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Background: Toxoplasmosis is a parasitic infection caused by Toxoplasma gondii and is responsible for gestational and congenital infections worldwide. The current standard therapy is based on the administration of Spiramycin to prevent trans‐placental transmission. Other therapies are being studied to reduce the rates of foetal transmission and symptomatic congenital infection. Objectives: We report our long‐standing experience in maternal toxoplasmosis infection treatment using a combination of Spiramycin–Cotrimoxazole, assessing its effectiveness in preventing vertical transmission compared to the expected incidence of congenital infection. Methods: We retrospectively collected cases of pregnant women referred to our centre for suspected toxoplasmosis infection according to Lebech criteria, treated with Spiramycin–Cotrimoxazole. Results: Of 1364 women referred to our centre, postnatal follow‐up of primary toxoplasmosis was available in 562 cases (73.9%). The overall vertical transmission rate was 3.4% in women treated immediately with Spiramycin–Cotrimoxazole after the diagnosis of infection. In comparison, it was 7.7% in women undergoing the same therapy but late or with poor compliance. The foetal transmission rate was 71.4% in untreated cases. All the infected newborns of mother treated adequately with Spiramycin–Cotrimoxazole were asymptomatic afterbirth, while 6/21 infected infants of the inadequate Spiramycin–Cotrimoxazole therapy group had postnatal sequelae (28.5%). The incidence of transmission after appropriate Spiramycin–Cotrimoxazole therapy was significantly lower than the expected rate reported in literature. Conclusions: A combination of Spiramycin and Cotrimoxazole is safe and effective in preventing foetal congenital toxoplasmosis and reducing sequelae in case of in‐utero infection. The timing and adherence to the therapy are crucial to lowering the risk of congenital infection and neonatal morbidity. [ABSTRACT FROM AUTHOR]

Background: The objective of this study is to examine the hypothesis that cystic hygroma (CH) with normal karyotype can manifest as a Mendelian inherited trait, and that a genetic similitude with hereditary lymphedema exists. To reach this goal, we investigated the prevalence of genetic variants in angiogenesis and lymphangiogenesis genes in a cohort of euploid fetuses with CH that almost resolved before delivery. A short review of cases from literature is also reported. Methods and Results: Five fetuses were screened using a next-generation sequencing approach by targeting 33 genes known to be associated with vascular and lymphatic malformations. The genetic evaluation revealed two novel variants in KDR and KRIT1 genes. Conclusion: A review of the literature to date revealed that an association exists between CH and hereditary lymphedema and, similar to lymphedema, CH can be inherited in autosomal recessive and autosomal dominant manner, with the latter most likely associated with a better prognosis. About KDR and KRIT1 genes, no other similar associations are reported in the literature and caution is needed in their interpretation. In conclusion, we thought that a genetic test for the outcome of familial CH could be of enormous prognostic value. [ABSTRACT FROM AUTHOR]

The ultrasonographic detection of renal anomalies may modify obstetric management and facilitate pediatric care of the newborn. We performed prenatal differential diagnosis of an isolated unilateral cystic renal mass (71 × 74 × 82 mm) in a pregnant woman at 26 weeks of gestation. No other abnormalities were detected by ultrasonography, except for polyhydramnios. Repeated percutaneous cyst aspirations were required because of the increasing risk of vital organ damage. Postnatal nephroureterectomy was performed. Anatomopathologic analysis led to the diagnosis of segmental renal dysplasia, which could not be included in any of the four groups of Potter's classification of cystic renal dysplasia. [ABSTRACT FROM AUTHOR]

Objective. To show the validity of prenatal invasive surgical intervention when a fetal ovarian cyst is diagnosed, compared to a wait and see attitude, in order to avoid possible prenatal and postnatal complications. Patients. Fourteen cases of intra-abdominal cysts monitored in our center between April 2005 and November 2010. All cases were first diagnosed in the third trimester, and were monitored for the remainder of the pregnancy and after delivery (2 months-3 years postnatally). Surgical intervention. Upon maternal and fetal cutaneous anesthesia performed trans-amniotically, the cystic fluid (mean contents 43.85 cc, DS 46.27) was extracted for cytological, biochemical, and hormonal examination. Results. Thirteen cases of intra-abdominal cysts (92.8%%) were fetal ovarian cysts. Ninety-two percent of pregnancies bearing such a condition were successfully concluded ( n == 12). Sixty-nine percent concluded in vaginal delivery ( n == 9). None experienced maternal and/or fetal complications. Every drained cyst had an estradiol concentration higher than 10,000 pg/ml. Conclusions. The aspiration of ovarian cysts exceeding a 40 mm diameter, performed as early as possible, allows a good longitudinal treatment of this fetal affection, thus avoiding torsion, tissue necrosis, and invasive postnatal surgery, as well as giving hope of future gestational capability to the fetus/newborn. [ABSTRACT FROM AUTHOR]

We evaluated the possibility of prolonged chimerism formation in fetus and lamb, following human cord blood-selected CD133+ hemopoietic stem cell (HSC) transplantation into the celomic cavity of ewes at a pre-immune fetal age (44-45 days of pregnancy). Nineteen ewes were injected with HSC and 5 controls with a saline solution. By PCR, HLA-DQα1 and 6 human microsatellites (CODIS) were used for HSC traceability. FISH analysis was performed with 8 human DNA probes from different chromosomes, to confirm chromosomal integrity, nuclear DNA localization and donor DNA identification. Immunological staining for revealing HLA-DQα1 expression demonstrated multilineage engraftment. Both HLA-DQα1 and microsatellites were detected in different tissues of 3 available aborted fetuses, to a lesser extent in 11 lambs tested at 2-months, but not 12-months after birth. Although only 1 fetus of siblings of each sheep was injected, all siblings revealed positive engraftments. Microsatellite analysis showed evidence of human allele segregation in different tissues of individual fetuses and lambs, FISH analysis confirmed chimerism end the presence of human chromosomes. Non-detection of some human gene sequences in different chromosomes and random finding of allele segregation for some human heterozygous microsatellites were found in different tissues of individual animals. Controls born from un-transplanted ewes never revealed any human DNA sequences nor HLA-DQα1 expression. [ABSTRACT FROM AUTHOR]

Preterm labor is one of the most important factors limiting the advancement of fetal surgery programs. While prostaglandins (PGs) have long been indicated as the key factor in the initiation of labor in humans, there is significant evidence showing that the chorionic membrane acts as a powerful barrier between the decidua/myometrium and amniotic PGs during normal pregnancy. After either open or endoscopic fetal surgery the imperfect, non-hermetical closure of the chorion permits leakage of PGs from the amnionic sac, allowing them to reach the decidua and myometrium. The surgical wound in the chorionic barrier could be the major factor involved in preterm labor and delivery after human fetal surgery. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]