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Imaging Studies of Parents of Fetuses With Sonographic Anomalies of Uncertain Prognosis
To the Editor: Fetal ultrasound examination has become part of routine prenatal care in many countries.1-3 Such mass screening of healthy fetuses may result in incidental detection of anomalies that have limited functional significance. Nonetheless, the detection of an isolated fetal structural anomaly may create a dilemma when its prognostic significance is unknown. We report a series of cases in which examination of the asymptomatic parents revealed comparable anomalies.
Methods
We studied 14 118 consecutive fetal ultrasonographic examinations performed on self-referred patients or those referred by their physician. This large series reflects the tendency to perform an ultrasonographic examination of almost every pregnant patient in our area. The examination is mostly performed by transvaginal sonography at 14 to 16 weeks' gestation and by abdominal sonography at 18 to 26 weeks' gestation. A total of 12 269 women (86.9%) were at low risk for fetal anomalies or hereditary or congenital syndromes, whereas 1849 (13.1%) were at increased risk (eg, due to exposure to medications, family history of congenital malformations, or consanguinity). In cases in which an isolated fetal anomaly with an uncertain prognosis was observed (ie, anomalies that have been reported in healthy persons but have also been associated with adverse clinical outcome), parents were offered amniocentesis or cordocentesis (depending on gestational age) and imaging examination of the parents (ultrasound, computed tomography, or magnetic resonance imaging). In cases in which the latter 2 imaging procedures were relevant, the father was tested first. If no anomaly was found, the mother was counseled and informed of the possible adverse effects of the imaging procedure during pregnancy. All parents provided informed consent prior to all studies.
Results
Structural abnormalities were detected in 296 of the 14 118 fetuses studied (2.1%). Ultrasonic scanning failed to detect anatomic anomalies in 15 fetuses later found to have such anomalies (10 with ventricular septal defect; 2 with aortic stenosis; 1 each with total anomalous pulmonary venous drainage, common atrioventricular canal, and polydactyly), thus giving a false negative rate of 4.82%. We found 30 cases in which solitary anomalies with an uncertain prognosis were detected and for which the parents underwent screening. For 7 specific anomalies, representing a total of 30 patients, 8 patients had an asymptomatic parent with a similar malformation (Table 1). A familial tendency has not been described for many of these anomalies. All 8 fetuses underwent karyotyping and were found to have a normal chromosomal analysis, and all had a favorable outcome.
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Table. Cases in Which Parental Imaging Was Offered After Detection of a Solitary Fetal Structural Anomaly
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Comment
In assessing a fetal anomaly of uncertain significance, examination of the asymptomatic parents may add valuable information. If a similar anomaly is present in either parent, this may be reassuring. However, it remains unclear whether the same structural anomaly would have similar clinical presentation and prognosis in the offspring.
AUTHOR INFORMATION
Acknowledgment: We thank Karl Skorecki, MD, FRCP(C), for extensive help in analyzing the results and preparing the manuscript.
Moshe Bronshtein, MD;
Etan Z. Zimmer, MD
Department of Obstetrics and Gynecology
Shraga Blazer, MD
Department of Neonatology
Rambam Medical Center
Technion–Israel Institute of Technology
Haifa
1. Leivo T, Tuominen R, Sarri-Kemppainen A, Ylostalo P, Karjalainen O, Heinonen OP. Cost-effectiveness of one-stage ultrasound in pregnancy: a report from the Helsinki ultrasound trial. Ultrasound Obstet Gynecol. 1996;7:309-314.
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2. Ecker JL, Frigoletto FD. Routine ultrasound screening in low-risk pregnancies: imperative for further study. Obstet Gynecol. 1999;93:607-610
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3. Romero R. Routine obstetric ultrasound. Ultrasound Obstet Gynecol. 1993;3:303-307.
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Letters Section Editors: Stephen J. Lurie, MD, PhD, Senior Editor; Jody W. Zylke, MD, Contributing Editor.
JAMA. 2001;285:737-738.
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