Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study

Prenatal Diagnosis
Piero C GiordanoFlorens G A Versteegh

Abstract

We have offered, for the first time in The Netherlands, carrier diagnostics for hemoglobinopathies (HbP) to early pregnant women. The aim of this study was to establish whether carrier analysis would be welcome by the public and feasible at the outpatient level. One hundred and thirty-nine randomly selected women were informed and offered basic carrier diagnostics at the first pregnancy control. Carrier diagnostics was accepted by 136 women (97.8%). The population consisted of 31% of recent immigrants and 69% of native Dutch. One carrier of HbS and one of beta-thalassemia were found, both among the group of the recent immigrants. In both cases, partners were tested excluding a couple at risk. In addition, five carriers of alpha(+)-thalassemia were diagnosed at the molecular level, one of them in the native Dutch population. Basic carrier analysis was done both at the Hospital Laboratory and at the Reference Laboratory. No discrepancies were found. This pilot study shows that (1) as predicted the prevalence of risk-related HbP and of alpha(+)-thalassemia is high in the immigrant population. (2) The compliance with carrier analysis in both native Dutch and immigrants is virtually total and (3) carrier diagnosis in early pregnancy...Continue Reading

References

Jun 29, 2000·Baillière's Clinical Haematology·L F Bernini, Cornelis L Harteveld
Aug 2, 2001·Hemoglobin·M H Steinberg
Nov 13, 2004·BMJ : British Medical Journal·Ashraf Samavat, Bernadette Modell
Mar 17, 2005·Hemoglobin·Majid YavarianPiero C Giordano
Apr 9, 2005·Human Reproduction Update·Christopher De Jonge
Aug 24, 2005·Family Practice·Nadeem QureshiBernadette Modell
Aug 27, 2005·Prenatal Diagnosis·Piero C GiordanoCornelis L Harteveld

Citations

Apr 29, 2008·Genetic Testing·Roshan ColahDipika Mohanty
Jan 1, 2009·Mediterranean Journal of Hematology and Infectious Diseases·Antonio Amato, Piero C Giordano
Feb 4, 2009·European Journal of Haematology·Nadia Sardón EstévezJozef P M C Gorgels
Dec 18, 2012·International Journal of Laboratory Hematology·Judith O KaufmannPiero C Giordano
Jun 1, 2016·The Indian Journal of Medical Research·Somphon PharephanLuksana Makonkawkeyoon
Dec 15, 2015·Journal of Clinical Pathology·Pacinte Moez, Doreen Nazeih Assaad Younan
May 14, 2008·Hemoglobin·Béatrice GulbisRed Blood Cell Disorders Subcommittee of the Belgian Haematological Society
Mar 27, 2018·Transactions of the Royal Society of Tropical Medicine and Hygiene·Samuel A AdegokeAdekunle D Adekile
Oct 28, 2011·Prenatal Diagnosis·Judith O KaufmannJean-Louis Kerkhoffs

Related Concepts

Anemia, Sickle Cell
Genetic Screening Method
Hemoglobinopathies
Genetic Carriers
Health Care Seeking Behavior
Pilot Projects
Antenatal Screening Procedures
Alpha-Thalassemia
Thalassemia Minor

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