Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother.

Terminal deletions of the chromosome 6q27 region are rare genomic abnormalities, linked to specific brain malformations and other neurological phenotypes. Reported cases have variable sized genomic deletions that harbor several genes including the DLL1 and TBP. We report on an inherited 0.38 Mb terminal deletion of chromosome 6q27 in a 22-week fetus with isolated bilateral ventriculomegaly and her affected mother using microarray-based comparative genomic hybridization and fluorescent in situ hybridization (FISH). The deleted region harbors at least seven genes including DLL1 and TBP. The affected mother had a history of hydrocephalus, developmental delay, and seizures commonly associated with DLL1 and TBP 6q27 deletions. This deletion is one of the smallest reported isolated 6q27 terminal deletions. Our data provides additional evidence that haploinsufficiency of the DLL1 and TBP genes may be sufficient to cause the ventriculomegaly, seizures, and developmental delays associated with terminal 6q27 deletions, indicating a plausible role in the abnormal development of the central nervous system.

Asymptomatic "placental prolapse" with cervical funneling in a patient with complete placenta previa.

We describe the transvaginal sonographic findings in a patient with complete placenta previa and increased risk of preterm birth owing to a prior history of mid-trimester pregnancy loss in whom we observed a short cervix and prolapse of the placenta and fetal membranes into the endocervical canal. We believe that this could lead to antepartum hemorrhage and mandate close observation when diagnosed. We introduced the term "placental prolapse" to describe our finding.

The clinical relevance of fetal MRI in the diagnosis of Type IV cystic sacrococcygeal teratoma--a review.

The introduction of fetal magnetic resonance imaging (MRI) has improved the prenatal evaluation of uterine, placental and fetal anatomy. However, its utilization has mostly been restricted to fetal central nervous system anomalies. We review how adjunct fetal MRI was performed and diagnosis of cystic type IV sacrococcygeal teratoma was made. We also discuss the clinical relevance of fetal MRI in differentiating this lesion from other selected abdominal/pelvic cystic malformations and lesions.

von Hippel-Lindau disease and pregnancy: what an obstetrician should know.

BACKGROUND: von Hippel-Lindau disease is an autosomal dominant genetic disorder that presents with a variable constellation of symptoms and signs due to formation of hemangioblastomas and cysts. We address the management of pregnancies associated with this disorder from an obstetric perspective. CASE: A 26-year-old known to have type 2A von Hippel-Lindau disease with a significant surgical history secondary to disease manifestations was managed from early pregnancy to delivery. A literature review to determine the best evidence-based care from an obstetric perspective, addressing patient management preconceptionally, in the antepartum period (including antepartum surgical care), during labor and delivery (including type of analgesia/anesthesia,mode of delivery), and the postpartum period, as well as contraception, was performed. CONCLUSIONS: A pregnant woman with von Hippel-Lindau disease should be managed in conjunction with a multidisciplinary team. Routine clinical and radiological imaging should be continued within safe parameters of pregnancy. Mode of delivery, analgesia/anesthesia, and postpartum care (including birth control) should be determined based on each patient's disease phenotype and individual risk-to-benefit ratio on a case-by-case basis.