Perinatal characteristics and early childhood follow up after ex-utero intrapartum treatment for head and neck teratomas by prenatal diagnosis.

BACKGROUND: Ex utero intrapartum treatment (EXIT) is utilized for safe delivery when a baby has a compromised airway. The purpose of this retrospective study was to examine the indications and outcomes of 11 children presenting with airway occluding oropharyngeal and cervical teratomas. METHODS: Study of all children with an airway occluding teratoma delivered via EXIT (2001-2018) in our unit. Primary outcomes included survival and tracheostomy at discharge. Data are reported using descriptive statistics as median (range) and rate (%). RESULTS: We performed 45 EXIT procedure performed between January 2001 and April 2018. Of these, eleven were for cervical and/or upper airway teratoma. Ten (91%) cases had associated polyhydramnios, two (18%) developed nonimmune hydrops, and eight (72%) delivered preterm. Six (45.5%) were performed as an emergency. Estimated blood loss was 1000 ml (500, 1000). The neonatal mortality rate was 18% (2/11) and 33% (3/9) of the survivors were discharged with a tracheostomy. CONCLUSION: EXIT is a reasonable option for delivery of babies with an occlusive upper airway mass. Neonatal survival depends on individualized factors but may be as high as 82% in those with teratoma.

A family affair-Severe fetal and neonatal hemolytic anemia due to novel alpha-spectrin mutations in two siblings.

Hereditary spherocytosis (HS) is the most common cause of inherited, nonimmune hemolytic anemia. When inherited in an autosomal dominant fashion, the anemia is typically mild. However, severe, transfusion-dependent anemia is seen in autosomal recessive HS, which is often associated with deficient or absent red blood cell membrane protein alpha-spectrin. We report a 26-year-old para one who was referred to our center at 28 weeks' gestation due to concerns for fetal anemia. Evaluation revealed elevated peak systolic velocity in the middle cerebral artery by Doppler scan and fetal cardiomegaly. Fetal hematocrit obtained by sampling the umbilical vein was 9% confirming severe fetal anemia. Fetal peripheral smear was consistent with hereditary spherocytosis. Genetic analysis of both parents confirmed heterozygosity for the SPTA1 variants (pathogenic variant c.4180del (p.C1394Afs*25), and a variant of uncertain significance, c.1677G>T (p.G449G)) detected by a hemolytic anemia panel in the patient's first child. It is important to consider genetic causes of anemia in patients presenting with severe nonimmune fetal anemia, including autosomal recessive HS. We present a case of autosomal recessive HS with a novel pathogenic variant in the SPTA1 gene which resulted in significant impact on prenatal management.