Indications for Fetal Invasive Procedures at the End of an Era

Abstract

Purpose The introduction of first trimester screening has changed the attitude towards and the number of invasive procedures in prenatal medicine. We evaluated the indications in patients who underwent an invasive procedure before the introduction of the analysis of cell-free fetal DNA in maternal plasma in prenatal medicine.

Materials and Methods 680 pregnant women between the 10th and 35th week of gestation were included in the study from July 1, 2010 to June 30, 2013. Retrospectively, we reviewed the data for indications, type, gestational age at the time of, and result of the invasive procedure.

Results We performed 247 chorionic villus samplings (CVSs) and 433 amniocenteses (ACs) during the study interval. The main indication for CVS was an abnormal result from the first trimester screening (75 %), whereas in AC it was advanced maternal age (39 %). 33 % of all CVSs and 8 % of all ACs revealed an abnormal karyotype. All these findings were significantly different.

Conclusion Despite the broad acceptance of first trimester screening, there are still women undergoing AC for advanced maternal age, whereas abnormal results from the first trimester screening are the most common indication for CVS. Based on our results, we can conclude that indications derived from first trimester findings have the highest positive predictive value.

Zusammenfassung

Ziel Die Einführung des Ersttrimester-Screening hat sowohl die Einstellung zur invasiven Diagnostik als auch deren Häufigkeit nachhaltig verändert. Wir haben die Indikationen zur invasiven Diagnostik vor Einführung der Untersuchung von zellfreier fetaler DNA untersucht.

Material und Methoden 680 Patientinnen zwischen der vollendeten 10. und 35. Schwangerschaftswoche wurden von Juli 2010 bis Juni 2013 in die Studie eingeschlossen. Retrospektiv wurden die Daten nach Indikationen, Schwangerschaftsalter bei Punktion, Art der Punktion und Ergebnis der invasiven Diagnostik untersucht.

Ergebnisse Im Untersuchungszeitraum wurden 247 Chorionzottenbiopsien (CVS) und 433 Amniozentesen (AC) durchgeführt. Die Hauptindikation für eine CVS war ein auffälliges Ergebnis aus dem Ersttrimester-Screening (75 %), wohingegen die AC hauptsächlich wegen erhöhten mütterlichen Alters > 35 (Altersindikation) durchgeführt wurde (39 %). 33 % aller CVS und 8 % aller AC zeigten eine auffälligen Karyotyp. Diese Unterschiede waren jeweils signifikant.

Schlussfolgerung Trotz der breiten Akzeptanz des Ersttrimester-Screening gibt es immer noch Schwangere die eine AC wegen erhöhten mütterlichen Alters durchführen lassen, während die CVS vor allem wegen auffälliger Befunde im ersten Trimenon durchgeführt wird. Wir konnten zeigen, dass diese Indikation den höchsten Vorhersagewert bzgl. eines auffälligen Karyotyps hat.

Key words

invasive procedure - amniocentesis - chorionic villus sampling - fetus

• References:

• 1 Jacobsen CB. Barter RH. Intrauterine diagnosis and management of genetic defects. Am J Obstet Gynecol 1967; 99: 796-805
• 2 Modell B. Chorionic villlus sampling. Evaluation safety and efficacy. Lancet 1985; 8431: 737-740
• 3 Schulte-Vallentin M. Schindler H. Non-echogenic nuchal oedema as a marker in trisomy 21 screening. Lancet 1992; 339: 1053
• 4 Nicolaides KH. Azar G. Byrne D. et al. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 1992; 304: 867-869
• 5 Snijders RJM. Johnson S. Sebire NJ. et al. First-trimester ultrasound screening for chromosomal defects. Ultrasound Obstet Gynecol 1996; 7: 216-226
• 6 Kagan KO. Etchegaray A. Zhou Y. et al. Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol 2009; 34: 14-18
• 7 Ekelund CK. Jorgensen FS. Petersen OB. et al. Impact of a new national screening policy for Down’s Syndrome in Denmark: population based cohort study. BMJ 2008; 337: a2547
• 8 Nadel AS. Likhite ML. Impact of first-trimester aneuploidy screening in a high-risk population. Fetal Diagn Ther 2009; 26: 29-34
• 9 Lichtenbelt KD. Alizadeh BZ. Scheffer PG. et al. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000–2009. Prenat Diagn 2011; 31: 765-772
• 10 Morgan S. Delbarre A. Ward P. Impact of introducing a national policy for prenatal Down syndrome screening on the diagnostic invasive procedure rate in England. Ultrasound Obstet Gynecol 2013; 41: 526-529
• 11 Hagen A. Entezami M. Gasiorek-Wiens A. et al. The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age. Ultraschall in Med 2011; 32: 302-306
• 12 Arzt W. Klement F. Veit I. et al. Effect of noninvasive first trimester diagnosis on indications and results of chorion villi sampling. Ultraschall in Med 2012; 33: 245-250
• 13 Engels MA. Bhola SL. Twisk JW. et al. Evaluation of the introduction of the national Down syndrom screening program in the Netherlands: age-related uptake of prenatal screening and invasive diagnostic testing. Eur J Ob Gyn Repord Biol 2014; 174: 59-63
• 14 Willruth A. Vieten J. Berg C. et al. Decision Making and Attitudes towards Invasive Prenatal Diagnosis in the Early Second Trimester. Ultraschall in Med 2010; 31: 515-519
• 15 Siljee JE. Knegt AC. Knapen MF. et al. Positive predictive value for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007–2009). Prenat Diagn 2014; 34: 259-264
• 16 Mademont-Soler I. Morales C. Clusellas N. et al. Prenatal cytogenetic diagnosis in Spain: analysis an evaluation of the results obtained from amniotic fluid samples during the last decade. Eur J Ob Gyn Reprod Biol 2011; 157: 156-160
• 17 Louis-Jacques A. Burans C. Robinson S. et al. Effect of commercial cell-free fetal DNA tests for aneuploidy screening on rates of invasive testing. Obstet Gynceol 2014; 123: 67S