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First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.
Appl Clin Genet 2019; 12:141-150AC

Abstract

Introduction

Zika virus (ZIKV) is a little-known emerging mosquito-borne flavivirus. The perinatal ZIKV infection was associated with birth defects during the Brazilian outbreak. There was an increased risk of intrauterine transmission of the virus and a marked increase in the number of newborns with microcephaly. We report on two such cases.

Case Report

The first case was a 25-year-old pregnant woman from Colombia who became acutely ill with general symptoms during the tenth week of gestation, followed by severe generalized itching and maculopapular rash for approximately five days. This case was reported during the epidemic stage of the ZIKV infection in Colombia. At 23.3 gestational weeks, ultrasonography showed abnormal intracranial anatomy with cerebral ventriculomegaly, microcephaly, and parenchymal calcification. Given the grave prognosis, the patient elected to terminate the pregnancy at 25 gestational weeks. The second case was a 24-year-old pregnant woman who became acutely ill during the 17th week of gestation, which corresponded with the ZIKV epidemic in Colombia. At 30.5 gestational weeks, ultrasonography showed isolated fetal cerebral ventriculomegaly. We detected ZIKV in the amniotic fluid; however, the virus was not detected in the urine or serum of the mother or fetus. Tests for dengue virus, chikungunya virus, Toxoplasma gondii, rubella virus, cytomegalovirus, herpes simplex virus, HIV, hepatitis B and C, and parvovirus B19 were all negative. Different samples obtained from the placenta, amniotic liquid, and cerebrospinal fluid were positive for viral isolation of ZIKV RNA using TaqMan RT-PCR. Additionally, the parents and fetuses were tested for genetic diseases using whole exome sequencing and array CGH to rule out possible genetic syndromes that produce these congenital abnormalities.

Conclusion

These were the first cases in Colombia to show early vertical transmission of ZIKV and the first cases associated with congenital cerebral abnormalities in which molecular, infectious, and genomic tests were performed.

Authors+Show Affiliations

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Colombia. MSc Biomaterials and Tissues Engineering and Genetics of Human Diseases, University College London, London, UK.Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Colombia.Infectology Department, Fundación Valle del Lili, Cali, Colombia.Neonatal Department, Fundacion Valle del Lili, Cali, Colombia.Neonatal Department, Fundacion Valle del Lili, Cali, Colombia.Pathology Department, Fundacion Valle del Lili, Cali, Colombia.Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain. CIBER de Enfermedades Raras (CIBERER), Madrid, ISCIII, Spain.Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain. CIBER de Enfermedades Raras (CIBERER), Madrid, ISCIII, Spain.Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Colombia. Genetics Department, Fundacion Valle del Lili, Cali, Colombia.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31440073

Citation

Candelo, Estephania, et al. "First Report Case With Negative Genetic Study (array CGH, Exome Sequencing) in Patients With Vertical Transmission of Zika Virus Infection and Associated Brain Abnormalities." The Application of Clinical Genetics, vol. 12, 2019, pp. 141-150.
Candelo E, Caicedo G, Rosso F, et al. First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities. Appl Clin Genet. 2019;12:141-150.
Candelo, E., Caicedo, G., Rosso, F., Ballesteros, A., Orrego, J., Escobar, L., ... Pachajoa, H. (2019). First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities. The Application of Clinical Genetics, 12, pp. 141-150. doi:10.2147/TACG.S190661.
Candelo E, et al. First Report Case With Negative Genetic Study (array CGH, Exome Sequencing) in Patients With Vertical Transmission of Zika Virus Infection and Associated Brain Abnormalities. Appl Clin Genet. 2019;12:141-150. PubMed PMID: 31440073.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities. AU - Candelo,Estephania, AU - Caicedo,Gabriela, AU - Rosso,Fernando, AU - Ballesteros,Adriana, AU - Orrego,Jaime, AU - Escobar,Luis, AU - Lapunzina,Pablo, AU - Nevado,Julían, AU - Pachajoa,Harry, Y1 - 2019/07/30/ PY - 2018/10/12/received PY - 2019/04/13/accepted PY - 2019/8/24/entrez KW - Colombia KW - Zika virus infection KW - brain abnormalities KW - microcephaly KW - vertical transmission KW - whole exome sequencing SP - 141 EP - 150 JF - The application of clinical genetics JO - Appl Clin Genet VL - 12 N2 - Introduction: Zika virus (ZIKV) is a little-known emerging mosquito-borne flavivirus. The perinatal ZIKV infection was associated with birth defects during the Brazilian outbreak. There was an increased risk of intrauterine transmission of the virus and a marked increase in the number of newborns with microcephaly. We report on two such cases. Case Report: The first case was a 25-year-old pregnant woman from Colombia who became acutely ill with general symptoms during the tenth week of gestation, followed by severe generalized itching and maculopapular rash for approximately five days. This case was reported during the epidemic stage of the ZIKV infection in Colombia. At 23.3 gestational weeks, ultrasonography showed abnormal intracranial anatomy with cerebral ventriculomegaly, microcephaly, and parenchymal calcification. Given the grave prognosis, the patient elected to terminate the pregnancy at 25 gestational weeks. The second case was a 24-year-old pregnant woman who became acutely ill during the 17th week of gestation, which corresponded with the ZIKV epidemic in Colombia. At 30.5 gestational weeks, ultrasonography showed isolated fetal cerebral ventriculomegaly. We detected ZIKV in the amniotic fluid; however, the virus was not detected in the urine or serum of the mother or fetus. Tests for dengue virus, chikungunya virus, Toxoplasma gondii, rubella virus, cytomegalovirus, herpes simplex virus, HIV, hepatitis B and C, and parvovirus B19 were all negative. Different samples obtained from the placenta, amniotic liquid, and cerebrospinal fluid were positive for viral isolation of ZIKV RNA using TaqMan RT-PCR. Additionally, the parents and fetuses were tested for genetic diseases using whole exome sequencing and array CGH to rule out possible genetic syndromes that produce these congenital abnormalities. Conclusion: These were the first cases in Colombia to show early vertical transmission of ZIKV and the first cases associated with congenital cerebral abnormalities in which molecular, infectious, and genomic tests were performed. SN - 1178-704X UR - https://www.unboundmedicine.com/medline/citation/31440073/First_report_case_with_negative_genetic_study_(array_CGH,_exome_sequencing)_in_patients_with_vertical_transmission_of_Zika_virus_infection_and_associated_brain_abnormalities DB - PRIME DP - Unbound Medicine ER -