ABSTRACT
Objective To summarize and analyze the prenatal ultrasonic manifestations of 17q12 microdeletion syndrome ,so as to provide help for prenatal diagnosis . Methods It carried out a retrospective analysis of 21 cases of 17q12 microdeletion syndrome prenatally confirmed by chromosomal microarray analysis(CMA) in the third affiliated hospital of Zhengzhou University from 2015 .01 to 2018 .05 . Prenatal ultrasound findings were collected . A close follow-up was given for the cases . Results Of the 21 fetus ,20 cases were presented with bilateral hyperechogenic kidneys ,and 1 case showed duodenal obstruction . There were 4 cases accompanied with polyhydramnios ,8 cases with mild polyhydramnio ,and 9 cases with normal amniotic fluid index . Parents of 6 fetus underwent chromosomal examination ,of which 2 cases were inherited from the mother and 4 cases had new chromosomal mutations;Seven cases had a family history of diabetes and 3 cases had a family history of kidney disease;Twelve cases performed induced labor ,2 cases lost follow-up and 1 case was unborn . Six cases were born ,of the 6 cases ,1 case associated with mild dysmorphic facial features , and 1 case associated with bilateral renal cysts . Conclusions 17q12 microdeletion syndrome has specific prenatal ultrasound characteristics ,while echogenic kidneys are of great value in the diagnosis of 17q12 microdeletion syndrome prenatally .
ABSTRACT
Objective To investigate the prenatal ultrasonographic features of absent pulmonary valve syndrome APVS Methods The ultrasonographic images follow-up results and the other clinical data of 1 7 fetuses suffering from APVS were retrospectively analyzed According to the difference of the pulmonary artery diameter subjects were divided into pulmonary artery PA dilated group 14 cases and non-dilated group 3 cases The sonographic features of the two groups were analyzed and compared Results All 1 7 fetuses had rudimentary or absent pulmonary valves and stenosis of the pulmonary annulus Moderate or severe regurgitation flowed through pulmonary artery and right ventricular outflow in diastole PA dilated group might be combined with Tetralogy of Fallot double outlet of right ventricle or right ventricular aneurysm there were 85 7% 12 14 with absent ductus arteriosus The forward flow velocity during systole through pulmonary annulus was significantly fast PA non-dilated group could be accompanied by Ebstein's anomaly or tricuspid atresia Ductus arch was always present The forward flow velocity during systole through pulmonary annulus was slow Conclusions The fetal pulmonary artery diameter with APVS can dilate or not Reverse flow during diastolic period which rushes from arteriosus ductus to the right ventricular outflow tract contributes to the prenatal diagnosis of non-dilated PA.