and advanced maternal age (n = 2). In 22 inherited families, the main modes of first ascertainment included abnormal ultrasound findings (n = 8), a previous aneuploid child (n = 8), advanced maternal age (n = 4), parental carrier status (n = 1), and abnormal maternal serum screening results (n = 1). Among 22 inherited families, 9 (40.9%) had a known parental carrier status, but 13 (59.1%) were unaware of parental carrier status at amniocentesis.

Conclusion: Unbalanced reciprocal translocations detected at amniocentesis are frequently associated with abnormal ultrasound findings. Prenatal diagnosis of an unbalanced translocation may incidentally detect a balanced translocation in the family. Prenatal diagnosis of fetal structural abnormalities should alert structural chromosome rearrangements and prompt cytogenetic analysis of the fetus and parents if necessary.
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http://dx.doi.org/10.1016/j.tjog.2011.02.001DOI Listing
March 2011

Balanced reciprocal translocations detected at amniocentesis.

Taiwan J Obstet Gynecol 2010 Dec;49(4):455-67

Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.

Objective: To present perinatal findings, modes of ascertainment and parental decision in balanced reciprocal translocations detected at amniocentesis.

Materials And Methods: Between January 1987 and August 2010, 82 cases with a simple reciprocal translocation, two cases with two separate simple reciprocal translocations and three cases with a complex chromosome rearrangement (CCR) were diagnosed by amniocentesis at Mackay Memorial Hospital, Taipei, Taiwan. The 87 cases originated from 76 families; 65 families with one case and 11 families with two cases.

Results: In the 76 families, the main modes of ascertainment included advanced maternal age (n=38), a previous child with an unbalanced reciprocal translocation (n=11), recurrent miscarriage (n = 9), abnormal maternal serum screening results (n = 9), elective causes (n = 5), a previous child with congenital anomalies (n =2) and abnormal ultrasound findings (n = 2). In these families, there were 17 (22.4%) de novo cases including 14 simple translocations and three CCRs. Of 14 de novo cases with a simple translocation, one (7.1%) manifested a congenital malformation, which was related to an X-autosome translocation, and four (28.6%) were terminated. Of three de novo CCRs, two manifested congenital anomalies and one was terminated. In 87 cases, additional aneuploidy was noted in two cases including one inherited simple translocation with Turner syndrome, and one de novo CCR with concomitant deletions and duplication.

Conclusion: Balanced reciprocal translocations detected at amniocentesis may be associated with fetal anomalies in cases of concomitant aneuploidy, de novo X-autosome translocation or de novo CCR. Genetic counseling of a de novo simple reciprocal translocation at amniocentesis remains difficult because approximately one-fourth of the parents opt for termination of the pregnancy, and detailed ultrasonography and array comparative genomic hybridization are helpful for parental counseling under such circumstances.
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http://dx.doi.org/10.1016/S1028-4559(10)60098-8DOI Listing
December 2010

Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses.

Taiwan J Obstet Gynecol 2010 Sep;49(3):341-50

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Pan-Chiao, Taiwan.

Objective: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 9.

Materials, Methods And Results: A 35-year-old woman, gravida 3, para 1, underwent amniocentesis at 17 weeks of gestation because of her advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+9[3]/46,XX[6]. Repeat amniocentesis at 19 weeks of gestation revealed a karyotype of 47,XX,+9[6]/46,XX[19]. At 22 weeks of gestation, she was referred to a tertiary medical center for genetic counseling, and amniocentesis revealed a karyotype of 47,XX,+9[2]/46,XX[22]. Array comparative genomic hybridization analysis of uncultured amniocytes revealed no genomic imbalance in chromosome 9. However, interphase fluorescence in situ hybridization analysis of uncultured amniocytes showed that nine (18%) of 50 cells were trisomic for chromosome 9. Polymorphic DNA marker analyses also revealed a diallelic pattern with unequal biparental inheritance of chromosome 9 and a dosage ratio of 1:18 (paternal allele:maternal allele) in the uncultured amniocytes and a dosage ratio of 1:36 in the cultured amniocytes, indicating that the euploid cell line had maternal uniparental isodisomy for chromosome 9. Level II ultrasound demonstrated bilateral ventriculomegaly. The pregnancy was subsequently terminated, and a malformed fetus was delivered. Postnatal cytogenetic and polymorphic DNA marker analyses of the fetal and extraembryonic tissues confirmed the prenatal diagnosis.

Conclusion: Mosaic trisomy 9 carries a high risk of fetal abnormalities warranting detailed sonographic investigation of congenital malformations. Mosaic trisomy 9 can be associated with maternal uniparental disomy for chromosome 9 in euploid cell lines. Array comparative genomic hybridization is limited for the detection of low-level mosaicism.
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http://dx.doi.org/10.1016/S1028-4559(10)60071-XDOI Listing
September 2010

Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis.

Taiwan J Obstet Gynecol 2010 Mar;49(1):62-8

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

Objective: To present unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis.

Materials And Methods: Between January 1987 and September 2009, 31,194 amniocenteses were performed at Mackay Memorial Hospital, Taipei, Taiwan. Two cases with an unbalanced heterologous acrocentric rearrangements involving chromosome 21 from two families and seven cases with balanced heterologous acrocentric rearrangements involving chromosome 21 from five families were diagnosed and investigated.

Results: We detected rob(14q21q),+21 (one case), rob(13q21q),+21 (one case), rob(14q21q) (four cases), rob(13q21q) (one case) and rob(15q21q) (two cases). Of the nine cases that underwent parental cytogenetic investigation, one was de novo and eight were inherited (five maternal and three paternal). The six families with an inherited acrocentric rearrangement included rob(14q21q) (three families), rob(13q21q) (two families) and rob(15q21q) (one family). Of these six families, three had a known parental carrier status before the first amniocentesis, while the other three were aware of their parental carrier status only after prenatal diagnosis of a fetus with a heterologous acrocentric rearrangement. The seven fetuses with a balanced heterologous acrocentric rearrangement were inherited from two paternal carriers of rob(14q21q), one maternal carrier of rob(14q21q), one maternal carrier of rob(13q21q), and one maternal carrier of rob(15q21q). No uniparental disomy 14 was detected in any of the three cases with rob(14q21q) tested for uniparental disomy.

Conclusion: Concerning heterologous acrocentric rearrangements involving chromosome 21, the frequency of unbalanced rearrangements was 0.0064% and that of balanced rearrangements was 0.0224% at amniocentesis. In this study, rob(14q21q) was the most common, and rob(13q21q) and rob(15q21q) were the second most common rearrangements. Of the six families with an inherited heterologous acrocentric rearrangement involving chromosome 21, 50% (3/6) were aware of their parental carrier status only after prenatal diagnosis of a fetus with a translocation by amniocentesis.
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http://dx.doi.org/10.1016/S1028-4559(10)60011-3DOI Listing
March 2010

Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis.

Taiwan J Obstet Gynecol 2009 Dec;48(4):389-99

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

Objective: To investigate unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis.

Materials And Methods: From January 1987 to September 2009, 31,194 amniocenteses were performed at Mackay Memorial Hospital, Taipei, Taiwan. Two cases with unbalanced acrocentric rearrangements involving chromosomes other than chromosome 21 from two families, and 24 cases with balanced acrocentric rearrangements involving chromosomes other than chromosome 21 from 21 families were diagnosed and investigated.

Results: We detected i(13q13q), +13 (one case), rob(13q14q), +13 (one case), rob(13q14q) (16 cases), rob(14q15q) (five cases), rob(13q15q) (one case), rob(15q22q) (one case), and mosaic rob(14q22q) (one case). Of the 25 cases that underwent parental cytogenetic investigation, six arose de novo and 19 were inherited (10 maternal and nine paternal). The 16 families with an inherited Robertsonian translocation included rob(13q14q) (11 families), rob(14q15q) (four families), and rob(15q22q) (one family). Of these 16 families, only two had known parental carrier status prior to the first amniocentesis, while the other 14 were aware of a parental carrier status only after prenatal diagnosis of a fetus with a heterologous Robertsonian translocation. The 18 fetuses with balanced heterologous Robertsonian translocations inherited them from six maternal carriers of rob(13q14q), four paternal carriers of rob(13q14q), four paternal carriers of rob(14q15q), and one maternal carrier of rob(15q22q). Neither UPD14 nor UPD15 was detected in any of the 16 cases tested for UPD.

Conclusion: Concerning acrocentric rearrangements involving chromosomes other than chromosome 21, we found a frequency of 0.0064% for unbalanced rearrangements and 0.0769% for balanced rearrangements at amniocentesis in this study. rob(13q14q) was the most common and rob(14q15q) the second most common rearrangement. Of the families with an inherited translocation, 87.5% were aware of parental carrier status only after prenatal diagnosis of a fetus with a translocation by amniocentesis.
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http://dx.doi.org/10.1016/S1028-4559(09)60329-6DOI Listing
December 2009

A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys.

Eur J Med Genet 2009 Jan-Feb;52(1):59-61. Epub 2008 Nov 19.

We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy-Walker malformation. Characteristic craniofacial features include a turricephalic prominent forehead, hypertelorism, low-set ears, a flat nasal bridge, mid-face hypoplasia, bilateral cleft lip and palate, and a thick nuchal fold. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12Mb deletion of 6p24.1-->pter.
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http://dx.doi.org/10.1016/j.ejmg.2008.11.003DOI Listing
April 2009

Prenatal diagnosis of de novo terminal deletion of chromosome 7q.

Prenat Diagn 2003 May;23(5):375-9

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.

Objectives: To present the prenatal diagnosis and perinatal findings of a de novo terminal deletion of chromosome 7q.

Case: Amniocentesis was performed at 21-weeks gestation owing to a positive result of maternal serum multiple-marker screening. The 30-year-old woman, gravida 2, para 1, had a maternal serum multiple-marker screening test at 18-weeks gestation. The risk of Down syndrome was 1/11 calculated from the gestational age, maternal age, a maternal serum alpha-fetoprotein level of 1.026 multiples of the median (MOM), and a maternal serum free beta-human chorionic gonadotrophin (hCG) level of 8.678 MoM. Cytogenetic analysis of the cultured amniotic fluid cells revealed a de novo terminal deletion of 7q, 46,XX,del(7)(q35). Ultrasonography showed intrauterine growth restriction, microcephaly, and tetralogy of Fallot. The pregnancy was terminated subsequently. Grossly, the placenta was normal. On autopsy, the proband additionally manifested a prominent forehead, hypertelorism, epicanthus, upslanting palpebral fissures, a flat and broad nasal bridge, micrognathia, large low-set ears, overriding toes, and a normal brain. Radiography demonstrated a normal spine. Fluorescence in situ hybridization analysis demonstrated a 7q terminal deletion. Genetic marker analysis showed a maternally derived terminal deletion of chromosome 7(q35-qter).

Conclusion: Fetuses with a de novo 7q terminal deletion may be associated with a markedly elevated maternal serum hCG level and abnormal sonographic findings of intrauterine growth restriction, microcephaly, and congenital heart defects in the second trimester.
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http://dx.doi.org/10.1002/pd.602DOI Listing
May 2003
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