ISSN ONLINE: 2558-815X
ISSN PRINT: 1584-9244
ISSN-L: 1584-9244

Potential and pitfalls of first-trimester screening in detecting congenital hearts defects – a case report

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Introduction. Early fetal morphology screening by ultrasound markers can be challenging in early diagnosis of congenital heart disease. Technical limitations of fetal echocardiography in the first trimester must be borne in mind, and follow-up at mid-gestational echocardiography is prudent in some high risk patients, like fetuses with increased nuchal translucency.
Case presentation. The author presents a case report of HLSL in fetus with increased nuchal translucency, normal tricuspid and ductus venosus flow on early fetal morphology scan, with resolution of NT thickness and diagnosed hypoplastic left heart syndrome later in the second trimester.
Conclusions. The presented case highlights the need to improve screening for heart anomalies by extending the first trimester cardiac examination beyond the assessment of heart rate and position. Early prenatal detection by “soft markers” such as nuchal translucency thickness gives the possibility for planning early fetal echocardiography, genetic analysis, and adequate perinatal management.
Keywords: congenital heart disease, HLSL, nuchal translucency, ductus venosus, first trimester screening.

Full text sources https://doi.org/10.31688/ABMU.2024.59.2.13
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Address for correspondence:
Simona ANZHEL
Department of Obstetrics and Gynaecology, Medical University Varna, Varna, Bulgaria Address: Marin Drinov Street No. 55, Varna, P.C. 9002, Bulgaria
Email: anzhel.s.md@gmail.com

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Anzhel S. Potential and pitfalls of first-trimester screening in detecting congenital hearts defects – a case report. Arch Balk Med Union. 2024;59(2):243-247. https://doi.org/10.31688/ABMU.2024.59.2.13