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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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.

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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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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.