Prenatal sonographic findings of Down syndrome: review of 94 cases

Article Abstract:

Prenatal diagnosis of Down syndrome (trisomy 21, a genetic disorder associated with physical and mental impairment) is commonly recommended for older pregnant women and women with low levels of alpha-fetoprotein (a protein associated with pregnancy) in their blood. However, fewer than half of all Down syndrome fetuses are detected by these methods. Evidence is accumulating that results from ultrasound imaging (which uses sound waves to visualize internal structures) can also be used to identify Down syndrome fetuses. To evaluate this, sonograms (ultrasound films) of 94 fetuses with Down syndrome were evaluated, with attention focused on the abnormalities associated with Down syndrome. The sonograms had all been taken before Down syndrome was diagnosed. The abnormalities associated with Down syndrome include cardiac and digestive system defects and growth retardation. Results showed that 31 fetuses had a total of 37 abnormalities on ultrasound. These included cardiac defects, duodenal atresia (abnormal closure of part of the digestive system), cystic hygromas (fluid-filled tumors), and other abnormalities. A detailed discussion is provided of the findings. More defects were found in older fetuses (after 14 weeks' gestation) than younger. Although ultrasound may be an important diagnostic aid for detecting Down syndrome fetuses, the fact that most (two thirds) of the Down syndrome fetuses surveyed did not appear abnormal argues against using this method as a screening test. Instead, improving tests for biochemical markers may more reliably lead to better prenatal detection rates. (Consumer Summary produced by Reliance Medical Information, Inc.)

Birth defects

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Biparietal diameter/femur length ratio, cephalic index, and femur length measurements: not reliable screening techniques for Down syndrome

Article Abstract:

Down syndrome is a genetic defect associated with reduced intelligence and physical abnormalities. It occurs in approximately one of every 700 births, and the majority of such infants are born to women younger than 35, who do not routinely undergo prenatal testing for genetic defects. Thus, an inexpensive, relatively simple method of determining whether a fetus has Down syndrome is highly desirable. One such approach is the ratio between the biparietal diameter (BPD, the distance between two 'landmarks', or bony prominences, on the skull) and the length of the femur (the long bone of the upper leg), said to be exaggerated in Down syndrome fetuses. To evaluate the predictive ability of this ratio, an investigation of the medical records from 17 Down syndrome fetuses was undertaken. Measurements made on this group of fetuses were compared with those taken from a matched control group of similar gestational age (approximately 17 weeks) without Down syndrome. Results showed that the BPD/femur length ratio declined with gestational age as the growth rate of the femur exceeded that of the skull. However, there were no differences in the ratio, or in other skull or femur measurements or ratios between them, between Down syndrome fetuses and normal fetuses. A discussion of head measurements in Down syndrome fetuses is presented. The sensitivity (number of true positive results divided by the sum of true positives and false negatives) of the method was under 18 percent. The results indicate that the BPD/femur length ratio is not an accurate screening measurement for Down syndrome. (Consumer Summary produced by Reliance Medical Information, Inc.)

Measurement, Fetus, Anthropometry

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Acute maternal morbidity following classical cesarean delivery of the preterm infant

Article Abstract:

Cesarean section delivery can be performed using either an incision across the lower segment of the uterus (low segment transverse) or vertically (classical incision). Since there are more complications such as bleeding and intestinal obstruction associated with a classical incision, low segment incisions are performed more often. In selected cases however, where a low segment incision is not feasible (such as a preterm delivery involving an underdeveloped lower uterine segment), the classical incision is generally used. To see if the complication rate among preterm deliveries performed before the 37th week of pregnancy is affected by the type of incision, results of 77 classical incisions and 101 low transverse cesarean sections were compared. The number of patients having an infection of the uterus (endometritis), requiring blood transfusion, or developing fever, urinary tract infection, or spinal headache, as well as the number of days spent in the hospital, were compared in both groups. The number of maternal complications was similar in both groups. Blood transfusions were given to 11.9 percent of the patients having the low transverse incision and 22.1 percent of the patients having the classical incision, but this difference was not statistically significant. This study did not examine the effect the two types of incision had on the outcome of the fetus. Although the classical type of incision did not carry an increased risk of maternal complications, it should still be reserved for selected preterm deliveries. (Consumer Summary produced by Reliance Medical Information, Inc.)

Causes of, Complications and side effects, Pregnancy, Complications of, Pregnancy complications, Cesarean section

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