Prenatal phenotype of 47, XXY (Klinefelter syndrome).
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
02 2023
02 2023
Historique:
revised:
16
10
2021
received:
26
07
2021
accepted:
24
11
2021
pmc-release:
01
02
2024
pubmed:
8
12
2021
medline:
17
2
2023
entrez:
7
12
2021
Statut:
ppublish
Résumé
There is a paucity of knowledge regarding the prenatal presentation of Klinefelter syndrome, or 47, XXY. Accurate prenatal counseling is critical and in utero diagnosis is currently limited by a poor understanding of the prenatal phenotype of this condition. This is a case series of fetuses with cytogenetically confirmed 47, XXY in the prenatal period or up to age 5 years, with prenatal records available for review from four academic institutions between 2006 and 2019. Ultrasound reports were reviewed in detail to assess for increased nuchal translucency and structural abnormalities. Additionally, we reviewed results of cell-free DNA and serum analyte testing when performed to inform our understanding of the detection of fetal 47, XXY through standard genetic screening tests. Forty-one cases with confirmed cytogenetic diagnosis of 47, XXY and prenatal records available for review were identified: 37 had a prenatal diagnosis and 4 had a postnatal diagnosis. Nuchal translucency was increased ≥3.0 mm in 23.1% (6/26) of cases with a documented measurement. In 29.2% (7/24) of cases with a second trimester anatomical ultrasound available for review, a fetal abnormality was identified (3 brain anomalies, 1 cardiac abnormality, 1 echogenic bowel, and 2 limb abnormalities). Among those who had cell-free DNA and serum analytes performed, 92.6% (25/27) and 36.3% (4/11) had an abnormal result respectively. This case series expands our knowledge of the prenatal presentation of 47, XXY by identifying first and second trimester fetal sonographic abnormalities. Prenatal identification of this condition enables accurate counseling, focused prenatal management, and early postnatal interventions to ameliorate some of the known complications.
Identifiants
pubmed: 34874073
doi: 10.1002/pd.6071
pmc: PMC9170827
mid: NIHMS1765897
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
207-212Subventions
Organisme : NICHD NIH HHS
ID : K12 HD001262
Pays : United States
Organisme : NIDDK NIH HHS
ID : K23 DK119949
Pays : United States
Organisme : NICHD NIH HHS
ID : K23 HD088742
Pays : United States
Organisme : Fetal Health Foundation
Organisme : NIH HHS
ID : 5K12HD001262-18
Pays : United States
Organisme : Brianna Marie Foundation
Organisme : NIH HHS
ID : K23HDD088742
Pays : United States
Organisme : NIH HHS
ID : 5K23DK119949-02
Pays : United States
Informations de copyright
© 2021 John Wiley & Sons Ltd.
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