First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember
Objective: We present two prenatal cases of first-trimester cystic hygroma who are later found to suffer from rare genetic syndromes. Case report: Both of the two pregnant women were showed to have fetal cystic hygroma on ultrasound at the first trimester. Fetal microarray result was normal. Follow-...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-11-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455920302400 |
| _version_ | 1818255678211358720 |
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| author | Min Pan Ying-Na Liu Li-Li Xu Dong-Zhi Li |
| author_facet | Min Pan Ying-Na Liu Li-Li Xu Dong-Zhi Li |
| author_sort | Min Pan |
| collection | DOAJ |
| description | Objective: We present two prenatal cases of first-trimester cystic hygroma who are later found to suffer from rare genetic syndromes. Case report: Both of the two pregnant women were showed to have fetal cystic hygroma on ultrasound at the first trimester. Fetal microarray result was normal. Follow-up sonographic examinations showed no structural anomalies. The two pregnancies continued uncomplicatedly to term. However, the two infants developed early neurodevelopmental syndrome within two years of age. Exome sequencing confirmed that one child had Mental retardation, autosomal dominant 23 (MRD23) with a c.646delC (p.Q216Sfs∗35) variant in SETD5 gene, and the other child had Smith-Magenis syndrome with a c.3103dupC (Q1035Pfs∗31) variant in RAI1 gene. Conclusion: Clinicians have to be vigilant when counseling the patient whose fetus has a first-trimester cystic hygroma even with a normal array result and normal sonographic scans. Although they are rare, monogenetic syndromes are possible outcomes. |
| first_indexed | 2024-12-12T17:15:40Z |
| format | Article |
| id | doaj.art-eff790de5d50406b9ef6f3b0ce753522 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-12T17:15:40Z |
| publishDate | 2020-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-eff790de5d50406b9ef6f3b0ce7535222022-12-22T00:17:48ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592020-11-01596960962First-trimester cystic hygroma and neurodevelopmental disorders: The association to rememberMin Pan0Ying-Na Liu1Li-Li Xu2Dong-Zhi Li3Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, ChinaDepartment of Obstetrics and Gynecology, Shenzhen Hospital of Southern Medical University, Shenzhen, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China; Corresponding author. Guangzhou Women and Children's Medical Center, Jinsui Road 9, Guangzhou, Guangdong 510623, China.Objective: We present two prenatal cases of first-trimester cystic hygroma who are later found to suffer from rare genetic syndromes. Case report: Both of the two pregnant women were showed to have fetal cystic hygroma on ultrasound at the first trimester. Fetal microarray result was normal. Follow-up sonographic examinations showed no structural anomalies. The two pregnancies continued uncomplicatedly to term. However, the two infants developed early neurodevelopmental syndrome within two years of age. Exome sequencing confirmed that one child had Mental retardation, autosomal dominant 23 (MRD23) with a c.646delC (p.Q216Sfs∗35) variant in SETD5 gene, and the other child had Smith-Magenis syndrome with a c.3103dupC (Q1035Pfs∗31) variant in RAI1 gene. Conclusion: Clinicians have to be vigilant when counseling the patient whose fetus has a first-trimester cystic hygroma even with a normal array result and normal sonographic scans. Although they are rare, monogenetic syndromes are possible outcomes.http://www.sciencedirect.com/science/article/pii/S1028455920302400Fetal cystic hygromaPrenatal diagnosisGenetic syndromeNeurodevelopmental disorders |
| spellingShingle | Min Pan Ying-Na Liu Li-Li Xu Dong-Zhi Li First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember Taiwanese Journal of Obstetrics & Gynecology Fetal cystic hygroma Prenatal diagnosis Genetic syndrome Neurodevelopmental disorders |
| title | First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember |
| title_full | First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember |
| title_fullStr | First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember |
| title_full_unstemmed | First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember |
| title_short | First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember |
| title_sort | first trimester cystic hygroma and neurodevelopmental disorders the association to remember |
| topic | Fetal cystic hygroma Prenatal diagnosis Genetic syndrome Neurodevelopmental disorders |
| url | http://www.sciencedirect.com/science/article/pii/S1028455920302400 |
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