Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development – a retrospective analysis of 11-year data
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Ivanka Bekavac Vlatkovic
, Tomislav Hafner
, Berivoj Miskovic , Ana Vicic , Borna Poljak und Feodora Stipoljev
Abstract
Objective: Analysis of prenatally diagnosed sex chromosome aneuploidies and disorders of sex development (DSDs).
Methods: This study includes a retrospective data analysis of 46 prenatally detected sex chromosome aneuploidies and one case of 46,XY DSD diagnosed during an 11-year period (2002–2012) at our department.
Results: Of the 46 sex chromosome aneuploidies, 29 cases (63.0%) were in the group of a selected population of women according to abnormal first-/second-trimester ultrasound and 17 (37.0%) cases in an unselected population of women who underwent fetal karyotyping because of advanced maternal age. The most common aneuploidy was Turner syndrome in full and mosaic form (50%). Complete androgen insensitivity syndrome was diagnosed in the case of 46,XY DSD.
Conclusions: Sex chromosome aneuploidies must be taken into consideration if, in the first or second trimester, abnormalities are revealed on ultrasound, mainly Turner syndrome in full or mosaic form and 47,XYY.
References
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The authors stated that there are no conflicts of interest regarding the publication of this article.
©2014 by Walter de Gruyter Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Review articles
- The relationship between gestational weight gain and fetal growth: time to take stock?
- Risk factors for pregnancy-associated venous thromboembolism: a review
- Academy’s Corner
- Africa is only 14 km away from my country
- Primary prevention of preterm birth
- Original articles – Obstetrics
- Mother knows best? Comparing primiparous parturients’ expectations and predictions with actual birth outcomes
- Silent chorioamnionitis and associated pregnancy outcomes: a review of clinical data gathered over a 16-year period
- Clinical factors associated with failed trials of labor in late preterm and term twin pregnancies
- Relation of placental diagnosis in stillbirth to fetal maceration and gestational age at delivery
- Evaluation of a novel placental alpha microglobulin-1 (PAMG-1) test to predict spontaneous preterm delivery
- The relationship of praise/criticism to learning during obstetrical simulation: a randomized clinical trial
- Sickle cell disease and pregnancy outcomes: population-based study on 8.8 million births
- Differences between external and internal fetal heart rate monitoring during the second stage of labor: a prospective observational study
- Perinatal management of preterm premature ruptured membranes affects neonatal prognosis
- Impact of the nitric oxide-donor pentaerythrityl-tetranitrate on perinatal outcome in risk pregnancies: a prospective, randomized, double-blinded trial
- Umbilical vein volume flow in monochorionic twin pairs at 11–14 weeks
- Gestational weight gain according to number of fetuses in Japanese women
- Original article – Fetus
- Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development – a retrospective analysis of 11-year data
- Short communication
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- Congress Calendar
- Congress Calendar