Amniocentesis Performed for Karyotyping after Identified Ultrasonographic Abnormalities: What to Expect?

Abstract

Objectives: The aim of this study was to evaluate the relative risk of identifying fetal chromosomal anomalies after finding ultrasonographic (US) abnormalities in a high-risk population who underwent amniocentesis. Methods: A retrospective review of a cohort of patients with single pregnancies who underwent genetic amniocentesis was undertaken. Univariate and multivariate analysis were used to determine the best correlations between US findings and chromosomal abnormalities. Results: Overall, 191 chromosomal abnormalities were found in 5,604 fetuses (3.4%). Multivariate analysis showed chromosomal abnormalities were significant ly associated with anomalies of the central nervous system (OR = 4.4, 95% CI 2.2-8.7), face and neck (OR = 15.7, 95% CI 9.2-26.8), heart (OR = 5.4, 95% CI 2.6-11.2), abdomen (OR = 5.6, 95% CI 2.9-10.9), extremities (OR = 5.7, 95% CI 2.4-13.4), an increased nuchal fold (OR = 5.2, 95% CI 3.3-8.1), an intrauterine growth restriction (OR = 3.6, 95% CI 1.6-7.9) and a short femur (OR = 4.1, 95% CI 1.4-12.1). Conclusions: Our results confirm the validity of specific US markers in detecting chromosomal abnormalities in the fetus.

Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience

“…In our study, 4.7% of the amniocentesis cases had fetal chromosomal abnormalities, which was within the 0.9 -6.7% range reported previously (Han et al 2008;Gaudry et al 2012;Tseng et al 2006;Danisman et al 2013;Mademont-Soler et al 2011;Caron et al 1999;Sirivatanapa et al 2000;Choi et al 2005;Chang et al 2012;Zhang et al 2011;Karaoguz et al 2006;Coskun et al 2009;Balkan et al 2011;Jang and Choi 2007;Sim et al 2004). Abnormal maternal serum screening tests, followed by advanced maternal age, were the leading reasons for prenatal diagnosis.…”

“…Due to the high transmission probability, this was an expected fi nding, similar to reports of rates up to 40.6% (Gaudry et al 2012;Mademont-Soler et al 2011;Chang et al 2012). Th e aneuploidy rate of a previous fetus with a congenital anomaly (5.5%) was a slightly higher than reported previously (Han et al 2008;Chang et al 2012).…”

“…Th is rate was much higher than the indications for advanced maternal age and abnormal maternal serum-screening tests when used either alone or together. Fetal anomalies had the highest positive predictive values in previous studies, with rates of 3% and 14% (Han et al 2008;Gaudry et al 2012;Tseng et al 2006;Choi et al 2005;Coskun et al 2009;Nicolaides et al 1992). Since we aimed to evaluate all abnormal fi ndings diagnosed by ultrasonography, we combined the ultrasound markers with abnormal ultrasound fi ndings category.…”

“…Since we aimed to evaluate all abnormal fi ndings diagnosed by ultrasonography, we combined the ultrasound markers with abnormal ultrasound fi ndings category. In the studies of Gaudry et al (2012), Danisman et al (2013), Mademont-Soler et al (2011) and Coskun et al (2009), the detection rates of some ultrasound markers, such as increased nuchal translucency, thickened nuchal fold and choroid plexus cysts, were evaluated independently. For a better comparison with our study, we analysed the chromosomal abnormality rates of these markers in the group that had abnormal ultrasound fi ndings.…”

Risk for chromosomal aberrations in apparently isolated intrauterine growth restriction: A systematic review

“…Kappa coefficient for comparison of interrater reliability was 0.92 during the title and abstract search stage (95% CI 0.88 to 0.97) and 0.92 at full‐text evaluation (95% CI 0.81 to 1.0). Finally, 14 references comprising 874 cases of apparently isolated IUGR on ultrasound examination were included in the review . Two authors were contacted for data clarification, mainly to inquire about the timing of sonographic diagnosis and type of data acquisition (eg, retrospective); however, no reply was received.…”