共查询到20条相似文献，搜索用时 62 毫秒
1.
Shin-Wen Chen Chih-Ping Chen Liang-Kai Wang Schu-Rern Chern Pei-Chen Wu Yen-Ni Chen Chen-Ju Lin Wen-Ling Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(1):87-92
Objective
We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus.Case Report
A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal ultrasound findings. Level II ultrasound examination revealed a narrow chest, shortened and curved long limbs, protrusion of the abdomen, and macrocephaly. A tentative diagnosis of TD1 was made. After genetic counseling, the pregnancy was terminated and a malformed fetus was delivered. Postnatal radiography findings were consistent with the diagnosis of TD1, with additional findings of short ribs, platyspondyly, and horizontal acetabular roofs. Molecular genetic analysis using umbilical cord tissue revealed a heterozygous mutation of c.2419T>G (p.Ter807Gly) (X807G) in the fibroblast growth factor receptor 3 gene (FGFR3).Conclusion
A second-trimester fetus with a heterozygous c.2419T>G mutation in FGFR3 may present characteristic ultrasound and X-ray findings of TD1. 相似文献2.
Chih-Ping Chen Shu-Yuan Chang Yen-Ni Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Li-Feng Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2018,57(5):739-744
Objective
We present prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound.Case report
A 30-year-old, gravida 2, para 1, woman underwent amniocentesis at 22 weeks of gestation because of fetal polydactyly of left foot and echogenic heart foci on prenatal ultrasound. She and her husband and the 2-year-old son were healthy, and there was no family history of mental disorders, skeletal abnormalities and congenital malformations. Amniocentesis revealed a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed a 1.317-Mb 1q21.1-q21.2 microdeletion encompassing PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8 and GPR89B. aCGH analysis of the family members revealed that the phenotypically normal father and elder son carried the same 1q21.1-q21.2 microdeletion. The mother did not have such a deletion. The parents elected to continue the pregnancy, and a 3416-g female baby was delivered at 40 weeks of gestation with neither facial dysmorphism nor gross abnormalities except postaxial polydactyly of the left foot.Conclusion
Fetuses with a 1q21.1-q21.2 microdeletion may present polydactyly on prenatal ultrasound, and aCGH is helpful for prenatal diagnosis under such a circumstance. 相似文献3.
Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias. Prenatal sonographic and molecular genetic diagnoses of three cases of TD type I (TD1) and one case of TD type II (TD2) are presented here. Two fetuses of TD1 were characterized by polyhydramnios, macrocephaly, short limbs, a narrow thoracic cage and curved short femora, but without a cloverleaf skull at 27 and 31 weeks' gestation, respectively. The third fetus with TD1 was, however, not associated with macrocephaly, polyhydramnios, chest narrowing and severe femoral bowing on prenatal ultrasound at 18 weeks' gestation. The TD2 fetus was characterized by polyhydramnios, short limbs, a narrow thoracic cage, straight short femora, hydrocephalus and a cloverleaf skull at 24 weeks' gestation. Three-dimensional ultrasound was able to enhance the visualization of thickened, redundant skin folds and craniofacial and limb deformities associated with TD. Molecular analysis of the fibroblast growth factor receptor 3 (FGFR3) gene by restriction enzyme digestion analysis and direct sequencing using cultured amniotic fluid cells or cord blood cells revealed a missense mutation of 742C-->T (Arg248Cys) in all cases with TD1 and a missense mutation of 1948A-->G (Lys650Glu) in the case with TD2. The present report shows that adjunctive applications of molecular genetic analysis of the FGFR3 gene and three-dimensional ultrasound are useful for prenatal diagnosis of TD. 相似文献
4.
Chih-Ping Chen Shu-Yuan Chang Liang-Kai Wang Tung-Yao Chang Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Dai-Dyi Town Li-Feng Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2018,57(5):730-733
Objective
We present prenatal diagnosis of a 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction (IUGR) on prenatal ultrasound.Case report
A 30-year-old, gravida 3, para 2, woman was referred to the hospital for amniocentesis because of fetal ventriculomegaly on prenatal ultrasound. Her husband was 31 years old. The couple had two healthy daughters, and there was no family history of mental disorders and congenital malformations. Amniocentesis revealed a karyotype of 46,XX. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed a 451.89-kb 15q11.2 microdeletion or arr 15q11.2 (22,765,628–23,217,514) × 1.0 [GRCh37 (hg19)] encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1. The parental karyotypes were normal. aCGH analysis on the DNAs extracted from parental bloods revealed a 402-kb 15q11.2 microdeletion or arr 15q11.2 (22,815,577-23,217,514) × 1.0 (hg19) encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in the phenotypically normal father. The mother did not have any genomic imbalance. Level II ultrasound at 21 weeks of gestation revealed microcephaly and IUGR. The parents elected to terminate the pregnancy at 22 weeks of gestation, and a female fetus was delivered with a body weight of 448 g (10th centile) and a body length of 26 cm (3rd–10th centile) but no gross abnormalities.Conclusion
Fetuses with a 15q11.2 (BP1-BP2) microdeletion may present ventriculomegaly, microcephaly and IUGR on prenatal ultrasound, and aCGH is helpful for prenatal diagnosis under such a circumstance. 相似文献5.
Chih-Ping Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Chen-Chi Lee Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(6):840-842
Objective
We present prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome.Case report
A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+13[5]/46,XY[20]. Oligonucleotide array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed arr [GRCh37] (13)×3 [0.10], (X,Y)×1 compatible with trisomy 13 mosaicism. Prenatal ultrasound was unremarkable. Repeat amniocentesis was performed at 21 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed a mosaic trisomy 13 level of 10% (10/100 cells). aCGH analysis on uncultured amniocytes revealed a result of arr 13q12.11q34 (20,407,323–115,092,619)×2.1 with a log2 ratio of 0.06 compatible with a 10% level of mosaicism. Polymorphic DNA marker analysis excluded uniparental disomy 13. The parental karyotypes were normal. Conventional cytogenetic analysis using cultured amniocytes at repeat amniocentesis revealed a karyotype of 46,XY in 23/23 colonies. The pregnancy was carried to 37 weeks of gestation, and a 3600-g phenotypically normal male baby was delivered. When examined at 8 months of age, the infant was doing well and was normal in psychomotor and growth development. The peripheral blood had a karyotype of 46,XY, and interphase FISH analysis on uncultured urinary cells revealed a mosaic trisomy 13 level of 4.4% (2/45 cells).Conclusion
Low-level true mosaicism for trisomy 13 at amniocentesis without ultrasound abnormalities can be associated with a favorable fetal outcome. 相似文献6.
Chih-Ping Chen Chen-Yu Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Li-Feng Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(6):821-826
Objective
We present prenatal diagnosis of a 4p16.3 interstitial microdeletion associated with bilateral cleft lip and palate and short long bones on prenatal ultrasound, and we discuss the genotype–phenotype correlation.Materials and methods
A 32-year-old woman underwent amniocentesis at 22 weeks of gestation because of bilateral cleft lip and palate and short limbs on prenatal ultrasound. Conventional cytogenetic analysis was performed on cultured amniocytes and parental bloods. Oligonucleotide array comparative genomic hybridization (aCGH) was performed on the DNAs extracted from uncultured amniocytes, parental bloods and umbilical cord. Metaphase fluorescence in situ hybridization (FISH) was performed on cultured amniocytes.Results
Amniocentesis revealed a karyotype of 46,XY. The parental karyotypes were normal. aCGH analysis on uncultured amniocytes revealed a 1.66-Mb interstitial microdeletion at 4p16.3 encompassing 23 Online Mendelian Inheritance of in Man (OMIM) genes including FGFRL1 and TACC3. The parents did not have such a deletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with typical Wolf-Hirschhorn syndrome (WHS) facial appearance and bilateral cleft lip and palate. aCGH analysis of the umbilical cord confirmed the prenatal diagnosis with a result of arr 4p16.3 (72,447–1,742,649) × 1.0 [GRCh37 (hg19)]. Metaphase FISH analysis of cultured amniocytes confirmed a 4p16.3 microdeletion.Conclusion
Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones. Prenatal diagnosis of facial cleft with short long bones should raise a suspicion of chromosome microdeletion syndromes. 相似文献7.
Tzu-Yun Chuang Shu-Yuan Chang Chih-Ping Chen Ming-Huei Lin Cheng-Yu Chen Shin-Wen Chen Schu-Rern Chern Chen-Chi Lee Dai-Dyi Town Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2018,57(6):881-884
Objective
We present digynic triploidy in a fetus with semilobar holoprosencephaly (HPE).Case report
A 32-year-old, gravid 1, para 0, woman underwent prenatal ultrasound examination at 12 weeks of gestation, and the ultrasound showed relative macrocephaly, a small non-cystic placenta, and a fetus with absent nasal bone and semilobar HPE. The pregnancy was terminated subsequently, and a 50-g fetus was delivered with a relatively enlarged head and premaxillary agenesis. The placenta was small and non-cystic. Postnatal cytogenetic analysis of the umbilical cord revealed a karyotype of 69, XXX. Postnatal DNA marker analysis using quantitative fluorescent polymerase chain reaction assays and the polymorphic short tandem repeat markers for chromosome 18 and 20 on the placental tissues showed a diallelic pattern with a dosage of 1:2 (paternal allele to maternal allele ratio), indicating a maternal origin of the triploidy.Conclusion
Fetuses with digynic triploidy may present relative macrocephaly, semilobar HPE and a small placenta on prenatal ultrasound. 相似文献8.
Chih-Ping Chen Chih-Heng Hsieh Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Chen-Chi Lee Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(6):847-851
Objective
We present prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3.Case report
A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(18)(q12.1q12.3). The fetal ultrasound was unremarkable. The woman underwent repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH) using uncultured amniocytes revealed a 10.76-Mb interstitial deletion 18q12.1-q12.3 or arr 18q12.1q12.3 (31,944,347–42,704,784) × 1.0 encompassing 19 Online Mendelian Inheritance of in Man (OMIM) genes including DTNA, CELF4 and SETBP1. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes confirmed an 18q proximal interstitial deletion. The parental karyotypes were normal. Polymorphic DNA marker analysis determined a paternal origin of the deletion. The pregnancy was subsequently terminated at 24 weeks of gestation, and a 650-g fetus was delivered with characteristic facial dysmorphism.Conclusion
aCGH analysis and polymorphic DNA marker analysis at amniocentesis are useful for determination of the deleted genes and the parental origin of the de novo deletion, and the acquired information is helpful for genetic counseling. 相似文献9.
Wei Jian Qi-Ting Du Zhen-Fei Lai Yu-Fan Li Shi-Quan Li Zhong-Tang Xiong Dun-Jin Chen Min Chen Jing-Si Chen 《Taiwanese journal of obstetrics & gynecology》2018,57(3):452-455
Objective
Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12 gene. With the development of ultrasound skills and genetic analysis, HI could be prenatal diagnosed.Case report
Here, we reported a case of HI, which was prenatal diagnosed by ultrasound examination and genetic analysis. The fetus was found that severe ectropion, eclabium, flattened nose, and rudimentary ears by ultrasound at 20 weeks gestation. A molecular genetic analysis was performed and revealed two mutations in the ABCA12 gene. One of two mutations were not reported in the past. The fetus was terminated.Conclusion
HI was associated with the poor prognosis of HI neonates. Prenatal ultrasound and genetic analysis were important for prenatal diagnosis of HI and were helpful to give sufficient prenatal counsels for the family with HI baby. 相似文献10.
Chih-Ping Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Wen-Lin Chen Chien-Wen Yang Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2018,57(4):578-582
Objective
We present prenatal diagnosis of a 2p16.1-p15 duplication associated with familial intellectual disability, and we discuss the genotype–phenotype correlation.Case report
A 22-year-old, primigravid woman underwent amniocentesis at 22 weeks of gestation because of a family history of intellectual disability. The woman and her two sisters had intellectual disability but no behavioral disorders. The intellectual disability was noted in at least one paternal aunt and six paternal cousins of the woman. Cytogenetic analysis revealed the karyotype of 46,XX in the fetus and the two women. Array comparative genomic hybridization (aCGH) analysis on the DNAs extracted from cultured amniocytes and the bloods of the woman and the her sister revealed a 3.244-Mb duplication of 2p16.1-p15 or arr 2p16.1p15 (58,288,588–61,532,538) × 3.0 [GRCh37 (hg19)] encompassing eight Online Mendelian Inheritance in Man (OMIM) genes of VRK2, FANCL, BCL11A, PAPOLG, REL, PUS10, PEX13 and USP34 in the fetus and the two women. Prenatal ultrasound findings were unremarkable. The woman elected to continue the pregnancy. A 3244-g female baby was delivered at term with neither craniofacial dysmorphism nor structural abnormalities.Conclusion
aCGH is useful in prenatal diagnosis of inherited subtle chromosome imbalance in pregnancy with familial intellectual disability. Chromosome 2p16.1-p15 duplication can be associated with intellectual disability. 相似文献11.
Ana Vičić Tomislav Hafner Ivanka Bekavac Vlatković Petra Korać Dubravko Habek Feodora Stipoljev 《Taiwanese journal of obstetrics & gynecology》2017,56(6):731-735
Objective
The aim of this study is to summarize the experience on prenatal diagnosis of Down syndrome.Materials and methods
The study includes a retrospective data analysis of 157 prenatally detected cases of Down syndrome, routinely diagnosed among 6448 prenatal investigations performed during a 13-year period (2002–2014) in a single tertiary center.Results
The prevalence of diagnosed Down syndrome cases was 2.4%. Maternal age alone was indication for prenatal diagnosis in 47 cases (45.2%), increased first-/second-trimester biochemical screening test in 34 cases (21.7%), abnormal ultrasound examination in 69 cases (43.9%), positive familial history for chromosomal abnormalities in four cases, and high risk for trisomy 21 revealed by cell-free DNA testing in three cases. Ultrasound anomalies were present in total of 94 fetuses (59.8%). The most common abnormality was cystic hygroma found in 46 cases (29.3%). A regular form of Down syndrome (trisomy 21) was found in 147 cases (93.6%), Robertsonian translocation in six cases (3.8%), and mosaic form in four cases (2.6%).Conclusion
In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling. 相似文献12.
Chih-Ping Chen Chen-Yu Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Chen-Chi Lee Chien-Wen Yang Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(4):550-553
Objective
We present molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect (NTD).Case Report
A 35-year-old pregnant woman was found to have a fetus with anencephaly by prenatal ultrasound at 12 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with anencephaly. Cytogenetic analysis of the cultured placental tissues revealed a karyotype of 46,XX,dup(15) (q24.2q26.2). Parental karyotypes were normal. Array comparative genomic hybridization analysis of the placental tissues revealed a 20.36-Mb duplication of 15q24.2-q26.2 encompassing 100 Online Mendelian Inheritance of in Man (OMIM) genes including LINGO1, MTHFS, KIF7 and CHD2. Metaphase fluorescence in situ hybridization analysis using 15q25.1-specidic probe confirmed a duplication of 15q25.1. Polymorphic DNA marker analysis showed a maternal origin of the duplication.Conclusion
A duplication of chromosome 15q24.2-q26.2 can be associated with NTD. 相似文献13.
Chih-Ping Chen Ming Chen Chia-Hsun Wu Chen-Ju Lin Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Shun-Ping Chang Li-Feng Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(4):554-557
Objective
We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1.Case report
A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar [18]/46,XX [4]. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. aCGH analysis of cultured amniocytes revealed a 2.855-Mb duplication of 21q11.2-q21.1 encompassing the genes of LIPI, ABCC13 and NRIP1. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes revealed a result of 47,XX,+mar .ish der(13/21) (D13/21Z1+) [10]. Spectral karyotyping analysis determined the origin of chromosome 21 in the sSMC. A female fetus was delivered with no phenotypic features of Down syndrome and no structural abnormalities. We discuss the genotype–phenotype correlation of LIPI, ABCC13 and NRIP1, and review the literature of an sSMC(21) associated with dup(21)(q11.2q21.1).Conclusion
aCGH is useful for identification of the nature and genetic component of a prenatally detected sSMC. 相似文献14.
Chih-Ping Chen Tung-Yao Chang Fang-Yu Hung Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chen-Chi Lee Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(6):843-846
Objective
We present prenatal diagnosis of an interstitial 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction (IUGR) on fetal ultrasound.Case report
A 29-year-old, primigravid woman underwent elective amniocentesis at 17 weeks of gestation because of anxiety. Amniocentesis revealed a karyotype of 46, XX. However, level II ultrasound at 21 weeks of gestation revealed a fetus with IUGR and bilateral cleft lip and palate. Repeat amniocentesis was performed at 21 weeks of gestation, and array comparative genomic hybridization using uncultured amniocytes revealed a 13.5-Mb interstitial deletion of 8q22.2-q23.3 encompassing 37 Online Mendelian Inheritance of in Man (OMIM) genes including SPAG1, GRHL2, NCALD, RRM2B and ZFPM2. Polymorphic DNA marker analysis determined a paternal origin of the deletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with a depressed nose and bilateral cleft lip and palate.Conclusion
Prenatal diagnosis of facial cleft with IUGR should raise a suspicion of subtle chromosome deletions. 相似文献15.
Chih-Ping Chen Tsang-Ming Ko Liang-Kai Wang Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Chen-Chi Lee Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2018,57(1):128-132
Objective
We present prenatal diagnosis and molecular cytogenetic characterization of 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities.Case report
A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of a family history of spinocerebellar atrophy in the husband. Amniocentesis revealed a karyotype of 46,XX. Simultaneously array comparative genomic hybridization (aCGH) analysis (using 60,000 probes) revealed a 0.7-Mb 17p13.3 microdeletion or arr 17p13.3 (1,264,243–1,965,733) × 1 dn [GRCh37 (hg19)] encompassing YWHAE and CRK but not PAFAH1B1. Prenatal ultrasound findings were unremarkable. There were no structural abnormalities of the brain, heart, kidneys, skull, limbs and other internal organs. The parents elected to terminate the pregnancy, and a 268-g fetus was delivered at 19 weeks of gestation with mild facial dysmorphism. Postnatal high-resolution aCGH analysis of the placenta (using 630,000 probes) showed a 0.79-Mb 17p13.3 microdeletion or arr 17p13.3 (1,173,549–1,970,690) × 1 (hg19) encompassing TUSC5, YWHAE, CRK and HIC1 but not PAFAH1B1. Metaphase fluorescence in situ hybridization analysis using the 17p13.3-specific probe of RP11-818O24 revealed a 17p13.3 deletion.Conclusion
Fetus with 17p13.3 microdeletion without involving PAFAH1B1 may present no brain abnormalities on fetal ultra sound. 相似文献16.
Chih-Ping Chen Chang-Sheng Yin Liang-Kai Wang Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Peih-Shan Wu Wen-Lin Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(3):390-393
Objective
We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS).Case report
A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening. Her husband was 35 years old, and there was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(20)(p12p13), and array comparative genomic hybridization analysis on uncultured amniocytes revealed a 3.749-Mb deletion at 20p13-p12.3 and a 1.84-Mb deletion at 20p12.2 encompassing the gene of JAG1. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. The fetus postnatally manifested characteristic facial features of ALGS. Postnatal molecular cytogenetic analysis of fetal tissues confirmed the prenatal diagnosis. Polymorphic DNA marker analysis revealed a paternal origin of the deletion.Conclusion
A de novo interstitial 20p deletion can be caused by a paternal effect. Pregnancy with a fetus affected with ALGS may be associated with an abnormal result of combined first-trimester screening and manifest no detectable ultrasound abnormalities. 相似文献17.
Ha Ly Thi Thanh Huong Le Thi Thanh Long Hoang Luong Thinh Huy Tran Su-Ching Liu Hai Nam Truong Thanh Van Ta The - Hung Bui Van Khanh Tran 《Taiwanese journal of obstetrics & gynecology》2018,57(3):435-441
Objective
The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin (SEA-HPFH) and β -thalassemia that allowed prenatal diagnosis to be performed in a subsequent pregnancy in the family.Case report
The father showed a SEA-HPFH thalassemia trait phenotype, while his genotype revealed that he was heterozygous for the SEA-HPFH deletion; The mother genotype was heterozygote for IVS-II-654 mutation; the second child had co-inherited both parental mutations and was, thus, a compound heterozygote for β-thalassemia (IVS-II-654)/SEA-HPFH deletion. His phenotype was intermediate β-thalassemia. Prenatal genotyping of a fetal sample during the third pregnancy confirmed the fetus was only heterozygote for SEA-HPFH deletion and the parents elected to continue the pregnancy.Conclusion
We described the clinical and molecular characterization of the first detected case of compound β-Thalassemia/SEA-HPFH deletion in Northern Vietnam. The report also highlighted the accuracy and necessity of mutation screening for families with thalassemia to inform accurate genetic counseling and targeted prenatal diagnosis when desired. 相似文献18.
19.
Chih-Ping Chen Shu-Yuan Chang Chen-Ju Lin Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Wen-Lin Chen Chien-Wen Yang Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2018,57(5):734-738
Objective
We present prenatal diagnosis of a familial 5p14.3-p14.1 deletion in a fetus with congenital heart disease on prenatal ultrasound.Case report
A 33-year-old woman underwent amniocentesis at 18 weeks of gestation because of fetal ventricular septal defect (VSD) and echogenic bowel on prenatal ultrasound. Amniocentesis revealed a karyotype of 46,XX,del (5) (p14p14). Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed a 5.589-Mb 5p14.3-p14.1 deletion or arr 5p14.3p14.1 (19, 497, 649–25,086,268) × 1.0 [GRCh37 (hg19)] encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10. Cytogenetic and aCGH analyses of the parents showed that the phenotypically normal mother carried the 5p14.3-p14.1 deletion. The father did not have such a deletion. The parents elected to continue the pregnancy, and a 3426-g female baby was delivered at 38 weeks of gestation with no gross abnormalities. The infant postnatally manifested VSD, atrial septal defect and patent ductus areriosus, and underwent cardiac surgery to treat the congenital heart disease. When follow-up at age 1 year and 4 months, she had a body weight of 8.8 Kg (50th–75th centile), a body height of 75.6 cm (85th–95th centile) and normal psychomotor development.Conclusion
Fetuses with a 5p14.3-p14.1 deletion may present congenital heart disease on prenatal ultrasound, and aCGH is helpful for prenatal diagnosis under such a circumstance. 相似文献20.
Chih-Ping Chen Ming Chen Shun-Ping Chang Fang-Yu Hung Meng-Ju Lee Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Chen-Chi Lee Dai-Dyi Town Wen-Lin Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(2):234-237
