Robert S Nickel, Deepika S Darbari, Brenda Martin, Lisa Thaniel, Harvey Stern, Cyril Jacquot
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引用次数: 0
Abstract
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.
期刊介绍:
Human Fertility is a leading international, multidisciplinary journal dedicated to furthering research and promoting good practice in the areas of human fertility and infertility. Topics included span the range from molecular medicine to healthcare delivery, and contributions are welcomed from professionals and academics from the spectrum of disciplines concerned with human fertility. It is published on behalf of the British Fertility Society.
The journal also provides a forum for the publication of peer-reviewed articles arising out of the activities of the Association of Biomedical Andrologists, the Association of Clinical Embryologists, the Association of Irish Clinical Embryologists, the British Andrology Society, the British Infertility Counselling Association, the Irish Fertility Society and the Royal College of Nursing Fertility Nurses Group.
All submissions are welcome. Articles considered include original papers, reviews, policy statements, commentaries, debates, correspondence, and reports of sessions at meetings. The journal also publishes refereed abstracts from the meetings of the constituent organizations.