The significance of standardized fetal ultrasonographic screening in the first trimester / 中华医学超声杂志（电子版）

ABSTRACT

Objective To evaluate the significance of standardized ultrasound examination of fetal structures in the ifrst trimester (11-13+6 weeks). Methods The ultrasound data of 29 858 fetuses who underwent the ifrst trimester screening were analyzed retrospectively in Beijing Obstetrics and Gynecology Hospital of Capital Medical University from January 2010 to December 2012 and followed up the cases with structural abnormalities and increased nuchal translucency (NT). Results Among 29 858 fetuses, 328 structural defects were detected in 284 fetuses (0.95%) by ultrasound in the first trimester, including fetal hydrops (124 cases), choroid plexus cysts (36 cases), exencephaly (32 cases), gastroschisis (24 cases), exomphalos (22 cases), cardiac defects (19 cases), megacystis (14 cases), spine abnormalities (10 cases), meningoceles/encephaloceles (9 cases), alobar holoprosencephaly (8 cases), hydrocephaly (7 cases), abnormalities of extremities (7 cases), acrania (6 cases), amniotic band syndrome (4 cases), abdominal cyst (3 cases) and conjoined twins (3 cases). Pregnancy was terminated in all cases (115) with exencephaly, gastroschisis, exomphalos, meningoceles/encephaloceles, alobar holoprosencephaly, hydrocephaly,abnormalities of extremities, acrania, amniotic band syndrome and conjoined twins, and the defects were verified by the gross appearance of fetuses. Two cases of megacystis were turned out to be normal during follow-up while 1 case was proved to be aneuploid and 1 other case progressed to multiple abnormalities during the second trimester. Most choroid plexus cysts, except 1 case of aneuploid, were normal during the second and the third trimester follow-ups by ultrasound. Thirteen cases of fetal hydrops were found to be aneuploids and 4 hydrops cases were proved to be complicated with other structural defects during the second and the third trimester. NT was increased in 422 cases (1.41%), among which 122 cases (28.91%) were complicated with structural defects and/or fetal hydrops. Ninty-nine cases with increased NT underwent chromosomal examination and 38 cases were found to be aneuploides. During the follow-up of 298 cases with increased NT who continued pregnancy, 21 structural abnormalities were found, including cardiac defects (14 cases), neural abnormalities (4 cases) and diaphragmatic hernia (3 cases). Conclusion The standardized fetal ultrasound in the first trimester is a effective tool for the screening of aneupolides and major structural abnormalities.