Manisha Madhai Beck

Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis

Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Alternative names for HI include- keratosis diffusafetalis, ichthyosis congenital, icthyosis fetalis, harlequin fetus and icthyosis congenital gravior. It is an autosomal recessive disorder with the majority of affected individuals being homozygous for mutation in the ABCA 12 gene. This condition presents with a wide range of severity and symptoms. Affected neonates usually do not survive beyond first few days of life. We are presenting prenatal diagnosis of a case of this rare condition.

Risk Factors for Stress During Antenatal Period Among Pregnant Women in Tertiary Care Hospital of Southern India.

BACKGROUNDnThe well-being of an infant may be affected when the mother is subjected to psychosocial stress during her pregnancy. Mothers exposed to stressful conditions were more prone for preterm birth than those without any stress. In this study perceived stress has been used as an indicator of levels of stress. There are very few studies published from developing countries on the levels of perceived stress and its causes in pregnant women.nnnMATERIALS AND METHODSnThis study employed a cross-sectional assessment of pregnant women attending the outpatient services of a tertiary care hospital for regular antenatal check-up. Women not known to have any risk factors at 28 weeks to 34 weeks of pregnancy who agreed to participate in the study were interviewed to assess the perceived stress score.nnnRESULTSnAmong the total patients 57.7% were primigravida and the mean score on perceived stress scale was 13.5±5.02. The majority of the group (102; 65.4%) scored higher than the mean value of total score on the perceived stress scale. Unplanned pregnancy and husbands employment status were associated with high levels of perceived stress in multivariate analysis in this set of women.nnnCONCLUSIONnIndividual as well as pregnancy related factors can contribute to perceived stress in pregnant women. With the established relationship between maternal mental health, pregnancy outcome and infant growth, the assessment and management of stress early in the pregnancy is crucial.

Ex Utero Intrapartum Treatment (EXIT) for a Large Fetal Neck Mass

A 23-year-old primigravida was referred to our hospital at 36xa0+xa05xa0weeks gestation with scan showing gross polyhydramnios and fetus having a large neck mass. She had no antenatal risk factors. An anomaly scan done at 22-week gestation was told to be normal. n nRepeat scan done here showed gross polyhydramnios with the amniotic fluid index (AFI) being 44xa0cm. The fetus was growth restricted with an estimated fetal weight of 1.8xa0kg. There was a 8xa0×xa06xa0cm left anterolateral mass on the fetal neck, which was solid, well defined with minimal vascularity (Fig.xa01). There seemed to be no retrosternal extension of the mass. There was no other structural abnormality to account for the fetal growth restriction (FGR) with polyhydramnios. Her glucose tolerance test at fifth month was normal. n n n n nOpen in a separate window n n nFig.xa01 n n nPrenatal USG of 37-week fetus showing 8xa0×xa06xa0cm cervical mass, lying next to fetal head. The mass appeared solid, with heterogenous appearance and minimal vascularity on Color Doppler

Tumour lysis in newborn: spontaneous or secondary to antenatal steroids?

Malignancies are rare in the early neonatal period. Common congenital tumours include malignant teratoma and neuroblastomas. Tumour lysis syndrome is a serious condition usually seen after commencement of chemotherapy for a malignancy. Rare case reports of spontaneous tumour lysis have been reported though not in the newborn period. We report here an instance of tumour lysis syndrome in a newborn with congenital rhabdoid tumour, where the cause was either spontaneous or related to antenatal steroid exposure.

Prevalence of Group B Streptococcal colonization among pregnant women and neonates in a tertiary hospital in India

Objective: To estimate the prevalence of group B Streptococcus (GBS) carriage among pregnant women attending the antenatal clinic, and the colonization rates among newborn born to colonized mothers. Material and Methods: Women attending the antenatal clinic between 35-37 weeks were screened using rectal and lower vaginal swab. Swabs were initially plated on sheep blood agar and LIM broth. The LIM broth was subcultured after 24 hours onto blood agar and CHROMagar StrepB plates with all plates checked for growth at 24 and 48 hours. All babies born to mothers in the study had surface swabs taken to estimate the vertical transmission rate. Results: Between September 2012 and March 2013, 305 consecutive mothers were screened. Of these, eight mothers were GBS positive in 5% blood agar (2.6%) and 23 mothers showed GBS positivity in enriched media (7.6%). Sixteen of 238 babies (6.7%) were colonized. Conclusion: Though lower than rates from most countries, 7.6% of mothers attending an antenatal clinic in south India were colonized with GBS. Use of enrichment media markedly increased the detection rate. Approximately two-thirds of newborn born to colonized mothers were also colonized. There were no instances of invasive GBS disease, indirectly proving the efficacy of intrapartum prophylaxis in preventing neonatal GBS disease.

Acardiac Twin: A Report of Two Cases

Multiple gestations, especially monochorionic twins are associated with unique complications such as twin to twin transfusion syndrome (TTTS)xa0and twin reversed arterial perfusion (TRAP) sequence due to preferential blood flow within the vascular communications between the two fetuses. TRAP sequence is a rare complication of monochorionic twins. The authors describe two cases of acardiac twins, one diagnosed at 17 weeks and the other at 24 weeks. While the first one was lost to follow-up, the second pregnancy was managed expectantly with close antepartum surveillance and had a term vaginal delivery of a healthy baby, along with the acardiac twin which was non-viable. The pump twin continues to be developmentally normal.

Management of intrauterine growth restriction

Intrauterine growth restriction (IUGR) is a condition where the fetus does not attain its biologically determined growth potential due to a pathological process. The main tools for antenatal surveillance in a growth-restricted fetus include amniotic fluid volume, Doppler studies, and biophysical profile. The frequency of surveillance depends on the severity of the growth restriction and the findings on previous ultrasound studies. The decision to deliver the fetus is dependent on factors such as gestational age, severity of growth restriction, and findings on the Doppler studies. If there is severe abnormality in the Doppler studies, lower segment cesarean section is recommended as the mode of delivery. Vaginal delivery may be attempted after induction of labor if Doppler parameters are normal, in a center with adequate facilities for monitoring facilities and when there are personnel with expertise. This review provides an overview of antenatal monitoring in a pregnancy with IUGR and decision-making during the time of delivery.