Isolated short femur alone in the mid-trimester fetus is not associated with increased risk of aneuploidy: a clinical study in eastern India

Authors

  • Kalyansree Chaudhury Department of Obstetrics & Gynaecology, Burdwan Medical College, Burdwan, India
  • Kanchan Mukherjee Remedy Medical Services, Kolkata, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20160886

Keywords:

Soft marker, Isolated short femur, Fetal aneuploidy

Abstract

Background: Identifying the soft markers during the anomaly scan improves the detection rate of fetal aneuploidy at the cost of increased false-positive rate and consequent increased interventions. Isolated short femur is one such soft marker that puts the clinician into a dilemma. The aim of this study is to assess the risk of aneuploidy in the fetus with isolated short femur, so that the data can be used for counseling the prospective parents in our population.

Methods: In this retrospective study, all the fetuses of 43 mothers, at the time of ultrasound scan between 18-20 weeks of gestation for fetal anomaly, were found to have isolated short femur. Depending on the presence of other soft markers, the mothers were divided into two groups, group I containing mothers having fetus with only isolated short femur and group II containing mothers having fetus with one or more soft marker in addition to isolated short femur. The chromosomal status of all the fetuses was checked by either amniocentesis and karyotyping or birth of a phenotypically normal baby.

Results: There was no aneuploidy in the group I containing fetuses with isolated short femur only.  Our results are consistent with other international studies.

Conclusions: Isolated short femur alone does not increase the existing risk of fetal aneuploidy.

References

Nyberg DA, Souter VL, El-Bastawissi A, Scott Y, Luthhardt F, Luthy DA. Isolated Sonographic Markers for Detection of Fetal Down Syndrome in the Second Trimester of Pregnancy. J Ultrasound Med. 2001;20:1053-63.

Bromley B, Lieberman E, Shipp TD, Benacerraf BR. The Genetic Sonogram: a method of risk assessment for Down syndrome in the second trimester. J Ultrasound Med. 2002;21:1087-96.

Van den Hof MC, Wilson RD et al. Fetal Soft Markers in Obstetric Ultrasound. J Obstet Gynaecol Can. 2005;27(6):592-612.

Todros T, Capuzzo E, Gaglioti P. Prenatal diagnosis of congenital anomalies. Images Paediatr Cardiol. 2001;3(2):3-18.

Chitty LS, Altman DG, Henderson A, Campbell S. Charts of fetal size: 4. Femur length. Br J Obstet Gynaecol. 1994;101:132-5.

Chitty LS, Altman DG, Henderson A, Campbell S. Charts of fetal size: 3. Abdominal measurements. Br J Obstet Gynaecol. 1994;101:125-31.

Hadlock FP, Harrist RB, Sharman RS, Deter RL, Park SK. Estimation of fetal weight with the use of head, body and femur measurements - a prospective study. Am J Obstet Gynecol. 1985;151:333-7.

Weisz B, David AL, Chitty L, Peebles D, Pandya P, Patel P, et al. Association of isolated short femur in the mid-trimester fetus with perinatal outcome. Ultrasound Obstet Gynecol. 2008;31:512-6.

Todros T, Massarenti I, Gaglioti P, Biolcati M, Botta G, Felice CD. Fetal short femur length in the second trimester and the outcome of pregnancy. BJOG. 2004;111:83-5.

Todros T, Plazzotta C, Pastorin L. Body proportionality of the small-for-date fetus: is it related to aetiological factors? Early Human Dev. 1996;45:1-9.

Zalel Y, Lehavi O, Schiff E et al. Shortened fetal long bones: a possible in utero manifestation of placental function. Prenat Diagn. 2002;22:553-7.

Vergani P, Locatelli A, Piccoli MG. Critical reappraisal of the utility of sonographic fetal femur. length in the prediction of trisomy 21. Prenat Diagn 2000;20:210-4.

Morales-Rosello J and LLorens NP. Outcome of Fetuses with Diagnosis of Isolated Short Femur in the Second Half of Pregnancy. ISRN Obstetrics and Gynecology. 2012:1-5.

Shipp TD, Bromley B, Mascola M, Benacerraf B. Variation in fetal femur length with respect to maternal race. J Ultrasound Med. 2001;20:141-4.

Kovac CM, Brown JA, Apodaca CC, Napolitano PG, Pierce B, Patience T, Hume RF Jr, Calhoun BC. Maternal ethnicity and variation of fetal femur length calculations when screening for Down syndrome. J Ultrasound Med. 2002;21:719-22.

Drooger JC, Troe JW, Borsboom GJ, Hofman A, Mackenbach JP, Moll HA, et al. Ethnic differences in prenatal growth and the association with maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2005;26:115-22.

Downloads

Published

2016-12-27

Issue

Section

Original Research Articles