Aim Pregnancy with myasthenia gravis (MG) is known to be associated with an increased cesarean section rate, presumably due to maternal fatigue during labor. Although epidural labor analgesia (ELA) appears to be a good option for circumventing maternal fatigue, a protocol for managing MG deliveries has not been established. This study, based on a review of our case series, aimed to evaluate the validity of our management protocol for maternal MG, in which ELA is used depending on MG severity. Methods Parturients with systemic muscle weakness or worsening symptoms were classified as Category A (A), and those without symptoms were classified as Category B (B). In A, ELA was given at the onset of labor. Immediate vacuum delivery was done once the fetal head descended to station +2. For B, spontaneous vaginal delivery was chosen. The duration, blood loss, fetal weight, Apgar score and MG symptoms on post‐partum day (PPD) 1, 14 and 30 were recorded. Results Six patients were enrolled. Four were classified in A, and two were classified in B. No adverse events occurred during labor. Transvaginal delivery was successfully achieved in all the patients. Symptoms of MG were well‐controlled. MG symptoms were stable on PPD 1 in all the patients although two patients complained of worsening symptoms after PPD 14. Conclusion Women with MG can safely undergo spontaneous or operative vaginal delivery. ELA is a good option for circumventing the effects of maternal fatigue on delivery. Our protocol may lower the cesarean section rate in maternal MG.
Pallister-Killian syndrome (PKS) is a rare genetic syndrome characterised by facial anomalies (prominent forehead with sparse temporal hair, broad nasal bridge, hypertelorism, wide mouth), variable developmental delay and intellectual impairment, hypotonia, seizures, pigmentary skin differences, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. It is caused by supernumerary isochromosome 12p (tetrasomy 12p). Prenatal diagnosis is difficult and mostly confined to second or third trimester. It can be suspected from ultrasound findings, however the proof by targeted FISH genetic analysis is essential for certain diagnoses. We report a case of Palliser-Killian syndrome, that was diagnosed prenatally at 18 gestational weeks in our clinic. The pregnant lady booked for second opinion scan in our centre due to the ultrasound finding of 7 minor markers in other centre. In this centre she already underwent CVS due to increased nuchal translucency. Karyotype and microarray investigation were normal, screening for deletion of exons 7 and 8 of the SMN1 gene and mutations of the FGFR3 gene were negative. Ultrasound examination in our centre revealed normohydramnion, asymmetrical fetal growth and spastic fetal movements. Several fetal abnormalities (many different from previous centre) were found: thick nuchal fold, mild bilateral hydronephrosis, omfalocele with partial herniation of the liver, facial anomalies (flat profile, high forehead, wide flat nose, outer eye corners pointing downwards and low insertion of ears). Fetal echocardiography showed tricuspid regurgitation in otherwise normal heart. Fetal thymus couldn't be identified. We asked for targeted genetic analysis for Killian-Pallister, DiGeorge and fragile chromosome X. Repeated genetic analysis (FISH) confirmed Pallister-Killian syndrome by finding of 80% mosaicism of tetrasomy 12p. The mother decided to terminate the pregnancy. EP13.05Upper limbs malformation and mutation in RECQL4 gene first trimester prenatal diagnosis At 12-5 weeks of gestation, the ultrasound findings showed a fetus corresponding to amenorrhea, with hypoplasia / agenesis of bilateral radii accompanied by malpositioned hands. Chorionic villus sampling was undertaken. The ultrasound was repeated one week later with the same findings, so the couple decided to terminate the pregnancy. The CVS analysis included karyotype and arrayCGH, but no alteration was detected. Seven months later, the couple came again to perform an ultrasound at 12-4 weeks of a new gestation. Similar findings were observed plus malpositioned feet and a discrete retrognathia. CVS was performed but shortly after the pregnancy was once again interrupted. Fetal necropsy of the second pregnancy confirmed the ecographic findings. The first fetus was subsequently analysed using a custom-designed Skeletal dysplasia Next generation sequencing panel (SkeletalSeqV6, n=368 gene). The fetus was found to be a compound heterozygote for two RECQL4 mutations, one novel and one previously described, p.(Met1?)(Ph...
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Gatrointestinal duplication cysts are congenital anomalies that can be associated with severe adverse outcomes, such as hemorrhage, intestinal obstruction, or intestinal torsion. Despite their substantial postnatal impact, antenatal scans have been reported to identify only 20–30% of such cases. Although the gut signature sign is considered to be relatively specific in the diagnosis of enteric duplication cysts, the classic five-layered appearance is not always easy to demonstrate in the prenatal setting. We present a case of a fetal enteric duplication cysts that presented as a migrating, peristaltic cyst prenatally with the positive ‘bilayer sign.’ Given the challenging circumstances for diagnosis, we also provide a few insights on the altering appearance of the gut signature sign and describe other practical ultrasonic features used to diagnose enteric duplication cysts.
Background: Although postpartum hair loss is believed to be common, there is little reliable information.Objective: We sought to examine the factors that were associated with postpartum hair loss and to elucidate factors correlated with its pathogenesis. Methods:We carried out a questionnaire-based cross-sectional study. The study participants were women who delivered at 2 facilities and filled the questionnaire 10-18 months after delivery. The survey questionnaire included baseline characteristics, pregnancy details, delivery, childcare, and extent of postpartum hair loss. We divided participants into 2 groups according to the absence or presence of postpartum hair loss and performed logistic regression analyses.Results: A total of 331 (21.0%) responses were analyzed; among these 304 (91.8%) women had postpartum hair loss. The average time for the start, peak, and end of hair loss was 2.9, 5.1, and 8.1 months, respectively. Women with hair loss had an earlier time of delivery, a lower birth weight, a higher preterm labor rate, and longer-term breastfeeding. Logistical regression analyses revealed that longer-term breastfeeding and preterm labor were independent predictors of postpartum hair loss. The adjusted odds ratio for postpartum hair loss in women who ended breastfeeding 6-12 months postpartum versus those who ended it after 12 months or more was 5.96 (95% confidence interval [CI] [1.68, 21.09]) and 6.37 (95% CI [1.95, 20.76]) compared with those who stopped breastfeeding within 6 months postpartum.Limitations: Finer details such as pregnancy complications and delivery information may not be accurate since all results are based on questionnaire responses. There may be a sampling bias because women who suffer from postpartum hair loss may tend to participate more frequently. Conclusion:Over 90% of women experienced postpartum hair loss. Our data show that long-term breastfeeding and preterm labor correlate with postpartum hair loss.
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