Ultrasound and genetic diagnosis of 2 cases of fetal limb malformation in early pregnancy
Objective This study reported the NT ultrasound findings and prenatal gene diagnosis of 2 fetuses with seal limb malformation in early pregnancy.Methods Two cases of seal limb malformation diagnosed by NT ultrasound were included in the prenatal diagnosis center of Gansu Provincial Maternal and Child Health Care Hospital in December 2020 and August 2021,and their ultrasonic images and malformation characteristics were summarized,and genetic diagnosis was per-formed by chromosome karyotype examination and CNV-seq detection.Results The two cases were from the same pregnant woman.Case 1 underwent labor induction after NT ultrasound diagnosis,and labor induction was a stillbirth.Combined with prenatal ultrasonography and autopsy appearance,it was confirmed that the deformed child was a complete seal limb with two upper limbs and a complete seal limb with two lower limbs.The results of fetal chromosome karyotype examination and CNV-seq test showed that(X)(p22.33q28)del 155.27 Mb was a monomer of X chromosome,also known as Turner syndrome.The results of chromosome examination in aborted tissue were consistent with the results of fleecing.Karyotype analysis showed 45,X0[10％]/46,XN[90％]chimeras.The fetus was naturally conceived again six months later and still had complete seal limbs,skin edema and neck hygroma.After ultrasound diagnosis and labor induction treatment,the abortion tissue WES found paternal SLC26A2 c.870delG and maternal SLC26A2 c.1020-c.1022delTGT pathogenic gene variation(LP grade).Conclusion NT ultrasound using continuous sequential tracking ultrasound can clearly diagnose the"seal limb"de-formity in early pregnancy,which is helpful to evaluate the prognosis in early clinical stage.
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