| OBJECTIVESTo compare the detection rates of various prenatal genetic testing techniques for subjects prenatally diagnosed with isolated ventriculomegaly(IVM)with different degrees of severity,and to analyze and evaluate the clinical value of each genetic test in fetal isolated ventriculomegaly.The study aims to explore the choice of prenatal genetic testing techniques for fetuses with different degrees of ventriculomegaly,and provide reference for clinical practice and consultation.METHODSA retrospective cohort study was conducted on 903 singleton pregnant cases who underwent invasive prenatal diagnostic surgery due to ultrasound indications of fetal isolated ventriculomegaly at the Medical Genetics Center of Guangdong Women and Children Hospital from January 2015 to December 2022.The detection rates of chromosome karyotyping,chromosomal microarray analysis(CMA),exome sequencing(ES)and human cytomegalovirus(HCMV)testing were calculated and compared respectively.Based on the maximal width of fetal lateral ventricles by ultrasound screening,fetuses with the lateral ventricle width ranging 8-9.9 mm was classified as the normal-high group,10-11.9 mm as mild group,12-14.9 mm as moderate group,and 15 mm above as severe group.The differences in detection rates of prenatal genetic testings and pregnancy outcomes were compared among different classifications.All study subjects were followed up through medical records and telephone follow-up,and pregnancy outcomes and developmental situation of live births were recorded.RESULTS(1)The positive detection rates of chromosome karyotyping,CMA,ES,and HCMV were 3.50%,3.20%,17.28%,and 1.86%,respectively.Based on negative results from chromosome karyotyping,CMA had an additional detection rate of 1.2%(7/552),and ES had an additional detection rate of 14.28%(11/77)based on negative results from karyotyping or CMA.(2)There was no significant difference in the detection rates of chromosome karyotyping,CMA,and HCMV among the four IVM groups: normal-high,mild,moderate,and severe(P>0.05).The detection rate of ES in the severe IVM group was significantly higher than that in the mild and moderate groups(P<0.05).(3)The detection rates of chromosome karyotyping,ES,and HCMV in bilateral IVM groups were significantly higher than those in unilateral IVM groups(P<0.05),while there was no significant difference in CMA detection rates between this two groups(P>0.05).The live birth rate of fetuses in unilateral IVM groups was significantly higher than that in bilateral groups(P<0.0001).(4)The probability of adverse pregnancy outcome in IVM fetuses was about10%.The live birth rate in the severe group was significantly lower than that in other groups(P<0.05),and there was a significant difference in the live birth rate between the mild and moderate groups(P<0.05).The live birth rate in the progression group was significantly lower than that in the stable and absorbed groups(P<0.0001),and there was also a significant difference in the live birth rate between the regressive and absorbed groups(P<0.05).CONCLUSIONThe detection rates of karyotyping,CMA,and HCMV in IVM fetuses are not correlated with the severity of IVM,while the detection rate of ES is related to the severity of IVM.The more severe the IVM,the higher the detection rate of ES.The chromosomal karyotyping,HCMV,and ES detection rates in bilateral IVM fetuses were higher than those in unilateral IVM fetuses,while there was no significant difference in the positive detection rate of CMA between this two groups.When the fetal lateral ventricular width is within the normal-high value range,the detection rate of prenatal diagnosis results is lower,and the majority have a good prognosis.Progressive and bilateral IVM are both associated with adverse pregnancy outcomes.When the fetal IVM is over 10 mm,it is recommended for pregnant women to undergo invasive prenatal diagnosis surgery,as well as CMA,ES,and intrauterine infection testing. |
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