Significance of echogenic foci in the fetal heart.
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Aneuploidy↗
Biomedical subjects
W Sepulveda
Publications and source records attributed to W Sepulveda.
Fetal prognosis in varix of the intrafetal umbilical vein.
To assess the clinical significance of varix of the intraabdominal portion of the umbilical vein, we reviewed 10 cases diagnosed prenatally by ultrasonography at a median gestational age of 27 weeks. A comprehensive anatomic survey and serial follow-up scans were performed in each case. All three fetuses with associated anomalies died in utero, and prenatal karyotyping revealed that two of them had a chromosomal abnormality. In six of the seven cases with structurally normal fetuses the pregnancy proceeded uneventfully, and no neonatal complications were attributed to the umbilical vein varix. Our experience and the review of the literature revealed 42 cases with information on fetal outcome. Overall, 24% of the fetuses died, 12% had a chromosomal abnormality, and 5% developed hydrops. We conclude that fetuses with varix of the intrafetal umbilical vein should be considered at risk for poor outcome. However, if no other anomalies are present, the prognosis is generally good.
Female↗
Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings.
The survival of infants with trisomy 14 mosaicism has been scarcely reported in the literature, with only 15 cases being documented up to 1992. We present a case of a dichorionic twin pregnancy in which prenatal sonography at 24 weeks' gestation showed that one of the twins had several anomalies including intrauterine growth restriction, alobar holoprosencephaly, a cleft lip and palate, a recessive chin, a small stomach, overlapping fingers, a ventricular septal defect, and polyhydramnios. Twin 2 was structurally normal. In view of the lethal condition and associated polyhydramnios affecting one of the twins, prenatal surveillance for signs of tense polyhydramnios and premature labour was undertaken. The pregnancy proceeded uneventfully until 37 weeks, at which time a Caesarean section was performed. At birth, neonatal blood from the abnormal twin confirmed trisomy 14 mosaicism in 12 per cent of lymphocytes. The infant died on day 36 of life.
Adult↗
Rise in caesarean births in Chile.
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Cesarean Section↗
Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation.
OBJECTIVE: Our purpose was to examine the feasibility of diagnosing the Meckel-Gruber syndrome at 11 to 14 weeks' gestation, both in high-risk pregnancies and during routine ultrasonographic screening for fetal chromosomal abnormalities. STUDY DESIGN: The high-risk population consisted of 9 pregnancies in 7 women with previous pregnancies affected by the Meckel-Gruber syndrome. At 11 to 14 weeks' gestation, systematic ultrasonographic examinations of the fetal skull, brain, kidneys, bladder, hands, and feet were undertaken in each case. The low-risk population consisted of 21,477 self-referred pregnancies undergoing first-trimester ultrasonographic screening for chromosomal defects at 11 to 14 weeks' gestation. RESULTS: The triad of fetal occipital encephalocele, bilateral polycystic kidneys, and postaxial polydactyly was detected by transabdominal ultrasonography and confirmed by transvaginal scanning in 4 of the 9 pregnancies in the high-risk group. The parents were counseled of the likely recurrence of the Meckel-Gruber syndrome, and all elected to terminate the pregnancy by transcervical evacuation at 12 to 13 weeks. In the low-risk population the only case of Meckel-Gruber syndrome was identified at 13 weeks; in the remaining screened pregnancies there were no other cases of termination of pregnancy or neonatal death with the diagnosis of Meckel-Gruber syndrome. CONCLUSION: This report demonstrates that the Meckel-Gruber syndrome can be confidently detected at the 11- to 14-week scan in both high- and low-risk populations.
Cerebellum↗
Medical amnioreduction with sulindac to reduce cord complications in monoamniotic twins.
OBJECTIVE: Cord entanglement is a common complication of monoamniotic twins and it is associated with high perinatal mortality. Apart from preterm delivery, no treatment has previously been used to reduce the risks of this complication. We postulated that reducing amniotic fluid volume would stabilize fetal lie and reduce the risk of cord compression. STUDY DESIGN: Cord entanglement was documented in three cases of monoamniotic twins in the midtrimester. Sulindac was administered to the mother. Amniotic fluid index, fetal urine output, and umbilical artery and ductus arteriosus Doppler waveforms were investigated before and during treatment by use of real-time and pulsed Doppler techniques. RESULTS: Sulindac was associated with a dose-related reduction in amniotic fluid index and fetal urine production without alteration in fetal flow velocity waveforms. Fetal lie stabilized after commencement of treatment. All six twins were delivered with no complications. CONCLUSION: Medical amnioreduction with sulindac is a new management option in monoamniotic twins to reduce cord complications.
Amniotic Fluid↗
Crown-chin length in normal and anencephalic fetuses at 10 to 14 weeks' gestation.
OBJECTIVE: Our goal was to establish a reference range for the fetal crown-chin length at 10 to 14 weeks' gestation and to determine its usefulness in the prenatal detection of anencephaly in the first trimester. STUDY DESIGN: Women attending our center for transabdominal ultrasonographic screening at 10 to 14 weeks' gestation were prospectively recruited for this study. The crown-chin length was measured in a sagittal view of the fetal head, which included the fetal profile, from the highest point of the head to the most anterior aspect of the jaw. Nomograms for the crown-chin length and the ratio of the crown-chin length to the crown-rump length according to gestational age were generated. Additionally, the crown-chin length and the ratio of the crown-chin length to crown-rump length were obtained from a subset of 13 anencephalic fetuses and plotted against the reference range. RESULTS: In normal fetuses the crown-chin length increased (Crown-chin length = 65.2 x Gestational age in days - 28.4; r = 0.74%, p <0.0001) and the ratio of the crown-chin length to the crown-rump length decreased (Ratio of crown-chin length to crown-rump length -17.2 x Gestational age in days + 60.5; r = 0.23, p <0.0001) with advancing gestation. In anencephalic fetuses crown-chin length measurements and the ratio of the crown-chin length to the crown-rump length were below the 5th percentile in 77% and 62% of the cases, respectively. The slope of change in the ratio of the crown-chin length to the crown-rump length with gestational age was significantly different in anencephalic fetuses compared with normal fetuses (t = 2.7, p <0.003). CONCLUSION: Measurement of the crown-chin length at 10 to 14 weeks' gestation provides a technique that can assist in the early recognition of anencephaly.
Anencephaly↗
Relationship between change in amniotic fluid index and volume of fluid removed at amnioreduction.
OBJECTIVE: To determine the relationship between the change in amniotic fluid index (AFI) and the volume of fluid removed at amnioreduction. METHODS: In a prospective study of 20 twin and 19 singleton pregnancies undergoing amnioreduction for severe polyhydramnios, AFI was measured immediately before and after the procedure and was correlated with the volume of fluid withdrawn. RESULTS: A significant linear relationship was found between AFI change and the volume drained in all pregnancies (Y = -4.2X; R2 = 0.49; P = .002). This relationship was similar in singleton and twin pregnancies. However, there was a significant absolute difference in AFI change between singleton and twin pregnancies of 7.9 cm (95% confidence interval 0.41, 15.2; P = .04). CONCLUSION: These findings support the use of the four-quadrant AFI as a semiquantitative index of amniotic fluid volume. This relationship can be used to predict the drainage volume required to achieve a target AFI with amnioreduction and thus avoid repeated AFI measurements during the procedure itself.
Adult↗
Evolution of the lambda or twin-chorionic peak sign in dichorionic twin pregnancies.
OBJECTIVE: To study the sonographic evolutaion of the chorionic tissue projection at the intertwin membrane-placental junction, or lambda sign, or twin-chorionic peak sign, in dichorionic twin pregnancies and to determine the effect of placental location on its prevalence during the first half of pregnancy. METHODS: We prospectively recruited women with twin pregnancies undergoing sonographic screening for chromosomal abnormalities at 10-14 weeks' gestation for this study. The presence or absence of the lambda sign and the position of the placenta(s) were recorded in all cases. The presence of the lambda sign was evaluated prospectively at 16 and 20 weeks' gestation. RESULTS: There were 101 twin pregnancies with a lambda sign identified at 10-14 weeks' gestation, 67 with fused placentas and 34 with separate placentas. At 16 weeks, the lambda sign was present in all 67 pregnancies with fused placentas (100%) and in 31 of 34 (91%) pregnancies with separate placentas. At 20 weeks, the lambda sign was present in 25 of the 34 (74%) pregnancies with separate placentas and in 62 of the 67 (93%) with fused placentas. The lambda sign was identified subsequently in none of the 53 pregnancies in which it was absent at 10-14 weeks' gestation. CONCLUSIONS: At 10-14 weeks' gestation, twin pregnancies with the lambda sign can be classified as dichorionic and pregnancies with absent lambda sign can be classified as monochorionic and therefore monozygotic. At 16-20 weeks, the lambda sign is indicative of dichorionicity but its absence does not exclude dizygosity.
Adolescent↗
Prenatal detection of congenital inherited cataracts.
In a high-risk pregnancy for ocular defects, routine second-trimester ultrasonography revealed a highly echogenic area within the fetal left eye with no other associated abnormalities. The diagnosis of congenital cataracts was confirmed after birth. Examination of the fetal face is an important part of prenatal ultrasonography, and visualization of the fetal eyes and lenses should be included in the routine assessment of facial anatomy. This is especially important in pregnancies at risk for congenital cataracts or for other anomalies affecting the fetal eye.
Cataract↗
Chorionicity determination in twin pregnancies: double trouble.
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Chorion↗
Effects of embryo reduction from trichorionic triplets to twins.
Sixty-six trichorionic triplet pregnancies reduced to twins were compared with 47 triplet pregnancies that were not reduced. The miscarriage rate was higher (7.6% compared with 2.6%) but the number delivering between 24 and 32 weeks was lower (8.2% compared with 24.0%). Since severe preterm delivery is associated with risks of neonatal death and severe handicap, embryo reduction of triplets to twins may not improve the chance of survival but may reduce the rate of handicap.
Abortion, Spontaneous↗
The hidden mortality of monochorionic twin pregnancies.
In an ultrasound screening study at 10 to 14 weeks of gestation for measurement of fetal nuchal translucency thickness there were 102 monochorionic and 365 dichorionic twin pregnancies. In the monochorionic compared with the dichorionic pregnancies there was a higher rate of fetal loss before 24 weeks of gestation (12.2% versus 1.8%), perinatal mortality (2.8% versus 1.6%), prevalence of delivery before 32 weeks (9.2% versus 5.5%), and prevalence of birthweight below the 5th centile in both twins (7.5% versus 1.7%). However, the proportion of pregnancies with a birthweight discordancy of more than 25% was similar in the two groups (11.3% versus 12.1%).
Abortion, Spontaneous↗
Management of twin pregnancies discordant for anencephaly.
OBJECTIVE: To examine options of management and outcome of twin pregnancies discordant for anencephaly. DESIGN: Retrospective study. SETTING: Research Centre for Fetal Medicine. POPULATION: Twenty-four twin pregnancies discordant for anencephaly. METHODS: A computer search was made of our database for twin pregnancies discordant for anencephaly. The data were reviewed for gestation at presentation, chorionicity, management and pregnancy outcome. MAIN OUTCOME MEASURES: Pregnancy outcome in relation to chorionicity and management. RESULTS: There were 13 dichorionic and 11 monochorionic twin pregnancies discordant for anencephaly. In the dichorionic group five pregnancies had selective fetocide at 17 to 21 weeks; one pregnancy resulted in spontaneous abortion but in the others a healthy infant was born at a median gestation of 37 weeks. The other eight dichorionic pregnancies were managed expectantly, but three developed polyhydramios at 26 to 30 weeks; in one case amniodrainage was performed and in another selective fetocide was carried out. In this group the median gestation at delivery was 35 weeks. All 11 monochorionic pregnancies were managed expectantly and in three there was intrauterine death of both fetuses. In the other eight cases the normal twin was liveborn at a median gestation of 34 weeks; in four of these pregnancies polyhydramnios developed and two were managed by amniodrainage. CONCLUSIONS: In monochorionic pregnancies, expectant management is associated with a high rate of intrauterine lethality of the normal twin. In dichorionic pregnancies selective fetocide in the second trimester prevents the development of polyhydramnios and is associated with a lower risk of preterm delivery but can cause miscarriage.
Anencephaly↗
Abdominal circumference in fetuses with congenital diaphragmatic hernia: correlation with hernia content and pregnancy outcome.
To assess the value of abdominal circumference measurements in the second trimester as a predictor of mortality in fetuses with congenital diaphragmatic hernia, 34 fetuses with this condition who had had second trimester ultrasonographic evaluation were analyzed retrospectively for abdominal circumference measurements, content of the hernia, and pregnancy outcome. The abdominal circumference was below the fifth percentile in nine of the 27 fetuses (33%) with an isolated defect and in five of the seven fetuses (71%) with additional anomalies. In fetuses with isolated congenital diaphragmatic hernia, an abdominal circumference measurement below the fifth percentile was associated with the presence of the liver (P < 0.05) but not of the stomach in the chest. In 19 continuing pregnancies with an isolated defect, all five fetuses with an abdominal circumference below the fifth percentile either died prenatally (n = 1), soon after birth (n = 1), or after surgery (n = 3). In contrast, only six of the 14 fetuses (43%) with an abdominal circumference measurement within the normal range died, either soon after birth (n = 2) or after surgery (n = 4) (P < 0.05). We conclude that an abdominal circumference measurement below the fifth percentile in the second trimester appears to be a good predictor of a poor prognosis in fetuses with congenital diaphragmatic hernia.
Abdomen↗
Prenatal sonographic findings associated with lymphangioma of the chest wall.
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Adult↗
Prenatal diagnosis of diastematomyelia: case reports and review of the literature.
Diastematomyelia is a rare malformation characterized by complete or incomplete division of the spinal cord by osseous or fibrocartilaginous septum. Most cases are seen in association with other anomalies of the vertebral column such as spina bifida, kyphoscoliosis, butterfly vertebra, and hemivertebra. In this report we describe two cases of isolated diastematomyelia detected at routine second-trimester detailed ultrasound scan, the most striking feature being the detection of an echogenic focus in the posterior aspect of the spine in association with widening of the interpedicular vertebral space. The prenatal literature is reviewed to assess the clinical significance of this finding.
Adult↗
Prenatal sonographic diagnosis of cleidocranial dysostosis.
Cleidocranial dysostosis is an autosomal dominant disorder characterized by absence or hypoplasia of the clavicles, skull abnormalities, and abnormal dentition. The prenatal diagnosis of this condition has been reported once previously in a known high-risk pregnancy. In this report we describe the prenatal findings of cleidocranial dysostosis at 19 weeks' gestation in a woman affected with this disorder but undiagnosed before the fetal scan. This report is unique in the sense that an autosomal dominant condition diagnosed in the fetus led to a similar diagnosis in the mother.
Adult↗