Prenatal diagnosis of Jacobsen syndrome: analysis of four cases / 中华围产医学杂志

ABSTRACT

Objective To investiget the value of chromosome microarray analysis (CMA) in prenatal diagnosis of Jacobsen syndrome.Methods Among all gravidas who received karyotype analysis and CMA because of fetal congenital cardiac abnormalities in Shenzhen Maternity & Child Healthcare Hospital Affiliated to Southern Medical University from 2014 to 2016,four were diagnosed with fetal Jacobsen syndrome and enrolled in this study.Three amniotic fluid and one fetal tissue samples were collected.Peripheral blood specimens were collected from parents of these fetuses.Amniotic fluid samples and peripheral blood specimens were analyzed by karyotype analysis.CMA was performed to analyze amniotic fluid and fetal tissue samples.Multiplex ligation-dependent probe amplification was used to verify abnormal results revealed by CMA.Results (1) Prenatal ultrasound results:Fetus 1 was complicated with monocardian and transposition of the great arteries,fetus 2 with single umbilical artery and double superior vena cava,fetus 3 with severe constricted aorta and ventricular septal defect and fetus 4 with hypoplastic left heart syndrome and presented with a nuchal translucency of 0.27 cm.(2) Karyotyping results of the three amniotic fluid samples were 46,XY,del(11)(q23.3),46,XX,del(11)(q23.3) and 46,XX,del(11)(q23),respectively.(3) CMA results of the four fetuses were arr[GRCh37]11q24.1q25(121 872 273-134 934 196)× 1(13.062 Mb),arr[GRCh37]11q24.1q25(121 325 694-134 937 416)× 1 (13.611 Mb),arr[GRCh37]11q23.3q25(118 977 029-134 937 416)× 1 (15.960 Mb) and arr[GRCh37]11q24.1q24.3(123 144 040-130 308 335)× 1(7.164 Mb),respectively.All chromosomal aberrations in these fetuses were de novo as no abnormalities were found in their parents through karyotyping.All abnormal CMA results were confirmed by multiplex ligation-dependent probe amplification.Conclusions Jacobsen syndrome should be considered when fetuses are diagnosed with congenital cardiac abnormalities by ultrasound.CMA can be used to accurately diagnose Jacobsen syndrome and determine the region and size of chromosome deletion.