Are First Trimester Nuchal Septations Independent Risk Factors for Chromosomal Anomalies?

Mack, L.M.; Lee, Wesley; Mastrobattista, Joan M.; Belfort, Michael A.; Veyver, Ignatia B. Van den; Shamshirsaz, Alireza A.; Ruano, Rodrigo; Sanz‐Cortes, M.; Espinoza, Andres F.; Diouf, Arame Thiam; Espinoza, Jimmy

doi:10.7863/ultra.16.01066

Cited by 16 publications

(19 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The authors refrained from using the term cystic hygroma to describe nuchal edema as frequently with the high resolution of the ultrasound probes fine septations are seen in cases with increased nuchal translucency. Additionally, the presence of fine septations as an independent risk factor for chromosomal anomalies is not well established 7 …”

Section: Discussionmentioning

confidence: 99%

“… Nuchal edema (Figure 1B) ‐ increased edema in the region of fetal neck >2.2 mm (95th percentile for nuchal translucency measurement at 10 weeks of gestation 7 ). Generalized edema (Figure 1C) ‐ generalized subcutaneous edema (not confined to the nuchal region and measured in its widest diameter) or fetal hydrops (subcutaneous edema with at least one of pleural effusion, pericardial effusion or ascites). …”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Outcomes following the detection of fetal edema in early pregnancy prior to non‐invasive prenatal testing

et al. 2020

View full text Add to dashboard Cite

Objective To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non‐invasive prenatal testing (NIPT). Methods A retrospective study of women undergoing pre‐NIPT ultrasound with fetal crown‐rump length (CRL) of 28 to 44 mm was conducted at a tertiary obstetric ultrasound clinic in Melbourne, Australia. Cases of reported fetal edema were included, and subclassified as isolated nuchal edema (>2.2 mm) or generalized edema/hydrops by two operators blinded to outcomes. Results We identified 104 cases of fetal edema. Nuchal edema and generalized edema were present in 40 (38.5%) and 64 (61.5%) cases, respectively. Relevant chromosomal anomalies were identified in 19.2% (20/104), occurring in 10.0% (4/40) of the nuchal edema and 25.0% (16/64) of the generalized edema/hydrops cases. Structural anomalies with normal karyotype occurred in four (3.8%) additional cases. Miscarriage occurred in four cases (3.8%) and termination of pregnancy in 18 cases (17.3%). Among cases that reached the 11 to 13+6 weeks ultrasound, the edema resolved in 81.9% and these cases had less adverse outcomes than those with NT≥3.5 mm (10.9% vs 76.5%, P < .001). Conclusions Fetal edema in early pregnancy is associated with a high incidence of structural and/or chromosomal abnormalities; these rates increase with progressive severity.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Outcomes following the detection of fetal edema in early pregnancy prior to non‐invasive prenatal testing

et al. 2020

View full text Add to dashboard Cite

show abstract

“…It concerns a small sample size and it is a retrospective cohort study. Additionally no distinction was made between septated and non-septated cases and there are some papers showing that visualization of nuchal septations during fi rst-trimester genetic screening is a powerful risk factor for chromosomal anomalies, independent of increased NT [10]. Microarray analysis was not available for all cases and so submicroscopic pathogenic copy number variants may have been missed.…”

Section: Discussionmentioning

confidence: 99%

Characteristics and outcome of fetal nuchal translucency above 3.5 mm in the fi rst trimester

Lourenço¹,

Gouveia²,

Carriço³

et al. 2019

Open J Biol Sci

View full text Add to dashboard Cite

Objective: To describe the natural history of fetuses with a nuchal translucency (NT) above 3.5 mm when crown-rump length measures between 45 and 84 mm. Methods: We performed a retrospective cohort study of fetuses with fi rst trimester NT above 3.5 mm between January 2013 and March 2017. Results: A total of 75 cases with NT above 3.5 mm in the fi rst trimester were identifi ed. 3 cases were excluded (lost to follow-up), so that 72 cases were included. There were additional fi rst trimester markers of aneuploidy in 16 cases and 5 cases of major structural abnormalities diagnosed in the fi rst trimester ultrasound. 2 cases declined invasive testing. The karyotype was abnormal in 30 cases (43%), including 17 cases of trisomy 21. There were 25 terminations of pregnancy (34.7%), 11 fetal deaths (15.3%) and 36 livebirths (50%). The 36 live-born infants were followed. In this group 3 cases of trisomy 21, 1 case of unilateral hypoplasia of orbicularis oris, 1 Noonan-like syndrome, 1 case of 8p23.1 duplication (benign variant) and 1 case of lower limb lymphedema were observed. Conclusion: The prognosis of fetal NT above 3.5 mm in the fi rst trimester is poor when associated with karyotype abnormalities or structural abnormalities but is substantially better if neither of these conditions is observed.

show abstract

“…Fetal heart rate (FHR), presence of fetal edema, demised twin or fetal structural abnormality were also recorded. Fetal edema was considered present if the ultrasound specialist reported increased nuchal thickness of 2.2 mm or more (the 95th percentile at 10 weeks of gestational age) or generalized subcutaneous edema, with or without fluid present in one or more body cavities ( hydrops fetalis ) 13 . Those patients who had edema or increased nuchal thickness, with or without additional fetal abnormalities, were offered genetic counselling on the same day.…”

Section: Methodsmentioning

confidence: 99%

The importance of ultrasound preceding cell‐free DNA screening for fetal chromosomal abnormalities

et al. 2020

View full text Add to dashboard Cite

Objective: This study aims to determine the incidence of ultrasound findings that may change clinical management on the day of blood-sampling for cell-free DNA (cfDNA) screening. Methods: A retrospective study was conducted at a tertiary provider of obstetric and gynecological ultrasound in Melbourne, Australia. Individual patient files were reviewed and results were collated for maternal characteristics, pre-cfDNA ultrasound reports, results and test characteristics of both cfDNA and diagnostic testing, and genetic counselling notes. The primary outcome was a potential change in patient management due to findings detected on the pre-cfDNA ultrasound. Results: Of 6250 pre-cfDNA ultrasounds, 6207 were included in analysis. Of these, 598 (9.6%) pregnancies had a finding on pre-cfDNA ultrasound that had the potential to change management. The reasons for this potential change in management were detection of gestational age below 10 weeks (245, 3.9%), miscarriage (175, 2.8%), demised twin (43, 0.7%), fetal edema (115, 1.9%) and major structural abnormalities (20, 0.3%). These findings were more common in patients of advanced maternal age and in spontaneous conceptions. Conclusions: An ultrasound prior to cfDNA screening has the potential to change clinical management in almost one in 10 women. The proportion is higher in older age groups and lower in IVF-conceived pregnancies.

show abstract

Are First Trimester Nuchal Septations Independent Risk Factors for Chromosomal Anomalies?

Abstract: Visualization of nuchal septations during first-trimester genetic screening is a powerful risk factor for chromosomal anomalies, independent of increased NT.

Cited by 16 publications

References 26 publications

Outcomes following the detection of fetal edema in early pregnancy prior to non‐invasive prenatal testing

Outcomes following the detection of fetal edema in early pregnancy prior to non‐invasive prenatal testing

Characteristics and outcome of fetal nuchal translucency above 3.5 mm in the fi rst trimester

The importance of ultrasound preceding cell‐free DNA screening for fetal chromosomal abnormalities

Contact Info

Product

Resources

About