Fetal diagnosis and therapy · 2016
Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
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Pico Harmony, Mancini Julien, Lafouge Antoine, Bault Jean-Philippe, Gorincour Guillaume, Quarello Edwin
Аннотация
OBJECTIVE: The objective of this study was to determine the frequency and the nature of associated anomalies, especially malformations and chromosome abnormalities, in a population of fetuses with an aberrant right subclavian artery (ARSA).
MATERIALS AND METHODS: This is a 7-year descriptive study. All patients whose fetus had an ARSA diagnosed by ultrasound performed during the 1st, 2nd, or 3rd trimester of pregnancy were included, regardless of their risk of chromosomal abnormalities.
RESULTS: Between May 2007 and April 2014, an ARSA was diagnosed in 120 fetuses. The outcome was found in 108 cases (90%). ARSA was an isolated finding in 54/108 cases (50%). In 20% (22/108) of the fetuses, chromosomal abnormalities were detected. No chromosomal abnormalities were found in fetuses with an isolated ARSA. 82% (18/22) of chromosomal abnormalities were usual, such as trisomies 21 and 18, monosomy X, and 22q11.2 deletion. 21% (23/108) of the fetuses presenting an ARSA were associated with having a congenital heart disease.
CONCLUSION: The presence of an isolated ARSA is a condition rarely associated with a chromosomal abnormality. The decision to perform an invasive karyotyping procedure under such circumstances or not may be made according to the principle of parental autonomy after extensive counselling and mostly a thorough assessment of the fetus.
MATERIALS AND METHODS: This is a 7-year descriptive study. All patients whose fetus had an ARSA diagnosed by ultrasound performed during the 1st, 2nd, or 3rd trimester of pregnancy were included, regardless of their risk of chromosomal abnormalities.
RESULTS: Between May 2007 and April 2014, an ARSA was diagnosed in 120 fetuses. The outcome was found in 108 cases (90%). ARSA was an isolated finding in 54/108 cases (50%). In 20% (22/108) of the fetuses, chromosomal abnormalities were detected. No chromosomal abnormalities were found in fetuses with an isolated ARSA. 82% (18/22) of chromosomal abnormalities were usual, such as trisomies 21 and 18, monosomy X, and 22q11.2 deletion. 21% (23/108) of the fetuses presenting an ARSA were associated with having a congenital heart disease.
CONCLUSION: The presence of an isolated ARSA is a condition rarely associated with a chromosomal abnormality. The decision to perform an invasive karyotyping procedure under such circumstances or not may be made according to the principle of parental autonomy after extensive counselling and mostly a thorough assessment of the fetus.