To demonstrate the postnatal investigation, treatment and outcome of infants with hydronephrosis prenatally diagnosed by ultrasound between 1994 and 1996.In a two-year period we studied 20 infants who presented with hydronephrosis diagnosed by prenatal ultrasound and confirmed by postnatal ultrasound. Unilateral hydronephrosis was diagnosed in 17 infants and bilateral hydronephrosis in 3. An anteroposterior renal pelvic diameter > 7 mm after 33 weeks of pregnancy was used to predict abnormal outcomes. In the postnatal follow-up period, the infants were followed with sequential ultrasound and urinalysis. 99mTc-diethylene triamine pentaacetic acid scan, intravenous pyelography and voiding cystourethrography were performed in selected cases. Pyeloplasty was performed only if there was evidence of renal compromise.A male predilection was found. The left kidney was more commonly involved. Ultrasonic follow-up of the 20 infants showed that hydronephrosis resolved in 9, who were all in the unilateral hydronephrosis group. The range of fetal renal pelves on prenatal ultrasound was 7-15 mm in the resolution group. Pyeloplasty was performed in three unilateral hydronephrosis infants. Follow-up ranged from 36 to 72 months.When the fetal renal pelvis was < 15 mm on prenatal ultrasound, it never progressed. Prenatally diagnosed hydronephrosis may be safely observed, and surgical correction should be performed only if renal compromise occurs.
The aim of this study was to evaluate the effect of gestational age (GA) at the time of fetoscopic laser photocoagulation (FLP) for severe twin-twin transfusion syndrome (TTTS) on perinatal outcomes in a single center in Taiwan.Severe TTTS was defined as a diagnosis of TTTS before a GA of 26 weeks. Consecutive cases of severe TTTS treated at our hospital with FLP between October 2005 and September 2022 were included. The evaluated perinatal outcomes were preterm premature rupture of membranes (PPROM) within 21 days of FLP, survival 28 days after delivery, GA at delivery, and neonatal brain sonographic imaging findings within 1 month of delivery.We included 197 severe TTTS cases; the mean GA at the time of FLP was 20.6 weeks. After the cases were divided into cases of FLP at early (below 20 weeks) and late GAs (more than 20 weeks), the early-GA group was discovered to be associated with a deeper maximum vertical pocket in the recipient twin, a higher rate of PPROM development within 21 days of FLP, and lower rates of survival of one or both twins. In the cases of stage I TTTS, the rate of PPROM within 21 days of FLP was higher in the group that underwent FLP at an early GA than in the group that underwent FLP at a late GA (50% (3/6) vs. 0% (0/24), respectively, p = 0.005). Logistic regression analysis revealed that the GA at the time of FLP and the cervical length before FLP is implemented are significantly associated with the survival of one twin and the incidence of PPROM development within 21 days of FLP. The GA at the time of FLP, the cervical length before FLP, and TTTS being stage III TTTS were associated with the survival of both twins after FLP. Neonatal brain image anomalies were associated with GA at delivery.FLP being performed at an earlier GA is a risk factor for lower fetal survival and PPROM development within 21 days of FLP in cases of severe TTTS. Delaying FLP for cases involving stage I TTTS diagnosed at an early GA without risk factors, such as maternal symptoms, cardiac overload in the recipient twin, or a short cervical length, may be considered, but whether delaying FLP would improve surgical outcomes and, if so, how long the delay should be may need further trials to answer.
<i>Objective:</i> To demonstrate the equipment setup and the application of monopolar thermocoagulation in the management of acardiac twins. <i>Methods:</i> We described 2 cases of acardiac acephalus twins who developed congestive heart failure and polyhydramnios at 20 weeks of gestation. A monopolar wire electrode was inserted through a 14-gauge trocar under ultrasound guidance. The inter-twin circulation was interrupted and confirmed by color Doppler flow examination. <i>Results:</i> Case 1 was detected at 20 weeks of gestation with progression to early signs of fetal congestive heart failure at 22 weeks. This case had smooth operative procedure and delivered a healthy infant at 32 weeks. Case 2 was referred at 24 weeks of gestation with marked fetal congestive heart failure. Although thermocoagulation cessed the inter-twin perfusion, the fetus died in utero 12 h later with persistent irreversible circulatory compensation. <i>Conclusion:</i> Monopolar thermocoagulation was an effective and generally available alternative technique to fetal endoscopic surgery for the interruption of vascular communication between acardiac twins.
Lynch syndrome (LS) is a hereditary cancer predisposition syndrome with a significantly increased risk of colorectal and endometrial cancers. Current standard practice involves universal screening for LS in patients with newly diagnosed colorectal or endometrial cancer using a multi-step screening protocol (MSP). However, MSP may not always accurately identify LS cases. To address this limitation, we compared the diagnostic performance of immediate germline sequencing (IGS) with MSP in a high-risk group.
Congenital megalourethra is a rare prenatal finding while prenatal diagnosis of imperforate anus poses high challenge. This is the first prenatally ultrasound diagnosed case which had congenital megalourethra and imperforate anus. This case demonstrated the possibility of using the prenatal imaging findings to evaluate the postnatal prognostic outcomes in multi-organ anomalies. We present a case of congenital megalourethra, diagnosed prenatally at 22 weeks’ gestation, in which the penis appeared severe dilated with complete absence of the corpora spongiosa and cavernosa. This case also revealed absence of perianal muscle which was in associated with imperforate anus. Detailed prenatal ultrasonographic findings predicted the high possibility of poor outcome of the fetus in the pulmonary, renal, and sexual functions. This case serves to identify not only the marked bilateral hydronephrosis features but also the striking lower urethral malformation with obstruction flow effect of the penis. Indeed we believe this is the first case report of a rare case of fetal megalourethra associated with imperforate anus at early second trimester on ultrasonography imaging.
To evaluate the outcome of twin–twin transfusion syndrome (TTTS) treated by fetoscopic laser therapy (FLT) stratified by Quintero staging. A total of 100 TTTS cases treated by FLT, from October 2005 to August 2014, were included in this study. Cases were divided into first and second half periods to evaluate the learning effect-related outcomes, and logistic regression was applied to determine the independent factors in predicting the perinatal outcomes. The total fetal survival rate was 68.5%, two fetal survival rate was 55%, and at least one fetal survival rate was 82%. High Quintero stage (Stages III and IV) and small gestational age at delivery were two independent factors predicting lower two fetal survivals. Gestational age at delivery was the only independent factor predicting at least one survival. The odds ratios of high Quintero stage predicting lower two fetal survivals were 11.3 (p < 0.001) and 4.8 (p = 0.043) in the first and second periods, respectively. High Quintero stage and small gestational age at delivery were associated with low two survival rate in TTTS treated by FLT; after gaining experience with FLT, the effect of high Quintero stage on lower two survival rate would decrease.
To test the hypothesis that human amniotic fluid mesenchymal stem cells contain a unique epigenetic signature in imprinting centers of H19, SNRPN, and KCNQ1OT1 during in vitro cell culture.By bisulfite genomic sequencing, we analyzed the imprinting centers of three imprinted genes (including H19, SNRPN, and KCNQ1OT/) in a total of six single-cell clones of human amniotic fluid mesenchymal stem cells at cell passages 7, 8, 9, and 10 during in vitro cell culture.The imprinting centers of H19 and KCNQ1OT1 showed hypermethylation at passage 7 in all single-cell clones of human amniotic fluid mesenchymal stem cells, and there was no significant change in DNA methylation patterns during in vitro cell culture. The imprinting centers of SNRPN showed variable methylation patterns at passage 7 in six single-cell clones, and DNA methylation patterns varied during in vitro cell culture from passages 8 to 10.In conclusion, human amniotic fluid mesenchymal stem cells contain a unique epigenetic signature during in vitro cell culture. H19 and KCNQ1OT1 possessed a substantial degree of hypermethylation status, and variable DNA methylation patterns of SNRPN was observed during in vitro cell culture of human amniotic fluid mesenchymal stem cells. Our results urge further understanding of epigenetic status of human amniotic fluid mesenchymal stem cells before it is applied in cell replacement therapy.
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