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… 
View on Taylor & Francis
ncbi.nlm.nih.gov
12 Citations
Background Citations
3

12 Citations

Mosaic Trisomies 8, 9, and 16

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.

Dental management of a child with trisomy 9 mosaicism: a case report.

TLDR
Emphasis was placed on the need to adjust the treatment to patient's skeletal malformations and respiratory problems by adjusting her ability to sit in the dental chair in an upright position as well as initial treatment under general anesthesia and further treatments using conscious sedation.

Actualización en el diagnóstico prenatal de arteria umbilical única

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.

Diagnóstico prenatal de trisomía 9 en mosaico en el segundo trimestre de la gestación

References

SHOWING 1-10 OF 40 REFERENCES

Complete trisomy 9: case report with ultrasound findings.

  • 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.

Isolated fetal choroid plexus cysts and trisomy 18: a review and meta-analysis.

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.

Fetal micrognathia: associated anomalies and outcome.

  • B. BromleyB. Benacerraf
  • Medicine
    Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
  • 1994
TLDR
The diversity of the syndromes represented in cases of micrognathia indicates a wide breadth of possible diagnoses when micrognATHia is encountered prenatally, with survival of only four of 20 fetuses in this report.

Prenatal diagnosis of trisomy 9

TLDR
A male karyotype with trisomy 9 (47,XY,+9) was identified in amniotic fluid cells from a 40-year-old pregnant woman and the cytogenetic diagnosis was confirmed in a cell line grown from placental tissue.