Cases reported "Fetal Death"

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11/50. trisomy 10: ultrasound features and natural history after first trimester diagnosis.

    We report on the ultrasound features and natural history of trisomy 10. At 12 weeks' gestation in a routine scan examination, the fetus presented with increased nuchal translucency thickness, mild skin oedema, bilateral pleural effusion, marked micrognathia, cardiomegaly, unilateral talipes and reversed A-wave in the ductus venosus blood flow. karyotyping on chorionic villus sampling (CVS) led to the diagnosis of trisomy 10, which was confirmed by fetal blood sampling at 22 weeks' gestation. As the parents opted to continue with the pregnancy, the natural history and following ultrasound features are described. This is the third case of trisomy 10 in the literature reporting on the physical features. The most frequent ultrasound findings presented in trisomy 10 are increased nuchal translucency, micrognathia, renal agenesis, facial cleft, limbabnormalities, cardiac defects and early severe growth retardation.
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ranking = 1
keywords = trisomy
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12/50. prenatal diagnosis of fetal bladder outlet obstruction at Songklanagarind Hospital: report of 5 cases.

    Five cases of fetal bladder outlet obstruction prenatally diagnosed in the perinatology Unit, Department of obstetrics and Gynaecology, Songklanagarind Hospital, Songkhla, from January 1990 to September 1999 were reported. Ultrasound findings demonstrated megacystis, various degrees of hydroureter and hydronephrosis and oligohydramnios. sex could be determined in only four cases and all were male. Chromosome abnormality (trisomy 18) was documented in one case. Postmortem results in three cases established that posterior urethral valves were the cause of obstruction. All cases in our series had poor outcome based on gestational age at first diagnosis, sonographic findings, fetal urinalysis, and chromosome abnormality. Four cases underwent termination of pregnancy and the other resulted in a dead fetus in utero. The outcome of some cases may be improved by using the vesicoamniotic shunt placement procedure that increases the likelihood of fetal survival. Therefore, the recommendation is to establish this procedure at Songklanagarind Hospital in the future.
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ranking = 0.25
keywords = trisomy
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13/50. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child.

    We here describe a submicroscopic translocation affecting the subtelomeric regions of chromosomes 2q and 16q, and segregating in a family with stillbirths, early pregnancy losses, and two dysmorphic and slightly retarded babies. FISH analysis showed a 46,XY,der(2)t(2;16)(q37.3;q24.3) in the propositus, and a balanced t(2;16) in his mother, her conceptus and maternal grandfather. FISH with YACs and BACs made it possible to map the 2q37 breakpoint precisely between the regions covered by y952E1 and y746H1, and the 16q breakpoint between the regions encompassed by bA 309g16 and bA 533d19. The contribution of 2q37.3 monosomy and 16q24.3 trisomy to the proband's phenotype is compared with that in reported patients with similar imbalances of either chromosome.
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ranking = 0.25
keywords = trisomy
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14/50. De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly.

    Interstitial duplications of chromosomal region 1q are rarely seen. We report the first prenatal diagnosis of pure partial trisomy 1q. The fetus was karyotyped for polyhydramnios, micrognathia, and flexion of fingers of both hands. Conventional and molecular cytogenetics showed a de novo direct duplication of the chromosomal region 1q23.1q31.1 leading to a partial trisomy 1q. At autopsy, the fetus showed Pierre Robin sequence (PRS) and camptodactyly. The main histological finding was a decreased number of motoneurons with apoptotic features in the anterior horn of the spinal cord. A literature review and our observations suggest that genetic material mapping to chromosome 1q25 could be responsible for PRS with distal arthrogryposis when this is in triple dose.
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ranking = 0.54651811494003
keywords = trisomy, partial trisomy
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15/50. Clinical, cytogenetic, and molecular findings in 45,X/47,XX, 18 mosaicism: clinical report and review of the literature.

    We report cytogenetic and molecular findings performed in a patient with double mosaic aneuploidy. Chromosome analysis of amniotic fluid cells from a 17-week-old fetus was performed because of advanced maternal age. Two karyotypes were detected: 45,X and 47,XX, 18 (50:50%). The same cell lines were determined in uncultured and cultured amniocytes of a second amniotic fluid sample, in fetal lymphocytes, and in uncultured and cultured cells of achilles tendon by conventional cytogenetics and fluorescence in situ hybridization (FISH). In the different investigated tissues, the percentage of cells with 45,X karyotype ranged from 20-99% and the percentage of cells with 47,XX, 18 ranged from 1-80%. The pregnancy was terminated at 22 0 weeks because of a severe cardiac malformation. Pathologic examination showed a fetus with aspects typical for manifestation of trisomy 18 and monosomy X, especially in the internal organs. The parent and cell stage of origin was determined by short tandem repeat typing and revealed a maternal meiotic division error that led to trisomy 18, as well as a somatic loss of a paternal sex chromosome. Only two other patients with the same mosaicism have been reported so far. genetic counseling and prognosis remains challenging.
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ranking = 0.5
keywords = trisomy
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16/50. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.

    Paternal duplications of distal 11p result in Beckwith Wiedemann syndrome (BWS), whereas maternal duplications have not, to our knowledge, been reported previously in the literature. We present three unrelated patients with maternal duplications of distal 11p. Patient 1 is a 31-year-old female with a de novo inverted duplication of distal 11p, i.e. inv dup del(11)(qter-->p15.5::p15.5-->15.3); this rearrangement was shown to be maternal in origin by microsatellite analysis and methylation-specific polymerase chain reaction. Patient 2 is a 4-year-old female with a derived chromosome 20, which arose from adjacent 1 malsegregation of a maternal t(11;20)(p15.3;q13.33). Patient 3 presented as an intrauterine death with trisomy for the majority of chromosome 11p as a result of 3:1 segregation of a maternal t(11;15)(p11.2;q11.2). In view of the imprinted status of this region, it is pertinent that none of our patients showed features of BWS; indeed, all had growth retardation, in contrast to the overgrowth characteristic of BWS. It is of note that, of the living patients, Patient 1 went into early puberty at 9.5 years and Patient 2 showed breast development in infancy. Both patients shared some dysmorphological features, namely short palpebral fissures, a prominent nasal tip, a short philtrum and 5th finger clinodactyly.
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ranking = 0.25
keywords = trisomy
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17/50. prenatal diagnosis of dilated coronary sinus with persistent left superior vena cava in a fetus with trisomy 18.

    A case of dilated coronary sinus with persistent left superior vena cava diagnosed at 33 weeks in a fetus with trisomy 18 is reported. The features of this cardiac anomaly on prenatal ultrasonography and its association with trisomy 18 are discussed. Published in 2003 John Wiley & Sons, Ltd.
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ranking = 1.5
keywords = trisomy
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18/50. Anomalies of the auditory organ in trisomy 18 syndrome: human temporal bone histopathological study.

    The purpose of this study was to define the histopathological changes in the temporal bone of a fetus with trisomy 18 syndrome, a stillborn due to perosplanchnia. Several anomalies were found including malformation of the auditory ossicles, residual mesenchyme in the middle ear, aberrant tensor tympani muscle, absence of stapedial tendon, aberrant lateral ampullary nerve and wide endolymphatic sinus. The incus body was deformed and separated from the long process by connective tissue and monocrural stapes was noted in the right ear. Three-dimensional reconstruction images provided a clear view of the auditory ossicle malformation. The abnormal findings in our case indicate that ear anomalies in this syndrome might be derived from the component around the first and second branchial arches.
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ranking = 1.25
keywords = trisomy
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19/50. Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions.

    We report a young woman who presented with a reproductive history of three recurrent spontaneous abortions (RSA) and two neonatal deaths. comparative genomic hybridization (CGH) was used to determine the chromosomal composition of the patient's last miscarriage. It showed the presence of monosomy for the distal end of chromosome 2 long arm (segment 2q37.2 to qter) and trisomy for the distal end of chromosome 17 long arm (segment 17q25 to qter). The mother was found to be a carrier for a cryptic translocation between chromosomes 2 and 17 long arms by fluorescence in situ hybridization using a subtelomeric probe for 17q. Retrospective CGH analysis on one baby who died neonatally showed that he had inherited the maternal translocation in the same unbalanced state as the last pregnancy loss. His detailed postmortem examination is reported.
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ranking = 0.25
keywords = trisomy
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20/50. Transcervical fetoscopic diagnosis of structural defects in four first-trimester monochorionic twin intrauterine deaths.

    OBJECTIVE: While chromosomal abnormalities are often the cause of early failed pregnancies, other mechanisms could be involved in monochorionic twin intrauterine deaths, that might be screened for careful morphological analysis. methods: Transcervical fetoscopy prior to instrumental evacuation of the uterus was performed in four first-trimester monochorionic twin intrauterine deaths. RESULTS: We present fetoscopic and cytogenetic findings in four cases of monochorionic twin intrauterine deaths. In the first, generalized abnormal embryonic development observed in both twins was a manifestation of trisomy 20. The second (thoracophagus) and third (acardius) pair of twins had anomalies peculiar to multiple gestations. The fourth pair of twins was remarkable because of the concordance for the observed limb-reduction defects. CONCLUSION: Malformations of first-trimester monochorionic twin intrauterine deaths might cover a wide spectrum of etiologies from abnormal chromosomes and single gene defects to rare duplication anomalies. Their detection by careful morphological analysis and the identification of a specific mechanism provides valuable information for genetic counseling and prenatal investigation in a future pregnancy.
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ranking = 0.25
keywords = trisomy
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