Prenatal cytogenetic diagnosis from fetal urine in lower urinary tract obstruction

Sina Haeri; Simone Hernandez Ruano; Leila M.S. Farah; Raquel Joffe; Rodrigo Ruano

doi:10.1111/cga.12007

Prenatal cytogenetic diagnosis from fetal urine in lower urinary tract obstruction

Sina Haeri, Simone Hernandez Ruano, Leila M.S. Farah, Raquel Joffe, Rodrigo Ruano

Medical GYN and Obstetrics

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

The aim of this study was to test if prenatal cytogenetic diagnosis can be performed on fetal urine in fetal lower urinary tract obstruction. In this retrospective cohort study of fetuses with lower urinary tract obstruction (LUTO) over a 4-year period at one institution, cytogenetic evaluation was attempted on fetal urine samples as well as amniotic fluid specimens. A total of 11 cases, ranging in gestational age from 15 to 25 weeks, underwent amniocentesis and vesicocentesis. Traditional cytogenetic evaluation was successfully completed in amniotic fluid and fetal urine samples in all 11 cases (100%). The karyotype was normal in seven (64%), trisomy 21 in two (18%), Trisomy 13 in one (9%), and partial chromosome 4 deletion in one (9%). Traditional cytogenetic evaluation can be successfully performed on fetal urine samples in cases of lower urinary tract obstruction.

Original language	English (US)
Pages (from-to)	89-91
Number of pages	3
Journal	Congenital Anomalies
Volume	53
Issue number	2
DOIs	https://doi.org/10.1111/cga.12007
State	Published - Jun 2013

Keywords

Fetal karyotype
Lower urinary tract obstruction
Posterior urethral valve
Urethral atresia
Vesicocentesis

ASJC Scopus subject areas

Medicine(all)

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10.1111/cga.12007

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title = "Prenatal cytogenetic diagnosis from fetal urine in lower urinary tract obstruction",

abstract = "The aim of this study was to test if prenatal cytogenetic diagnosis can be performed on fetal urine in fetal lower urinary tract obstruction. In this retrospective cohort study of fetuses with lower urinary tract obstruction (LUTO) over a 4-year period at one institution, cytogenetic evaluation was attempted on fetal urine samples as well as amniotic fluid specimens. A total of 11 cases, ranging in gestational age from 15 to 25 weeks, underwent amniocentesis and vesicocentesis. Traditional cytogenetic evaluation was successfully completed in amniotic fluid and fetal urine samples in all 11 cases (100%). The karyotype was normal in seven (64%), trisomy 21 in two (18%), Trisomy 13 in one (9%), and partial chromosome 4 deletion in one (9%). Traditional cytogenetic evaluation can be successfully performed on fetal urine samples in cases of lower urinary tract obstruction.",

keywords = "Fetal karyotype, Lower urinary tract obstruction, Posterior urethral valve, Urethral atresia, Vesicocentesis",

author = "Sina Haeri and Ruano, {Simone Hernandez} and Farah, {Leila M.S.} and Raquel Joffe and Rodrigo Ruano",

year = "2013",

month = jun,

doi = "10.1111/cga.12007",

language = "English (US)",

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pages = "89--91",

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T1 - Prenatal cytogenetic diagnosis from fetal urine in lower urinary tract obstruction

AU - Haeri, Sina

AU - Ruano, Simone Hernandez

AU - Farah, Leila M.S.

AU - Joffe, Raquel

AU - Ruano, Rodrigo

PY - 2013/6

Y1 - 2013/6

N2 - The aim of this study was to test if prenatal cytogenetic diagnosis can be performed on fetal urine in fetal lower urinary tract obstruction. In this retrospective cohort study of fetuses with lower urinary tract obstruction (LUTO) over a 4-year period at one institution, cytogenetic evaluation was attempted on fetal urine samples as well as amniotic fluid specimens. A total of 11 cases, ranging in gestational age from 15 to 25 weeks, underwent amniocentesis and vesicocentesis. Traditional cytogenetic evaluation was successfully completed in amniotic fluid and fetal urine samples in all 11 cases (100%). The karyotype was normal in seven (64%), trisomy 21 in two (18%), Trisomy 13 in one (9%), and partial chromosome 4 deletion in one (9%). Traditional cytogenetic evaluation can be successfully performed on fetal urine samples in cases of lower urinary tract obstruction.

AB - The aim of this study was to test if prenatal cytogenetic diagnosis can be performed on fetal urine in fetal lower urinary tract obstruction. In this retrospective cohort study of fetuses with lower urinary tract obstruction (LUTO) over a 4-year period at one institution, cytogenetic evaluation was attempted on fetal urine samples as well as amniotic fluid specimens. A total of 11 cases, ranging in gestational age from 15 to 25 weeks, underwent amniocentesis and vesicocentesis. Traditional cytogenetic evaluation was successfully completed in amniotic fluid and fetal urine samples in all 11 cases (100%). The karyotype was normal in seven (64%), trisomy 21 in two (18%), Trisomy 13 in one (9%), and partial chromosome 4 deletion in one (9%). Traditional cytogenetic evaluation can be successfully performed on fetal urine samples in cases of lower urinary tract obstruction.

KW - Fetal karyotype

KW - Lower urinary tract obstruction

KW - Posterior urethral valve

KW - Urethral atresia

KW - Vesicocentesis

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Prenatal cytogenetic diagnosis from fetal urine in lower urinary tract obstruction

Abstract

Keywords

ASJC Scopus subject areas

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