Prenatal diagnosis and follow-up of fetuses withshort femur detected by ultrasonography
Objective To promote and benefit prenatal consultation for families with fetuses affected by short femur(SF)(≤-2SD),the prenatal diagnosis results and pregnancy outcomes of pregnant women with fetuses with SF and postnatal growth levels of SF fetus were analyzed.Methods A total of 35 pregnant women who were diagnosed with femoral development≤-2SD through ultrasound and received invasive prenatal diagnosis at the department of prenatal diagnosis of Huai'an Maternal and Child Health-Care Center between December 2018 and December 2022 were selected for the study.According to the fetal ultrasound findings,the fetus was divided into the isolated SF group and the SF with other abnormal ultrasound findings group.The prenatal diagnosis results including chromosomal microarrays(CMA)and trio whole exome sequencing(Trio-WES),pregnancy outcomes,and growth levels between the two groups were followed up and compared.Results The pathogenic chromosomal abnormality diagnosis rate for SF fetuses was 5.71％(2/35),with 4.76％(1/21)in the isolated SF group and 7.14％(1/14)in the SF with other ultrasound abnormalities group.The overall Trio-WES diagnostic rate for SF fetuses was 26.32％(5/19),with 33.33％(4/12)in the isolated SF group and 14.29％(1/7)in the SF with other ultrasound abnormalities group.The induction rate for pregnant women with SF fetuses was 22.86％(8/35),the pregnancy loss rate was 17.14％(6/35),and the live birth rate was 54.29％(19/35).There were no statistically significant differences between the two groups in terms of induction rate,pregnancy loss rate,or live birth rate(P＞0.05).After birth,19 SF fetuses were successfully followed up,aged 3 to 48 months,and no other abnormalities were observed.The height level was in the lower and lower-middle range in 57.89％(11/19),with 63.64％(7/11)in the isolated SF group and 50.00％(4/8)in the SF with other ultrasound abnormalities group.There was no statistically significant difference between the two groups(P＞0.05).Conclusion The chromosomal abnormality diagnosis rate for SF fetuses was 5.71％,and the Trio-WES diagnostic rate was 26.32％.The combination of both methods is an optimized approach for genetic etiology diagnosis of SF.After excluding genetic causes,pregnant women carrying SF fetuses still have a relatively high pregnancy loss rate.After birth,the frequency of SF fetuses with height levels in the lower-middle range was relatively high.
short femurprenatal diagnosispregnancy outcomegrowth levelfollow-up
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