Sonographic features of Joubert syndrome in first or second trimester: report of two fetuses
10.3760/cma.j.cn113903-20210323-00251
- VernacularTitle:两例Joubert综合征胎儿孕早中期超声表型分析
- Author:
Cuixia GUO
1
;
Lijuan SUN
;
Yan LIU
;
Song YUE
;
Ling YAO
;
Qingqing WU
Author Information
1. 首都医科大学附属北京妇产医院超声科 100026
- Keywords:
Abnormalities, multiple;
Cerebellum;
Eye abnormalities;
Retina;
Kidney diseases, cystic;
Ultrasonography, prenatal;
Pregnancy trimester, first;
Pregnancy tri
- From:
Chinese Journal of Perinatal Medicine
2021;24(11):851-854
- CountryChina
- Language:Chinese
-
Abstract:
We report two cases of Joubert syndrome initially tentatively diagnosed by prenatal ultrasound in the first or second trimester which were thereafter confirmed by whole exome sequencing (WES). Case 1 was one of the twins who presented with increased intracranial transparency (IT) and thinner brainstem at 12 +1 gestational weeks. Ultrasound at 18 +2 weeks found multiple intracranial malformations, "molar tooth sign (MTS)" at the midbrain-hindbrain junction level in the cerebral cross section, and bilateral ventriculomegaly. Enlarged and echogenic kidneys and oligohydramnios were also detected. In case 2, ultrasound image at 17 +5 weeks of gestation indicated multiple intra-and extra cranial and extracranial malformations, MTS in the midbrain-hindbrain junction plane, bilateral ventriculomegaly, unclear cavum septum pellucidum. Extracranial anomalies were bilateral multicystic enlarged kidneys, invisible bladder, and oligohydramnios. Both fetuses underwent amniocentesis, which showed normal karyotype and no copy number variation was detected. However, variation of the TMEM67 gene (c.312+5G>A at introns 2 and c.1175C>G at exon12) was detected in both fetuses by WES, supporting the diagnosis of Joubert syndrome. Selective reduction and termination of pregnancy were performed on case 1 and case 2 at 18 +5 and 19 weeks of gestation, respectively.
