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

Prenat Diagn. 2000 Nov;20(11):900-4. doi: 10.1002/1097-0223(200011)20:11<900::aid-pd944>3.3.co;2-i.

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.

MeSH terms

  • Adult
  • Bradycardia / etiology
  • Cardiomegaly / congenital
  • Cardiomegaly / diagnostic imaging
  • Cordocentesis / adverse effects
  • Cordocentesis / methods*
  • Female
  • Hemoglobins, Abnormal / analysis*
  • Heterozygote
  • Humans
  • Pregnancy
  • Pregnancy Trimester, First
  • Pregnancy, High-Risk / blood*
  • Prenatal Diagnosis / methods*
  • Ultrasonography
  • alpha-Thalassemia / blood*
  • alpha-Thalassemia / diagnostic imaging
  • alpha-Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal