Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

Francesca Bardi, Eric Smith, Maja Kuilman, Rosalinde J. M. Snijders, Caterina Maddalena Bilardo

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. Materials and Methods: US scans performed between 11+0 and 13+6 weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Results: Of all scans, 38.6% were dating scans and 61.4% were part of first-trimester screening. Anomalies were diagnosed prenatally in 200 (1.8%) fetuses; 81 (0.7%) were chromosomal and 119 (1.1%) were structural. Of all prenatally detected anomalies, 27% (n = 32) were detected at first-trimester scan, with a false-positive rate of 0.04%. All cases of anencephaly (n = 4), encephalocele (n = 2), exomphalos (n = 9), megacystis (n = 4), and limb reduction (n = 1) were diagnosed. First-trimester detection of gastroschisis and congenital heart defects was 67 and 19%, respectively. Conclusion: In a primary care setting, global fetal anatomical assessment at first-trimester scan without following a standardized protocol detects about 30% of all structural anomalies and most of the severe anomalies, with an extremely low false-positive rate. We hypothesize that additional training and use of a systematic protocol would improve early detection of structural anomalies.
Original languageEnglish
Pages (from-to)12-19
Number of pages8
JournalFetal Diagnosis and Therapy
Volume46
Issue number1
DOIs
Publication statusPublished - 1 Jul 2019

Cite this

Bardi, Francesca ; Smith, Eric ; Kuilman, Maja ; Snijders, Rosalinde J. M. ; Bilardo, Caterina Maddalena. / Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands. In: Fetal Diagnosis and Therapy. 2019 ; Vol. 46, No. 1. pp. 12-19.
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title = "Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands",
abstract = "Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. Materials and Methods: US scans performed between 11+0 and 13+6 weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Results: Of all scans, 38.6{\%} were dating scans and 61.4{\%} were part of first-trimester screening. Anomalies were diagnosed prenatally in 200 (1.8{\%}) fetuses; 81 (0.7{\%}) were chromosomal and 119 (1.1{\%}) were structural. Of all prenatally detected anomalies, 27{\%} (n = 32) were detected at first-trimester scan, with a false-positive rate of 0.04{\%}. All cases of anencephaly (n = 4), encephalocele (n = 2), exomphalos (n = 9), megacystis (n = 4), and limb reduction (n = 1) were diagnosed. First-trimester detection of gastroschisis and congenital heart defects was 67 and 19{\%}, respectively. Conclusion: In a primary care setting, global fetal anatomical assessment at first-trimester scan without following a standardized protocol detects about 30{\%} of all structural anomalies and most of the severe anomalies, with an extremely low false-positive rate. We hypothesize that additional training and use of a systematic protocol would improve early detection of structural anomalies.",
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Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands. / Bardi, Francesca; Smith, Eric; Kuilman, Maja; Snijders, Rosalinde J. M.; Bilardo, Caterina Maddalena.

In: Fetal Diagnosis and Therapy, Vol. 46, No. 1, 01.07.2019, p. 12-19.

Research output: Contribution to journalArticleAcademicpeer-review

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T1 - Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

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AU - Smith, Eric

AU - Kuilman, Maja

AU - Snijders, Rosalinde J. M.

AU - Bilardo, Caterina Maddalena

PY - 2019/7/1

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N2 - Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. Materials and Methods: US scans performed between 11+0 and 13+6 weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Results: Of all scans, 38.6% were dating scans and 61.4% were part of first-trimester screening. Anomalies were diagnosed prenatally in 200 (1.8%) fetuses; 81 (0.7%) were chromosomal and 119 (1.1%) were structural. Of all prenatally detected anomalies, 27% (n = 32) were detected at first-trimester scan, with a false-positive rate of 0.04%. All cases of anencephaly (n = 4), encephalocele (n = 2), exomphalos (n = 9), megacystis (n = 4), and limb reduction (n = 1) were diagnosed. First-trimester detection of gastroschisis and congenital heart defects was 67 and 19%, respectively. Conclusion: In a primary care setting, global fetal anatomical assessment at first-trimester scan without following a standardized protocol detects about 30% of all structural anomalies and most of the severe anomalies, with an extremely low false-positive rate. We hypothesize that additional training and use of a systematic protocol would improve early detection of structural anomalies.

AB - Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. Materials and Methods: US scans performed between 11+0 and 13+6 weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Results: Of all scans, 38.6% were dating scans and 61.4% were part of first-trimester screening. Anomalies were diagnosed prenatally in 200 (1.8%) fetuses; 81 (0.7%) were chromosomal and 119 (1.1%) were structural. Of all prenatally detected anomalies, 27% (n = 32) were detected at first-trimester scan, with a false-positive rate of 0.04%. All cases of anencephaly (n = 4), encephalocele (n = 2), exomphalos (n = 9), megacystis (n = 4), and limb reduction (n = 1) were diagnosed. First-trimester detection of gastroschisis and congenital heart defects was 67 and 19%, respectively. Conclusion: In a primary care setting, global fetal anatomical assessment at first-trimester scan without following a standardized protocol detects about 30% of all structural anomalies and most of the severe anomalies, with an extremely low false-positive rate. We hypothesize that additional training and use of a systematic protocol would improve early detection of structural anomalies.

KW - Combined test

KW - First-trimester screening

KW - First-trimester ultrasound

KW - Screening for congenital anomalies

KW - Structural anomalies

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