Analysis of prenatal diagnostic results in fetuses with nasal bone abnormalities of 26 cases
LIU Cong-cong , QI Qing-wei, JIANG Yu-lin,et al
1.Department of Obstetrics & Gynecology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100730, China;2. Department of Ultrasound, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100730, China; 3. Be Creative Lab (Beijing) Co. Ltd. Beijing 101111, China
Abstract: 【Abstract】 Objective To investigate the prenatal diagnosis, genetic counseling and clinical management pathway of fetal nasal bone absence or hypoplasia. Methods This retrospective study included 26 cases with fetal nasal bone absence or hypoplasia detected by prenatal ultrasonography from December 1st, 2016 to December, 1st 2017 in Department of Obstetrics & Gynecology, Peking Union Medical College Hospital. Cases combined with or without other ultrasonographic abnormalities were divided into non-isolated and isolated nasal bone absence or hypoplasia group respectively. Karyotyping and chromosomal microarray analysis (CMA) were performed in all cases. The clinical profiles, prenatal genetic diagnostic results and pregnancy outcomes of two groups were analyzed retrospectively. Results Among 18 cases in isolated nasal bone absence or hypoplasia group, 4 patients had variants of unknown significance (VUS) results, all were likely benign. The remaining 14 cases had normal genetic results. All these 18 cases continued the pregnancies and all the infants were normal in follow-up. Among 8 cases in nonisolated nasal bone absence or hypoplasia group, one fetus was diagnosed as trisomy 21, two fetuses were diagnosed as trisomy 18. Two fetuses were identified with pathological copy number variant (CNV). No abnormal genetic diagnoses were found after karyotyping and CMA in the remaining 3 cases, further whole exome sequencings performed in 1 case revealed a compound heterogenous mutation in RPGRIP1L gene. Seven cases opted to terminate pregnancies after genetic counseling. In addition, one fetus with multiple structural abnormalities in a twin, the malformed newborn died after delivery. Conclusions Prenatal genetic diagnostic testing, including CMA, should be performed in any case with nasal bone abnormalities,
whether it is combined with other ultrasonographic abnormalities or not. Further WES should be applied if necessary.
2020, Vol. 8 
