Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review

@article{Stipoljev2003AntenatalDO,
  title={Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review},
  author={Feodora Stipoljev and Milan Kos and Berivoj Mi{\vs}kovi and Ratko Matijevi{\'c} and Tomislav Hafner and Asim Kurjak},
  journal={The Journal of Maternal-Fetal \& Neonatal Medicine},
  year={2003},
  volume={14},
  pages={65 - 69}
}
This paper presents a fetus with mosaic trisomy 9 diagnosed by chorionic villus sampling and confirmed by cordocentesis, and compares this case with published cases in order better to define the ultrasound markers confined to trisomy 9 syndrome. Detailed fetal ultrasound examination was carried out, revealing shortened femur, placental cysts and oligohydramnios. All published trisomy 9 cases with abnormal ultrasound findings were extracted from the MEDLINE database in the period from 1973 to… 
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12 Citations
Background Citations
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12 Citations

Mosaic Trisomies 8, 9, and 16
Complete trisomy of chromosome 9: karyotyping and morphological alterations in newborn
TLDR
This is the second case of 47XX + 9 in Brazil and the detection of morphological changes caused by rare syndromes during pregnancy may help in diagnosis and appropriate clinical management because they direct families to genetic tests that can essential for the future of gestation.
Severe micrognathia in the first trimester in complete trisomy 9 - a case report and literature review
TLDR
A case of complete trisomy 9 diagnosed after chorionic villus sampling performed because of the detection of severe micrognathia at 13 weeks gestation is presented.
Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.
Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses.
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines
TLDR
The findings expand the clinical phenotype of T9M, including novel features of amblyopia, astigmatism, corectopia of pupil, posterior embryotoxon, and diaphragmatic eventration.
Clinical manifestations in trisomy 9
TLDR
The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also webbed neck, characteristic of this trisomy 9 syndrome.
Diagnóstico prenatal de trisomía 9 en mosaico en el segundo trimestre de la gestación
Mosaicismo de trisomía 9: caso de larga supervivencia
TLDR
Su diagnostico en sujetos con anomalias fenotipicas, para dar informacion correcta a los padres en orden a su pronostico y a the futura descendencia, es importante la mayor dificultad diagnostica de los mosaicismos.
Actualización en el diagnóstico prenatal de arteria umbilical única
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References

SHOWING 1-10 OF 40 REFERENCES
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  • R. Mcduffie
  • Medicine
    American journal of perinatology
  • 1994
TLDR
A 29-year-old gravida III, para II was referred at 34 weeks because of abnormal ultrasound findings, which included intrauterine growth retardation, Dandy-Walker malformation, a single atrium, liver calcifications, a two-vessel cord, and abnormal Doppler studies.
Prenatal diagnosis of trisomy 9 mosaicism: Two new cases
TLDR
It is concluded that echographic indicators are a very useful tool for a correct prenatal diagnostic interpretation of trisomy 9 and fetal cord blood cytogenetic analysis may not be considered as providing an accurate diagnosis of fetal trisome 9.
Prenatal Diagnosis of Nonmosaic Trisomy 9 in a Fetus with Severe Renal Disease
TLDR
It is demonstrated that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome.
An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis
We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a…
Prenatal detection of trisomy 9 mosaicism
TLDR
Cytogenetic studies of cell cultures derived from several fetal tissues demonstrated trisomy 9 ranging from 12 to 24 per cent, andfetal autopsy following elective pregnancy termination revealed several malformations including severe micrognathia, persistence of the left superior vena cava, and skeletal anomalies.
Trisomy 9 confined to the placenta: prenatal diagnosis and neonatal follow-up.
Chorionic villus sampling (CVS), performed on a woman in the 23rd menstrual week because of bilateral fetal hydronephrosis and suspected intrauterine growth retardation (IUGR), documented trisomy 9…
Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature.
TLDR
Results suggest that earlier reports of trisomy 9, which relied on conventional chromosome analysis of a few metaphase cells and/or only one tissue type, may not have excluded mosaicism, and that tr isomy 9 may be viable only in the mosaic state.
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy
TLDR
This case is the second report of maternal uniparental disomy for chromosome 9 detected prenatally and is the first case followed up post‐term, highlighting the difficulty of making informed prognostic assessments in such cases despite extensive laboratory investigation.
Trisomy 9: review and report of two new cases.
TLDR
A recognizable trisomy 9 phenotype was identified and included a "bulbous" nose, microphthalmia, and dislocated limbs and a meiotic origin with loss of a trisomic cell line in mosaic cases is suggested.
Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies
TLDR
A cytogenetic survey and follow-up studies were performed in eight cases of full, mosaic, and pseudomosaic trisomy 9 prenatally diagnosed and retrospective DNA analysis showed the supernumerary chromosome 9 to be of maternal origin.
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