Frequency and prediction of persistent urinary tract dilation in third trimester and postnatal urinary tract dilation in infants following diagnosis in second trimester.

OBJECTIVE: To determine the frequency, associated characteristics and prognostic value of the current risk stratification system for prenatal urinary tract dilation (UTD) for predicting persistent UTD in the third trimester and subsequent postnatal UTD in the infant, following diagnosis in the second trimester. METHODS: This was a single-institution retrospective cohort study of singleton pregnancies diagnosed with unilateral or bilateral UTD in the second trimester (before 28 weeks' gestation) with follow-up in the third trimester (at or after 28 weeks) between January 2017 and May 2019. In all cases, the prenatal diagnosis and stratification to low-risk (Grade A1) or increased-risk (Grade A2-3) UTD was made using the 2014 UTD consensus classification system. The primary outcomes included persistent prenatal UTD in the third trimester and postnatal UTD up to 6 months of age. We performed multivariable analysis to assess whether patient and second- and third-trimester sonographic characteristics (such as UTD laterality, other renal abnormality (calyceal dilation, abnormal parenchymal appearance, abnormal ureter or bladder) and anteroposterior renal pelvic diameter (AP-RPD)) were associated with the study outcomes. We assessed the predictive value of the current risk stratification system (Grade A1 vs Grade A2-3) in the second and third trimesters for persistent prenatal UTD and postnatal UTD using the area under the receiver-operating-characteristics curve (AUC). RESULTS: Of 26 620 second-trimester ultrasound assessments in the study period, 347 patients were diagnosed with UTD in the second trimester and had third-trimester follow-up, of whom 150/347 (43% (95% CI, 38-49%)) had persistent UTD in the third trimester. Among the 282/347 (81%) patients with postnatal follow-up available, the frequency of postnatal UTD was 49/282 (17% (95% CI, 13-22%)), and among the subset with persistent UTD in the third trimester, the frequency of postnatal UTD was 46/102 (45% (95% CI, 35-55%)). The most frequent postnatal diagnosis was transient UTD (76%), followed by duplicated collecting system (10%). Of infants originally diagnosed with UTD in the second trimester, 2% (7/347) required surgery; stated differently, of the 49 infants with postnatal UTD, 14% (7/49) required surgery. At second-trimester diagnosis, sonographic predictors of both persistent prenatal UTD and postnatal UTD included the presence of other renal abnormality and UTD Grade A2-3. At third-trimester follow-up, predictors of postnatal UTD were larger mean AP-RPD and UTD Grade A2-3, while all cases had other renal abnormality. Second-trimester diagnosis of UTD Grade A2-3 had satisfactory discrimination for predicting persistent prenatal UTD (AUC, 0.64 (95% CI, 0.58-0.70)) and postnatal UTD (AUC, 0.72 (95% CI, 0.63-0.81)), as did third-trimester UTD Grade A2-3 for predicting postnatal UTD (AUC, 0.66 (95% CI, 0.56-0.76)). CONCLUSIONS: The majority of cases of prenatal UTD did not result in postnatal UTD, and of those that did, very few required surgery. Follow-up third-trimester assessment after a second-trimester diagnosis of UTD is warranted. The current risk stratification system by UTD grade, based on the 2014 UTD consensus classification, can be used to predict postnatal UTD with fair accuracy. Further research is needed to determine whether the predictive performance of this system can be improved by incorporating additional risk factors. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Adenomyosis: sonographic findings and diagnostic accuracy.

The purposes of this study were to evaluate the accuracy of pelvic sonography in identification of adenomyosis and to characterize the most commonly seen sonographic features. We identified all patients over a 10 year period in whom a prospective diagnosis of adenomyosis was suspected on the basis of sonographic findings and who had undergone hysterectomy at a single hospital. Patients were referred for sonography based on standard indications. Sonographic features used in the diagnosis of adenomyosis consisted of two or more of the following: a mottled inhomogeneous myometrial texture, globular appearing uterus, small cystic spaces within the myometrium, and a "shaggy" indistinct endometrial stripe. Correlation was made with the pathology report on the hysterectomy specimen. Fifty-one women met the study criteria. Forty-three of 51 (84.3%) patients sonographically suspected of having adenomyosis were confirmed as having adenomyosis by pathologic examination. All patients with adenomyosis had a mottled heterogeneous appearing uterus, 95% had a globular uterus, 82% had small myometrial lucent areas, and 82% had an indistinct endometrial stripe. Eight patients (15.6%) who had been suspected of having adenomyosis by pelvic sonography did not have adenomyosis reported in the pathology specimen. Six of these eight (75%) patients had multiple small fibroids, one had stage IV endometriosis, and one had a normal uterine specimen with no evidence of pathology. Pelvic sonography provides an accurate diagnosis of adenomyosis in the majority of cases.

The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: associated findings and outcomes.

Outcomes of pregnancies with sonographically diagnosed Dandy-Walker (DW) or Dandy-Walker variant (DWV) syndromes vary widely. We examined our own experience with these diagnoses in an effort to identify those sonographic features that best predicted neonatal outcome. We identified 50 fetuses with DW and 49 with DWV diagnosed sonographically. Eighty-six per cent of fetuses with DW and 85% of fetuses with DWV had other sonographically identifiable anomalies, the most common being ventriculomegaly (DW: 32%; DWV: 27%) and cardiac defects (DW:38%; DWV: 41%). Forty-six per cent and 36% of available karyotypes in cases of DW and DWV, respectively, were abnormal. 50 out of 99 women in our series elected pregnancy termination. Only three pregnancies with DW resulted in a living infant, and only one of these had a normal paediatric examination at six-week follow-up. Thirteen out of 49 infants with DWV survived the neonatal period and 7 of 13 were reported initially as normal infants, including six with an isolated finding of DWV. We conclude that overall, the prognosis for these posterior fossa defects is grim but not uniformly fatal. The presence of other anomalies is associated with the worst prognosis. Isolated Dandy-Walker variant has the highest chance of leading to a normal neonate.

Cervical varices: an unusual etiology for third-trimester bleeding.

We report an unusual etiology for third-trimester bleeding. A pregnant patient underwent sonographic evaluation after presenting in the third trimester with uterine contractions and bleeding per the vagina. Massive cervical varices were identified on prenatal sonography as the cause of the bleeding and resulted in cesarean delivery and gravid hysterectomy. Cervical varices may result in significant maternal morbidity despite prenatal diagnosis.

Unilateral lung hypoplasia: report of three cases.

We describe three cases of unilateral pulmonary agenesis as an etiological basis for a mediastinal shift in utero. This cause of mediastinal shift is easily overlooked in the differential diagnosis, which includes diaphragmatic hernia, adenomatoid cystic malformation, and sequestrations. The sonographic findings and obstetric outcome are presented.

Adnexal masses during pregnancy: accuracy of sonographic diagnosis and outcome.

We sought to determine the accuracy of sonographic diagnosis and perinatal outcome in pregnancies with maternal adnexal masses. All patients with a prenatal sonographic diagnosis of an adnexal mass measuring 4 cm or greater beyond 12 weeks of gestation were identified. Only masses associated with live fetuses, for which pathologic follow-up or direct visualization of the ovary was available at a single hospital, were included in the study. Sonographic evaluation of the pelvic mass was done prospectively at the time of the original scan and characterized on the basis of morphologic criteria. One hundred and twenty-five pregnant patients 21 to 47 years old with 131 lesions formed the study group. The pathologic diagnoses included 40 dermoids, 15 endometriomas, 14 cysts, 13 cystadenomas, nine tubal cysts, four fibroids, and one ovarian cancer. Six patients had complex pathologic lesions and five had unusual diagnoses. Twenty-four patients had normal ovaries on follow-up examination. Sonographically benign appearing lesions were seen in 89.3% of patients. Ninety-five percent of dermoids, 80% of endometriomas, and 71% of simple cysts were characterized correctly. Fourteen of the 131 lesions (10.7%) had sonographic characteristics suggestive of malignancy. One of these 14 patients (7%) had ovarian cancer. This represents a 0.8% malignancy rate among the total number of lesions. Twenty-four of the 125 patients (19%) underwent second trimester laparotomy at the discretion of their managing obstetricians, with no pregnancy losses. One patient had acute torsion of a dermoid at 39 weeks. Prenatal sonography can accurately characterize maternal adnexal lesions.

Choroid plexus cysts: not associated with Down syndrome.

We sought to determine whether there is an association between choroid plexus cysts identified in the second-trimester fetus and trisomy 21. Over a 7-year period, fetuses scanned between 14 and 22 weeks were prospectively evaluated for the presence of choroid plexus cysts. Follow-up on fetuses with choroid plexus cysts was obtained by review of the medical records. Over the same time period, the scans and reports of all fetuses with trisomy 21 detected in our laboratory by mid-trimester amniocentesis were reviewed. The prevalence of choroid plexus cysts in fetuses with and without trisomy 21 were compared by means of X2 analysis. A total of 473 fetuses with choroid plexus cysts were identified among 32,053 second-trimester fetuses. Sixteen fetuses were lost to follow-up, three had structural defects and normal karyotypes and 21 had abnormal karyotypes, two of which were trisomy 21. Other abnormal karyotypes included trisomy 18, unbalanced translocation and triploidy, previously reported elsewhere. The remaining 433 fetuses either had normal karyotypes or were normal newborns. The prevalence of choroid plexus cysts (excluding fetuses with trisomy 18) was 1.38% in our general population. During the study period, 143 fetuses with trisomy 21 were karyotyped in our laboratory, and two of these (1.40%) had choroid plexus cysts. Both had other sonographic abnormalities suggesting trisomy 21. The difference in prevalence of fetuses with choroid plexus cysts and trisomy 21 vs. those without trisomy 21 was not statistically significant (X2 = 0.98; relative risk (RR) = 1.02; 95% CI = 0.26, 4.03). We conclude that choroid plexus cysts occur with similar frequency in fetuses with trisomy 21 to that in fetuses from the general population. The finding of choroid plexus cysts should not be used to increase the patient's calculated risk of having a fetus with trisomy 21.

Fetal lung masses: prenatal course and outcome.

We describe 25 cases of echogenic or complex fetal lung masses seen sonographically and suspected of being cystic adenomatoid malformations or sequestrations of the lung. On the basis of prenatal sonographic appearance, 40% of fetuses were suspected of having type 1, 20% type 2, and 40% type 3 cystic adenomatoid malformations or sequestrations. Sixteen (64%) of the 25 fetuses with lung masses survived the perinatal period, and 80% of the nonaborted fetuses survived. Eleven infants (69% of liveborns) had no respiratory symptoms at birth. Nine of the survivors underwent surgical resections of their masses after birth, whereas the other seven children are being followed conservatively. The postnatal diagnoses revealed that four of the fetuses had sequestrations, one had a sequestration with elements consistent with cystic adenomatoid malformation, and two who were thought to have type 1 cystic adenomatoid malformation had an esophageal duplication cyst and a thoracic neuroblastoma, respectively. All the other infants who had a pathologic diagnosis or postnatal imaging had cystic adenomatoid malformations. Increasing mediastinal shift was associated with decreasing survival as 90% of fetuses with no mediastinal shift are alive, whereas 50% of the nonaborted fetuses with a severe mediastinal shift survived. Follow-up scans in utero were available in 15 cases. The size of the mass became smaller in 53% during gestation. Seventy-one percent of pregnancies had normal amniotic fluid volumes and 29% were complicated by polyhydramnios. Survival of nonaborted fetuses was 100% in pregnancies with normal amniotic fluid compared with 50% in those with polyhydramnios. Eight percent of the fetuses with chest masses had additional structural abnormalities and were karyotypically abnormal. In conclusion, many fetuses with lung masses show improvement of the sonographic findings in utero, and many infants may not be symptomatic at birth. Of the survivors in this series, only slightly greater than half underwent surgery.

Fetal liver calcifications: sonographic appearance and postnatal outcome.

PURPOSE: To determine the importance of intrahepatic calcifications seen sonographically in the fetus. MATERIALS AND METHODS: The authors retrospectively reviewed sonograms obtained in fetuses scanned between 16 and 40 gestational weeks in whom intrahepatic calcifications were seen. The number and character of these calcifications were determined. Follow-up scans obtained in utero and after birth were also reviewed. Outcome was determined after birth. RESULTS: Thirty-three fetuses had intrahepatic calcifications at 16-38 weeks gestation. Four of the 33 fetuses died, one of which had liver calcifications as the only sonographic finding. This fetus had cytomegalovirus and was the only fetus with increasing numbers of calcifications on follow-up scans. All fetuses with isolated liver calcifications had a normal postnatal outcome (96% survival rate for fetuses with isolated intrahepatic calcifications). Of eight fetuses with additional anomalies, five lived; only two were healthy newborns. CONCLUSION: The outcome in fetuses with isolated intrahepatic calcifications is usually excellent, although viral causes must be excluded if additional findings appear.

The ultrasonographic appearance and outcome for fetuses with masses distorting the fetal face.

Our objective was to determine the appearance, cause, and outcome of fetal face masses diagnosed antenatally by ultrasonography. Over a 6 year period, 10 consecutive fetuses with facial masses were identified. Ultrasonographic findings, neonatal pathologic findings, and outcome data were correlated. Four (40%) of the 10 fetuses died, including one with a palatal teratoma associated with a Dandy-Walker malformation and three with intracranial teratomas--one of which was associated with hydrops fetalis. Among the survivors, one fetus had a dacryocystocele that was managed conservatively and one had drainage of a salivary gland cyst. The remaining four neonates had successful excision of their tumors in the neonatal period and survived; these infants had a nasal teratoma, a thyroid teratoma, a gingival granular cell tumor, and a scalp hemangioma. Four of the 10 pregnancies had associated polyhydramnios, three of which ended in stillbirth or neonatal death. In conclusion, 40% of the fetuses with antenatal diagnosis of fetal facial masses did not survive. If those with intracranial teratomas are removed from this group, one of seven (14%) fetuses with extracranial masses died. The intracranial teratomas were uniformly fatal. Polyhydramnios was associated with poor outcome.

Prenatal sonographic detection of genital malformations.

Postnatal clinical and pathological correlation of sonographically identified genital malformations in 17 fetuses was undertaken to determine the outcome of these findings. Diagnoses confirmed at autopsy or by postnatal examination and surgery included male (XY) pseudohermaphroditism in 2 cases, hypospadias with chordee in 3, microphallus in 2, cloacal anomaly in 2, congenital adrenal hyperplasia in 3, penoscrotal transposition in 2, intra-abdominal testes in 1, megalourethra in 1 and cloacal exstrophy variant in 1. Additional abnormalities included congenital heart defects, cleft palate, and renal, anorectal, cranial and cerebral malformations. Four fetuses with a sonographically abnormal appearing phallus were found to have an endocrine disorder (3 congenital adrenal hyperplasia and 1 panhypopituitarism). Outcomes included 2 abortions and 1 neonatal death with the remaining neonates undergoing medical and reconstructive treatment. Prenatal detection of genital abnormalities can be helpful in evaluating those fetuses with severe multi-system anomalies as well as lesions more amenable to correlation in the neonatal period. Detection is particularly important in neonates with endocrine disorders, and complex genitourinary and anorectal malformations.

Sonographically detected abnormalities of the umbilical cord.

OBJECTIVES: This study was undertaken as a retrospective chart review to evaluate the range of umbilical cord abnormalities detected by prenatal sonography, as well as the outcome and pathologic correlation. METHODS: We identified 13 cases of umbilical cord abnormalities detected sonographically over a 46-month period. We evaluated the ultrasound appearance, size, location, and color Doppler characteristic in each case. RESULTS: There were 4 instances of clear cysts on the umbilical cord, 8 with complex masses, and 1 with complete, cystic encasement of the cord throughout its length. The pathology included vascular abnormalities (hemangioma, hematoma, varicosity), edema of the umbilical cord with pseudocysts, and syncytial knots. There was 1 known karyotypic abnormality (trisomy 13). Twelve of the 13 newborns survived; the neonatal death occurred in the fetus with trisomy 13. CONCLUSION: The presence of umbilical cord abnormalities may represent a variety of pathologic entities. Clinical outcome is usually favorable.

Closure of the cerebellar vermis: evaluation with second trimester US.

PURPOSE: To evaluate with sonography the normal development of the fetal cerebellum in the second trimester. MATERIALS AND METHODS: The study included all patients undergoing second trimester genetic amniocentesis who had structurally normal fetuses, in whom the posterior fossa was adequately seen and in whom the karyotype was later determined to be normal. Views of the cerebellum were obtained prospectively, and the inferior vermis was determined to be open or closed at the time of the initial scan. Follow-up was obtained by means of subsequent scans and review of the pediatric record. RESULTS: Of 897 fetuses that met the inclusion criteria, 147 had an open vermis at initial scanning. At 14 weeks gestation, 56% of fetuses had an open vermis, decreasing to 23% at 15 weeks and 6% at 17 weeks. In utero follow-up sonograms were obtained in 79% of fetuses with an initially open vermis and demonstrated closure in all but one fetus. The remaining 21%, without sonographic follow-up, were normal as newborns. CONCLUSION: The prenatal diagnosis of Dandy-Walker variant should not be made before 18 weeks gestation because the development of the cerebellar vermis may be incomplete at that time.

Solid masses on the fetal surface of the placenta: differential diagnosis and clinical outcome.

We identified 10 cases of solid masses on the fetal surface of the placenta prospectively that were thought to represent chorioangiomas. Pathologic assessment of the placenta revealed five chorioangiomas and five placental hemorrhages. The five chorioangiomas ranged in size from 4 to 10 cm and four of these five fetuses were delivered uneventfully at term. Only one fetus showed evidence of cardiac decompensation and did not survive. Three of the five women with placental bleeds delivered their infants between 33 and 34 weeks' gestation, but all five infants did well. This series shows that the sonographic appearance of chorioangioma was indistinguishable from placental hemorrhage, and even large chorioangiomas may be associated with good neonatal outcome.

Identification of second-trimester fetuses with autosomal trisomy by use of a sonographic scoring index.

PURPOSE: To evaluate the ability to identify fetuses with autosomal trisomy by use of sonographic features in the form of a scoring system. MATERIALS AND METHODS: The presence of nuchal thickening, long-bone shortness, pyelectasis, hyperechoic bowel, choroid plexus cyst, and major anatomic defects was prospectively evaluated in 60 trisomic fetuses aged 14-21 weeks and 106 second-trimester control fetuses. RESULTS: Forty-five fetuses had Down syndrome, 13 had trisomy 18, and two had trisomy 13. Based on previous criteria for short femur and humerus, pyelectasis, nuchal thickening, echogenic bowel, and choroid plexus cysts, a scoring system for detection of aneuploidy was developed. It enabled identification of 33 fetuses with Down syndrome (73%), 11 (85%) with trisomy 18, two (100%) with trisomy 13, and four control fetuses with abnormality (4%). The positive predictive value in patients in 1/250, 1/500, and 1/1,000 risk groups was 7.2%, 3.7%, and 1.9% for identification of a fetus with Down syndrome. CONCLUSION: These sonographic markers seem to be sensitive for the detection of chromosomal abnormalities.

Comparison between sonographic morphology and Doppler waveform for the diagnosis of ovarian malignancy.

OBJECTIVE: To assess the accuracy of pelvic sonography in distinguishing benign from malignant lesions in postmenopausal women, using morphologic criteria and Doppler flow characteristics. METHODS: All postmenopausal patients scanned from March 1992 to April 1993 with sonographically identified and pathologically confirmed adnexal masses formed the study group. The adnexal lesions were morphologically categorized prospectively as benign or malignant, and pulsed Doppler flow studies were measured using the lowest resistance index obtained from each mass. The sensitivity and specificity were determined for morphologic and Doppler flow assessments, as well as for a combination of these methods, for predicting the presence of malignancy. RESULTS: Thirty-three postmenopausal patients formed the study group; 12 lesions were malignant and 21 were benign pathologically. Using morphologic criteria alone, the sensitivity in detecting malignancy was 91% and specificity was 52%. Using pulsed Doppler alone with a resistance index limit of 0.6, the sensitivity in predicting malignancy was 66%, with a specificity of 81%. If a resistance index limit of 0.8 were used, the sensitivity and specificity would be the same as those for morphology alone. Combining morphology and resistance index, a single malignancy would still have been missed (sensitivity 91%). CONCLUSION: In our experience, Doppler flow studies did not add substantially to the prediction of malignancy using morphologic assessment alone.

Nuchal thickening or cystic hygromas in first- and early second-trimester fetuses: prognosis and outcome.

OBJECTIVE: To elucidate the relationship between nuchal abnormality, karyotype, and prognosis in fetuses with nuchal thickening or cystic hygroma observed between 10-15 weeks' gestation. METHODS: We reviewed all cases of fetal nuchal thickening (4 mm or greater) in 10-15-week fetuses over a 5-year period. Generalized hydrops and the presence of other anomalies were noted prospectively. We retrospectively measured the nuchal area and determined whether septations were present. Data consisted of karyotype, pathologic studies, and clinical follow-up of live-born infants. RESULTS: Of 100 consecutive fetuses, 29 were excluded because of pregnancy termination without karyotype or pathologic information. Of the remaining 71 fetuses, 63 had karyotyping. Abnormal karyotypes were found in 31 of 37 hydropic fetuses but in only 12 of 26 nonhydropic fetuses (P < .05). Fetuses with Turner syndrome had larger cystic hygromas than those with trisomy 18, trisomy 21, or normal karyotype (P < .05). There were ten normal live-born infants, none of whom was hydropic at the time of initial diagnosis and all of whom demonstrated spontaneous resolution of the nuchal thickening on subsequent sonograms. CONCLUSIONS: Fetuses with nuchal thickening or cystic hygromas demonstrated by ultrasound should have their karyotype determined. If the karyotype is normal and there are no hydrops or septations, the prognosis is good.

Isolated choroid plexus cysts in the second-trimester fetus: is amniocentesis really indicated?

Choroid plexus (CP) cysts have been associated with trisomy 18, although most fetuses with CP cysts are normal. Since many fetuses with trisomy 18 have other sonographic abnormalities, the necessity of obtaining a karyotype for all fetuses with isolated CP cysts remains controversial. The authors prospectively studied 234 second-trimester fetuses with sonographically discovered CP cysts. Two hundred twenty of them had no other sonographic findings. None of these 220 normal fetuses had evidence of aneuploidy at amniocentesis or an anomaly at birth. Fourteen fetuses had major anomalies detected in utero: 11 had trisomy 18, one had triploidy, and two had normal karyotypes but were structurally abnormal. While size and bilaterality of the CP cysts were not helpful in predicting aneuploidy, the meticulous anatomic survey of fetuses with CP cysts allowed successful identification of all aneuploid fetuses. These data show that the yield of abnormal karyotypes in fetuses with isolated CP cysts is low and may not justify the risk of amniocentesis.