Prenatal Diagnosis of Skeletal Dysplasias: What Can CT Do for You?

Skeletal dysplasias (SDs) are a heterogeneous group of heritable disorders that affect development of bone and cartilage. Because each SD is individually rare and because of the heterogeneity within and among disorders, prenatal diagnosis of a specific SD remains challenging. Molecular genetic diagnosis involves invasive testing, which some patients are not amenable to. Further, genetic analysis is time consuming, and results may not become available in time to make pregnancy management decisions. Low-dose fetal CT can aid in the prenatal evaluation of SDs. The main downside is the low but true risk of fetal radiation exposure. As such, fetal CT should only be performed when there is concern for a severe skeletal dysplasia and the diagnosis is in question after a detailed ultrasound or if molecular genetic testing is unavailable and when prenatal diagnosis may affect management or counseling. Fetal CT should be obtained after consultation with geneticists, maternal-fetal medicine specialists, and fetal radiologists, and sometimes orthopedic surgeons or neonatologists. The purpose of this study was to review the technique of and indications for fetal CT, as well as discuss fetal radiation risk. Illustrative cases will demonstrate when and how CT may be helpful in the diagnosis of SDs.

Fetal radiation dose of four tube voltages in abdominal CT examinations during pregnancy: A phantom study.

This study aimed to compare the dose and noise level of four tube voltages in abdominal computerized tomography (CT) examinations in different abdominal circumference sizes of pregnant women. Fetal radiation doses were measured with two anthropomorphic pregnant phantoms and real-time dosimeters of photoluminescence sensors using four tube voltages for abdominal CT. The noise level was measured at the abdomen of two anthropomorphic pregnant phantoms. In the large pregnant phantom, the mean fetal doses performed using 120 and 135 kV were statistically significantly lower than the lower tube voltages (P < 0.05). In the small pregnant phantom, the mean fetal dose performed by 100, 120, and 135 kV was significantly lower than the lowest tube voltage tested (P < 0.05). The ratios of the peripheral mean dose to the centric mean dose showed that the ratios of 80 kV were the highest and those for 135 kV were the lowest in both pregnant phantoms. The ratios of the peripheral mean dose to the centric mean dose decreased as the tube voltage increased. Compared with low tube voltages, high tube voltages such as 120 and 135 kV could reduce radiation doses to the fetus without compromising the image uniformity in abdominal CT examinations during pregnancy. On low tube voltage protocols, the dose near the maternal skin surface may be increased in large pregnant women because of reduced penetration of the x rays.

What Is New in Prenatal Skeletal Dysplasias?

OBJECTIVE: The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias. CONCLUSION: Skeletal dysplasias are a heterogeneous group of disorders affecting bone and cartilage and characterized by abnormal shape, growth, and integrity of the skeleton. These disorders may be inherited in a multitude of genetic patterns-autosomal dominant, autosomal recessive, somatic mosaic, imprinting errors of metabolism, X-linked, and teratogenic exposure. Most are monogenic diseases. The prenatal diagnosis is challenging; the findings are first seen during routine ultrasound.

Radiation dose reduction at MDCT with iterative reconstruction for prenatal diagnosis of skeletal dysplasia: preliminary study using normal fetal specimens.

OBJECTIVE: The purpose of this study was to investigate to what degree the radiation dose can be reduced without affecting the ability to evaluate normal fetal bones at MDCT with iterative reconstruction. MATERIALS AND METHODS: Fifteen normal fetal specimens immersed in containers (30- and 35-cm diameter) were scanned with a 64-MDCT scanner, with tube voltage of 100 kVp and tube current of 600, 300, 150, 100, and 50 mA. Images were subjected to adaptive statistical iterative reconstruction (ASIR). The fetal dose was measured using glass dosimeters. We calculated the relative ratio of the dose at 600 mA. Image quality was evaluated on maximum-intensity-projection and volume-rendering images. Two radiologists recorded the visualization scores of five regions. Images at 600 mA were considered to be standard. RESULTS: With the 30-cm-diameter container, the fetal dose was 10.15 mGy (relative ratio, 100%) at a tube current of 600, 51% at 300, 25% at 150, 17% at 100, and 9% at 50 mA. With the 35-cm-diameter container the fetal dose was 10.01 mGy (relative ratio, 100%) at 600, 47% at 300, 24% at 150, 17% at 100, and 8% at 50 mA. Visual evaluation showed that in both containers, with ASIR 90%, there was a statistically significant difference between 50-and 600-mA images (p<0.01) but not between 600-mA images and those acquired at 100, 150, and 300 mA (p=0.08-1.00). CONCLUSION: The fetal radiation dose for the evaluation of normal fetal bones can be reduced by 83% with ASIR 90%.

Evaluation of exposure dose in fetal computed tomography using organ-effective modulation.

Organ-effective modulation (OEM) is a computed tomography scanning technique that reduces the exposure dose to organs at risk. Ultrasonography is commonly used for prenatal imaging, but its reliability is reported to be limited. Radiography and computed tomography (CT) are reliable but pose risk of radiation exposure to the pregnant woman and her fetus. Although there are many reports on the exposure dose associated with fetal CT scans, no reports exist on OEM use in fetal CT scans. We measured the basic characteristics of organ-effective modulation (X-ray output modulation angle, maximum X-ray output modulation rate, total X-ray output modulation rate, and noise modulation) and used them in a Monte Carlo simulation to evaluate the effect of this technique on fetal CT scans in terms of image quality and exposure dose to the pregnant woman and fetus. Using ImPACT MC software, Monte Carlo simulations of OEMON and OEMOFF were run on 8 cases involving fetal CT scans. We confirmed that the organ-effective modulation X-ray output modulation angle was 160°; the X-ray output modulation rate increased with increasing tube current; and no modulation occurred at tube currents of 80 mA or below. Our findings suggest that OEM has only a minimal effect in reducing organ exposure in pregnant women; therefore, it should be used on the anterior side (OEMON,front) to reduce the exposure dose to the fetus.