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State‐wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non‐invasive prenatal testing for sex chromosome conditions
Author(s) -
Loughry Lulu,
Pynaker Cecilia,
White Mary,
Halliday Jane,
Hui Lisa
Publication year - 2023
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.6103
Subject(s) - chorionic villus sampling , amniocentesis , prenatal diagnosis , klinefelter syndrome , medicine , obstetrics , gynecology , pregnancy , fetus , genetics , biology , pediatrics
Background To analyze population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) since the availability of non‐invasive prenatal testing (NIPT). Methods Retrospective state‐wide data for all prenatal diagnoses performed <25 weeks gestation from 2005 to 2020 in Victoria, Australia. Non‐invasive prenatal testing became locally available from 2012. The prenatal diagnosis rates of SCA as proportions of all prenatal diagnostic tests and all births were calculated. Statistical significance was assessed with the χ 2 test for trend, with p < 0.05 considered significant. Results 46,518 amniocentesis and chorionic villus sampling were performed during the study period, detecting 617 SCAs. There was a significant increase in the rate of prenatal SCAs from 5.8 per 10,000 births in 2005 to 8.7 per 10,000 births in 2020 ( p < 0.0001). This increase was predominantly due to 47,XXY cases, 91% of which were ascertained via positive NIPT for this condition in 2020. The prenatal diagnosis rate of 47,XXY significantly increased from 0.8 per 10,000 births in 2005 to 4.3 per 10,000 births in 2020 ( p < 0.0001). Conclusion Screening for SCAs using NIPT has directly led to an increase in their prenatal diagnosis on a population‐wide basis, especially 47,XXY. This has implications for clinician education, genetic counselling, and pediatric services.