Hello,

Thank you for choosing DoctorSpring

The situation that you have described is very saddening and many a time, entirely preventable. As neonatalogists/ paediatric intensivists, we do see these scenarios frequently in our practice. But before I proceed any further, there are a few more details that I would request you to provide:
1. What was the gender of the three newborns? Were they all male babies?
2. Is the marriage consanguineous?
3. What was the age of the babies when they expired?
4. What problems did they have before they expired? what actually went wrong?
5. Is there any similar history in any of the family members? Has any other couple in the family lost multiple newborns or has had multiple abortions/ still births?
6. Was there any abnormal odour noticed in any of the three babies?
7. Where were these babies delivered? What were the events immediately after delivery? was there any perinatal asphyxia? Did the babies cry immediately after birth? Did they have significant neonatal jaundice? Did any of the three babies have seizures/ poor feeding/ lethargy prior to demise?
8. Were these babies hospitalised prior to demise? If yes, what tests were done at that point? Do we have any of those reports now?
9. Was autopsy/ post-mortem testing performed on any of those babies?

Regards
Saptharishi L G

Dr. Saptharishi L G
DM (Pediatric Critical Care) Senior Resident
MBBS, MD (Pediatrics), PGDCRL
Division of Pediatric Critical Care
Dept. of Pediatrics
Advanced Pediatrics Center

Hello again,
You have provided lots of very useful information about the earlier pregnancies. Thank you.
These are some of the common features regarding all three newborn deaths:
1. All three babies had good birth weight (in fact, higher than normal) and were normal at birth
2. All three had respiratory complaints, with onset soon after birth.
3. All three had bleeding manifestations and second baby had prolonged PT

In view of these points, and documented infection in second baby, a possibility of primary immune-deficiency has to be considered. Work up for Severe Combined Immuno-deficiency (SCID) carrier state needs to be done in the mother. Genetic screening can be done for SCID and other primary immunodeficiencies antenatally via amniocentesis or chorionic villus sampling.

The other possibility of a congenital surfactant synthetic deficiency also becomes likely as all the three developed severe respiratory distress. These disorders have been described in term babies who develop respiratory distress soon after birth and like, in our third baby, lungs may not get inflated adequately despite positive pressure ventilation. Antenatal genetic testing for this problem is also available in select centers. Overall, it would be very difficult to pin point to a specific diagnosis based on the available information.

Regards
Dr. Saptharishi L G

Hello,

Though the possibilities of these two diseases need to be considered, it is difficult to confirm their presence or absence at this point. To clarify your queries:
1. In inherited/ genetic diseases, it is not necessary that all children need to be affected. It depends on the nature of inheritance. Autosomal dominant disorders behave that way, affecting all those who carry the genes. But, in autosomal recessive disorders, some may be asymptomatic carriers. But, in certain disorders, it may be important to check for carrier status.
2. In a child/ adult, testing involves blood tests to assess the percentage of T cells, B cells and their subtypes. Antenatally, the testing involves genetic testing for the various variants of SCID (nearly ten types are described commonly) and congenital surfactant deficiencies (Surfactant Protein C deficiency & ATP-Binding Cassette (ABCA3) gene defects). These tests must be available in France. We are not sure about their availability in Algeria.
3. You need to consult your Ob/Gyn consultant and co-ordinate with a feral medicine expert to get these tests done. The Advanced Fetal Care center of the Boston Childrens' Hospital is one of the most equipped centres. You can feel free to contact 1-866-FETALCARE (1-866-338-2522) to speak with them.
4. In congenital surfactant deficiency, the treatment of choice is lung transplantation.

The other details that I was referring to involves clinical examination of the children and obviously, that completes the assessment of any baby. Despite best efforts, in many cases involving newborn deaths, the cause still remains unclear. I hope that I have helped sort out at least a few of your queries. I must acknowledge that this is a particularly challenging case.

Regards