Reappraising the Value of Fetal First-Trimester Ultrasonography

Abstract. In the last few years, the introduction of cell-free DNA has rapidly altered prenatal screening regimens and is increasingly offered as the second- or, at times, even the first-tier screening test. Should an early anomaly scan also be part of an up-to-date screening policy? This paper reap...

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Main Authors: Huirong Tang, Mingming Zheng, Yang Pan
Format: Article
Language:English
Published: Wolters Kluwer Health 2023-04-01
Series:Maternal-Fetal Medicine
Online Access:http://journals.lww.com/10.1097/FM9.0000000000000138
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author Huirong Tang
Mingming Zheng
Yang Pan
author_facet Huirong Tang
Mingming Zheng
Yang Pan
author_sort Huirong Tang
collection DOAJ
description Abstract. In the last few years, the introduction of cell-free DNA has rapidly altered prenatal screening regimens and is increasingly offered as the second- or, at times, even the first-tier screening test. Should an early anomaly scan also be part of an up-to-date screening policy? This paper reappraises the value of fetal first-trimester ultrasonography. The primary aims of the first-trimester scan are to establish gestational age based on the measurement of fetal crown-rump length, to detect multiple pregnancy and chorionicity, and to measure fetal nuchal translucency thickness as part of a combined screening test for chromosomal abnormalities. With recent advancements in ultrasound technology, there is compelling evidence that a majority of fetuses with major structural abnormalities and almost half of them without chromosomal abnormalities can be detected in the first trimester. We focused on the first-trimester screening of fetal major defects, especially including fetal congenital heart disease and cleft lip and palate by ultrasound markers and views. Moreover, it is critical to highlight that after a detailed anomaly scan in the first trimester without major structural anomalies and positive genetic tests, the residual chance of favorable outcome in fetuses with isolated increased nuchal translucency is relatively high. The discussion on the role of cell-free DNA in prenatal screening is still ongoing. Even in the event of it becoming a first-line screening test for aneuploidies, the importance of a first-trimester fetal scan, including assessment of markers for other anomalies, remains undisputed.
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spelling doaj-art-e6e8a0c92a014a8c900bbd87d0b152392025-08-20T02:29:12ZengWolters Kluwer HealthMaternal-Fetal Medicine2096-69542641-58952023-04-015211511810.1097/FM9.0000000000000138202304000-00009Reappraising the Value of Fetal First-Trimester UltrasonographyHuirong Tang0Mingming Zheng1Yang Pan2Department of Obstetrics and Gynecology, The Affiliated Drum and Tower Hospital of Medical School of Nanjing University, Nanjing, Jiangsu 210000, China.Department of Obstetrics and Gynecology, The Affiliated Drum and Tower Hospital of Medical School of Nanjing University, Nanjing, Jiangsu 210000, China.Department of Obstetrics and Gynecology, The Affiliated Drum and Tower Hospital of Medical School of Nanjing University, Nanjing, Jiangsu 210000, China.Abstract. In the last few years, the introduction of cell-free DNA has rapidly altered prenatal screening regimens and is increasingly offered as the second- or, at times, even the first-tier screening test. Should an early anomaly scan also be part of an up-to-date screening policy? This paper reappraises the value of fetal first-trimester ultrasonography. The primary aims of the first-trimester scan are to establish gestational age based on the measurement of fetal crown-rump length, to detect multiple pregnancy and chorionicity, and to measure fetal nuchal translucency thickness as part of a combined screening test for chromosomal abnormalities. With recent advancements in ultrasound technology, there is compelling evidence that a majority of fetuses with major structural abnormalities and almost half of them without chromosomal abnormalities can be detected in the first trimester. We focused on the first-trimester screening of fetal major defects, especially including fetal congenital heart disease and cleft lip and palate by ultrasound markers and views. Moreover, it is critical to highlight that after a detailed anomaly scan in the first trimester without major structural anomalies and positive genetic tests, the residual chance of favorable outcome in fetuses with isolated increased nuchal translucency is relatively high. The discussion on the role of cell-free DNA in prenatal screening is still ongoing. Even in the event of it becoming a first-line screening test for aneuploidies, the importance of a first-trimester fetal scan, including assessment of markers for other anomalies, remains undisputed.http://journals.lww.com/10.1097/FM9.0000000000000138
spellingShingle Huirong Tang
Mingming Zheng
Yang Pan
Reappraising the Value of Fetal First-Trimester Ultrasonography
Maternal-Fetal Medicine
title Reappraising the Value of Fetal First-Trimester Ultrasonography
title_full Reappraising the Value of Fetal First-Trimester Ultrasonography
title_fullStr Reappraising the Value of Fetal First-Trimester Ultrasonography
title_full_unstemmed Reappraising the Value of Fetal First-Trimester Ultrasonography
title_short Reappraising the Value of Fetal First-Trimester Ultrasonography
title_sort reappraising the value of fetal first trimester ultrasonography
url http://journals.lww.com/10.1097/FM9.0000000000000138
work_keys_str_mv AT huirongtang reappraisingthevalueoffetalfirsttrimesterultrasonography
AT mingmingzheng reappraisingthevalueoffetalfirsttrimesterultrasonography
AT yangpan reappraisingthevalueoffetalfirsttrimesterultrasonography