Early prenatal diagnosis of cleft lip and its potential impact on the number of babies with cleft lip.
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Biomedical subjects
Publications and source records attributed to M Bronshtein.
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The objective of the study was to define the sonographic features of various echogenic materials which have been observed in the amniotic cavity of pregnancies in the early second trimester. The study population consisted of women who underwent a transvaginal ultrasound scan of pregnancy at 14-16 weeks' gestation. Our experience in 6500 examinations performed in both low- and high-risk pregnancies is reported; 249 cases of intra-amniotic debris were identified in this population. Five different types of echogenic material were observed in the amniotic fluid: small floating particles, round structures, cystic structures, solid and semi-solid masses and highly echogenic material which looked like calcification. We conclude that intra-amniotic echogenic material may be observed during early pregnancy. Its origin and clinical significance need further evaluation.
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Nine patients with oligohydramnios and amnio-chorionic separation were identified out of 7000 women who underwent a vaginal ultrasound examination at 15-16 weeks' gestation. Oligohydramnios was defined as a reduced amount of amniotic fluid, a distance of more than 1 cm between the chorion and amnion, and a good turgor of the amnion without floating membranes of intrauterine sheets. Fetal malformations were observed in all nine cases. In four of six fetuses where chromosomal analysis was available, an abnormal karyotype was found. It is concluded that oligohydramnios in the early second trimester is associated with fetal abnormality.
The sonographic markers of female and male external genitalia have been documented in early and late gestation. The aim of the present study was to report our experience of possible sonographic markers of fetal genital anomalies. Sonography was performed with a vaginal probe in early gestation and an abdominal sector scanner in advanced gestation. The following genital anomalies were observed: hypospadias, epispadias, ambiguous genitalia, and testicular feminization or Smith-Lemli-Opitz syndrome. It is therefore concluded that prenatal diagnosis of some genital anomalies is now possible.
The presence of chorio-amniotic separation and amnion anomalies was recorded in 9500 patients referred for vaginal ultrasound examination at 14.5-16 weeks' gestation. In all patients with a change in the amnion, a search for fetal anomalies was performed and pregnancy outcome was checked. Amnion dysmorphism was observed in 30 cases. The main findings were a floating membrane which changed its configuration when the uterus was tilted and multiple intrauterine amniotic sheets. In no case was attachment of the fetus to the membranes noted. There was no fetal abnormality and pregnancy outcome was favourable in all patients. In conclusion, ultrasound visualization of amnion dysmorphism in early pregnancy is not associated with an adverse pregnancy outcome.
A study of 6350 consecutive transvaginal ultrasound examinations was performed as part of a routine fetal evaluation. Twenty-one cases (0.33 per cent) of early second-trimester sonographic detection of minor renal abnormalities (unilateral renal agenesis, pelvic kidney, and double collecting system) are presented. The sonographic diagnosis was made at 14-18 weeks of pregnancy and confirmed, in all of the 21 fetuses, postnatally or by post-mortem. A high incidence of associated fetal anomalies (24 per cent) and parental renal abnormalities (14 per cent) was demonstrated. Transvaginal sonography was found to be a useful tool for diagnosing these renal anomalies as early as 14 weeks of pregnancy. The likelihood of various associated anomalies and long-term implications on renal function raise questions concerning the prenatal management of such patients.
OBJECTIVE: To evaluate the combined transvaginal and transumbilical ultrasonographic approach in cases of elevated amniotic fluid (AF) alpha-fetoprotein (AFP) and/or acetylcholinesterase in the second trimester. METHODS: Nine pregnant women with normal sonographic results were referred because of elevated AF AFP and/or acetylcholinesterase and screened using a transvaginal and transumbilical 6.5-MHz ultrasound transducer. All women were at 17-21 weeks' gestation. The fetal skull and the vertebral column were scanned in both perpendicular and tangential planes for maximal exploitation of the axial resolution of the transducer, in both directions and in two to three planes. RESULTS: Despite increased AF AFP and/or present acetylcholinesterase, no fetal malformation was detected in any of the nine cases. Open neural tube defects were not detected by the diagnostic technique. All nine women were delivered of term healthy neonates without malformations. CONCLUSION: Our preliminary data suggest that targeted sonographic screening combining transvaginal and transumbilical approaches may reliably rule out an open neural tube defect larger than 0.3 mm. This may influence the decision-making process when termination of pregnancy is considered in cases of high AF AFP and/or positive acetylcholinesterase.
OBJECTIVE: To report our experience with the prenatal diagnosis of hepatic calcification. METHODS: Routine ultrasonography was done in 24,600 consecutive pregnancies of 14-26 weeks' gestation. Detailed sonographic studies, amniocenteses, and chromosomal, bacteriologic, virologic, and serologic investigations were performed in each case with calcifications. RESULTS: Hepatic calcifications were diagnosed in 14 fetuses--an incidence of one in 1750--at gestational ages of 15-26 weeks. Twelve fetuses had one or two calcified foci, one fetus had four scattered foci, and one had diffuse calcification of the liver as well as peritoneal and intestinal calcifications. Three fetuses (21%) had associated severe malformations: two with trisomy 18 and one with dwarfism and hydronephrosis; these fetuses were aborted. One fetus with polyhydramnios and calcifications within the bowel died in utero; an autopsy was not allowed, but the external examination was normal. No case had serologic evidence of recent infection with Toxoplasma, rubella virus, cytomegalovirus, herpes simplex virus, or syphilis. Amniotic fluid (and neonatal urine where applicable) cultures for cytomegalovirus were negative. Ten fetuses were normal at birth, and nine of them were followed-up for a period of 4 months to 4.5 years. All were found to be healthy and thriving children. CONCLUSION: Our experience indicates that fetal hepatic calcification is not a rare ultrasonographic finding, and each fetus with such calcifications should be thoroughly evaluated for malformations, chromosomal anomalies, and viral infection. If the work-up is negative, subsequent neonatal outcome carries a good prognosis.
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Fetal axillary cystic hygroma has been reported rarely and only as a sonographic finding late in gestation. A retrospective study of 19,200 early second trimester screening ultrasonograms for anomalies revealed five cases of axillary cystic hygroma. All of the axillary hygromas were small, transient, nonloculated cysts. Three cysts were associated with chromosomal abnormalities: trisomy 21 in two cases and a single case of trisomy 18 in which structural abnormalities also were detected. Early fetal axillary cystic hygroma appears to be different from postnatal axillary cysts on the basis of differences in prevalence, structure, and appearance. It also may be a normal variant in the development of the fetal lymphatic system.
The prenatal sonographic diagnosis of fetal finger abnormalities was recorded in a study population of 20,000 pregnant patients. All scans were performed with a vaginal transducer at 13 to 17 weeks' gestation. The following abnormalities were observed: six cases of polydactyly, three of syndactyly, nine cases of overlapping fingers, two cases of cleft hands, two cases of adactyly, one case of aphalangia, and one case of clasped thumb. In 15 of the 25 fetuses with finger abnormalities, we observed associated malformations or chromosomal disorders, or both. We therefore recommend that examination of the fingers and hands should become an integral part of the early ultrasonographic evaluation of the fetus.
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Out of 13,252 cases in which fetal bilateral echogenic kidneys were detected by transvaginal sonography between 12 and 18 weeks' gestation, there were nine fetuses where oval hypoechogenic masses were detected in the renal bed. In five fetuses where hypoechogenic masses in the renal bed were sonographically visualized, postabortal examination was compatible with renal agenesis and the hypoechogenic masses proved to be enlarged adrenals. In three additional cases, unilateral renal agenesis was accompanied by unilateral enlarged adrenals, radiologically confirmed postnatally. In one case, a false-positive sonographic diagnosis of Potter syndrome was made because of bilateral hypoechogenic masses in the renal bed. Postabortal examination detected hypoplastic kidneys, but of normal histology, in a dyskaryotic fetus with trisomy 22. In four cases of renal agenesis, the amniotic fluid was of normal volume until the 17th week. In two of the five cases of Potter syndrome, a cystic structure, compatible with the urinary bladder, was detected in the pelvis at 14 weeks. The diagnostic criteria for renal agenesis in the early fetus differ from those used in the second half of gestation.
Sonographic measurements of the umbilical cord and vessels were performed in 368 uncomplicated pregnancies, and nomograms of their growth were constructed. All measurements were obtained in appropriate for gestational age fetuses in pregnancies with accurate dating. From the above measurements, an estimate of Wharton's jelly quantity (expressed as square millimeters) was calculated. The nomograms presented add another biometric measurement of normally growing fetuses and may serve to differentiate between them and those who are found to have umbilical cord abnormalities.
OBJECTIVE: To describe the detection of cleft lip in the early second trimester using transvaginal sonography. METHODS: We analyzed retrospectively 14,988 ultrasound examinations conducted for fetal malformations between 12-16 weeks' gestation. Seventy-five percent of the patients were at low risk for fetal anomalies and 25% were at high risk. RESULTS: Eleven cases of fetal cleft lip with or without cleft palate were detected by transvaginal sonography among 14,988 fetuses (0.07%). In nine cases, no risk factors for cleft lip or palate existed. In six cases, the cleft lip represented an isolated malformation, with no other associated anomaly; in five of these six cases, the pregnancy was terminated. One additional case of a small cleft lip was not detected, for a false-negative rate of 8%. CONCLUSIONS: The fetal lips can be scanned by transvaginal sonography in the early second trimester, and fetal cleft lip can be detected in most cases. Early second-trimester detection of cleft lip by transvaginal sonography allows informed parental choice regarding continuing or terminating the affected pregnancy.