Effectiveness of non-invasive prenatal screening for the detection of fetal sex chromosome anomalies / 中华医学遗传学杂志

OBJECTIVE@#To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies.@*METHODS@#A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained.@*RESULTS@#Among the 165 cases suspected for fetal sex chromosome anomalies, 129 have accepted invasive prenatal diagnosis, and 45 were confirmed, which yielded a positive predictive value of 34.88%. These included 16 cases of 47,XYY, 10 cases of 47,XXY, 6 cases of 45,X/46,XX, 5 cases of 47,XXX, 3 cases of 45,X, 1 case of 45,X/46,X,i(X)(q10), 1 case of 45,X/46,X,del(X)(q22), 1 case of 46,X,del(X)(q22), 1 case of 46,X,del(X)(p11) and 1 case of Xp22.31 1.2 Mb deletion.@*CONCLUSION@#NIPS has limited value for detecting fetal sex chromosome anomalies. Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.

Ultrasound screening and clinical manifestations of congenital cytomegalovirus infection in fetuses / 中华围产医学杂志

Objective To investigate the value of ultrasound screening for congenital cytomegalovirus (CMV) infection in fetuses and to summarize the clinical manifestations.Methods From January 2012 to December 2017,we retrospectively analyzed the clinical data of 905 gravidas who received invasive prenatal diagnosis in Fujian Provincial Maternity and Children's Hospital for abnormal prenatal ultrasound findings including ventriculomegaly,intracranial calcification,microcephaly,echogenic bowel and fetal growth restriction (FGR).CMV DNA loads in amniotic fluid and neonatal urine were detected by real-time polymerase chain reaction.CMV-specific IgM and IgG in umbilical cord and neonatal peripheral blood were detected by commercial enzyme 1 inked immunosorbent assay kits.Eighteen fetuses with normal karyotype were diagnosed as congenital CMV infection.Relationships of ultrasound features and CMV DNA loads in amniotic fluid to pregnancy outcomes were analyzed with x2 test or Fisher's exact test.Results (1) Congenital CMV infection was detected in 18 fetuses in this study with an detection rate of 1.99％ (18/905).Three pregnancies were terminated immediately after the diagnosis was confirmed,two terminated when the ventriculomegaly progressed,five terminated for hydrocephaly and eight continued to delivery.(2) Congenital CMV infection rate was significantly higher in those with two or more ultrasound abnormalities than that in those with only one abnormal indicator [3.92％(8/204) vs 1.28％(9/701),x2=4.619,P=0.032].Fetuses with craniocerebral abnormalities were more likely to have congenital CMV infection than those without [3.11％(13/418) vs 0.82％(4/487),x2=6.392,P=0.012].(3) Among the 18 fetuses with congenital CMV infection,those with serious ultrasound abnormalities had a significantly higher rate of adverse outcomes than those without (11/11 vs 3/7,Fisher's exact test,bilateral P=0.043).No significant difference in the rate of adverse outcomes was found between fetuses with low and high CMV DNA loads in amniotic fluid (3/4 vs 12/14,Fisher's exact test,bilateral P=1.000).Conclusions Ultrasound abnormalities including ventriculomegaly,intracranial calcification,microcephaly,echogenic bowel and FGR,especially those with multiple abnormalities and brain abnormalities,increased risk of congenital CMV infection.Congenital CMV fetuses with serious ultrasound abnormalities has adverse outcomes.