The fatal fetal tumor: a geneticist's perspective.

Epignathus is an extremely rare oral teratoma which leads to high mortality in the early neonatal period. Various theories have been put forward for the genesis of such a tumor, though none is completely convincing. A genetic basis is not well established for the tumor. Microdeletions/duplications, as well as single gene disorders, have been known to cause epignathus, all with additional malformations. Evidence of single gene involvement in an isolated epignathus is lacking. We present a case of a 19-week-fetus with oro-pharyngeal teratoma detected on the level II ultrasound. The couple was counseled regarding the grave prognosis of the fetal condition following which they opted for termination of pregnancy and fetal autopsy. The autopsy revealed fetus-like body attached to the tumor. Genetic testing including a whole genome microarray did not reveal any significant variant. An explanation for the fetus-like body maybe a common origin of the teratoma and the additional fetus-like bodies due to an erroneous process of early embryonic development. Another possibility is of an acardiacus acranius twin masquerading as a fetus-like body. Thus, we conclude that in the absence of an associated malformation, an epignathus is unlikely to have a genetic etiology. This study highlights the importance of performing a fetal autopsy as a part of deep phenotyping to ascertain the etiology, as it identified additional fetal-like body which was not detected on the antenatal ultrasound.

Group B Streptococcus in Indian pregnant women: Its prevalence and risk factors.

Purpose: To study the prevalence of group B streptococci (GBS) in Indian pregnant women and associated risk factors. Methods: Four hundred and fifty pregnant women attending antenatal outpatient/inpatient department between 35-38 weeks of gestation were enrolled in the study. All enrolled subjects were assessed by a predefined proforma for their demographics, socio-economic characteristics, education, toilet habits, obstetric history and clinical outcome. Two cotton swabs each from lower vagina and rectum were collected and plated on selective solid media CHROM agar Strept B (CHROMagarTM) and selective Enrichment Broth LIM RambaQUICK StreptB broth (CHROMagarTM). Presumptive identification of GBS was growth of 1-3 mm grayish white ß-hemolytic colonies on BAP or mauve coloured colonies on CHROM agar Strept B. All presumptively identified GBS were confirmed as group B streptococcus by automated identification system-Vitek MS (Bio Merieux). Results: The recto vaginal colonization rate of GBS in this study was observed as 3.3% (n=15). GBS colonization was significantly associated with nulliparous women (p= 0.026) and use of western style toilet (p=0.017). GBS urinary tract infections was also seen more commonly in women with GBS rectovaginal colonization (p=0.002). Conclusion: Due to the low GBS prevalence and no significant association with major risk factors, we recommend to institute universal screening of GBS in pregnant women, instead of risk based screening. Since this was a single centric study with low prevalence of GBS, its applicability may be limited, therefore further larger multi-centric prospective studies are required to understand the true GBS prevalence in Indian society.