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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 771-774, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365622

RESUMO

OBJECTIVE: To review the clinical data of a fetus with false positive result of non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM). METHODS: Amniotic fluid sample was taken from a pregnant women with high risk for chromosome 16 aneuploidy for karyotyping analysis, single nucleotide polymorphism array (SNP array) and interphase fluorescence in situ hybridization (FISH). Genetic testing was also conducted on the fetal and maternal surface of the placenta, root of umbilical cord and fetal skin tissue after induced abortion. RESULTS: Cytogenetic analysis of the amniotic fluid sample yielded a normal karyotype. SNP array revealed mosaicism (20%) of trisomy 16 in the fetus. FISH confirmed the presence of mosaicism (25%) for trisomy 16. After induced labor, all sampled sites of placenta were confirmed to contain trisomy 16 by SNP array, while the analysis of fetal skin tissue yielded a negative result. CONCLUSION: CPM is an important factor for false positive NIPT result. Prenatal identification of CPM and strengthened pregnancy management are important to reduce adverse pregnancy outcomes.


Assuntos
Cromossomos Humanos Par 16 , Mosaicismo , Amniocentese , Cromossomos Humanos Par 16/genética , Análise Citogenética , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Biologia Molecular , Placenta , Gravidez , Diagnóstico Pré-Natal , Trissomia/genética
3.
Medicine (Baltimore) ; 100(25): e26331, 2021 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-34160397

RESUMO

ABSTRACT: Mosaicism can be observed in karyotype analyses of amniotic fluid cells. Differentiating between true mosaicism and pseudomosaicism and determining mosaic proportions can help avoid misjudgments by doctors and effectively reduce mental and physical harm to pregnant women. However, the detection of mosaicism and mosaic proportions via karyotype analysis and fluorescence in situ hybridization (FISH) is extremely complex. We have developed a novel approach, "segmental duplication quantitative fluorescent PCR" (SD-QF-PCR), to detect mosaicism and mosaic proportions.In this study, twenty control samples and fourteen mosaic samples were tested by first-line karyotype analysis; by second-line karyotype analysis, SD-QF-PCR and FISH were used to reassess fetal sex chromosome mosaicism and mosaic proportions.Detection of the 20 control samples by second-line karyotype analysis via FISH and SD-QF-PCR showed normal and consistent results. Among the 14 mosaic samples, the numbers of samples showing true mosaicism and pseudomosaicism detected by the three methods were 6 and 8, respectively.Our study demonstrates that SD-QF-PCR can be used as a complementary method to traditional cytogenetic analysis of amniotic fluid mosaics and has clinical application value.


Assuntos
Cariotipagem/métodos , Mosaicismo , Reação em Cadeia da Polimerase/métodos , Diagnóstico Pré-Natal/métodos , Aberrações dos Cromossomos Sexuais , Amniocentese , Líquido Amniótico/citologia , Células Cultivadas , Estudos de Viabilidade , Feminino , Humanos , Hibridização in Situ Fluorescente , Gravidez , Cultura Primária de Células
4.
Int J Mol Sci ; 22(11)2021 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-34070950

RESUMO

Fifty-five to two hundred CGG repeats (called a premutation, or PM) in the 5'-UTR of the FMR1 gene are generally unstable, often expanding to a full mutation (>200) in one generation through maternal inheritance, leading to fragile X syndrome, a condition associated with autism and other intellectual disabilities. To uncover the early mechanisms of pathogenesis, we performed metabolomics and proteomics on amniotic fluids from PM carriers, pregnant with male fetuses, who had undergone amniocentesis for fragile X prenatal diagnosis. The prenatal metabolic footprint identified mitochondrial deficits, which were further validated by using internal and external cohorts. Deficits in the anaplerosis of the Krebs cycle were noted at the level of serine biosynthesis, which was confirmed by rescuing the mitochondrial dysfunction in the carriers' umbilical cord fibroblasts using alpha-ketoglutarate precursors. Maternal administration of serine and its precursors has the potential to decrease the risk of developing energy shortages associated with mitochondrial dysfunction and linked comorbidities.


Assuntos
Transtorno Autístico/genética , Proteína do X Frágil de Retardo Mental/genética , Síndrome do Cromossomo X Frágil/genética , Mitocôndrias/genética , Mutação , Serina/deficiência , Regiões 5' não Traduzidas , Adulto , Amniocentese , Líquido Amniótico/química , Transtorno Autístico/diagnóstico , Transtorno Autístico/metabolismo , Transtorno Autístico/patologia , Ciclo do Ácido Cítrico/genética , Feminino , Feto , Fibroblastos/metabolismo , Fibroblastos/patologia , Proteína do X Frágil de Retardo Mental/metabolismo , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/metabolismo , Síndrome do Cromossomo X Frágil/patologia , Expressão Gênica , Teste de Complementação Genética , Heterozigoto , Humanos , Masculino , Metabolômica/métodos , Mitocôndrias/metabolismo , Mitocôndrias/patologia , Gravidez , Cultura Primária de Células , Proteômica/métodos , Serina/biossíntese , Repetições de Trinucleotídeos
5.
Eur J Obstet Gynecol Reprod Biol ; 261: 134-138, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33932684

RESUMO

BACKGROUND: To evaluate the efficacy of virtual reality (VR) as a distraction technique in the management of acute pain and anxiety during amniocentesis. STUDY DESIGN: A randomized controlled trial was conducted between September 2020 and October 2020 involving 60 women undergoing mid-trimester amniocentesis. Thirty women were assigned randomly to the VR intervention (immersive video content as a distraction method) group and 30 to the standard care group using a predetermined randomization code. The primary outcome measure was the visual analog scale (VAS) pain score, along with the women's ratings of their extent of anxiety experienced during the procedure. The VAS consisted of a 10 cm line ranging from 0 to 10 (anchored by 0 = no pain and 10=very severe pain). Anxiety was assessed on Spielberger's state-trait anxiety inventory (STAI) questionnaire. RESULTS: The patients' characteristics and obstetric data were similar in both groups. The ratings on the VAS indicated that the VR intervention was associated with significantly less pain than the ratings in the standard of care group; namely, 2.5 ± 1.5 vs. 3.8 ± 1.7, respectively (95 % CI 0.44-2.13; p = 0.003). There were no significant differences in maternal anxiety levels before and after amniocentesis. CONCLUSION: The VR intervention as a distractive technique emerged as effective in reducing pain during amniocentesis. It is easy to use, relatively inexpensive, has the advantage of no serious side effects, and may decrease the fear of pain that can affect patients' experiences and compliance with this procedure.


Assuntos
Dor Aguda , Realidade Virtual , Amniocentese , Analgésicos , Feminino , Humanos , Medição da Dor , Gravidez
6.
Obstet Gynecol ; 137(6): 1102-1108, 2021 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-33957658

RESUMO

OBJECTIVE: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. METHODS: We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort. RESULTS: Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies. CONCLUSION: Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations.


Assuntos
Síndrome de Down/diagnóstico , Reabsorção do Feto , Teste Pré-Natal não Invasivo , Gravidez Múltipla , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Amniocentese , Âmnio/diagnóstico por imagem , Ácidos Nucleicos Livres/análise , Córion/diagnóstico por imagem , Erros de Diagnóstico , Reações Falso-Negativas , Feminino , Reabsorção do Feto/diagnóstico , Reabsorção do Feto/genética , Genoma Humano , Humanos , Gravidez , Gravidez de Quadrigêmeos , Gravidez de Trigêmeos , Gravidez de Gêmeos , Estudos Retrospectivos , Sensibilidade e Especificidade , Trissomia
7.
J Obstet Gynaecol Res ; 47(8): 2623-2631, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34028130

RESUMO

AIM: To compare effects of cold therapy on patient pain score during and after amniocentesis procedure. METHODS: We performed a prospective randomized-controlled study comparing the anticipated pain, perceived pain during the procedure, and pain after 15 and 30 min of amniocentesis between pregnant women receiving cold therapy before (group 1), after (group 2), and both before and after amniocentesis (group 3) with a control group (group 4). Pain was measured using a visual analog scale (VAS) score. RESULTS: A total of 480 participants were recruited and randomly assigned into four groups of 120 each. Anticipated pain scores in all groups were not statistically different. When compared with group 4, groups 1 and 3 experienced significant pain reduction during amniocentesis, while VAS scores at 15 and 30 min after amniocentesis in groups 1-3 were significantly lower as compared to group 4. CONCLUSION: Cold therapy both before and after amniocentesis procedure is most effective in pain reduction. It encourages the pregnant woman's cooperation during the procedure and provides a good amniocentesis experience. Application of cold compression is also beneficial in other aspects as it is simple, safe, convenient, and yet reusable and economically efficient for routine use in all pregnant women undergoing amniocentesis.


Assuntos
Amniocentese , Manejo da Dor , Crioterapia , Feminino , Humanos , Dor/etiologia , Dor/prevenção & controle , Gravidez , Estudos Prospectivos
8.
PLoS One ; 16(4): e0250734, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33901244

RESUMO

BACKGROUND: Most studies on chromosomal microarray analysis (CMA) and amniocentesis risks have not evaluated pregnancies with low risk for genetic diseases; therefore, the efficacy and safety of CMA and amniocentesis in this population are unclear. This study aimed to examine the benefits and risks of prenatal genetic diagnostic tests in pregnancies having low risk for chromosomal diseases. METHODS AND FINDINGS: In this retrospective study, we used clinical data from a large database of 30,830 singleton pregnancies at gestational age 16-23 weeks who underwent amniocentesis for karyotyping with or without CMA. We collected socio-demographic, medical and obstetric information, along with prenatal screening, CMA and karyotyping results. Fetal loss events were also analysed. CMA was performed in 5,837 pregnancies with normal karyotype (CMA cohort). In this cohort, 4,174 women had normal prenatal screening results and the risk for identifying genetic abnormalities with >10% risk for intellectual disability by CMA was 1:102, with no significant difference between maternal age groups. The overall post-amniocentesis fetal loss rate was 1:1,401 for the entire cohort (n = 30,830) and 1:1,945 for the CMA cohort (n = 5,837). The main limitation of this study is the relatively short follow-up of 3 weeks, which may not have been sufficient for detecting all fetal loss events. CONCLUSION: The low risk for post-amniocentesis fetal loss, compared to the rate of severe genetic abnormalities detected by CMA, suggests that even pregnant women with normal prenatal screening results should consider amniocentesis with CMA.


Assuntos
Transtornos Cromossômicos/diagnóstico , Análise em Microsséries/métodos , Adulto , Amniocentese/efeitos adversos , Aberrações Cromossômicas , Transtornos Cromossômicos/genética , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Bases de Dados Factuais , Feminino , Morte Fetal/etiologia , Idade Gestacional , Humanos , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Fatores de Risco
9.
Med Sci Monit ; 27: e929074, 2021 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-33837172

RESUMO

BACKGROUND In pregnant women with advanced maternal age (AMA) and fetuses with ultrasonographic (USG) soft markers it is always challenging to decide whether to implement chromosomal microarray analysis (CMA) or not. It is unclear whether CMA should be used in the fetuses with isolated USG soft markers, and there is still a lack of extensive sample research. MATERIAL AND METHODS We enrolled 1521 cases in our research and divided them into 3 groups as follows: pregnant women with isolated AMA (group 1, n=633), pregnant women whose fetuses had isolated USG soft markers (group 2, n=750), and pregnant women with AMA whose fetuses had isolated USG soft markers (group 3, n=138). All pregnant women underwent prenatal ultrasound and amniocentesis, and fetal cells in the amniotic fluid were used for genetic analysis of CMA. All participants signed a written informed consent prior to CMA. RESULTS Abnormal findings were detected by CMA in 330 (21.70%) fetuses, including 37 (2.43%) clinically significant copy number variations (CNVs), 52 (3.42%) benign or likely benign CNVs, and 240 (15.78%) variants of unknown significance. The frequency of clinically significant CNVs in group 1 and group 2 were significantly lower than that in group 3 (2.37% and 2.0% vs 5.07%, P<0.01). More than a half (59.46%, 22/37) of the pregnant women decided to continue their pregnancy despite having a fetus diagnosed with clinically significant CNV. CONCLUSIONS CMA can increase the diagnostic yield of fetal chromosomal abnormality for pregnant women with isolated AMA or/and their fetuses had isolated USG soft markers.


Assuntos
Envelhecimento/fisiologia , Cromossomos Humanos/genética , Análise em Microsséries/métodos , Gravidez , Adulto , Amniocentese , Biomarcadores , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Feminino , Feto , Humanos , Idade Materna , Diagnóstico Pré-Natal , Ultrassonografia
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(4): 317-320, 2021 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-33834455

RESUMO

OBJECTIVE: To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test (cfBEST) for the prenatal diagnosis of oculocutaneous albinism type I in a family. METHODS: Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis. The outcome of the pregnancy was followed up. RESULTS: Non-invasive prenatal testing based on cfBEST showed a fetal DNA concentration of 6.6%, with the proportion of c.929_930insC (p.Arg311Lysfs*7) and c.1037-7T>A mutations being 45.7% and 0%, respectively. The posterior frequency of the negative results was 1, suggesting that the fetus carried neither of the two mutations. The result was consistent with that of invasive prenatal diagnosis, and the follow-up found that the fetus was normal. CONCLUSION: Non-invasive prenatal testing based on cfBEST can be used to detect maternal and fetal genotypes in maternal cell-free DNA, which is clinically feasible.


Assuntos
Albinismo Oculocutâneo , Albinismo , Ácidos Nucleicos Livres , Albinismo Oculocutâneo/genética , Amniocentese , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal
11.
Vet Rec ; 188(7): e31, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33835567

RESUMO

BACKGROUND: In humans, analysis of amniotic fluid is widely used for diagnostic and prognostic purposes. Amniocentesis has scarcely been used in veterinary medicine to date, despite a tremendous potential for clinical and research applications in dogs. Our study aimed to establish a safe method for foetal fluid sampling in female dogs. METHODS: Two transabdominal ultrasound-guided methods were assessed: the "free hand" and the needle-guided bracket sampling. In addition, through a subsequent routinely scheduled ovariohysterectomy, fluid was directly collected. Samples from 98 conceptuses were collected at day 46.7 ± 7.5 of pregnancy. RESULTS: The amount of fluid retrieved varied between 0.5 and 5.0 ml per collection. Macroscopic examination of the uterus and conceptuses identified 53% of the puncture sites. Neither fluid leakage nor foetal injury was detected, and six hematomas (5.8%) were visible. Ultrasound-guided foetal fluid collection was found to be potentially safe, and it can be performed by using either transabdominal method. CONCLUSION: Foetal fluid collection is possible with relative ease and low short-term risk, and may open paths for diagnostic, therapeutic and research purposes in dogs. The procedure can provide new insights into prenatal clinical medicine, including diagnostics of foetal deaths, early identification of heritable diseases and so on.


Assuntos
Amniocentese/veterinária , Ultrassonografia de Intervenção/veterinária , Amniocentese/métodos , Animais , Cães , Feminino , Gravidez , Segurança
12.
Genes (Basel) ; 12(3)2021 03 05.
Artigo em Inglês | MEDLINE | ID: mdl-33807602

RESUMO

Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good past health who conceived her pregnancy naturally. Non-invasive prenatal testing (NIPT) showed multiple chromosomal aberrations were consistently detected in two sampling times, which included elevation in DNA from chromosome 9p. Amniocentesis was performed and sent for chromosomal microarray, which was normal. Maternal karyotype revealed that mos 47,XX,+dic(9;9)(q21.1;q21.1)(24)/46,XX(9) presents mosaic tetrasomy for the short arm of chromosome 9p and is related to the NIPT results showing elevation in DNA from chromosome 9p. The pregnancy was uneventful, and the patient was delivered at term. Maternal samples were obtained at two different time points after delivery showed the same multiple chromosomal aberrations detected during pregnancy. This is a first report on an unusual case of mosaic isodicentric tetrasomy 9p in a healthy adult with normal intellect. With widespread adoption of NIPT for screening fetal aneuploidy and genome-wide copy number changes, a rise in incidental detection of maternal rare genetic syndrome will bring challenges in our current approach to genetic counselling and prenatal diagnosis.


Assuntos
Amniocentese/métodos , Cariotipagem/métodos , Adulto , Aneuploidia , China , Cromossomos Humanos Par 9/genética , Feminino , Aconselhamento Genético , Humanos , Achados Incidentais , Mosaicismo , Fenótipo , Gravidez , Diagnóstico Pré-Natal
13.
Taiwan J Obstet Gynecol ; 60(2): 318-323, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33678334

RESUMO

OBJECTIVE: The aim of this work was to characterize the genetic abnormalities and prenatal diagnosis indications in one fetus with Cri-du-Chat syndrome with codependent 10q24.2-q26.3 duplication in prenatal screening. MATERIALS AND METHODS: A 31-year-old woman had a second trimester serum screening that indicated the fetus was at low risk. During this pregnancy, the woman underwent amniocentesis at 18+4 weeks' gestation because of adverse fertility history and nuchal fold thickening. Cytogenetic analysis and next-generation sequencing analysis were simultaneously performed to provide genetic analysis of fetal amniotic fluid. According to abnormal results, parental chromosome karyotype of peripheral blood was performed to analysis. RESULTS: CNV-seq detected a 14.00 Mb deletion at 5p15.33-p15.2 and a 34.06 Mb duplication at 10q24.2-q26.3 in the fetus. Cytogenetic analysis of the fetus revealed a karyotype of 46, XY, der(5) t(5;10) (p15.2;q26.3). The karyotype of pregnant women was 46,XX,t(5;10) (p15.2;q24.2). The pregnancy was subsequently terminated after sufficient informed consent. CONCLUSION: This is the first study that reports prenatal diagnosis of a Cri-du-Chat syndrome with concomitant 10 q24.2-q26.3 duplication. Adverse pregnancy history has to be as an important indicator for prenatal diagnosis, and the genetic factors of abnormal pregnancy should be identified before next pregnancy. Nuchal fold thickening is closely related to fetal abnormalities. Combined with ultrasonography, the use of CNV-seq will improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital anomalies.


Assuntos
Transtornos Cromossômicos/diagnóstico , Síndrome do Miado do Gato/diagnóstico , Trissomia/diagnóstico , Aborto Induzido , Adulto , Amniocentese , Transtornos Cromossômicos/embriologia , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 10/genética , Síndrome do Miado do Gato/embriologia , Síndrome do Miado do Gato/genética , Análise Citogenética , Feminino , Humanos , Cariotipagem , Gravidez , Segundo Trimestre da Gravidez/sangue , Trissomia/genética , Ultrassonografia Pré-Natal
14.
Taiwan J Obstet Gynecol ; 60(2): 331-334, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33678337

RESUMO

OBJECTIVE: We present prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes. CASE REPORT: A 36-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis on cultured amniocytes revealed a karyotype of 46,XY in 20/20 colonies. Simultaneous array comparative genomic hybridization (aCGH) on the DNA extracted from uncultured amniocytes revealed 30% mosaicism for a de novo 20.3-Mb gene dosage increase at 9q13-q21.33. Repeat amniocentesis and cordocentesis were performed at 21 weeks of gestation. Cytogenetic analysis on cord blood revealed a karyotype of 47,XY,+mar [3]/46,XY [37]. aCGH analysis of cord blood revealed 7.5% mosaicism for a 17.15-Mb gene dosage increase at 9q21.11-q21.33. aCGH analysis of uncultured amniocytes revealed 11.7% mosaicism for a 17.15-Mb gene dosage increase at 9q21.11-q21.33. Polymorphic DNA marker analysis excluded uniparental disomy 9. The parental karyotypes were normal. The pregnancy was carried to 37 weeks of gestation, and a 2955-g phenotypically normal male baby was delivered. At birth, the cord blood had a karyotype of 47,XY,+mar [3]/46,XY [37], the placenta had a karyotype of 47,XY,+mar [10]/46,XY [30], and the umbilical cord had a karyotype of 47,XY,+mar [14]/46,XY [36]. aCGH analysis on the DNA extracted from cord blood at birth revealed no genomic imbalance. Interphase fluorescence in situ hybridization analysis on buccal mucosal cells at age two months detected 3.8% (4/106 cells) mosaicism for the sSMC, compared with 2% (2/100 cells) in the normal control. The neonate had normal physical development at age two months. CONCLUSION: Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes may exist in the pregnancy with fetal mosaic sSMC. Low-level mosaicism for an sSMC derived from chromosome 9q13-q21.33 at prenatal diagnosis can be associated with a favorable outcome in the fetus.


Assuntos
Âmnio/citologia , Cromossomos Humanos Par 9/genética , Análise Citogenética , Mosaicismo/embriologia , Diagnóstico Pré-Natal/métodos , Adulto , Amniocentese , Células Cultivadas , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Cariotipagem , Gravidez
15.
Taiwan J Obstet Gynecol ; 60(2): 345-349, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33678340

RESUMO

OBJECTIVE: We present low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR) and a favorable outcome. CASE REPORT: A 31-year-old woman underwent amniocentesis at 24 weeks of gestation because of IUGR. Amniocentesis revealed a karyotype of 47,XX,+16 [3]/46,XX [22]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed gene dosage increase in chromosome 16 consistent with 28% mosaicism for trisomy 16. Uniparental disomy (UPD) 7 and UPD 11 were excluded. She underwent repeat amniocentesis at 27 weeks of gestation. Repeat amniocentesis revealed a karyotype of 47,XX,+16 [1]/46,XX [24]. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed 25%-35% (log2 ratio = 0.17-0.25) mosaicism for trisomy 16. Interphase fluorescence in situ hybridization (FISH) analysis detected trisomy 16 signals in 28/100 (28%) uncultured amniocytes. Polymorphic DNA marker analysis excluded UPD 16. Level II ultrasound revealed no fetal abnormalities except symmetric IUGR. The pregnancy was continued to 37 weeks of gestation, and a 2306-g phenotypically normal baby was delivered. The cord blood had a karyotype of 46, XX in 50/50 lymphocytes. The umbilical cord had a karyotype of 47,XX,+16 [14]/46,XX [36]. Interphase FISH analysis on buccal mucosal cells and urinary cells at age three days revealed trisomy 16 signals in 3.8% (4/106) buccal mucosal cells and 6.5% (7/107) urinary cells, compared with 1% in the normal control. Polymorphic DNA marker analysis on placenta confirmed trisomy 16 in the placenta and a maternal origin of the extra chromosome 16. CONCLUSION: Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes may present in mosaic trisomy 16 at amniocentesis. Low-level mosaicism for trisomy 16 at amniocentesis without maternal UPD 16 can be associated with a favorable outcome despite the presence of IUGR.


Assuntos
Amniocentese , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/genética , Mosaicismo/embriologia , Trissomia/diagnóstico , Adulto , Cromossomos Humanos Par 16/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Cariotipagem , Nascido Vivo , Gravidez , Trissomia/genética
16.
Taiwan J Obstet Gynecol ; 60(2): 350-354, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33678341

RESUMO

OBJECTIVE: The objective of this study was to report the first case of prenatal diagnosis of the fetal 20p13 microdeletion syndrome in the literature. CASE REPORT: The mother was 31 years old and had a first trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 23 weeks of gestation showed mild ventriculomegaly (10.2 mm) and absent septum pellucidum. She underwent amniocentesis because of the abnormal imaging results. Karyotype analysis revealed normal results. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the fetus and parents. CMA detected 317.902 kb deletion of 20p13 in fetus. Finally, pregnancy was terminated at 32 weeks of gestation. CONCLUSION: This study is the first to report the prenatal diagnosis of a 20p13 microdeletion syndrome. Our results further confirmed that genes in this region, including SOX12, NRSN2 are essential for normal fetal growth and TBC1D20 for normal brain development.


Assuntos
Transtornos Cromossômicos/diagnóstico , Diagnóstico Pré-Natal/métodos , Aborto Induzido , Adulto , Amniocentese , Deleção Cromossômica , Transtornos Cromossômicos/embriologia , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 20/genética , Feminino , Humanos , Cariotipagem , Gravidez
19.
BMJ Case Rep ; 14(3)2021 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-33653854

RESUMO

Triploidy is currently understood as a sporadic genetic disorder, with no recognisable risk of recurrence nor identifiable risk factors. In cases of triploidy, chances of thriving through the second trimester of fetal development are very slim, with most of these pregnancies ending as early miscarriage. We report a case of repeated triploid pregnancies in the same woman, from different fathers, achieving the second trimester of pregnancy; elective termination was decided in both cases, after an amniocentesis revealing a triploid karyotype. Both triploid pregnancies are described and compared; prenatal laboratorial markers, sonographic features, clinical course and pathological findings are analysed and matched with fetal autopsy and placental pathological study. Reported findings strongly point to recurrent triploidy of maternal origin, and so the possibility of a genetic predisposition should be considered. Investigation is required to assess the presence of an underlying genetic mechanism in this setting, thus enabling a better genetic/obstetric counselling.


Assuntos
Amniocentese , Triploidia , Feminino , Humanos , Cariotipagem , Gravidez , Segundo Trimestre da Gravidez , Cuidado Pré-Natal
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