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Congenital pulmonary airway malformation associated with mosaic Klinefelter syndrome.

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.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Zucker School of Medicine at Hofstra/Northwell, Southside Hospital, Bay Shore, New York.Department of Obstetrics and Gynecology, Zucker School of Medicine at Hofstra/Northwell, Southside Hospital, Bay Shore, New York. Department of Obstetrics and Gynecology, West Virginia University, Charleston, West Virginia.Hackensack University Medical Center, Hackensack, New Jersey.Department of Obstetrics and Gynecology, West Virginia University, Charleston, West Virginia.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31566736

Citation

Holubyeva, Anastasiya, et al. "Congenital Pulmonary Airway Malformation Associated With Mosaic Klinefelter Syndrome." Journal of Clinical Ultrasound : JCU, 2019.
Holubyeva A, Bracero LA, Feuerstein JL, et al. Congenital pulmonary airway malformation associated with mosaic Klinefelter syndrome. J Clin Ultrasound. 2019.
Holubyeva, A., Bracero, L. A., Feuerstein, J. L., & Bush, S. (2019). Congenital pulmonary airway malformation associated with mosaic Klinefelter syndrome. Journal of Clinical Ultrasound : JCU, doi:10.1002/jcu.22777.
Holubyeva A, et al. Congenital Pulmonary Airway Malformation Associated With Mosaic Klinefelter Syndrome. J Clin Ultrasound. 2019 Sep 30; PubMed PMID: 31566736.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital pulmonary airway malformation associated with mosaic Klinefelter syndrome. AU - Holubyeva,Anastasiya, AU - Bracero,Luis A, AU - Feuerstein,Jessica L, AU - Bush,Steven, Y1 - 2019/09/30/ PY - 2019/04/18/received PY - 2019/07/27/revised PY - 2019/08/21/accepted PY - 2019/10/1/entrez PY - 2019/10/1/pubmed PY - 2019/10/1/medline KW - Klinefelter's syndrome KW - congenital cystic adenomatoid malformation (CCAM) KW - congenital pulmonary airway malformation (CPAM) KW - obstetrics KW - ultrasound JF - Journal of clinical ultrasound : JCU JO - J Clin Ultrasound N2 - 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. SN - 1097-0096 UR - https://www.unboundmedicine.com/medline/citation/31566736/Congenital_pulmonary_airway_malformation_associated_with_mosaic_Klinefelter_syndrome L2 - https://doi.org/10.1002/jcu.22777 DB - PRIME DP - Unbound Medicine ER -