Partial Cervical Agenesis and Complete Vaginal Atresia.

BACKGROUND: The objective of this study was to report 2 cases of the combined congenital anomalies of complete vaginal atresia and partial cervical agenesis, and highlight the limitations of magnetic resonance imaging for definitive initial diagnosis, and consequently the importance of early definitive management, to avoid life-threatening sepsis. Herein we provide a retrospective case audit of two patients with congenital abnormalities between 2005 and 2013 who were treated in a quaternary statewide pediatric and adolescent gynecology center. CASES: Two patients with the combined congenital anomalies of complete vaginal agenesis and partial cervical agenesis highlight the difficulties encountered with the limitations of magnetic resonance imaging in accuracy of diagnosis, as well as development of life-threatening sepsis that requires hysterectomy. Both patients were initially imaged as having distended endometrial cavities and cervical canals with what was thought to be an obstructive upper vaginal septum and absent lower vagina. Both required initial neovagina creation, however the cervices were never clinically or surgically visualized. SUMMARY AND CONCLUSION: Partial cervical agenesis is a relatively rare form of Müllerian abnormality which, if not diagnosed and definitively treated early, can have significant morbidity and mortality. Although magnetic resonance imaging is the diagnostic imaging gold standard for Müllerian abnormalities, it is important to recognize the limitations of this modality, the potential sequelae of these limitations, and to appreciate the importance of early accurate diagnosis and treatment of this condition. Importantly, if the imaging diagnosis does not completely correlate with the clinical and surgical findings, then a high suspicion of complete or partial cervical agenesis is prudent, because the consequences of nondefinitive early treatment can be life-threatening and potentially fatal.

Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, Australia.

OBJECTIVE: Prenatal diagnosis of a chromosomal abnormality currently involves the use of an invasive procedure, which has a risk of fetal loss. The aim of this study was to identify whether pregnancies conceived via assisted reproductive technologies were more or less likely to be subjected to an invasive procedure compared with pregnancies that were conceived spontaneously. METHOD: Population data were collated from three private ultrasound clinics across southeast Queensland, Australia. RESULTS: Of the 15,032 spontaneously conceived pregnancies, 775 (5.2%) had invasive testing, while 95 (6.0%) of the 1581 pregnancies conceived through assisted reproductive technologies had invasive testing. When the uptake of testing is adjusted by the maternal age the assisted reproductive population was significantly less likely to pursue invasive testing (p = 0.003). Similarly when adjusted for the combined first trimester screen risk estimate, the assisted reproduction population is significantly less likely to undergo invasive testing than the spontaneous population (p = 0.005). CONCLUSION: Pregnancies conceived using assisted reproductive technologies are significantly less likely to be subjected to invasive testing than pregnancies conceived spontaneously in women of the same age and combined first trimester screen risk.

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease. Heterozygous mutations or deletions involving the gene ZFHX1B (previously SIP1) [OMIM 605802] have recently been found to cause MWS. There have previously been no reports of a sibling recurrence of this syndrome. A brother and sister are described with clinical features of MWS, where both have the same truncating mutation in exon 8 of ZFHX1B. As their parents are phenotypically normal and do not have the mutation in lymphocyte-derived DNA, the most likely explanation is germ-line mosaicism.