Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks?experience with the first 59 cases

Abstract

We have shown that fetuses affected by haemoglobin (Hb) Bart's disease can be reliably identified by their sonographic manifestation of cardiac enlargement at 12–14 weeks. Between 1995 and 1999, 282 couples were seen before 15 weeks. They were offered the options of chorionic villus sampling, or amniocentesis and DNA study, or ultrasound examination at 12–14 weeks, followed by cordocentesis and Hb study only when the ultrasound findings were abnormal. Two hundred and thirty-four at-risk pregnancies had ultrasound assessment at 12–14 weeks, 62 fetuses showed enlarged cardiothoracic ratio [mean (SD) 0.54 (0.02)] and four of them also had hydropic changes. Fifty-nine women agreed to undergo cordocentesis at 12–14 weeks and the procedure was successful in 57 cases (97%). Cordocentesis were performed by a freehand technique using a 26- or 24-gauge spinal needle with a 20-gauge introducer. Fifteen fetuses (25%) had bleeding from the cord and 12 fetuses (20%) had bradycardia following cordocentesis. The fetal loss rate was 8% (5/59). Hb Bart's disease was confirmed in all the 62 fetuses with cardiac enlargement. Their Hb concentration ranged between 3.1 to 8.4 g/dl. One hundred and seventy-two fetuses had normal ultrasound assessment and 148 of them were confirmed to be unaffected by Hb Bart's disease. Twenty-three pregnancies were ongoing and one miscarried at 15 weeks. We believe that sonographic assessment followed by selective cordocentesis at 12–14 weeks is a feasible prenatal diagnostic option for Hb Bart's disease. Copyright © 2000 John Wiley & Sons, Ltd.