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Arch Gynecol Obstet. 2018 Aug;298(2):307-311. doi: 10.1007/s00404-018-4807-4. Epub 2018 Jun 9.

Invasive prenatal diagnosis of α-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15 years of experience.

Lai K1,2,3, Li S1,2, Lin W1,2, Yang D1,2, Chen W1,2, Li M2, Pang L2, Chen P4,5.

Author information

1
The Key Laboratory of Thalassemia Medicine, Chinese Academy of Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China.
2
Guangxi Key Laboratory of Thalassemia Research, Prenatal Diagnosis Center, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
3
Guangxi Collaborative Innovation Center of Biomedicine, Guangxi Medical University, Nanning, Guangxi, China.
4
The Key Laboratory of Thalassemia Medicine, Chinese Academy of Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China. cping62@126.com.
5
Guangxi Key Laboratory of Thalassemia Research, Prenatal Diagnosis Center, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. cping62@126.com.

Abstract

PURPOSE:

The aim of the present study was to report experiences with invasive prenatal diagnosis of α-thalassemia for the prevention of Hb Bart's hydrops fetalis syndrome in the Guangxi Zhuang Autonomous Region, China.

METHODS:

Pregnant women and their partners who tested positive for α0-thalassemia or were diagnosed with HbH diseases were counseled and suggested to undergo a prenatal diagnostic procedure for α-thalassemia. Fetal material was obtained by chorionic villus sampling (CVS) between 9 and 13 weeks of gestation, by amniocentesis between 16 and 24 weeks of gestation and by cordocentesis after 24 weeks of gestation. The α0-thalassemia gene types were detected by gap polymerase chain reaction (Gap-PCR). All results were finally confirmed by DNA analysis after delivery or termination of pregnancy.

RESULTS:

An invasive prenatal α-thalassemia diagnosis was performed in 3155 cases at risk for Hb Bart's hydrops fetalis syndrome at our hospital from 2002 to 2016. CVS was performed in 1559 cases (49.4%), amniocentesis in 1240 cases (39.3%) and cordocentesis in 356 cases (11.3%). In total, 786 fetuses were diagnosed as Hb Bart's hydrops fetalis syndrome. Among these cases, the α-thalassemia genotype was --SEA/--SEA in 784 cases and --SEA/--THAI in 2 cases. All affected pregnancies were terminated in time.

CONCLUSIONS:

This extensive experience suggests that carrier screening, molecular diagnostics, genetic counselling, and prenatal diagnosis are effective measures to prevent Hb Bart's hydrops fetalis syndrome.

KEYWORDS:

Amniocentesis; Chorionic villus sampling; Cordocentesis; Invasive prenatal diagnosis; α-Thalassemia

PMID:
29948167
DOI:
10.1007/s00404-018-4807-4

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