A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series
Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate assessment through genetic counseling and testing, incl...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-12-01
|
| Series: | Diagnostics |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-4418/13/1/48 |
| _version_ | 1797626060548866048 |
|---|---|
| author | Gioia Mastromoro Daniele Guadagnolo Nader Khaleghi Hashemian Laura Bernardini Antonella Giancotti Gerardo Piacentini Alessandro De Luca Antonio Pizzuti |
| author_facet | Gioia Mastromoro Daniele Guadagnolo Nader Khaleghi Hashemian Laura Bernardini Antonella Giancotti Gerardo Piacentini Alessandro De Luca Antonio Pizzuti |
| author_sort | Gioia Mastromoro |
| collection | DOAJ |
| description | Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate assessment through genetic counseling and testing, including karyotype, chromosomal microarray analysis (CMA) and multigene RASopathy panel. We performed a systematic review of the literature and meta-analysis, to calculate diagnostic yields of genetic testing in fetuses with iNT and cystic hygroma. We compared the results with a cohort of 96 fetuses with these isolated findings. Fetuses with isolated NT ≥ 2.5 mm showed karyotype anomalies in 22.76% of cases and CMA presented an incremental detection rate of 2.35%. Fetuses with isolated NT ≥ 3 mm presented aneuploidies in 14.36% of cases and CMA had an incremental detection rate of 3.89%. When the isolated NT measured at least 3.5 mm the diagnostic yield of karyotyping was 34.35%, the incremental CMA detection rate was 4.1%, the incremental diagnostic rate of the RASopathy panel was 1.44% and it was 2.44% for exome sequencing. Interestingly, CMA presents a considerable diagnostic yield in the group of fetuses with NT ≥ 3.5 mm. Similarly, exome sequencing appears to show promising results and could be considered after a negative CMA result. |
| first_indexed | 2024-03-11T10:05:15Z |
| format | Article |
| id | doaj.art-c64ca71febf946c8a8bcb74933338c65 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-11T10:05:15Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-c64ca71febf946c8a8bcb74933338c652023-11-16T15:08:08ZengMDPI AGDiagnostics2075-44182022-12-011314810.3390/diagnostics13010048A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case SeriesGioia Mastromoro0Daniele Guadagnolo1Nader Khaleghi Hashemian2Laura Bernardini3Antonella Giancotti4Gerardo Piacentini5Alessandro De Luca6Antonio Pizzuti7Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, 00185 Rome, ItalyCytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, 71013 Foggia, ItalyDepartment of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, 00161 Rome, ItalyDepartment of Neonatology and Fetal Cardiology, Fatebenefratelli Isola Tiberina–Gemelli Isola, 00186 Rome, ItalyMedical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, 00185 Rome, ItalyFetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate assessment through genetic counseling and testing, including karyotype, chromosomal microarray analysis (CMA) and multigene RASopathy panel. We performed a systematic review of the literature and meta-analysis, to calculate diagnostic yields of genetic testing in fetuses with iNT and cystic hygroma. We compared the results with a cohort of 96 fetuses with these isolated findings. Fetuses with isolated NT ≥ 2.5 mm showed karyotype anomalies in 22.76% of cases and CMA presented an incremental detection rate of 2.35%. Fetuses with isolated NT ≥ 3 mm presented aneuploidies in 14.36% of cases and CMA had an incremental detection rate of 3.89%. When the isolated NT measured at least 3.5 mm the diagnostic yield of karyotyping was 34.35%, the incremental CMA detection rate was 4.1%, the incremental diagnostic rate of the RASopathy panel was 1.44% and it was 2.44% for exome sequencing. Interestingly, CMA presents a considerable diagnostic yield in the group of fetuses with NT ≥ 3.5 mm. Similarly, exome sequencing appears to show promising results and could be considered after a negative CMA result.https://www.mdpi.com/2075-4418/13/1/48increased nuchal translucencycystic hygromamolecular testingprenatal diagnosisarrayRASopathies |
| spellingShingle | Gioia Mastromoro Daniele Guadagnolo Nader Khaleghi Hashemian Laura Bernardini Antonella Giancotti Gerardo Piacentini Alessandro De Luca Antonio Pizzuti A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series Diagnostics increased nuchal translucency cystic hygroma molecular testing prenatal diagnosis array RASopathies |
| title | A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series |
| title_full | A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series |
| title_fullStr | A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series |
| title_full_unstemmed | A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series |
| title_short | A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series |
| title_sort | pain in the neck lessons learnt from genetic testing in fetuses detected with nuchal fluid collections increased nuchal translucency versus cystic hygroma systematic review of the literature meta analysis and case series |
| topic | increased nuchal translucency cystic hygroma molecular testing prenatal diagnosis array RASopathies |
| url | https://www.mdpi.com/2075-4418/13/1/48 |
| work_keys_str_mv | AT gioiamastromoro apaininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT danieleguadagnolo apaininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT naderkhaleghihashemian apaininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT laurabernardini apaininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT antonellagiancotti apaininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT gerardopiacentini apaininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT alessandrodeluca apaininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT antoniopizzuti apaininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT gioiamastromoro paininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT danieleguadagnolo paininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT naderkhaleghihashemian paininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT laurabernardini paininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT antonellagiancotti paininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT gerardopiacentini paininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT alessandrodeluca paininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries AT antoniopizzuti paininthenecklessonslearntfromgenetictestinginfetusesdetectedwithnuchalfluidcollectionsincreasednuchaltranslucencyversuscystichygromasystematicreviewoftheliteraturemetaanalysisandcaseseries |