Prenatal diagnosis and treatment of nine multiple pregnancies with fetal chromosomal abnormalities

Abstract

Objective To investigate the prenatal diagnosis method and selective reduction treatment of the multiple pregnancy with fetal chromosomal abnormalities. Methods This study collected 9 cases of multiple pregnancies with fetal chromosomal abnormalities, which were admitted into The Third Affiliated Hospital of Guangzhou Medical University from January 2012 to December 2013. Prenatal diagnosis method, fetal chromosomal abnormalities, selection reduction treatment and pregnancy outcomes were retrospectively analyzed. Results Among the 9 cases, 3 cases were triplet pregnancy and the other 6 cases were twin pregnancy. (1)Prenatal diagnosis: ①Ultrasonic testing: All the fetuses of 9 patients were thick nuchal translucency (NT). Six cases had structural abnormalities fetus, including cervical cyst, cardiac abnormity, external genitals malformation, strephenopodia, anasarca, and so on.②Karyotype analysis: In 1 case, 2 fetuses of twin pregnancies were chromosomal abnormality. Among the 8 cases, 1 fetus of multiple pregnancies were chromosomal abnormality, which included 5 trisomy 21 syndrome cases, 1 Turner syndrome case, 1 chromosome deficiency case and 1 chromosome duplication. (2) Therapy and pregnancy outcomes: 7 cases were performed selective reduction; 1 caseaborted, 3 patients preterm delivered and all the newborns had complications, 3 cases delivered at term and all the newborns were normal. Among the 2 cases of refusing to fetal reduction, 1 case spontaneous abortion at the second trimester and the other was performed caesarean section at 35 weeks of pregnancy whose one of twin baby was trisomy 21 syndrome and the other was healthy. Conclusions For multiple pregnancies, karyotype analysis should be emphasized in the first trimester. When the fetuses were diagnosed of chromosomal abnormality, it should be performed ultrasound mediated selection reduction Key words: Pregnancy, multiple; Chromosomes, human; Chromosome aberrations; Prenatal diagnosis; Pregnancy reduction, multifetal