This meta-analysis was intended to evaluate differences in pregnancy rates after in-vitro fertilization (IVF) in tubal fertility with and without hydrosalpinx. It examined nine published retrospective comparative series and five series published as abstracts for which additional information was obtained. In all, these studies involved 5592 patients (1004 with hydrosalpinx and 4588 with tubal infertility without hydrosalpinx). The main outcome measures were rates of pregnancy, implantation, live delivery, and early pregnancy loss. Pregnancy rates were significantly lower in the presence of hydrosalpinx: 31.2% for the tubal sterility group without hydrosalpinx and 19.7% for the group with hydrosalpinx (odds ratio: 0.64; 95% confidence interval: 0.56, 0.74). Similarly, the implantation rate and the delivery rate per transfer in the hydrosalpinx group were only slightly more than half those of the non-hydrosalpinx group (implantation: 8.5 and 13.7%, respectively; delivery: 13.4 and 23.4%). The incidence of early pregnancy loss was also higher in the hydrosalpinx group (43.7%) than in the control group (31.1%). This meta-analysis makes it clear that hydrosalpinx present during IVF-embryo transfer has negative consequences on the rates of pregnancy, implantation, live delivery, and early pregnancy loss. It would be premature, nonetheless, to conclude that routine salpingectomy should be performed on all patients with hydrosalpinx.
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. Mutations in the OCRL1 gene have been associated with the disease. OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns[4,5]P2) 5-phosphatase. We have examined the OCRL1 gene in eight unrelated patients with OCRL and have found seven new mutations and one recurrent in-frame deletion. Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the protein. A missense mutation, R483G, was located in the highly conserved PtdIns(4,5)P2 5-phosphatase domain. Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six amino acids. Altogether, 70% of missense mutations are located in exon 15, and 52% of all mutations cluster in exons 11-15. We also identified two new microsatellite markers for the OCRL1 locus, and we detected a germline mosaicism in one family. This observation has direct implications for genetic counseling of Lowe syndrome families.
To our knowledge this is the first reported case of a subdural hematoma, related to fetal autoimmune thrombocytopenia, diagnosed prenatally by ultrasound. The underlying etiology was hidden maternal autoimmune thrombocytopenia. This disease, which is as serious as alloimmune thrombocytopenia, causes severe fetal thrombocytopenia, which carries with it a high risk of intracranial hemorrhage and recurrence in subsequent pregnancies. Only 14 cases of fetal subdural hematomas have been reported in the literature. The etiologies of these cases were principally traumatic, or due to disorders of hemostasis. Their prognoses were generally poor, with 50% resulting in fetal death in utero and the remaining 50% demonstrating post-natal sequelae. The presence of reverse flow in the middle cerebral artery is rare and its association with a subdural hematoma unusual. Abnormalities found on cerebral Doppler studies indicate an adaptive response to a fetal condition for which the prognosis is then very poor. Monitoring fetuses at risk for hemorrhage by ultrasound imaging and Doppler studies enables us to detect indicators of a worsening prognosis before the ultrasound appearance of morphological hemorrhage. The development of intracranial hemorrhage raises difficult management issues during the index pregnancy and in subsequent pregnancies.
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