Rhabdomyoma is the most common fetal cardiac tumor, and its development is related to tuberous sclerosis. Fetal cardiac rhabdomyomas often spontaneously regress in utero or after birth, but large tumors can cause hemodynamic obstruction. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used as an immunosuppressant after organ transplantation. The mTOR inhibitors are well-known to have anti-tumor activity, and they have been used for the treatment of patients with tuberous sclerosis. In the current case, fetal cardiac rhabdomyoma was completely resolved in utero during oral sirolimus treatment in the mother with tuberous sclerosis. This case shows that oral sirolimus therapy in pregnancy may be a treatment for multiple or large fetal cardiac rhabdomyomas.
Female ; Fetal Therapies ; Heart Neoplasms ; Hemodynamics ; Humans ; Mothers ; Organ Transplantation ; Parturition ; Pregnancy ; Pregnant Women ; Rhabdomyoma ; Sirolimus ; Transplants ; Tuberous Sclerosis

The ex utero intrapartum treatment (EXIT) procedure was introduced to reduce fetal hypoxic damage while establishing an airway in fetuses with upper and lower airway obstruction. Delivery of the fetal head and shoulders while maintaining the uteroplacental circulation offers time to secure the fetal airway. Here, we report two cases of EXIT procedure for fetal airway obstruction, which were successfully managed with extensive preoperative planning by a professional multidisciplinary team.
Airway Obstruction* ; Fetal Therapies ; Fetus* ; Head ; Laryngeal Diseases ; Lymphangioma ; Placental Circulation ; Prenatal Diagnosis ; Shoulder

: Fetal hydrops is a serious condition which can be caused by immune and non-immune aetiologies. We aimed to review the management of fetal hydrops at our hospital.: A retrospective review of all cases of fetal hydrops diagnosed in our institution from 2006 to 2013 was carried out.: Out of the 30 cases of fetal hydrops diagnosed antenatally, 17 were cases of Bart's hydrops which were all terminated in-utero. Of the remaining 13 cases, 11 cases consisted of non-immune causes of hydrops. Planned antenatal interventions including in-utero blood transfusions (n = 4) and thoracentesis (n = 5) as well as planned caesarean deliveries (n = 11) were performed in the majority of cases. Postnatal neonatal intensive care with interventions including chest drainage and transfusions were also performed. A majority, 92%, of the cases survived the perinatal period following a variable length of hospital stay ranging from a week to 3 months.: Management of fetal hydrops is complex. Close coordination between the obstetric and neonatal teams was the key to good short-term survival of neonates with antenatally diagnosed hydrops, as it allows timely antenatal intervention and anticipation of potential perinatal complications.
Abortion, Induced ; Blood Transfusion ; Cesarean Section ; Disease Management ; Drainage ; Female ; Fetal Therapies ; Hemoglobins, Abnormal ; Humans ; Hydrops Fetalis ; blood ; etiology ; therapy ; Infant, Newborn ; Intensive Care Units, Neonatal ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Singapore ; Survival Rate ; Tertiary Care Centers ; Thoracentesis ; alpha-Thalassemia ; blood ; complications

Prenatal intervention of severe fetal aortic valve stenosis by ultrasound-guided percutaneous balloon valvuloplasty has been performed to prevent the progression to hypoplastic left heart syndrome, and achieve biventricular circulation in neonates. Here we report a case of fetal aortic valvuloplasty prenatally diagnosed with aortic stenosis at 24 weeks of gestation and showed worsening features on a follow-up echocardiography. Prenatal aortic valvuloplasty was performed at 29 weeks of gestation, and was a technical success. However, fetal bradycardia sustained, and an emergency cesarean delivery was performed. To the best of our knowledge, this is the first reported case of fetal aortic valvuloplasty which was performed in Asia.
Aortic Valve Stenosis ; Asia* ; Balloon Valvuloplasty ; Bradycardia ; Echocardiography ; Emergencies ; Fetal Heart ; Fetal Therapies ; Follow-Up Studies ; Humans ; Hypoplastic Left Heart Syndrome ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis

During the past decades, there has been a great evolution in the field of fetal therapy for congenital defects. Prenatal screening or diagnostic methods including non-invasive and invasive methods and fetal ultrasound have led to earlier and more accurate diagnosis of congenital anomalies. Recent advances in several therapeutic techniques including ultrasound-guided needle therapy, laser therapy or fetal endoscopy, have allowed some fetuses at risk with anatomical defects, to be corrected in utero but still, its clinical indications remain limited. Over the last 30 years, many researchers found usefulness of pluripotent stem cells from amniotic fluid and placenta because they are sources of diverse progenitor cell populations called mesenchymal stem cells. In some human conditions like severe combined immunodeficiency syndrome and chronic granulomatous disease, fetal therapy using stem cell replacement showed some promising results in researches but more studies are required to apply in clinical settings. The aim of this article is to summarize a current status and future perspective of stem cell therapy for treatment of congenital fetal anomalies.
Amniotic Fluid ; Congenital Abnormalities ; Diagnosis ; Endoscopy ; Female ; Fetal Therapies* ; Fetus ; Granulomatous Disease, Chronic ; Humans ; Laser Therapy ; Mesenchymal Stromal Cells ; Needles ; Placenta ; Pluripotent Stem Cells ; Prenatal Diagnosis ; Severe Combined Immunodeficiency ; Stem Cells* ; Ultrasonography

OBJECTIVE: To report on our experiences with thoracoamniotic shunting and/or the injection of a sclerosing agent (OK-432) to treat fetuses diagnosed with macrocystic congenital cystic adenomatoid malformation (CCAM) of the lung. METHODS: A retrospective study was undertaken in six fetuses with macrocystic CCAM at our institute that had been confirmed by postnatal surgery between August 1999 and January 2012. RESULTS: Six fetuses that had been diagnosed with macrocystic CCAM were analyzed. The median gestational age at diagnosis was 23.5 weeks (range, 19.5-31.0 weeks), and at the time of primary treatment was 24.0 weeks (range, 20.5-31.0 weeks). The mean size of the largest cyst at the initial assessment was 42.5+/-15 mm. Four fetuses were associated with mediastinal shifting, and one also showed fetal hydrops. All fetuses underwent a shunting procedure within the cysts, one case among them was also treated with OK-432. After the completion of all procedures, the mean size of the largest cyst was all decreased (14.2+/-12 mm). The median gestational age at delivery was 38.0 weeks (range, 32.4-40.3 weeks). All of the newborns underwent the surgical resection at a median age of 6 days (range, 1-136 days) and are currently doing well without any complications. CONCLUSION: We suggest that intrauterine decompression therapy to manage fetal macrocystic CCAM is recommendable treatment for good perinatal outcome.
Cystic Adenomatoid Malformation of Lung, Congenital* ; Decompression ; Diagnosis ; Fetal Therapies ; Fetus ; Gestational Age ; Humans ; Hydrops Fetalis ; Infant, Newborn ; Lung* ; Picibanil ; Prenatal Diagnosis ; Retrospective Studies ; Sclerosing Solutions

Congenital cystic adenomatoid malformation (CCAM) is a rare condition which is easily detectable by prenatal ultrasonography. Fetuses with large CCAMs associating with hydrops are predisposed to perinatal mortality, therefore prenatal intervention is required. While macrocystic CCAM is treated prenatally by thoracentesis or thoraco-amniotic shunt, microcystic or mixed CCAM is difficult to manage in the fetus. In these latter lesions, fetal lobectomy, sclerotherapy, or laser ablation was used to treat lesions directly. We present an unusual prenatal case of mixed CCAM associating with hydrops and marked ascites, which was conservatively managed with prenatal abdomino-amniotic shunting and successfully treated by postnatal surgery.
Ascites ; Cystic Adenomatoid Malformation of Lung, Congenital* ; Edema ; Fetal Therapies ; Fetus ; Hydrops Fetalis ; Laser Therapy ; Perinatal Mortality ; Prenatal Diagnosis ; Sclerotherapy ; Ultrasonography, Prenatal

Advances in prenatal diagnosis have led to the prenatal management of a variety of congenital diseases. Fetal surgery was born of clinical necessity. Observations by pediatric surgeons and neonatologists of neonates that were born with irreversible organ damage led to the conclusion that one possible approach to prevent this alteration of developmental physiology, was fetal surgical intervention. The demonstration in animal models that the correction of an anatomical defect could reverse the associated pathophysiology led to the first systematic application of fetal surgery at the University of California, San Francisco, in the early 1980s . There has been a dramatic improvement in our ability to diagnose, select and safely operate on an expanding number of fetal anomalies. Many fetal interventions remain investigational but for a number of conditions randomized trials have established the role of in utero surgery, making fetal surgery a clinical reality in a number of fetal therapy programs. Although prenatal stem cell and gene therapy await clinical application, they offer tremendous potential for the treatment of many genetic disorders. Here we review the prenatal evaluation, current status and future potential of various prenatal operative approaches, such as open hysterotomy, fetoscopy, and percutaneous, including tissue engineering, and prenatal cellular and genetic therapy.
California ; Fetal Therapies ; Fetoscopy ; Genetic Therapy ; Humans ; Hysterotomy ; Infant, Newborn ; Models, Animal ; Prenatal Diagnosis ; San Francisco ; Stem Cells ; Tissue Engineering

OBJECTIVE: The aim of this study is to analyze the perinatal courses, fetal treatment and postnatal outcomes of fetal gastroschisis. METHODS: A retrospective review of the medical records of 35 cases with a prenatal diagnosis of gastroschisis was conducted between March 1997 and April 2007. RESULTS: Twenty-eight fetuses were followed up and 17 fetuses of them were born alive. Chromosomal study was performed in 22 fetuses and no abnormality was detected in them. Associated anomalies except for gastrointestinal anomalies were found in 12 (34.2%) cases: amniotic band syndrome (n=8), scoliosis (n=6), cleft lip (n=1), hydrops (n=1), hydrocephalus (n=1), acrania (n=1). In 4 fetuses, amnioinfusion and amnioexchange were performed simultaneously for treatment. Four cases (23.5%) were delivered by cesarean section. All neonates received corrected operation immediately after birth and 8 (47.1%) of them had postoperative complications. Three of them were died and the overall survival rate was 82.4%. The average length of hospital stays for the survivors was 36 days (2~210days). CONCLUSION: Fetal gastroschisis diagnosed prenatally has a good prognosis and high survival rates. The result of this study was not different from that of preexisting studies and will be a useful guide in counseling parents with a prenatal diagnosis of gastroschisis.
Amniotic Band Syndrome ; Cesarean Section ; Cleft Lip ; Counseling ; Edema ; Female ; Fetal Therapies ; Fetus ; Gastroschisis ; Humans ; Hydrocephalus ; Infant, Newborn ; Length of Stay ; Medical Records ; Neural Tube Defects ; Parents ; Parturition ; Perinatal Care ; Postoperative Complications ; Pregnancy ; Prenatal Diagnosis ; Prognosis ; Retrospective Studies ; Scoliosis ; Survival Rate ; Survivors

Fetal chylothorax is a rare congenital manifestation that shows variable clinical outcome ranging from complete spontaneous resolution to progression into hydrops or lung hypoplasia. There is no consensus in the literature as to the optimal antenatal management despite several complications such as preterm delivery, pulmonary hypoplasia, and perinatal death. Pleuroamniotic shunting has been the treatment of choice in fetal chylothorax. Recently, new fetal therapy such as OK-432 (Picibanil) pleurodesis is being introduced. Herein, we present two cases of women referred at early 2nd trimester because of fetal hydrothorax by routine ultrasonography. Cytology obtained by thoracocentesis revealed abundant lymphocytes, suggesting chylothorax. Effusion was aspirated and OK-432 (Picibanil) was injected into the pleural space of fetus. On follow up ultrasonography, the pleural effusion was nearly resolved by adhesion of the intrathoracic space and resulted in the delivery of a healthy neonate. Intrapleural OK-432 injection may be feasible therapeutic option for selected cases in early 2nd trimester with persistent chylothorax for effective control of pleural effusion with no adverse effects.
Chylothorax ; Consensus ; Edema ; Female ; Fetal Therapies ; Fetus ; Follow-Up Studies ; Humans ; Hydrothorax ; Infant, Newborn ; Lung ; Lymphocytes ; Picibanil ; Pleural Effusion ; Pleurodesis