The role of perinatal palliative care following prenatal diagnosis of major, incurable fetal anomalies: a multicentre prospective cohort study.

OBJECTIVE: To describe prenatal decision-making processes and birth plans in pregnancies amenable to planning perinatal palliative care. DESIGN: Multicentre prospective observational study. SETTING: Nine Multidisciplinary Centres for Prenatal Diagnosis of the Paris-Ile-de-France region. POPULATION: All cases of major and incurable fetal anomaly eligible for TOP where limitation of life-sustaining treatments for the neonate was discussed in the prenatal period between 2015 and 2016. METHODS: Cases of congenital defects amenable to perinatal palliative care were prospectively included in each centre. Prenatal diagnosis, decision-making process, type of birth plan, birth characteristics, pregnancy and neonatal outcome were collected prospectively and anonymously. MAIN OUTCOME MEASURE: Final decision reached following discussions in the antenatal period. RESULTS: We identified 736 continuing pregnancies with a diagnosis of a severe fetal condition eligible for TOP. Perinatal palliative care was considered in 102/736 (13.9%) pregnancies (106 infants); discussions were multidisciplinary in 99/106 (93.4%) cases. Prenatal birth plans involved life-sustaining treatment limitation and comfort care in 73/736 (9.9%) of the pregnancies. The main reason for planning palliative care at birth was short-term inevitable death in 39 cases (53.4%). In all, 76/106 (71.7%) infants were born alive, and 18/106 (17%) infants were alive at last follow-up, including four with a perinatal palliative care birth plan. CONCLUSIONS: Only a small proportion of severe and incurable fetal disorders were potentially amenable to limitation of life-sustaining interventions. Perinatal palliative care may not be considered a universal alternative to termination of pregnancy. TWEETABLE ABSTRACT: Perinatal palliative care is planned in 10% of continuing pregnancies with a major and incurable fetal condition eligible for TOP.

[Immunization of the preterm infant]. / Vaccination du prematuré

Premature infants have an increased risk of experiencing infectious diseases, some of which are vaccine preventable diseases. Maturation of immune responses begins with exposition to environmental antigens and in premature infants as fast as in term-infants. Premature infants must be vaccinated at 2 months of age, whatever the gestational age. Acellular Pertussis vaccine and pneumococcal conjugate vaccine must be given as early as possible, at two months of age. Immunization schedule in premature infants is the same as in full-term infants : three injections one month apart with a pentavalent vaccine : Diphteria, Tetanus, Poliomyelitis, Pertussis and Haemophilus type b. First injection of hepatitis B vaccine must not be taken in account when this vaccine is given at birth to infants under 2 kg birth weight. Premature infants 6 months of age or older and experiencing chronic lung disease have to be vaccinated against influenza. In all cases, surroundings have to be vaccinated. Apnea and/or bradycardia have been reported within the 48 hours following vaccination in premature infants before 32 weeks of gestational age and justify giving their first injection of vaccine under cardiorespiratory monitoring. These injections will be given before discharge as often as possible.

Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype.

We report a semilobar holoprosencephaly (HPE) in a post-intracytoplasmic-sperm-injection pregnancy. It was suggested by ultrasonography (US), documented on karyotype, identified with magnetic resonance imaging (MRI), established after birth and confirmed on post-mortem autopsy. An amniocentesis revealed a de novo apparently balanced reciprocal translocation 46,XY, t(7;8) (q31.3;q12). Fluorescence in situ hybridization (FISH) identified a deletion in the region of the Sonic Hedgehog gene (SHH) on der(8); nevertheless, the subtelomeric regions for chromosomes 7 and 8 were present. The parents decided to continue the pregnancy; a boy was born and survived for 3 days. The brain autopsy confirmed the semilobar HPE previously noted on US and MRI. Further, band-specific FISH revealed, in addition to SHH deletion, the presence of an inversion in the 7q translocated material on der(8). The parents' karyotypes were normal. An unexpected complex rearrangement was present in a de novo apparently balanced reciprocal translocation in a semilobar HPE.