Recenzija, Prikaz slučaja

https://doi.org/10.20471/acc.2026.65.03.16

Fetal Sex Discrepancy Between Non-Invasive Prenatal Testing and Ultrasound: A Retrospective Five-Year Study

Feodora Stipoljev ; Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh“, Zagreb, Croatia; Faculty of Medicine, University of Osijek, Osijek, Croatia
Ana Vičić ; Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh“, Zagreb, Croatia; University of Applied Health Sciences, Zagreb, Croatia
Ivana Omazić ; Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh“, Zagreb, Croatia *
Berivoj Mišković ; Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh“, Zagreb, Croatia; Faculty of Medicine, University of Zagreb, Zagreb, Croatia
Luca Lovrečić ; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia
Romana Gjergja-Juraški ; Faculty of Medicine, University of Osijek, Osijek, Croatia; Children’s Hospital Srebrnjak, Zagreb, Croatia
Ivanka Bekavac Vlatković ; Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh“, Zagreb, Croatia; Faculty of Medicine, University of Zagreb, Zagreb, Croatia

* Dopisni autor.

Sažetak

The objective of this study was to investigate discordances in fetal sex between
non-invasive prenatal testing (NIPT) and ultrasound, including established causes
and other clinical findings.
Cases in which both NIPT and a routine mid-trimester fetal ultrasound scan
were conducted were reviewed. When a discordance between NIPT and fetal sex
reported on ultrasound was observed, further cytogenomic testing was done.
Among 3 320 cases in which both NIPT and a second trimester ultrasound
scan were conducted (between 2018 and 2022), discordance was reported in
2 cases (0.06%). In the first, NIPT indicated the female sex, while the fetal ultrasound
showed male external genitalia and isolated Blake’s pouch cyst. Cytogenetic
evaluation revealed a mosaic karyotype with six different cell lines with various
abnormalities of sex chromosomes. In the second case, ultrasonography
was unremarkable with apparently normal female external genitalia, while NIPT
indicated the male sex. Karyotype, FISH and aCGH on amniocytes implicated
monosomy X.
Considering the disorders of sexual differentiation, it is of great importance
to evaluate the concordance between fetal sex reported by NIPT and ultrasound
as a part of the routine second trimester genetic sonogram. Establishing an adequate
diagnosis in the early prenatal period is a key step of providing precise
information to parents. This involves a multi-team approach in tertiary centers.

Ključne riječi

Blake’s pouch cyst; Fetal sex; Gonadal dysgenesis; Non-invasive prenatal testing

Hrčak ID:

351398

URI

https://hrcak.srce.hr/351398

Datum izdavanja:

28.9.2026.

Podaci na drugim jezicima: hrvatski

Posjeta: 0 *