A case report of sirolimus use in early fetal management of lymphatic malformation.

Sirolimus, by targeting the mammalian target of rapamycin (mTOR) pathway, has demonstrated efficacy on lymphatic malformations (LMs) in adults and neonates. The current hypothesis is that the earlier the lesion is treated, the better it responds. This has prompted the idea that sirolimus administration might be efficacious to treat fetal LMs as well.

Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a "de novo" gene partial deletion.

Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for  gene sequencing diagnostic for Wieacker-Wolff syndrome.

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.

Although the prognosis of CHARGE syndrome can be highly variable from mild until severe, final diagnosis is difficult to establish in utero. The aim of our study is to compare antenatal and postnatal findings in a retrospective cohort of 10 successive patients with a positive CHD7 gene variant in order to identify the specific prenatal features for CHARGE syndrome diagnosis. Fetal ultrasound, follow-up and supplementary investigations are collected and compared to postnatal findings.

Fetal umbilical-systemic shunt with a positive issue.

We herein report the case of abnormal umbilical-venous return in which the antenatal ultrasound enabled us to establish the diagnosis of umbilical-systemic shunt (Type 1 according to Achiron (Achiron and Kivilevitch, 2016)). Due to the concomitant associations of cardiomegaly, intrauterine growth retardation, oligohydramnios, and left-lobe hypoplasia with agenesis of the intrahepatic umbilical vein - left portal vein - ductus venosus, a poor prognosis (11.1% survival) was to be expected.

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

Antenatal diagnosis of cardio-facio-cutaneous syndrome: prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. This paper is a case study and review of literature. "RASopathies" is the term coined for a group of genetic diseases that share modulation inside the MAPKinase pathway.

Vanishing gastroschisis visualized by antenatal ultrasound: a case report and review of literature.

We report a case of vanishing gastroschisis visualized by antenatal ultrasound with a 7-year long term follow-up. Currently, the child is still dependent on daily parenteral nutrition with no signs of hepatotoxicity. To our knowledge, it's the fourth case with a long-term follow-up.

Successful management of a severe anti-M alloimmunization during pregnancy.

We report the successful outcome of a patient with anti-M antibodies with a previous history of severe hemolysis of erythrocytes. Serial plasma exchange from the first trimester combined with ultrasound monitoring of the fetal middle cerebral artery blood velocity was implemented. This management allowed a favorable pregnancy outcome of an infant born by an elective caesarean section at 32 weeks 6/7 with a normal Apgar score at 8/9/10.

Pregnancy and neonatal outcome following an antenatal diagnosis of cleft lip and palate.

Aim: To identify the significance of associated antenatal ultrasound findings on long-term prognosis following the antenatal diagnosis of cleft lip/palate [CL(P)].

Patients And Methods: Retrospective case note analysis of patients seen at a single tertiary referral centre with a diagnosis of CL(P). The patients were classified as those with unilateral or bilateral clefts and then further subdivided according to the presence of associated anomalies, and these were related to pregnancy and neonatal outcome.

Prenatal diagnosis of abnormal cardinal systemic venous return without other heart defects: a case series.

Objectives: To describe fetal spectrum and echocardiographic characteristics of anomalous systemic venous return (ASVR, cardinal veins) without other structural heart defects (isolated ASVR), evaluate associated extracardiac and genetic anomalies and review neonatal outcome.

Methods: From 2003 to 2009, 369 consecutive fetuses were diagnosed with cardiac malformation, including 27 cases with an isolated ASVR. The following variables were collected: type of ASVR, extracardiac anomalies, karyotype and short-term outcome.

Morphologic changes and methodological issues in the rabbit experimental model for diaphragmatic hernia.

Fetal lung development may be impaired by some congenital anomalies or in utero events. Animal models are used to understand the pathophysiology of these diseases and explore therapeutic strategies. Our group has an interest in the prenatal management of congenital diaphragmatic hernia (CDH).

Main bronchus occlusion for treatment of congenital diaphragmatic hernia in fetal lambs.

Purpose: The present study investigates a new surgical approach in the treatment of left diaphragmatic hernia in fetal sheep. We postulated that unlike tracheal occlusion where both lungs are occluded, selective left main bronchus occlusion (LMBO) would accelerate growth of only the left lung, reduce left visceral herniation, and recover space in the both thoraces necessary for lung development.

Methods: Left-sided congenital diaphragmatic hernia (CDH) was surgically created in 8 fetal lambs at approximately 65 days of gestation; in 4 of these animals, LMBO was performed at approximately 118 days.

Long-term outcomes in children treated by prenatal vesicoamniotic shunting for lower urinary tract obstruction.

Objective: Limited information is available about long-term outcomes in children treated prenatally for lower urinary tract obstruction. Our aim was to evaluate outcomes in children treated in utero with vesicoamniotic shunts.

Methods: Clinical outcomes in 20 pregnancies with a singleton male fetus, oligo/anhydramnios, and lower urinary tract obstruction were studied using chart review and phone and written clinical questionnaire for parents, pediatricians, and urologists.

Surfactant protein expression is increased in the ipsilateral but not contralateral lungs of fetal sheep with left-sided diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) impairs fetal lung growth and increases the density of alveolar epithelial type 2 (AE2) cells. There is controversy whether surfactant protein (SP) expression is altered in CDH. The primary aim of this study was to assess SP expression (mRNA and protein) in the left and right lungs of fetal sheep with and without a diaphragmatic hernia (DH).

Prenatally diagnosed giant omphaloceles: short- and long-term outcomes.

Objectives: To review prenatal findings, short- and long-term outcomes of giant omphaloceles (GO) managed at a single institution (1996-2001).

Methods: Prenatal findings and early postnatal outcomes were retrospectively reviewed. Clinical short- and long-term outcomes were analyzed in eight and five children respectively.

Pulmonary effects of gastroschisis in a fetal rabbit model.

Respiratory insufficiency is a significant cause of mortality and morbidity among infants with anterior abdominal wall defects (AWD). The aim of this study was to evaluate the pulmonary effects in a fetal rabbit model where gastroschisis was induced at midgestation. Gastroschisis (GAS) was created in 20 rabbit fetuses on day 22 or 23 of gestation (pseudoglandular phase; term = 31-32 days).