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Congenital pulmonary airway malformation associated with mosaic Klinefelter syndrome
Author(s) -
Holubyeva Anastasiya,
Bracero Luis A.,
Feuerstein Jessica L.,
Bush Steven
Publication year - 2020
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.22777
Subject(s) - medicine , fetus , amniocentesis , klinefelter syndrome , abnormality , prenatal diagnosis , lung , gestation , pathology , anatomy , pregnancy , pediatrics , genetics , biology , psychiatry
Abstract A 26‐year‐old female, G4 P2012 presented for an anatomy scan at 18 weeks. Multiple macrocysts were seen in the left fetal lung, which lead to a diagnosis of congenital pulmonary airway malformation (CPAM) type II. A fetal MRI examination performed at 24 weeks of gestation confirmed the diagnosis of CPAM type II. A genetic amniocentesis was done to rule out a fetal chromosomal abnormality and the fetus was found to have mosaic Klinefelter syndrome. Fetal CPAM is not usually associated with chromosomal abnormalities unless there are other fetal malformations present. This is the first known case where a fetus with CPAM and no other malformation was found to have mosaic Klinefelter syndrome. Therefore, we believe it is prudent to offer prenatal diagnostic testing whenever a fetus with CPAM is identified with ultrasound.