Celocentesis for early prenatal diagnosis of hemoglobinopathies.

OBJECTIVE: Celocentesis, is an invasive technique that can provide prenatal diagnosis of single gene disorders, from as early as seven weeks' gestation. The objective of this study is to examine the safety of celocentesis. METHOD: Celocentesis was performed for prenatal diagnosis of hemoglobinopathies in 402 singleton pregnancies, in which both parents were carriers of thalassaemia or sickle cell disease trait. We assessed procedure-related maternal discomfort or pain, success of sampling and obtaining of results, pregnancy outcome and postnatal follow up. RESULTS: First, celocentesis was carried out at a median gestational age of 8.6 (range 6.9-9.9) weeks and celomic fluid was successfully aspirated in 99.8% cases. Second, 67% of women had no or only mild discomfort, 18% moderate discomfort, 12% had mild to moderate pain and 3% had severe pain. Third, prenatal diagnosis from analysis of the celomic fluid was successful in 93.8% cases, but in the last 121 cases this was always successful..Fourth, in all cases of successful sampling and analysis of celomic fluid the diagnosis was concordant with results obtained from additional prenatal or postnatal testing. Fifth, in addition, to diagnosis of hemoglobinopathies, QF-PCR analysis which was performed to evaluate maternal contamination using several markers for chromosomes X, Y, 21, 18 and 13, led to the accurate diagnosis of chromosomal aneuploidies. Sixth, in all cases of affected fetuses diagnosed by celocentesis where the parents chose termination this was carried out <10 weeks' gestation. Seventh, in 97.1% (298/307) of the continuing pregnancies there was livebirth, in 7 (2.3%) there was miscarriage and in 2 there was loss to follow up. Eighth, fetal abnormalities were diagnosed in 3 (1%) cases, including unilateral transverse amputation of the forearm, unilateral moderate hydronephrosis and small bowel duplication. All neonates were examined by a pediatrician and were found to be phenotypically normal except the three cases with prenatally diagnosed defects. CONCLUSIONS: Celocentesis can be used for early prenatal diagnosis of genetic abnormalities and the procedure-related risks of pregnancy complications appears to be low. This article is protected by copyright. All rights reserved.