Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling
The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy. The extensive use of NIPT, as a screening method, has highlighted the limits of the technique...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.982508/full |
| _version_ | 1811234510144012288 |
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| author | Agnese Feresin Tamara Stampalija Tamara Stampalija Stefania Cappellani Rossana Bussani Rossana Bussani Flavio Faletra Flora Murru Sheila Ulivi Sarah Suergiu Pasquale Savarese Antonio Pedicini Margherita Policicchio Raffaella Ruggiero Barbara Bosio Giovanni Savarese Carmela Ardisia |
| author_facet | Agnese Feresin Tamara Stampalija Tamara Stampalija Stefania Cappellani Rossana Bussani Rossana Bussani Flavio Faletra Flora Murru Sheila Ulivi Sarah Suergiu Pasquale Savarese Antonio Pedicini Margherita Policicchio Raffaella Ruggiero Barbara Bosio Giovanni Savarese Carmela Ardisia |
| author_sort | Agnese Feresin |
| collection | DOAJ |
| description | The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy. The extensive use of NIPT, as a screening method, has highlighted the limits of the technique, including false positive and negative results. Feto-placental mosaicism is a challenging biological issue and is the most frequent cause of false positive and negative results in NIPT screening, and of discrepancy between NIPT and invasive test results. We are reporting on two cases of feto-placental mosaicism of trisomy 21, both with a low-risk NIPT result, identified by ultrasound signs and a subsequent amniocentesis consistent with a trisomy 21. In both cases, after the pregnancy termination, cytogenetic and/or cytogenomic analyses were performed on the placenta and fetal tissues, showing in the first case a mosaicism of trisomy 21 in both the placenta and the fetus, but a mosaicism in the placenta and a complete trisomy 21 in the fetus in the second case. These cases emphasize the need for accurate and complete pre-test NIPT counselling, as well as to identify situations at risk for a possible false negative NIPT result, which may underestimate a potential pathological condition, such as feto-placental mosaicism or fetal trisomy. Post-mortem molecular autopsy may discriminate between placental, fetal and feto-placental mosaicism, and between complete or mosaic fetal chromosomal anomalies. A multidisciplinary approach in counselling, as well as in the interpretation of biological events, is essential for the clarification of complex cases, such as feto-placental mosaicisms. |
| first_indexed | 2024-04-12T11:38:29Z |
| format | Article |
| id | doaj.art-48aeebc50d96425897a92670d9004727 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-12T11:38:29Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-48aeebc50d96425897a92670d90047272022-12-22T03:34:46ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-10-011310.3389/fgene.2022.982508982508Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counsellingAgnese Feresin0Tamara Stampalija1Tamara Stampalija2Stefania Cappellani3Rossana Bussani4Rossana Bussani5Flavio Faletra6Flora Murru7Sheila Ulivi8Sarah Suergiu9Pasquale Savarese10Antonio Pedicini11Margherita Policicchio12Raffaella Ruggiero13Barbara Bosio14Giovanni Savarese15Carmela Ardisia16Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, ItalyDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, ItalyInstitute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalyInstitute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalyDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, ItalyUnit of Pathologic Anatomy and Histology, Asugi, Trieste, ItalyInstitute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalyInstitute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalyInstitute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalyInstitute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalyAmes, Centro Polidiagnostico Strumentale, Naples, ItalyAORN, San Giuseppe Moscati, Avellino, ItalyAORN, San Giuseppe Moscati, Avellino, ItalyAmes, Centro Polidiagnostico Strumentale, Naples, ItalyDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, ItalyAmes, Centro Polidiagnostico Strumentale, Naples, ItalyInstitute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalyThe sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy. The extensive use of NIPT, as a screening method, has highlighted the limits of the technique, including false positive and negative results. Feto-placental mosaicism is a challenging biological issue and is the most frequent cause of false positive and negative results in NIPT screening, and of discrepancy between NIPT and invasive test results. We are reporting on two cases of feto-placental mosaicism of trisomy 21, both with a low-risk NIPT result, identified by ultrasound signs and a subsequent amniocentesis consistent with a trisomy 21. In both cases, after the pregnancy termination, cytogenetic and/or cytogenomic analyses were performed on the placenta and fetal tissues, showing in the first case a mosaicism of trisomy 21 in both the placenta and the fetus, but a mosaicism in the placenta and a complete trisomy 21 in the fetus in the second case. These cases emphasize the need for accurate and complete pre-test NIPT counselling, as well as to identify situations at risk for a possible false negative NIPT result, which may underestimate a potential pathological condition, such as feto-placental mosaicism or fetal trisomy. Post-mortem molecular autopsy may discriminate between placental, fetal and feto-placental mosaicism, and between complete or mosaic fetal chromosomal anomalies. A multidisciplinary approach in counselling, as well as in the interpretation of biological events, is essential for the clarification of complex cases, such as feto-placental mosaicisms.https://www.frontiersin.org/articles/10.3389/fgene.2022.982508/fullNIPTfalse negative cffDNAfeto-placental mosaicismtrisomy 21SNP arrayautopsy |
| spellingShingle | Agnese Feresin Tamara Stampalija Tamara Stampalija Stefania Cappellani Rossana Bussani Rossana Bussani Flavio Faletra Flora Murru Sheila Ulivi Sarah Suergiu Pasquale Savarese Antonio Pedicini Margherita Policicchio Raffaella Ruggiero Barbara Bosio Giovanni Savarese Carmela Ardisia Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling Frontiers in Genetics NIPT false negative cffDNA feto-placental mosaicism trisomy 21 SNP array autopsy |
| title | Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling |
| title_full | Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling |
| title_fullStr | Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling |
| title_full_unstemmed | Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling |
| title_short | Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling |
| title_sort | case report two cases of apparent discordance between non invasive prenatal testing nipt and amniocentesis resulting in feto placental mosaicism of trisomy 21 issues in diagnosis investigation and counselling |
| topic | NIPT false negative cffDNA feto-placental mosaicism trisomy 21 SNP array autopsy |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.982508/full |
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