Referral scan for congenital anomalies: time to agree on indications

Robertis, V. De; Calì, Giuseppe; Corbella, Paola; Formigoni, Chiara; Iuculano, Ambra; Nonino, Francesco; Pasquini, Lucia; Prefumo, Federico; Sciarrone, Andrea; Stampalija, Tamara; Taddeï, F.; Volpe, N.; Volpe, P.; Frusca, T.

doi:10.1002/uog.24950

Cited by 4 publications

(2 citation statements)

References 32 publications

(84 reference statements)

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“…Major CHD is present in 36.5% of fetuses with NT values between the 95th–99th percentile and 21.3% of fetuses with an NT ≥ 99 th percentile 11–14,26,27 . Despite this, fetal echocardiography is recommended by some guidelines for NT values > 3.0 mm or >99 th percentile 1,28–30 . Our study showed that fetuses with an NT between the 95th–99th percentile have a 10‐fold increased risk of fetal malformation, which may constitute an indication for referral for a detailed anatomy evaluation, as found by the study by Bardi et al.…”

Section: Discussionsupporting

confidence: 58%

The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentiles

Fantasia,

Catagini,

Zamagni

et al. 2023

Prenatal Diagnosis

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Objectives To evaluate the clinical significance of nuchal translucency (NT) between the 95th–99th percentile in terms of typical and atypical chromosomal abnormalities (ACAs), associated fetal congenital defects and postnatal outcome. Methods A retrospective cohort study of fetuses with NT between the 95th–99th percentile. Data regarding the rate of associated fetal defects, genetic abnormalities and postnatal outcome were collected. Results A total of 306 cases of fetuses with an NT between the 95th–99th percentiles were included. The overall rate of genetic abnormalities was 12.1% (37/306). Chromosomal abnormalities were found in 10.1% (31/306) of cases and 2% were ACA (6/306). Within this group, two were pathogenic Copy Number Variants (CNVs) and four were single gene disorders. The overall rate of fetal congenital defects was 13.7% (42/306). All ACAs were found in fetuses with congenital defects. Postnatally, a new diagnosis of a single gene disorder was made in 0.85% of cases (2/236). Conclusions The presence of an NT between the 95th–99th percentiles carries a 10‐fold increased risk of fetal defects, representing an indication for referral for a detailed fetal anatomy evaluation. The risk of ACA is mainly related to the presence of fetal defects, irrespective of the combined test risk.

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Section: Discussionsupporting

confidence: 58%

The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentiles

Fantasia,

Catagini,

Zamagni

et al. 2023

Prenatal Diagnosis

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“…Whenever possible, patients suspected of having a congenital anomaly should be referred to advanced centers for evaluation by competent personnel and de nitive diagnosis (19). This evaluation includes a detailed examination of the CNS, commonly referred to as "fetal neurosonography" (20).…”

Section: Resultsmentioning

confidence: 99%

Reference charts for fetal corpus callosum length in the early second trimester: a prospective cross-sectional study

Bozbay,

Taşpınar,

Pekin

2024

Preprint

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Objective: This study aimed to establish normal reference ranges for fetal corpus callosum (CC) measured by prenatal ultrasonography (USG) between 16-25 weeks of gestation in healthy fetuses. Material and Method: A total of 809 fetuses in the second trimester were evaluated by transabdominal USG. All measurements were obtained by a single clinician. Results: Based on the correlation analysis, a significant positive correlation was found between gestational week and CC (r=0.907; p<0.001). Conclusion: We anticipate that the reference intervals obtained from healthy fetuses will help clinicians who are interested in neurosonography to detect CC abnormalities at an early stage.

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Indications for fetal echocardiography: Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG) guidelines using GRADE methodology

Robertis

2023

Ultrasound in Obstet & Gyne

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Referral scan for congenital anomalies: time to agree on indications

Abstract: Members of the SIEOG Working Group on the Obstetric Referral Scan are listed at end of manuscript.

Cited by 4 publications

References 32 publications

The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentiles

The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentiles

Reference charts for fetal corpus callosum length in the early second trimester: a prospective cross-sectional study

Indications for fetal echocardiography: Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG) guidelines using GRADE methodology

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