First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

被引：1

作者：

Candelo, Estephania ^{[1
,2
]}

Caicedo, Gabriela ^{[1
]}

Rosso, Fernando ^{[3
]}

Ballesteros, Adriana ^{[4
]}

Orrego, Jaime ^{[4
]}

Escobar, Luis ^{[5
]}

Lapunzina, Pablo ^{[6
,7
]}

Nevado, Julian ^{[6
,7
]}

Pachajoa, Harry ^{[1
,8
]}

机构：

[1] Univ Icesi, Ctr Res Congenital Anomalies & Rare Dis CIACER, Dept Basic Med Sci, Cali, Colombia

[2] UCL, MSc Biomat & Tissues Engn & Genet Human Dis, London, England

[3] Fdn Valle Lili, Infectol Dept, Cali, Colombia

[4] Fdn Valle Lili, Neonatal Dept, Cali, Colombia

[5] Fdn Valle Lili, Pathol Dept, Cali, Colombia

[6] Hosp Univ La Paz, IdiPAZ, Inst Genet Med & Mol INGEMM, Madrid 28046, Spain

[7] ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain

[8] Fdn Valle Lili, Genet Dept, Cali, Colombia

来源：

APPLICATION OF CLINICAL GENETICS | 2019年 / 12卷

关键词：

Colombia; microcephaly; whole exome sequencing; Zika virus infection; vertical transmission; brain abnormalities; FETAL; OUTCOMES; BRAZIL;

D O I：

10.2147/TACG.S190661

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：141 / 150

页数：10