First trimester transvaginal sonographic diagnosis of fetal anomalies.
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Biomedical subjects
Publications and source records attributed to M Bronshtein.
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Fetal cystic hygroma is a congenital malformation of the lymphatic system appearing as a single or multiloculated fluid-filled cavity, most often in the nuchal region. The malformation is believed to arise from failure of the lymphatic system to communicate with the venous nuchal system. Sometimes the lesion progresses to fetal hydrops, causing fetal death. To further delineate the cause and natural history of this disorder, we have prospectively studied eight cases of cystic hygroma of the neck, detected at gestational ages of 9 to 15 weeks by transvaginal sonography. Three of the eight fetuses survived (37.5%) and were normal at birth. Either hydrops fetalis or intrauterine fetal death occurred in the other five fetuses. In one of these five, therapeutic abortion was induced because of trisomy 21. In another fetus of these five, trisomy 18 was diagnosed by amniocentesis. This pregnancy ended in intrauterine fetal death. The ultrasonic evaluation of the cystic hygromas revealed that those that were reabsorbed in the three ultimately normal viable fetuses were nonseptated cysts, whereas all the four cystic hygromas ending in fetal death or associated with aneuploidy were septated, multilocular hygromas. In another fetus with nonseptated hygroma, nonimmune hydrops developed, which resulted in premature delivery and early neonatal death.
An in vitro sonographic model was developed to simulate the transvaginal sonographic appearance of hair-containing cystic teratomas of the ovary. Two groups of patients with ovarian teratomas were compared: group A--consisting of 32 patients scanned before the simulation model was used, and group B--consisting of 25 patients in whom the diagnosis of hair-containing ovarian teratomas was made after the simulation model experience. The positive predictive value of transvaginal sonography in correctly diagnosing this type of tumor was 27/32 (84%) in group A and 25/25 (100%) in group B. By using this simple in vitro simulation model, the preoperative diagnosis of ovarian cystic teratomas by transvaginal sonography was made very accurate, enabling prospective planning of the type of operation and its timing.
Fetal intracranial pathology detected in the early second trimester during 1237 transvaginal sonographic scans is presented. In a sharp contrast to simple choroid cysts, which disappear at the end of the second trimester as part of a benign course, gross distortion of the choroid plexus was found to be related to the later diagnosis of hydrocephalus. Three patterns of this abnormality are early absence of the plexus, hypoplasia and shrinkage, and "Swiss cheese" appearance. Ventriculomegaly in hydropic fetuses does not distort the normal architecture of the choroid plexus. Certain abnormal features of the choroid plexus, observed as early as the 14th week, menstrual age, are landmarks of developing hydrocephalus, currently detectable only later in pregnancy.
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Transvaginal ultrasound evaluation of the fetal digestive system was performed on 1000 fetuses at 5 to 14 weeks' gestation. The normal physiologic process of the midgut herniation into the cord as well as the embryonal connection between the yolk sac and fetus were detected. Peristalsis of the stomach was noted as early as 14 weeks' gestation. Because gastric emptying is probably improper at this age, gastric pseudomasses were visualized in some cases.
OBJECTIVE: To evaluate the natural history of isolated ultrasound markers for fetal aneuploidy observed at 14-16 weeks of affected gestations. STUDY DESIGN: 76 aneuploid gestations were diagnosed among a predominantly low-risk population undergoing targeted ultrasonography in the early second trimester. Indications for evaluation of fetal karyotype included fetal malformations or sonographic markers for aneuploidy, maternal age over 35 years and abnormal serum screening results. Markers were re-evaluated at the time of amniocentesis or at pregnancy termination for fetal anomalies. RESULTS: Sonographic markers for aneuploidy (SMA) were observed in 68 of 76 aneuploid gestations diagnosed in the study group. In 46 cases, SMA were associated with major fetal malformations and in 22 cases, markers were isolated. Only 2 of 22 isolated markers for aneuploidy were documented at the time of amniocentesis. CONCLUSION: Isolated ultrasound markers for aneuploidy are transient and may disappear later on in gestation. Transvaginal sonography at 14-16 weeks of gestation appears to provide the best time window for detection of markers for fetal abnormal karyotype.
A fetus affected by trisomy 18 was observed serially on ultrasound from 14 to 21 weeks of gestation. The earliest and sole dysmorphic feature noted at 14 weeks of gestation were nonseptated nuchal cysts. At 17 weeks the ultrasound examination was considered normal. However, at 21 weeks gestation, bilateral choroid plexus cysts, clubfoot, growth retardation and overlapping fingers were observed. These findings suggest that the dysmorphology associated with trisomy 18 is dynamic in nature and may change along the course of pregnancy.
The alpha-fetoprotein concentration in the amniotic fluid of 51 fetuses with isolated nuchal edema and normal karyotypes was compared to that of the next 51 patients of comparable gestational age with normal ultrasounds and karyotypes. The mean alpha-fetoprotein in amniotic fluid was 1.26 +/- 0.45 in the nuchal edema group and 1.01 +/- 0.3 in controls (t = 3.287, p = 0.002). Acetylcholinesterase evaluation was indicated by abnormally elevated alpha-fetoprotein in 4% of amniotic fluid samples from the study group and none of the controls. We concluded that alpha-fetoprotein is higher in amniotic fluid from pregnancies with isolated fetal nuchal edema and normal karyotype. Possible leakage of protein from enlarged cervical lymphatics associated with fetal nuchal edema may explain these findings.
Transvaginal ultrasonography is a relatively new technique for visualizing the orbits in a fetus of 4 to 5 cm. At fifteen weeks of gestation it is possible to recognize the lenses and the hyaloid arteries in the eyes, to diagnose structural malformations such as anophthalmos, microphthalmos, buphthalmos and moderate to severe cataract. In most cases cataracts were associated with intracranial defects. We describe a case where the sonographic diagnosis of fetal cataract was confirmed by histopathological examination. A 27-year-old woman had a routine transvaginal sonography at 15 weeks' normal gestation. Microphthalmos without a hyaloid artery and disorganization of the anterior chamber and lens consistent with cataract were demonstrated in the fetal left eye. In accordance with the parents' decision, the pregnancy was terminated a week later. Autopsy of the fetus was done and serial sections of the left eye were studied by light microscopy. Histopathological examination verified the sonographic diagnosis of fetal cataract in a microphthalmic eye. Associated findings included malformation of the anterior segment and retinal dysplasia.
A transvaginal sonographic (TVS) diagnosis of a tubal pregnancy and the absence of the contralateral fallopian tube and ovary are reported. To the best of our knowledge, no such pathological combination diagnosed by TVS has been reported previously. The identification of the tube and ovary by TVS and the meaning of an unvisualized ovary are reviewed briefly.
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