Perinatal outcomes and factors affecting the survival rate of fetuses with twin-to-twin transfusion syndrome treated with fetoscopic laser coagulation: a single-center seven-year experience.

OBJECTIVES: This single-center study aimed to assess the perinatal outcomes and its associated factors in fetuses with twin-to-twin transfusion syndrome (TTTS) treated by fetoscopic laser coagulation (FLC). METHODS: In this retrospective study, we included fetuses prenatally diagnosed with TTTS at Asan Medical Center, Seoul, Korea, between October 2011 and December 2018. All patients with TTTS stage II or higher and those with stage I TTTS coupled with symptomatic polyhydramnios or cardiac dysfunction were eligible for FLC. RESULTS: A total of 172 cases of monochorionic diamniotic twins and one case of dichorionic triamniotic triplets were prenatally diagnosed with TTTS and treated with FLC. The median gestational ages (GAs) at diagnosis and FLC were 20.3 and 20.5 weeks, respectively. The median GA of survivors at delivery was 32.5 weeks. The overall at least one twin- and double-survival rates within 28 days after birth were 82.1% and 55.5%, respectively. The GAs at diagnosis and FLC, Quintero stage, inter-twin weight discordance, associated selective intrauterine growth restriction (sIUGR), procedure time, volume of amnioreduction, preterm prelabor rupture of membranes (PPROM) within one week after FLC, intraoperative intrauterine bleeding, and chorioamnionitis were significant predictive factors of perinatal death. Associated sIUGR, absent end-diastolic flow of umbilical artery, and abnormal cord insertion were significantly associated with donor demise in utero, whereas lower GA at diagnosis and FLC, smaller twins at FLC, pulsatile umbilical vein, and presence of mitral regurgitation were significantly associated with recipient demise in utero. Since the application of the Solomon technique, the survival rate has improved from 75.4% to 88.8%. The FLC before 17 weeks was associated with PPROM within one week after FLC and lower survival rate, whereas that after 24 weeks was associated with twin anemia-polycythemia sequence and higher survival rate. We reached a survival rate of 82% for at least one survival with only 12 procedures. CONCLUSIONS: FLC is an effective treatment for TTTS. The learning curve reached the acceptable target faster than in previous studies. Several prenatal parameters are identified as predictive factors of fetal survival in TTTS treated with FLC.

Feasibility of fetal left modified myocardial performance index in twin anemia polycythemia sequence and perinatal outcomes after antenatal intervention.

OBJECTIVE: To evaluate the feasibility and clinical value of fetal left modified myocardial performance index (Mod-MPI) in assessment and management of prenatal twin anemia polycythemia sequence (TAPS). METHODS: We retrospectively reviewed fetuses with TAPS diagnosed prenatally between 2015 and 2019 at Asan Medical Center. Doppler ultrasound evaluation including the peak systolic velocity (PSV) of the middle cerebral artery (MCA) and fetal echocardiography including left Mod-MPI were evaluated and followed up after antenatal management. RESULTS: Among 10 cases of fetal twin pregnancies with prenatal TAPS, six were spontaneous and four were post-laser TAPS. Left Mod-MPI was abnormal in one or both twins of nine cases (90%) including all post-laser TAPS (n = 4) and 83.3% of spontaneous TAPS (n = 5). Three recipients, one donor and three former recipients/new donors had elevated left Mod-MPI values, and one donor, one recipient, two former donors/new recipients had decreased values. Antenatal intervention was performed in eight cases with intrauterine transfusion (n = 4), fetoscopic laser surgery (n = 2), radiofrequency ablation (n = 1), and intrauterine transfusion followed by radiofrequency ablation (n = 1). The remaining two cases were either delivered or managed expectantly. MCA-PSV and left Mod-MPI became normal on the follow-up scans in all cases except the delivered case. There were four fetal deaths: two occurred spontaneously and two were selectively terminated by radiofrequency ablation. Overall perinatal survival per fetus was 80% (16/20) and the median gestational age at delivery was 34.4 (range, 29.2-37.4) weeks. Neither postnatal death nor neurodevelopmental delay occurred during a median follow-up of 13 months (range, 0.25-60 months). CONCLUSION: Fetal left Mod-MPI was useful for assessment of compromised fetal cardiac function in cases with prenatal TAPS. Application of fetal left Mod-MPI in prenatal staging of TAPS might help evaluate the severity of TAPS and decide timely antenatal intervention.

Comparison of the Prognostic Factors of Fetuses With Congenital Pulmonary Airway Malformations According to Type.

OBJECTIVES: To compare the prognostic factors of fetuses with microcystic and macrocystic congenital pulmonary airway malformations (CPAMs). METHODS: We retrospectively evaluated fetuses with CPAMs at Asan Medical Center. The CPAM size, mass effect, and maximum cyst size in macrocystic CPAMs were evaluated prenatally. The adverse postnatal outcomes, including respiratory symptoms, mechanical ventilation, and surgery, were evaluated. RESULTS: In 118 cases, 2 fetal deaths and 1 neonatal death occurred. All cases of fetal hydrops and complete regression after birth were in the macrocystic and microcystic CPAM groups, respectively. Twenty-four neonates (20.7%) had respiratory symptoms, and 18 (15.5%) required mechanical ventilation. Sixty-three neonates (54.3%) underwent surgery, of whom 21 (33.3%) required surgery in the neonatal period. The maximum congenital pulmonary airway malformation volume ratio was significantly associated with all postnatal outcomes (P < .05), and the optimal cutoff values were lower for respiratory symptoms, mechanical ventilation, and neonatal surgery in the macrocystic CPAMs. The maximum cyst size was also associated with all postnatal outcomes in macrocystic CPAMs (P < .05). CONCLUSIONS: Different cutoff values for the maximum congenital pulmonary airway malformation volume ratio should be applied according to the CPAM type for the prediction of postnatal outcomes. The maximum cyst size can also be a useful prognostic factor in macrocystic CPAMs.

Clinical value of chromosomal microarray analysis in prenatally diagnosed dextro-transposition of the great arteries.

Objectives: To evaluate the usefulness of chromosomal microarray analysis (CMA) in fetuses with dextro-transposition of the great arteries (d-TGA).Methods: Thirty-two fetuses with d-TGA were examined for submicroscopic copy number variations (CNVs) using CMA.Results: Among the 32 d-TGA fetuses, 23 had isolated lesions (71.9%) and nine had other cardiac or extracardiac anomalies (28.1%). CNVs were detected in 16/32 (50%) of the fetuses, including benign CNVs detected in nine fetuses (28.1%), pathogenic CNVs detected in three fetuses (9.4%), and variants of unknown significance (VOUS) detected in four fetuses (12.5%). There was no significant difference in the detection rates of pathogenic CNVs between the isolated and nonisolated groups. All four VOUS were found in the nonisolated group.Conclusion: CMA might be an effective tool for identifying submicroscopic chromosomal aberrations in fetuses with d-TGA.

Perinatal Outcomes of Fetal Lower Urinary Tract Obstruction After Vesicoamniotic Shunting Using a Double-Basket Catheter.

OBJECTIVES: To evaluate the perinatal survival and renal function of fetuses with lower urinary tract obstruction (LUTO) who underwent vesicoamniotic shunting using a double-basket catheter METHODS: We retrospectively reviewed 32 fetuses with LUTO who underwent vesicoamniotic shunting using a double-basket catheter between 1998 and 2013. RESULTS: Among the 32 fetuses examined, 5 died because of termination of pregnancy, and 2 died in utero. The median gestational age at diagnosis was 15.5 (range, 10.0-27.3) weeks, and that at initial shunting was 17.1 (range, 12.3-32.2) weeks. Shunt dislocation or occlusion occurred in 18 of 42 procedures (42.8%). The median gestational age at delivery for the 25 live births was 35.5 (range, 28-40) weeks. Postnatal diagnosis revealed posterior urethral valves in 15 fetuses, a cloacal anomaly in 7, and urethral stenosis in 3. Three neonatal deaths occurred, resulting in an overall perinatal survival rate of 68.8% (22 of 32). The rates of normal renal function were 40.6% (13 of 32) at 28 days and 40% (10 of 25) at 2 years after birth. The absence of oligohydramnios after shunting was the only prognostic factor for normal renal function at 2 years (P < .05). CONCLUSIONS: Vesicoamniotic shunting may be helpful for fetuses with LUTO.

A case of prenatally diagnosed extrapulmonary arteriovenous malformation associated with a complex heart defect.

Pulmonary arteriovenous malformations are rare vascular anomalies of the lung, only a few cases of which have been diagnosed prenatally. The diagnostic clue for prenatal diagnosis was cardiomegaly with a particularly enlarged left atrium. All previous cases of pulmonary arteriovenous malformations diagnosed prenatally have been reported as an isolated anomaly or in association with simple heart defects. We here describe the first case of a pulmonary arteriovenous malformation with a complex heart defect that was diagnosed prenatally at 21.0 weeks of gestation and confirmed by postmortem autopsy.

Impaction of an intrathoracic kidney acted as a shield against herniation of the abdominal viscera in a case of right congenital diaphragmatic hernia.

We describe a case of an intrathoracic kidney combined with right congenital diaphragmatic hernia (CDH) that was diagnosed at 32 weeks of gestation. Although it has been well established that a right CDH shows a poorer outcome than a left CDH, our present case showed a good outcome because there was no herniation of other abdominal viscera, except for the right kidney. Our findings in this case indicate that impaction of the intrathoracic kidney may act as a 'shield' against further herniation of other abdominal viscera into the thoracic cavity.

Unusual prenatal sonographic findings without an elevated maternal serum alpha-fetoprotein level in a fetus with epidermolysis bullosa.

A 31-year-old pregnant woman was referred to us at 34.6 weeks' menstrual age for sonographic evaluation of a fetal left lower limb abnormality. Sonographic findings revealed shortening of the left tibia and dorsal hyperflexion of the left foot. There was no family history of genetic disease, and the maternal serum alpha-fetoprotein concentration was normal. A male infant was born with extensive skin peeling, mainly on his left leg, associated with muscular dystrophy. Epidermolysis bullosa was confirmed on a skin biopsy; the neonate died 53 days after birth as a result of severe sepsis. Although cutaneous epidermolysis bullosa is difficult to diagnose prenatally, shortening and deformity of extremities may provide a clue to the diagnosis, even when the maternal alpha-fetoprotein concentration is normal. © 2015 Wiley Periodicals, Inc. J Clin Ultrasound 44:319-321, 2016.

Perinatal outcomes of fetal pleural effusion following thoracoamniotic shunting.

OBJECTIVE: The aim is to evaluate perinatal outcomes of fetal pleural effusion after thoracoamniotic shunting. METHODS: This was a retrospective study of 68 singleton pregnancies with massive fetal pleural effusion that underwent thoracoamniotic shunting between 1999 and 2012 at Asan Medical Center, Seoul, Korea. Through a review of medical records, we investigated perinatal outcomes according to the presence of fetal hydrops and identified prognostic factors by stepwise multivariate logistic regression analysis. RESULTS: Of the 68 pregnancies, three were lost to follow-up and two fetuses died in utero. The median gestational age at shunting was 28.3 weeks (range, 18.5-34.1 weeks). Of the 65 fetuses, 50 (76.9%) were hydropic, of which hydrops resolved following shunting in 29 fetuses (58.0%). Among the 63 live births, the median gestational age at delivery was 33.6 weeks (range, 26.2-40.0 weeks), with 36 fetuses (57.1%) delivered preterm. The overall survival rate was 75.4% (49/65), and in a subgroup analysis, the survival rate was highest for non-hydropic fetuses (14/15, 93.3%), followed by fetuses whose hydrops resolved (25/29, 86.2%) and remained after shunting (10/21, 47.6%). CONCLUSION: Thoracoamniotic shunting can be helpful for fetuses with massive pleural effusion. While fetal hydrops can occur in such cases, perinatal outcomes can be improved by successful shunting.

Measurement of intracranial translucency using three-dimensional ultrasound and Volume IT™.

OBJECTIVES: To establish the reference range of intracranial translucency (IT) in the Korean population, and to evaluate whether Volume IT™ is a reliable technique for measuring IT. METHODS: We retrospectively analyzed the IT of 93 singleton fetuses at 10.5 to 12.6 weeks of gestation using previously obtained three-dimensional volume data. The IT was measured manually and automatically using Volume IT™ in each fetus by one experienced and one beginner operator. We measured the IT values according to the crown-rump length and evaluated whether Volume IT™ can successfully measure the IT. Inter-observer agreement and intra-observer reproducibility were analyzed using the intraclass correlation coefficients (ICC), and the IT measurements obtained by the experienced operator using the manual and automated methods were then compared using the Bland-Altman plot and ICC. RESULTS: Among 93 cases, 2 were lost to follow-up after the first trimester scan and were excluded from further evaluation. Both operators identified the fourth ventricle in all 91 cases using Volume IT™. The experienced and beginner operators were able to measure the IT in 89 (98%) fetuses, with 4 and 13, respectively, requiring adjustments. The IT values increased with gestational age (correlation coefficient, r=0.491, P <0.0001). Inter-operator agreement was moderate (ICC=0.580 for automated and 0.546 for manual measurements), and intra-operator reproducibility was highest for automated measurements by the experienced operator (ICC=0.944). Agreement of the IT values between the manual and automated methods was high (ICC=0.950). CONCLUSIONS: Our results provide the reference range of IT in the Korean population. The Volume IT™ may be a reliable technique for measuring IT.