Abnormalities of the hands in the fetus: the place of ultrasound diagnostic

Introduction

The incidence of skeletal system anomalies is 30-35/100,000 deliveries. Thanks to sonography, antenatal diagnosis is possible in large number of skeletal anomalies. By careful examination, it is possible to notice number, form and movement disorders of hands and feet as well as fingers and toes. Prenatal diagnosis includes ultrasound examinations and prenatal invasive diagnostic methods. Anomalies of the hand may be associated with triploidy and trisomy of 13,18 and 21 chromosome.

Objective

Our aim was to present case of prenatally diagnosed fetal malformation-abnormal development of the right hand and the importance of ultrasound diagnosis in the decision to end a pregnancy.

Methods

Case of pregnant women in 21 week of gestation (WG) was presented, where the ultrasound diagnosis of fetal anomalies was set (malformation of fetal hand) which was promptly interrupted by inducing abortion.

Results and Case

During ultrasound examination (3D) in 21 WG, in patient P.K. 25 years old, it was established pregnancy with anomalous development of the right hand-the thumb has two phalanges, missing index finger, and there is only a part of the upper phalanx of the middle finger and the little and ring fingers have two phalanges. During ultrasound examinations movements of the wrist were normal. The rest of the morphology of the fetus looked normal. From history data patient states only hiperemesis symptoms in the first trimester of pregnancy. After signing the informed conset, under ultrasound control amniocentesis was performed and obtained 20 ml of clear amniotic fluid, which is sent to the cytogenetic testing. Analysis of amniotic fluid cells showed normal female karyotype 46,XX. Analysis was performed from two flasks on 16 metaphases. After reviewing the medical records-the ultrasound findings, the Ethics Commission of the Department of Gynecology and Obstetrics in Novi Sad made the decision to terminate the pregnancy.The patient was admitted to the Clinic of Gynecology and Obstetrics, Clinical Center of Vojvodina for abortion (registration number 3169/2014 in case history). Pregnancy is completed by induction of abortion with the use of 2 Prepidil gel and application of Prostin 15M. Extraction of the fetus was performed and instrumental revision of the uterus. Antibiotic therapy and therapy with uterotonics was administered. At autopsy confirmed the ultrasound diagnosis of these anomalies. On follow up after induced abortion ultrasound examinations showed normal uterine findings.

Conclusion

A case report shows the importance of 3D ultrasound as a reliable method for prenatal diagnosis of abnormalities of the skeletal system, careful antenatal fetal testing with the application of cytogenetics and off associated disorders and timely completion of pregnancy. Prenatal diagnostics today necessitates a multidisciplinary approach and thus prevent the birth of children with anomalies which are burden not only for their families, but also for whole society.

Keywords

Prenatal diagnosis, fetal skeletal system anomalies, 3D ultrasound.