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Optimising the screening for haemoglobinopathies in pregnancy planning

Nickel, Robert S; Darbari, Deepika S; Martin, Brenda; Thaniel, Lisa; Stern, Harvey; Jacquot, Cyril
Haemoglobinopathies are among the most common inherited disorders around the world. In the United States the diagnosis of haemoglobinopathy or a carrier state is made by universal newborn screening. However, many individuals of childbearing age do not know they are a haemoglobinopathy carrier. Screening for common haemoglobinopathies is generally offered as a part of pregnancy planning so that prospective parents can be counselled regarding the risk of having a child with a haemoglobinopathy. Multiple tests exist to screen patients for presence of haemoglobinopathy carrier or disease state; however, it is crucial to order and interpret the results correctly to appropriately counsel couples. In this case series, we describe clinical scenarios where prospective parents were surprised to unexpectedly have a child with sickle cell disease, a haemoglobinopathy that causes severe clinical complications. Through these cases we demonstrate that deficiencies in testing can occur at different levels which may lead to incorrect estimation of the risk of having a child affected by a haemoglobinopathy. Consultation with a haematologist, laboratory medicine specialist, or genetic counsellor should be considered to select the appropriate test and interpret its results.
PMID: 36942480
ISSN: 1742-8149
CID: 5488252

Ectopic pregnancy after hysterectomy: a case report [Case Report]

Friedman, Alexander M; Martin, Brenda; Matteson, Kristen A
BACKGROUND:Ectopic pregnancy after hysterectomy is an unusual diagnosis that may lead to significant morbidity, especially when diagnosis is not timely. CASE/METHODS:A 41-year-old woman presenting with abdominal pain and vaginal bleeding 5 years after a vaginal hysterectomy was found to have a tubal ectopic pregnancy, which required emergent surgical intervention. CONCLUSION/CONCLUSIONS:Ectopic pregnancy after hysterectomy represents a challenging diagnosis because it is counter-intuitive and very uncommon. The diagnosis of posthys-terectomy ectopic pregnancy, though exceptionally rare, should be considered for women presenting with abdominal pain after hysterectomy.
PMID: 23447924
ISSN: 0024-7758
CID: 5488242