Clinical significance of combining second trimester serum and ultrasound screening for Down syndrome / 临床儿科杂志

objectives To explore the clinical significance of the triple screening method and fetal sonographic markers in Down syndrome screening. Methods The retrospective study included maternal blood serum triple-marker screening per-formed in normal singleton pregnancies at 14+1 to 19+6 weeks and ultrasonography screening for fetal chromosomal trisomy at 18+1 to 23+6 weeks from 2010 to 2013. Results In 24 368 pregancies, Karyotype analysis reveal 35 Down syndromes, the incidence is 0.14%(35/24 368). 25/35 were pregnancies with an expected date of delivery lower than 35 years old and 10/35 were pregnan-cies with an expected date of delivery higher than 35 years old. In 1 215 pregnancies, second-trimester serum screening showed high risk (cutoff>1:380), 14 were confirmed as Down syndromes ( sensitivity 40%;specificity 95.06%). In 1 142 pregnant women showed ultrasonography abnormalities, of which 11 were found to have Down syndrome (sensitivity 60%;specificity 91.09%). In 112 pregnancies, second-trimester serum screening and ultrasonography showed high risk, 4 were conformed as Down syn-drome (sensitivity 11.43%;specificity 99.56). Conclusions The most effective method of screening for Down syndrome is by maternal serum biochemistry. Ultrasonography is important in screening fetal trisomy 21. combined screening methods can improve the detection rate of trisomy 21.

Pregnancy Outcomes in Women with Unexplained Elevation of Maternal Serum Human Chorionic Gonadotropin Levels at Midtrimester / 대한산부인과학회잡지

OBJECTIVE: Our purpose was to determine the association between unexplained elevation of maternal serum human chorionic gonadotropin (hCG) in the second trimester and adverse pregnancy outcomes. MATERIAL AND METHODS: Between February 1995 and July 1999, we evaluated 1566 pregnant women who have underwent second trimester triple marker screening tests (alpha-fetoprotein, unconjugated estriol, human chorionic gonadotropin) and delivered at Severance Hospital, Yonsei Medical Center. Multiple pregnancies, abnormal fetal karyotypes, fetal anomalies, and abortions were excluded from the study. One hundred twenty-one women with hCG levels greater than 2.0 multiples of the median (MoM) were included in the study group while 1389 women with hCG levels less than 2.0 MoM served as the control group. Pregnancy outcomes were obtained from the delivery and neonatal records in our institution. Adverse pregnancy outcomes between the two groups were compared using chi-square test and Fisher's exact test. RESULTS: Women with unexplained elevation of human chorionic gonadotropin levels were associated with statistically significant increased risks for preeclampsia, preterm delivery, and low birth weight (p<0.05). However, there were no significant differences between the study and control groups with respect to preterm premature rupture of membranes, abnormal fetal heart rate tracing, abruptio placentae, intrauterine fetal death, and neonatal death. CONCLUSION: An unexplained elevation in human chorionic gonadotropin level in the second trimester may increase the risk for preeclampsia, preterm delivery, and low birth weight but not for other adverse pregnancy outcomes such as preterm premature rupture of membranes, abnormal fetal heart rate tracing, intrauterine fetal death, or neonatal death.

Triple marker screening for fetal chromosomal abnormalities in Korean women of advanced maternal age

The purpose of this article is to assess the value of maternal serum triple marker screening of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) for the prenatal diagnosis of fetal chromosomal abnormalities in Korean women of advanced maternal age. Maternal sera were collected from 458 pregnant Korean women aged 35 between 15 and 20 weeks gestation before amniocentesis. A patient- specific second trimester risk for fetal Down's syndrome was calculated using the median values for AFP, hCG, uE3 and maternal age. Twelve fetal chromosomal abnormalities were identified. These included six cases of trisomy 21, one case of 46,XY/47,XY,+21, two cases of trisomy 18, one case of trisomy 13, and two cases of 45, X. A cutoff level of 1:200 detected 85.7% (6/7) of the cases of Down's syndrome and 20% (1/5) of the other aneuploidies, with a 27.3% false positive rate. However, a cutoff level of 1:270 did not result in any gains in detecting Down's syndrome or other aneuploidies at the expense of a false positive rate of 34.3%. Second trimester triple marker testing is an effective screening tool for detecting fetal Down's syndrome in Korean women > or = 35 years old. However, it is not an effective screening tool for non-Down's chromosomal abnormalities.