Oesophageal atresia: sonographic signs may prenatally predict surgical complexity

ObjectiveOesophageal atresia (OA) is a major anomaly of varying severity. The complexity of surgical correction highly depends on the gap length of missing oesophagus and the presence of a distal fistula. The aim of this study was to identify antenatal sonographic findings associated with presence of a distal fistula and type of surgical repairMethodsPrenatal medical records of neonates postnatally diagnosed with OA were reviewed. Sonographic signs of OA (small/absent stomach, polyhydramnios, oesophageal pouch) and the trimester at sign detection were recorded and compared between (1) OA with and without a distal fistula and (2) early one-step versus delayed two-step anastomosis. Multivariate analysis was performed.ResultsOverall, 80 cases of OA were included. Absence of a distal fistula was significantly associated with higher rates of small/absent stomach (100% vs 28.6%, P<0.0001), oesophageal pouch (100% vs 24.3%, P<0.0001) and severe polyhydramnios (66.7% vs 22.9%, P=0.006), compared with OA with a distal fistula.Cases requiring a delayed two-step repair had higher rates of small/absent stomach (84.2% vs 16.7%, P>0.0001), severe polyhydramnios (47.4% vs 16.7%, P=0.008) and oesophageal pouch (73.7% vs 18.5%, P<0.0001), compared with those corrected in an early one-step anastomosis.Multivariate logistic regression found small/absent stomach and pouch to be significantly and independently associated with a delayed two-step anastomosis.ConclusionOA without a distal fistula is associated with higher rates of prenatal sonographic signs. Both small/absent stomach and a pouch are independently associated with a delayed two-step anastomosis. These findings may help improve antenatal parental counselling regarding the anticipated surgical repair.

Hemifacial Microsomia (HFM) and Treacher Collins Syndrome

Hemifacial microsomia and Treacher Collins syndrome are two entities which arise as a consequence of abnormal development of first and second branchial arches in utero. As a result, these dentofacial deformities present with abnormal facies especially the maxilla and mandible. They may also occur as part of other syndromes and may involve other structures of the body. In this chapter, we have discussed the etiology, clinical features, radiological assessment and treatment planning of such cases. Special emphasis should be made on early diagnosis, challenges of airway management and feeding and parental counselling. Since the two deformities are largely considered to be non-progressive, early distraction plays an important role in correction of the dentofacial deformity in these patients.

Glucose-6 phosphate dehydrogenase deficiency and newborn screening

Glucose-6 phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder causing breakdown of RBCs. It affects over 400 million people, making it the most common enzymopathy in the world. It leads to hereditary predisposition to hemolysis. In India, various study results reveal an incidence ranging from 2 to 27.9% in different communities. It is known globally for its genetic and phenotypic heterogeneity with 13 biochemically characterized variants have been reported from India, G6PD Mediterranean being the most common. It is mostly asymptomatic but certain triggers like infections, some medications, chemicals, stress or food may precipitate hemolysis. It is important to understand the epidemiology and distribution pattern in India because of its higher prevalence in tribal population who are more prone for malaria. Irrational use of drugs for malaria treatment has attributed high mortality especially neonatal mortality, in this community. Newborn screening is one of the best options to diagnose the case at neonatal age. Implementation of newborn screening would aid in identifying the genetic disorders in order to provide comprehensive care along with parental counselling to reduce the complications associated with it.

Agnathia-otocephaly complex: a case report and a literature review on recurrence risk

ObjectivesAgnathia-otocephaly complex (AOC) is an extremely rare, lethal disorder causing obstruction of the upper airway at birth due to absence of the mandible and hypoplasia of the oral cavity. Implications for future pregnancies need to be elucidated by parental counselling, as recurrence of AOC or associated comorbidities are possible. Very little is known on this subject, because of the rarity of the disorder and scarce data on genetic causes of this complex. The objectives of this study were to determine the recurrence risk and mode of inheritance for AOC based on current literature.ContentsRecurrence of AOC or associated comorbidities within the family of an index case was reported in eight articles, describing 7 and 27 relatives, respectively. There were eight AOC cases in which the genetic cause was known. Mutations in 2 genes, orthodenticle homeobox 2 (OTX2) and paired related homeobox 1 (PRRX1), have been described. Due to its mainly sporadic appearance, recurrence risk is low. Counselling on recurrence risk is difficult, because of a broad heterogeneity with complex inheritance patterns and variability in phenotypic expression.OutlookChromosomal analysis and exome sequencing in children with AOC will help unravel current aetiological uncertainties and could help in further reproductive decisions. We emphasize the need for timely diagnosis through ultrasound, providing parents with the opportunity to receive multidisciplinary counselling, giving them the chance to contemplate their management decisions.

A rare case of conjoined twins presenting as dicephalus parapagus: a case report

Conjoined twinning is a congenital abnormality resulting in various presentations of the fetuses in utero. It is a rare embryological developmental disorder occurring in one in 100,000 births. We present a case of conjoined twinning, which is characterized by the presence of two heads, single vertebral column and single symphysis pubis, with single genitor-urinary tract and single gastro intestinal tract. The present condition, referred to as dicephalus parapagus, is a rare entity among the conjoined twinning and has seldom positive outcomes. The mechanism of occurrence of conjoined twinning has been proposed either through fusion or fission of the embryos. In either case, surgical separation of the conjoined twins is often unsuccessful and results in increased morbidity and mortality. However, it is essential to screen for the presence of such congenital anomalies early during pregnancy, in order to terminate and provide parental counselling.

Live born recipient of twin–twin transfusion syndrome with anomalous mitral arcade

We present a case report of anomalous mitral arcade in a live born former recipient of twin–twin transfusion syndrome. At 33+0 week of gestation fetal ultrasound demonstrated that she had a large mitral insufficiency, decreased movement of the lateral cusp of the mitral valve and dilated left atrium. The twins were delivered by caesarean section at week 33+1 due to fetal distress. The former recipient twin developed decompensated heart failure during her first day of life and was transferred to a surgical paediatric heart centre. Her clinical condition rapidly deteriorated, and she died of congestive heart failure 3 days old. Prenatal signs of anomalous mitral arcade in a recipient of twin–twin transfusion syndrome should warrant preparation of a critically ill neonate, including parental counselling and in utero transfer to surgical paediatric heart centre. There is a surgical treatment option available for neonates, but the experience with this technique is still very limited with a high risk of morbidity and mortality.

Omphalocele: from diagnosis to growth and development at 2 years of age

ObjectivesTo compare the prenatal frame of reference of omphalocele (ie, survival of fetuses) with that after birth (ie, survival of liveborn neonates), and to assess physical growth and neurodevelopment in children with minor or giant omphalocele up to 2 years of age.DesignWe included fetuses and neonates diagnosed in 2000–2012. Physical growth (SD scores, SDS) and mental and motor development at 12 and 24 months were analysed using general linear models, and outcomes were compared with reference norms. Giant omphalocele was defined as defect ≥5 cm, with liver protruding.ResultsWe included 145 fetuses and neonates. Of 126 (87%) who were diagnosed prenatally, 50 (40%) were liveborn and 35 (28%) survived at least 2 years. Nineteen (13%) neonates were diagnosed after birth. Of the 69 liveborn neonates, 52 (75%) survived and 42 children (81% of survivors) were followed longitudinally. At 24 months, mean (95% CI) height and weight SDS were significantly below 0 in both minor (height: −0.57 (−1.05 to –0.09); weight: −0.86 (−1.35 to –0.37)) and giant omphalocele (height: −1.32 (−2.10 to –0.54); weight: −1.58 (−2.37 to –0.79)). Mental development was comparable with reference norms in both groups. Motor function delay was found significantly more often in children with giant omphalocele (82%) than in those with minor omphalocele (21%, P=0.002).ConclusionsThe prenatal and postnatal frames of reference of omphalocele differ considerably; a multidisciplinary approach in parental counselling is recommended. As many children with giant omphalocele had delayed motor development, we recommend close monitoring of these children and early referral to physical therapy.