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Multiple miscarriages and future prevention

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My sister is a 38 year old, married and mother of a 9 year old daughter. She had 3 sad events of new baby born death. Now, she is planning her 5th pregnancy. She is very worried and likes to find out can she do anything to prevent another death. I think a neonatal specialist may be the best to review the case, please.


Category: Pulmonologist

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Category: ICU/ Critical Care Specialist
Dr. Saptharishi L G is online now

Expert:  Dr. Saptharishi L G replied 4 Days.

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


Patient replied :

here the details:
G1P1: normal pregnancy and delivery of baby girl,now aged 9, in good health.
G2p2: in 2007 normal pregnancy and delivery of a baby boy,at 42 weeks, birth weight 4kg, Apgar9, in less than 24 hours post delivery, he developed severe acute respiratory distress with severe cyanosis of the face and extremities, refuse to suck. I dont have other details.However, the baby had autopsy afterwards which revealed that the baby suffered a pathological state of enterohemorrhagic colitis, hemorrhagic infiltration of mediastinum, mesentery, right kidney and surrenal, and large hemorrhage in the peritonium. It was stated that was a direct cause of the death despite intensive reanimation. He died on day 2 after delivery.
G3p3: in 2008, normal pregnancy and delivery of a baby girl, at 40 weeks, weight 3.8 kg, Cranium perimeter 36cm, Apgar 9/10, 10/10. On the first hour she developed a respiratory distress,temperature 38, and initially diagnosed of right pneumothorax, CRP 48, wcc 4800, hb 10.3, platelets 183.000, TP 26%, TCK 35 seconds, Baby received vit K, She was A Rh negative. She also presented later with a severe infection with icterus for which she received phototherapy and double antibiotics cefataxime and amikacyn. 24 hours later she died with partial right pneumothorax and severe enterobacter infection in two sites pulmonary and urinary.
G4p3: in 2011, normal pregnancy, cesarean delivery, of a baby boy,at 38 weeks, I dont have much details but the mother reported similar symptomes of respiratory type, autopsy revealed cyanosic of the face and extremities, polyviscerale congestion, and a bullous emphysema of the right median pulmonary lobe, flat alveoles and bronchioles, lung that had partial respiration despite artificial ventilation.

Regarding other questions: The parents are not co sanguine not even cousins, mother is A rhesus positive, She had a very good follow up during pregnancies 4 visits to gyn , routine blood test and toxoplasmose rubeolla, Bp, diabetes, no problems identified. None of her sisters had simmilar events, each of her sisters had 4, 2, and 2 children. I have the autopsy report in the French language.
The mother was always in good health around the pregnancies and deliveries. Only later, in 2012 she was diagnosed with hypothyroidism and carrence in vit D for witch she took a course of carbimasole and levothyrox and Vit D injection. Now all her TFT and Vit D are normal she has stopped carbimasole and Vit D. She is hopping to become pregnant again. all her deliveries were in hospitals


Expert:  Dr. Saptharishi L G replied 3 Days.

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


Patient replied :

Thank you for your answer, but I still have more questions. My sister's first baby is living and healthy aged 9.
1/If she is SCID carrier why the problem did develop in the first baby.
2/ What are the exact blood tests that she needs to have to rule out / confirm the diagnosis. Can they be done by sending the specimen from Algeria to a different country I mean France.
3/In Algeria amniocentesis are possible, but Iam not sure about all the tests can you tell me exactly what are the tests called. I will try to see if they are available.
4/If it happen that she has one of the possibilities what is the treatment in congenital surfactant synthetic deficiency.Bone marrow transplantation I guess in SCID.
What other details do you need to help you see clearer.
Thank you


Expert:  Dr. Saptharishi L G replied 2 Days.

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


Dr. Saptharishi L G
Category: ICU/ Critical Care Specialist
Experience: 
Senior Residency: DM,  Pediatric Critical Care, PGIMER

Residency: MD, Pediatrics, Postgraduate Medical Education & Research (PGIMER), Chandigarh, 2013

Internship: JIPMER, 2009

Medical School: MBBS, Jawaharlal Institute of Post-graduate Medical Education & Research (JIPMER), Puducherry, 2008
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