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Objective To determine the image feature and clinical value of first-trimester ultrasonographic diagnosis of fetal holoprosencephaly.Methods A total 35 580 fetuses at gestational age between 11 + 6 and 13 + 6 weeks were scanned in our hospital by color Doppler ultrasound according to the prenatal ultrasound from Jan 2009 to Jan 2017.Fetal craniocerebral and faceprestige were checked carefully.Cases of fetal holoprosencephaly diagnosed in first-trimester were followed sonographically,and the clinical outcomes were recorded.Results Totally five cases of fetal holoprosencephaly were detected.Four fetuses with other associated malformations were detected by first trimester ultrasound,including one case with beak nosetril,eyes too close,one case with beak nosetril,fetal cleft lip and palate,fetal hydrops,congenital heart disease and mid gut herniation,one case with thickened nucha.One translucency (NT),one case with mandibular micrognathia,one case with trisomy 13 syndrome,the other four cases were not checked.Terminal of pregnancy was performed in four cases during early pregnancy,one case was loss to follow-up.Autopsy was refused in these cases.Fetal appearance revealed one case of cleft lip,single nostril,mandibular micrognathia,one case of hydrops,polyphalangia,microtia,one case of beak nosetril,fetal cleft lip and palate,mid gut herniation,hydrops,one case of beak nosetril,eyes too close.Conclusion Fetal holoprosencephaly can be effectively detected and diagnosed during early pregnancy with standardized prenatal ultrasound.
RESUMO
Objective To determine the imaging features and clinical value of first-trimester ultrasonographic screening of fetal megacystis in multifetal pregnancy.Methods Retrospective analysis was undertaken in 2159 cases of multifetal pregnancy screened in our hospital at gestational age from 11th to 13 + 6th weeks by color Doppler ultrasound between Jan 2011 and April 2016.Fetal bladder was defined by showing two umbilical arteries and the longitudinal length of the bladder was measured in mid-sagittalplane.Clinical progression of fetal megacystis diagnosed in first-trimester were followed and the outcomes were recorded.Results Totally six cases of fetal megacystis in multifetal pregnancy were detected,in which five cases were detected in one fetus of twin pregnancy and the other case was detected in one fetus of triplet pregnancy.In all cases of fetal megacystis,longitudinal length of the fetal bladder was more than 7 mm and double umbilical arteries were detected.In two cases of naturally-occurring twin pregnancy,abortion was performed and postnatal autopsy revealed prune belly syndrome.In the rest four cases of multifetal pregnancy through in vitro fertilization-embryo transfer (IVF-ET),two cases of twin pregnancies underwent selective feticide.The other two cases of twin and triplet pregnancies refused intervention,among which still birth happened in the megacystis fetus and spontaneous fetal death at gestational age of 13 + 2 weeks happened in the monochorionic monoamniotic twins of the triplet pregnancy.Totally,four live babies were born,among which three were healthy.The other baby was found to have 1.5 Mb deletion in chromosome 17q12 by microarray at gestational age of 32 weeks due to increased renal echogenicity.Conclusions First-trimester ultrasonography can effectively detect and diagnose megacystis in multifetal pregnancy.Early diagnosis and timely intervention are helpful for improving the outcome of fetal megacystis in multifetal pregnancy.